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1.
Arq Neuropsiquiatr ; 73(6): 506-9, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26083886

RESUMEN

INTRODUCTION: The pathogenesis of Parkinson's disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in the alpha-synuclein gene (SNCA).Objective To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD). METHOD: A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping of SNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05. RESULTS: Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence of SNCA-A53T mutation was observed in all individuals. CONCLUSION: SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population.


Asunto(s)
Mutación , Enfermedad de Parkinson/genética , Polimorfismo de Longitud del Fragmento de Restricción/genética , alfa-Sinucleína/genética , Adulto , Anciano , Brasil , Estudios de Casos y Controles , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Factores Sexuales
2.
Arq Neuropsiquiatr ; 71(7): 446-52, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23857610

RESUMEN

OBJECTIVE: This study aimed to analyze the frequency of GSTP1-Alw26I polymorphism and to estimate its association with toxic substances in Parkinson's disease (PD). METHODS: A study group with 154 patients - subdivided into familial and sporadic PD groups - and 158 elderly individuals without the disease (control group) were evaluated. GSTP1-Alw26I polymorphism was analyzed by polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP). RESULTS: Patients were significantly more exposed to pesticides compared with the control group (p=0.0004), and the heterozygote genotype associated to exposure to pesticides also prevailed in patients (p=0.0001). Wild homozygote genotype was related to tobacco use (p=0.043) and alcoholism (p=0.033) in familial PD patients. CONCLUSION: Exposure to pesticides is associated to PD, whose effect can be enhanced when combined with the heterozygote genotype of GSTP1-Alw26I. Also, large genetic and environmental studies considering tobacco use, alcoholism, GSTP1 and PD are necessary to confirm our findings.


Asunto(s)
ADN-Citosina Metilasas/genética , Gutatión-S-Transferasa pi/genética , Enfermedad de Parkinson Secundaria/inducido químicamente , Enfermedad de Parkinson Secundaria/genética , Plaguicidas/toxicidad , Polimorfismo Genético/genética , Metiltransferasa de ADN de Sitio Específico (Adenina Especifica)/genética , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Factores de Riesgo , Factores Sexuales
3.
Biomed Res Int ; 2013: 641515, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24175296

RESUMEN

The pathogenesis of Parkinson's disease (PD) seems to involve genetic susceptibility to neurodegeneration. APOE gene has been considered a risk factor for PD. This study aimed to evaluate the association of APOE polymorphism with PD and its influence on lipid profile. We studied 232 PD patients (PD) and 169 individuals without the disease. The studied polymorphism was analyzed by PCR/RFLP. The Fisher's exact test, chi-square, ANOVA, and t-test (P < 0.05) were applied. The APOE3/3 genotype was prevalent in PD patients and Controls (P = 0.713) followed by APOE3/4 (P = 0.772). Both groups showed recommended values for lipid profile, with increase in the values of total cholesterol and LDLc, as well as decreased values of triglycerides in PD patients compared with Controls (P < 0.05 for all of them). Increased levels of HDLc, in PD patients, were associated with the APOE3/3 versus APOE-/4 genotypes (P = 0.012). The APOE polymorphism does not distinguish PD patients from Controls, as opposed to the lipid profile alone or in association with APOE. Furthermore, a relationship between increase of HDLc levels and APOE3 in homozygous was found in PD patients only.


Asunto(s)
LDL-Colesterol/sangre , Predisposición Genética a la Enfermedad , Enfermedad de Parkinson/sangre , Enfermedad de Parkinson/genética , Polimorfismo de Longitud del Fragmento de Restricción , Anciano , Anciano de 80 o más Años , Apolipoproteína E3/sangre , Apolipoproteína E3/genética , Apolipoproteína E4/sangre , Apolipoproteína E4/genética , LDL-Colesterol/genética , Femenino , Genotipo , Humanos , Masculino
4.
Obes Surg ; 22(4): 623-33, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22271356

RESUMEN

BACKGROUND: The manifestation of cholelithiasis after bariatric surgery may depend on genetic factors related to lipid metabolism, including apolipoprotein E (APOE) and cholesteryl ester transfer protein (CETP) gene polymorphisms. METHODS: We investigated the association between APOE HhaI and CETP TaqIB polymorphisms [PCR-RFLP] and occurrence of cholelithiasis over up to 8 months of follow-up after gastroplasty to Roux-en-Y gastric bypass in 220 patients distributed in Group 1 (G1) 114 with cholelithiasis postoperatively and Group 2 (G2) 106 without cholelithiasis, including biochemical and anthropometric profiles analyses. RESULTS: In our series, the allelic and genotypic distributions of CETP TaqIB and APOE HhaI polymorphisms were similar in both groups (P > 0.05). The subgroup analysis evidenced that 54% of the patients from G1, APOE*4 allele carriers compared with APOE*3/3 carriers, presented altered low-density lipoprotein cholesterol (LDL cholesterol) serum levels (P = 0.022) before bariatric surgery. The B1 allele for CETP was associated to more quickly elevation of HDL cholesterol levels just in individuals without cholelitiasis (P < 0.0001). The multivariate logistic regression analysis demonstrates correlation between APOE*4 allele, higher total cholesterol (TC) serum levels and prediposition to cholelitiasis in preoperative period. However, the presence of postoperative cholelithiasis was not associated with altered lipid profile. CONCLUSIONS: The CETP TaqIB and APOE HhaI polymorphisms do not seem to have association with gallstones in the late postoperative bariatric surgery, considering that these genetic variants do not differ subgroups of patients who are eligible to routine prophylactic cholecystectomy, at least in Brazilian population.


Asunto(s)
Apolipoproteínas E/genética , Colelitiasis/genética , Proteínas de Transferencia de Ésteres de Colesterol/genética , Derivación Gástrica , Obesidad Mórbida/genética , Obesidad Mórbida/cirugía , Adolescente , Adulto , Anciano , Apolipoproteínas E/metabolismo , Índice de Masa Corporal , Brasil/epidemiología , Estudios de Casos y Controles , Colelitiasis/epidemiología , Colelitiasis/metabolismo , Proteínas de Transferencia de Ésteres de Colesterol/metabolismo , Femenino , Estudios de Seguimiento , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Obesidad Mórbida/epidemiología , Obesidad Mórbida/metabolismo , Polimorfismo de Longitud del Fragmento de Restricción , Factores de Riesgo , Adulto Joven
5.
Arq. neuropsiquiatr ; 73(6): 506-509, 06/2015. tab, graf
Artículo en Inglés | LILACS | ID: lil-748179

RESUMEN

Introduction The pathogenesis of Parkinson’s disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in the alpha-synuclein gene (SNCA).Objective To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD).Method A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping of SNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05.Results Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence of SNCA-A53T mutation was observed in all individuals.Conclusion SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population.


Introdução A patogênese da doença de Parkinson (DP) envolve fatores ambientais e suscetibilidade genética, destacando-se a mutação de alfa-sinucleína (SNCA.)Objetivos Analisar a variante genética SNCA-A53T em pacientes com DP familiar (DPF) e DP esporádica (DPE).Método Foram estudados 294 indivíduos, independente de sexo, com etnia miscigenada, sendo 154 com DP e 140 sem a doença (grupo controle). A genotipagem de SNCA-A53T foi realizada por PCR/RFLP. Nível de significância para p < 0,05.Resultados Entre os pacientes, 37(24%) tinham DPF e 117 (75,9%) DPE. A ausência da mutação SNCA-A53T em todos os indivíduos.Conclusão DPE é destacada entre os pacientes, no entanto a mutação SNCA-A53T ausente em todos os indivíduos, não diferenciando os grupo controle e pacientes, o que deve ser confirmado em população brasileira, considerando uma ampla casuística, além da ancestralidade.


Asunto(s)
Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación , Enfermedad de Parkinson/genética , Polimorfismo de Longitud del Fragmento de Restricción/genética , alfa-Sinucleína/genética , Brasil , Estudios de Casos y Controles , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Reacción en Cadena de la Polimerasa , Factores Sexuales
6.
Arq. neuropsiquiatr ; 71(7): 446-452, July/2013. tab, graf
Artículo en Inglés | LILACS | ID: lil-679164

RESUMEN

Objective This study aimed to analyze the frequency of GSTP1-Alw26I polymorphism and to estimate its association with toxic substances in Parkinson's disease (PD). Methods A study group with 154 patients - subdivided into familial and sporadic PD groups - and 158 elderly individuals without the disease (control group) were evaluated. GSTP1-Alw26I polymorphism was analyzed by polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP). Results Patients were significantly more exposed to pesticides compared with the control group (p=0.0004), and the heterozygote genotype associated to exposure to pesticides also prevailed in patients (p=0.0001). Wild homozygote genotype was related to tobacco use (p=0.043) and alcoholism (p=0.033) in familial PD patients. Conclusion Exposure to pesticides is associated to PD, whose effect can be enhanced when combined with the heterozygote genotype of GSTP1-Alw26I. Also, large genetic and environmental studies considering tobacco use, alcoholism, GSTP1 and PD are necessary to confirm our findings. .


Objetivo Analisar a frequência do polimorfismo GSTP1-Alw26I, assim como estimar sua associação com substâncias tóxicas na doença de Parkinson (DP). Métodos A casuística avaliada foi composta por um grupo de estudo, com 154 pacientes, subdivididos em DP familial e esporádica, e outro com 158 idosos sem a doença (grupo controle). O polimorfismo GSTP1-Alw26I foi analisado por reação em cadeia da polimerase/polimorfismo de comprimento do fragmento de restrição (PCR/RFLP). Resultados Os pacientes foram significativamente mais expostos a pesticidas, comparados com o grupo controle (p=0,0004), e o genótipo heterozigoto associado a exposição a pesticidas também prevaleceu nos pacientes (p=0,0001). O genótipo homozigoto selvagem apresentou relação com tabagismo (p=0,043) e etilismo (p=0,033) em pacientes com DP familial. Desse modo, a exposição a pesticidas está associada à DP, cujo efeito pode ser potencializado quando combinado ao genótipo heterozigoto de GSTP1-Alw26I. Estudos genético-ambientais envolvendo tabagismo, etilismo, GSTP1 e DP devem ser realizados em casuísticas numerosas, confirmando essa associação. .


Asunto(s)
Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , ADN-Citosina Metilasas/genética , Gutatión-S-Transferasa pi/genética , Enfermedad de Parkinson Secundaria/inducido químicamente , Enfermedad de Parkinson Secundaria/genética , Plaguicidas/toxicidad , Polimorfismo Genético/genética , Metiltransferasa de ADN de Sitio Específico (Adenina Especifica)/genética , Estudios de Casos y Controles , Frecuencia de los Genes , Heterocigoto , Reacción en Cadena de la Polimerasa , Factores de Riesgo , Factores Sexuales
7.
Arq. ciênc. saúde ; 17(2): 90-95, abr.-jun. 2010. tab
Artículo en Portugués | LILACS | ID: lil-617455

RESUMEN

Introdução: A síndrome metabólica (SM) é associada com risco aumentado para eventos cardiovasculares. Esse estudo teve como objetivo avaliar a prevalência de SM em indivíduos brasileiros com acompanhamento cardiológico, considerando antecedentes pessoais e uso de medicamentos. Métodos: Foram estudados 163 adultos (85 pacientes e 78 controles). SM foi caracterizada de acordo com os critérios da International Diabetes Federation. Analisou-se história prévia de diabetes mellitus (DM), dislipidemia, doença arterial coronária (DAC), acidente vascular encefálico (AVE), tabagismo, etilismo, sedentarismo, além de medicamentos utilizados. Admitiu-se nível de significância P<0,05. Resultados: Maior frequência de SM (59%) e de pressão arterial elevada (71%) foi observada entre os pacientes se comparado aos controles (3% e 13%, respectivamente, P<0,0001 para ambos). No grupo dos pacientes detectou-se maior prevalência de níveis reduzidos de fração de colesterol de lipoproteína de alta densidade (HDLc: 41%) e de níveis aumentados de triglicérides (TG: 39%) quando comparados aos controles (17%, P=0,0010 e 19%, P=0,0095; respectivamente). A incidência de obesidade visceral foi semelhante em pacientes (77%) e controles (64%, P=0,0890). O uso contínuo de drogas anti-hipertensivas (67%), hipoglicemiantes (18%) e hipolipemiantes (42%) foi mais prevalente em pacientes comparado aos controles (P<0,0001). Uma maior proporção de pacientes com DM,DAC e dislipidemia foi observada (P<0,0010) e história pessoal de AVE foi detectada apenas nesses indivíduos(6%, P=0,0598). Entretanto, maior frequência de tabagismo (P=0,0015), alcoolismo (P=0,0070) e sedentarismo(P=0,0236) foi observada nos controles. Conclusão: Neste estudo SM, assim como particularmente pressão arterial elevada, nível baixo de HDLc e elevado de TG destacam-se em casuística brasileira com acompanhamento cardiológico, confirmando a necessidade de combate agressivo aos fatores de risco já consagrados...


Background: The metabolic syndrome (MS) is associated with an increased risk of major cardiovascular events. This study aimed to evaluate the prevalence of MS in Brazilian individuals with cardiologic medical assistance, considering their personal history and use of drugs. Methods: One hundred sixty-three adults (85patients and 78 controls) were studied. MS was characterized using International Diabetes Federation definitions. History of diabetes mellitus (DM), dyslipidemia, coronary artery disease (CAD), stroke, smoking,alcohol consumption, sedentary lifestyle, and habitual therapy were analyzed. Significance level was definedas P<0.05. Results: Higher frequency of MS (59%) and elevated blood pressure levels (71%) were observed among patients compared to controls (3% and 13%, respectively, P<0.0001 for both). In the group of patients were detected higher prevalence of reduced levels of high-density lipoprotein cholesterol fractions (HDLc)(41%) and increased levels of triglycerides (TG: 39%) when compared to controls (17%, P=0.0010 and 19%,P=0.0095; respectively). The incidence of visceral obesity was similar in patients (77%) and controls (64%,P=0.0890). The habitual therapy with anti-hypertensive (67%), anti-hyperglycemic (18%) and lipid-lowering drugs (42%) was more prevalent in patients when compared to controls (P<0.0001). A higher rate of DM,CAD and dyslipidemia was observed in patients (P<0.0010) and personal history of stroke was detected only among these individuals (6%, p=0.0598). However, higher frequencies of smoking (P=0.0015), alcohol consumption (P=0.0070), and sedentary life style (P=0.0236) was observed among controls. Conclusions: In this study MS, particularly high blood pressure, low HDLc and high TG levels stand out in Brazilian subjects with cardiologic medical assistance, supporting the importance in order to combat the classic clustering of cardiovascular disease risk factors. In addition, the expressive rate of visceral obesity...


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano de 80 o más Años , Enfermedades Cardiovasculares , Síndrome Metabólico/epidemiología
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