Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 119
Filtrar
1.
Zh Vopr Neirokhir Im N N Burdenko ; 86(2): 103-108, 2022.
Artigo em Russo | MEDLINE | ID: mdl-35412719

RESUMO

OBJECTIVE: To demonstrate own experience in 3D modeling for planning of minimally invasive approach to the orbit and anterior skull base. MATERIAL AND METHODS: A 17-year-old patient admitted to the Department of Pediatric Neurosurgery with complaints of decreased visual acuity of the left eye, lacrimation and exophthalmos. MRI revealed a tumor of the left orbit. We have preoperatively modeled frontoorbital region, anterior skull, as well as eyeball and tumor within the same model. Considering young age and potentially favorable prognosis of disease, we preferred a minimally invasive intervention (microsurgical resection of tumor through minimally invasive frontoorbital access). RESULTS: Total resection of tumor was followed by examination of anterior skull base. There was postoperative regression of visual disturbances, lacrimation and exophthalmos. Sutures were removed after 5 days, and the patient was discharged. CONCLUSION: Minimally invasive frontoorbital access is adequate for approach to the orbit, anterior and middle cranial fossa, adequate resection of orbital tumor and examination of anterior skull base. 3D modeling is an additional preoperative tool to improve the quality of preoperative planning and facilitate intraoperative navigation.


Assuntos
Exoftalmia/cirurgia , Órbita/cirurgia , Neoplasias Orbitárias/cirurgia , Adolescente , Criança , Fossa Craniana Média , Exoftalmia/diagnóstico por imagem , Exoftalmia/etiologia , Humanos , Imageamento Tridimensional , Procedimentos Cirúrgicos Minimamente Invasivos , Procedimentos Neurocirúrgicos , Órbita/diagnóstico por imagem , Neoplasias Orbitárias/diagnóstico por imagem
2.
Artigo em Russo | MEDLINE | ID: mdl-33306301

RESUMO

Currently, 3D-printing technologies are increasingly used in neurosurgery. Active development of this approach is valuable to improve preoperative planning, intraoperative navigation, and manufacturing of realistic training models. In this manuscript, the authors report an experience of the pediatric neurosurgical department of the Almazov National Medical Research Center regarding 3D-printing technologies in manufacturing of individual implants for skull defect closure. The main aspects of this technology, advantages and disadvantages are considered. Moreover, the authors describe several cases of creating individual implants for children with skull defects of various origins, dimensions and complexity.


Assuntos
Neurocirurgia , Crânio , Criança , Humanos , Procedimentos Neurocirúrgicos , Impressão Tridimensional , Tecnologia
3.
PLoS One ; 12(3): e0172716, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28253294

RESUMO

BACKGROUND: Genome-wide association studies have identified novel genetic associations for asthma, but without taking into account the role of active tobacco smoking. This study aimed to identify novel genes that interact with ever active tobacco smoking in adult onset asthma. METHODS: We performed a genome-wide interaction analysis in six studies participating in the GABRIEL consortium following two meta-analyses approaches based on 1) the overall interaction effect and 2) the genetic effect in subjects with and without smoking exposure. We performed a discovery meta-analysis including 4,057 subjects of European descent and replicated our findings in an independent cohort (LifeLines Cohort Study), including 12,475 subjects. RESULTS: First approach: 50 SNPs were selected based on an overall interaction effect at p<10-4. The most pronounced interaction effect was observed for rs9969775 on chromosome 9 (discovery meta-analysis: ORint = 0.50, p = 7.63*10-5, replication: ORint = 0.65, p = 0.02). Second approach: 35 SNPs were selected based on the overall genetic effect in exposed subjects (p <10-4). The most pronounced genetic effect was observed for rs5011804 on chromosome 12 (discovery meta-analysis ORint = 1.50, p = 1.21*10-4; replication: ORint = 1.40, p = 0.03). CONCLUSIONS: Using two genome-wide interaction approaches, we identified novel polymorphisms in non-annotated intergenic regions on chromosomes 9 and 12, that showed suggestive evidence for interaction with active tobacco smoking in the onset of adult asthma.


Assuntos
Asma/induzido quimicamente , Asma/genética , Interação Gene-Ambiente , Estudo de Associação Genômica Ampla , Fumar/efeitos adversos , Adulto , Estudos de Coortes , Predisposição Genética para Doença/genética , Humanos , Polimorfismo de Nucleotídeo Único
4.
Bull Exp Biol Med ; 161(5): 657-661, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27709382

RESUMO

The therapeutic effect of doxazosin (40 µg/kg/day over one month) on urinary bladder was examined in female rats with modeled chronic infravesical obstruction (IVO) produced by graduated mechanical constriction of the proximal urethral segment. In one month, IVO induced a pronounced vesical hypertrophy both in treated and untreated rats that manifested in increased bladder weight and capacity, the latter increment being pronouncedly greater in treated rats. In untreated IVO rats, infusion cystometry revealed elevated basal intravesical pressure of void bladder P0, markedly increased maximal (premicturitional) pressure Pmax, and increased amplitude of spontaneous oscillations of intravesical pressure ΔPdet in filled bladder. Doxazosin produced no significant effect on Pmax rise during IVO, but prevented elevation of P0 and increment of ΔPdet in filled bladder. During gradual filling of urinary bladder in control (intact) rats, the parasympathetic vesical influences increased progressively, while in untreated IVO rats, the adrenergic influences prevailed even at maximal filling of the bladder. In IVO rats, doxazosin prevented the bias of the sympathetic-parasympathetic balance in the filled bladder in favor of sympathetic influences, but did not prevent this bias in a void bladder. It is hypothesized that α-adrenoblockers improve micturition during IVO caused by benign prostatic hyperplasia not only by decreasing the urethral resistance to urine flow due to down-regulation of prostate smooth muscle tone, but also by a direct action of these blockers on detrusor adrenergic receptors and central structures involved in urinary bladder control.


Assuntos
Antagonistas de Receptores Adrenérgicos alfa 1/farmacologia , Doxazossina/farmacologia , Obstrução Uretral/tratamento farmacológico , Micção/efeitos dos fármacos , Antagonistas de Receptores Adrenérgicos alfa 1/uso terapêutico , Animais , Doxazossina/uso terapêutico , Avaliação Pré-Clínica de Medicamentos , Feminino , Masculino , Tamanho do Órgão/efeitos dos fármacos , Hiperplasia Prostática , Ratos , Fibras Simpáticas Pós-Ganglionares/efeitos dos fármacos , Fibras Simpáticas Pós-Ganglionares/fisiopatologia , Obstrução Uretral/fisiopatologia , Bexiga Urinária/efeitos dos fármacos , Bexiga Urinária/inervação , Bexiga Urinária/patologia
5.
Ter Arkh ; 88(9): 50-54, 2016.
Artigo em Russo | MEDLINE | ID: mdl-27735913

RESUMO

AIM: To investigate whether the functionally relevant -844G>A promotor polymorphism in the catalase (CAT) gene is associated with the development of essential hypertension (EH). SUBJECTS AND METHODS: The investigation enrolled 2,339 unrelated ethnic Russian people, including 1,269 EH patients and 770 apparently healthy individuals. Genotyping of CAT -844G>A (rs769214) polymorphism was performed using a TaqMan real-time polymerase chain reaction assay. RESULTS: The -844A allele (odds ratio (OR)=1.31; 95% confidence interval (CI), 1.04 to 1.64; р=0.02) and the -844AA genotype (OR=1.41; 95% CI, 1.02 to 1.94; р=0.03) were found to be related to a higher risk of EH in the smokers. No association was found between this polymorphism and EH risk in the non-smokers. CONCLUSION: Smoking is a predisposing factor for development of EH in CAT -844AA genotype carriers.


Assuntos
Hipertensão , Fumar , Hipertensão Essencial , Feminino , Predisposição Genética para Doença , Humanos , Hipertensão/genética , Hipertensão/psicologia , Masculino , Pessoa de Meia-Idade , Federação Russa , Fumar/genética , Fumar/fisiopatologia
6.
Bull Exp Biol Med ; 159(6): 776-8, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26519273

RESUMO

We studied the relationship between the risk of chronic heart disease and FMO3 gene polymorphism E158K analyzed by PCR and restriction fragment length polymorphism (RFLP) analysis. The homozygous 158KK genotype of FMO3 gene is associated with high risk of chronic heart disease in women, but not in men. FMO3 gene polymorphism E158K is a significant predictor of predisposition to chronic heart disease in women.


Assuntos
Substituição de Aminoácidos , Cardiopatias/genética , Oxigenases/genética , Polimorfismo de Nucleotídeo Único , Idoso , Estudos de Casos e Controles , Doença Crônica , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Cardiopatias/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Fragmento de Restrição , Fatores de Risco
7.
Zh Nevrol Psikhiatr Im S S Korsakova ; 115(9 Pt 2): 38-41, 2015.
Artigo em Russo | MEDLINE | ID: mdl-26525933

RESUMO

AIM: Reactive oxygen species an important role in the pathogenesis of cerebrovascular disorders. NAD(P)H oxidases are one of the main sources of superoxide anions in cerebral arteries. NAD(P)H oxidase represents molecular complex and its p22phox subunit is coded by the CYBA gene located in the long arm of chromosome 16. We studied the association between the 640A>G polymorphism (rs1049255) of the CYBA gene with the risk of stroke in the Russian population. MATERIAL AND METHODS: Authors examined 887 people: 445 stroke patients, including 393 patients with ischemic stroke and 52 patients with hemorrhagic stroke, and 442 healthy people (controls). Genotyping was performed using real-time PCR and TaqMan allele discrimination assays. RESULTS: It was found that carriers of the heterozygous genotype 640AG of the CYBA gene were at a lower risk of stroke compared to the controls (OR=0.77, 95% CI=0.59-1.01, p=0.05). The stratified analysis showed that the genotype 640AG was associated with decreased risk of ischemic stroke (OR=0.75, 95% CI=0.57-0.99, p=0.04). CONCLUSION: The present study is the first to show that polymorphism 640A>G of the CYBA gene is associated with the risk of ischemic stroke.

8.
Artigo em Inglês, Russo | MEDLINE | ID: mdl-26529626

RESUMO

OBJECTIVE: The study presents a clinical observation of foreign body granuloma, which is rare productive inflammation, developed on treatment with a hemostatic material upon removal of cerebral cavernoma. MATERIAL AND METHODS: A 4-year-old boy operated on for left parietal lobe cavernoma was diagnosed with a mass lesion during a follow-up MRI examination 4 months after surgery. The patient was re-operated in connection with suspected abscess formation. The pathological tissue was subjected to the histological and immunohistochemical examination. RESULTS: Inflammation was accompanied by the formation of foreign body granulomas, and, in some areas, had immune nature with signs of focal destructive vasculitis, delayed maturation of the granulation tissue, and disturbance of the current organization and encapsulation processes. It is worth noting that granulomatous inflammation around a hemostatic material in the brain has no specific features during introscopy and mimics an abscess or tumor recurrence. CONCLUSION: The use of hemostatic materials upon resection of cerebral cavernous malformations may cause formation of granuloma mimicking disease relapse or abscess in the long term period. To prevent granulomatous inflammation, removal of a hemostatic material, if possible, from the surgical field is recommended when reliable hemostasis is achieved.


Assuntos
Granuloma de Corpo Estranho/etiologia , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Hemostáticos/efeitos adversos , Pré-Escolar , Granuloma de Corpo Estranho/patologia , Humanos , Masculino , Procedimentos Neurocirúrgicos/efeitos adversos , Lobo Parietal/cirurgia
9.
Biomed Khim ; 61(4): 427-39, 2015.
Artigo em Russo | MEDLINE | ID: mdl-26350733

RESUMO

In the present review we have analyzed and summarized recent literature data on genetic and biochemical mechanisms responsible for involvement of antioxidant defense enzymes in the etiology and pathogenesis of bronchial asthma. It has been shown that the mechanisms of asthma development are linked with genetically determined abnormalities in the functioning of antioxidant defense enzymes. These alterations are accompanied by a systemic imbalance between oxidative and anti-oxidative reactions with the shift of the redox state toward increased free radical production and oxidative stress, a key element in the pathogenesis of bronchial asthma.


Assuntos
Asma/genética , Brônquios/enzimologia , Expressão Gênica , Predisposição Genética para Doença , Polimorfismo Genético , Asma/enzimologia , Asma/patologia , Brônquios/patologia , Catalase/genética , Catalase/metabolismo , Glutamato-Cisteína Ligase/genética , Glutamato-Cisteína Ligase/metabolismo , Glutationa Peroxidase/genética , Glutationa Peroxidase/metabolismo , Glutationa Transferase/genética , Glutationa Transferase/metabolismo , Humanos , NAD(P)H Desidrogenase (Quinona) , NADPH Oxidases/genética , NADPH Oxidases/metabolismo , Estresse Oxidativo , Peroxidase/genética , Peroxidase/metabolismo , Glutationa Peroxidase GPX1
10.
Klin Med (Mosk) ; 93(2): 34-40, 2015.
Artigo em Russo | MEDLINE | ID: mdl-26117916

RESUMO

Genetic factors can account for the differences in the frequency of stroke between men and women. Despite the scarcity of special clinico-genetic studies of stroke frequency in the two genders, analysis of association between DNA polymorphism and risk of stroke may reveal the influence of genetic factors on the sex-related predisposition to cerebrovascular diseases. The present work was aimed to study the relationship between frequent polymorphisms -786T > C of endothelial nitric oxide synthase (NOS3) gene E298D and the risk of stroke in men and women. 904 DNA samples were obtained from unrelated Russian residents of Central Russia including 480 stroke patients and 424 healthy volunteers. Genotyping was performed by PCR in real time with allele discrimination using TaqMan probes. The homoygous genotype of NOS3 gene E298D was found to be associated with an increased risk of stroke in men (OR 2.60; 95% CI 1.28-5.29, p = 0.01). Neither men nor women showed association of polymorphism -786T > C with the predisposition to stroke. The E298D genotype in men was associated with the enhanced risk of both ischemic (OR 2.38; 95% CI 1.14-4.96, p = 0.02) and hemorrhagic (OR 5,58; 95% CI 1.95-16.05, p = 0.003) stroke. Thus, NOS3 gene E298D polymorphism is a reliable predictor of predisposition to various pathogenetic variants of stroke only in men.


Assuntos
DNA/genética , Óxido Nítrico Sintase Tipo III/genética , Polimorfismo Genético , Acidente Vascular Cerebral/genética , Fatores Etários , Alelos , Feminino , Seguimentos , Predisposição Genética para Doença , Genótipo , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Óxido Nítrico Sintase Tipo III/metabolismo , Reação em Cadeia da Polimerase , Estudos Retrospectivos , Federação Russa/epidemiologia , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/metabolismo
11.
Genetika ; 51(2): 256-62, 2015 Feb.
Artigo em Russo | MEDLINE | ID: mdl-25966592

RESUMO

Violations of the endothelium-dependent regulation of cerebral vessel tone are an important link in the pathogenesis of cerebrovascular disorders. The purpose of this study was to investigate the association of--86T>C and E298D polymorphisms of the endothelial nitric oxide synthase(NOS3) gene with the risk of ce-ebral stroke (CS) in Russian inhabitants of Central Russia, as well as to evaluate the trigger effect of smoking on the risk of CS in carriers of genotypes NOS3. Genotyping of-786T>C and E298D polymorphisms of the NOS3 gene was carried out through real time. CR and TaqMan allele discrimination assays. It was deter-ined that the genotype 298DD is associated with the risk of CS (OR =-1.71, 95% CII= 1.05-2.78, P= 0.03). Subsequent analysis showed that genotype 298 DD (OR = 3.75; 95% CII= 1.39-10.11; P= 0.01) is associatedw ith an increased risk of CS exclusively in smoking individuals. The combination ofg enotypes -786T/Cx298D/D was associated with the risk of CS. n smokers (OR = 7.71; 95% CI = 1.31-45.34; P = 0.02). In the present study, it was found that smoking is a significant modifying risk factor for cerebral stroke in the carriers of the 298DD and -786T/C. enotypes of endothelial nitric oxide synthase.


Assuntos
Predisposição Genética para Doença , Óxido Nítrico Sintase Tipo III/genética , Fumar/efeitos adversos , Acidente Vascular Cerebral/genética , Idoso , Alelos , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Federação Russa , Fumar/genética , Acidente Vascular Cerebral/patologia , População Branca
12.
Ter Arkh ; 87(8): 86-91, 2015.
Artigo em Russo | MEDLINE | ID: mdl-26824821

RESUMO

AIM: To investigate the association between LPL HindIII (rs320) and CETP Taq1b (rs708272) polymorphisms with the risk of atherothrombotic stroke (ATS) in the population of Central Russia. MATERIAL AND METHODS: A total of 832 DNA samples obtained from 417 patients with ATS and from 415 healthy individuals of the corresponding gender and age were investigated. The polymorphisms were genotyped by a real-time PCR assay using TaqMan probes. RESULTS: The carriage of heterozygous LPL +495TG genotype was found to be associated with the lower risk of ATS (odds ratio (OR)=0.71; 95% CI: 0.53-0.94; p=0.02). A gender-stratified analysis showed that in the men the variant LPL +495TG genotype was associated with the increased risk of ATS (OR=2.06; 95% CI: 1.03-4.14; р=0.04) while the heterozygous +495GG genotype had a protective effect against the risk of stroke (OR=0.66; 95% CI: 0.45-0.97; р=0.04). Variance analysis established that this polymorphism was found to be associated with the increased prothrombin index in the men with ATS (p=0.01). CONCLUSION: This study was the first to reveal the association of the LPL HindIII (rs320) polymorphism with the increased prothrombin index and the risk of ATS in the Russian male population.

13.
Ter Arkh ; 86(12): 66-71, 2014.
Artigo em Russo | MEDLINE | ID: mdl-25804043

RESUMO

AIM: To study the association of M235T (rs699) and T174M (rs4762) polymorphisms of the angiotensinogen (AGT) gene with the risk of cerebral stroke (CS) in the Russians of the Central Chernozem Region. MATERIALS AND METHODS: A total of 638 DNA samples obtained from 353 patients with CS and 285 sex- and age-matched healthy individuals were examined. The polymorphisms were genotyped by polymerase chain reaction (T174M) and TaqMan allelic discrimination (M235T) assays. RESULTS: Heterozygous AGT 174TM genotype carriers were found to be at a higher risk for CS (odd ratio (OR) = 1.52; 95% confidence interval (CI), 1.08-2.15; p = 0.02). A gender-stratified analysis showed that the mutant 174M allele (OR = 1.86; 95% CI, 1.14-3.03, p = 0.01) and variant 174TM and 174MM genotypes (OR = 1.86; 95% CI, 1.09-3.20; p = 0.02) were associated with the higher risk of cerebral stroke in women. CONCLUSION: The association of AGT T174M polymorphism with the risk of CS was first found; but the higher risk of the disease in the carriers of variant alleles and genotypes was observed in the women only.


Assuntos
Angiotensinogênio/genética , Acidente Vascular Cerebral/genética , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Risco , Federação Russa/epidemiologia , Fatores Sexuais
14.
Eksp Klin Gastroenterol ; (9): 17-20, 2014.
Artigo em Russo | MEDLINE | ID: mdl-25916127

RESUMO

The aim of this study was to investigate the relationship between the polymorphism -308G>A of tumor necrosis factor (TNF) gene and the risk and severity of acute pancreatitis (AP) in unrelated Russians from Kursk region. DNA samples were obtained from 190 AP patients and 217 healthy controls for genotyping the polymorphism through a TaqMan allelic discrimination assay. Although -308G>A genotypes did not show a significant association with disease risk, the genotype -308GA was found to be associated only with non-severe type of acute alcohol-related pancreatitis (odds ratio 1.81 (95% CI 1.02-3.23 p=0.04).


Assuntos
Pancreatite/genética , Polimorfismo de Nucleotídeo Único , Fator de Necrose Tumoral alfa/genética , Doença Aguda , Estudos de Casos e Controles , Cidades , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Pancreatite/diagnóstico , Pancreatite/etiologia , Pancreatite/metabolismo , Pancreatite Necrosante Aguda/diagnóstico , Pancreatite Necrosante Aguda/etiologia , Pancreatite Necrosante Aguda/genética , Pancreatite Necrosante Aguda/metabolismo , Pancreatite Alcoólica/diagnóstico , Pancreatite Alcoólica/etiologia , Pancreatite Alcoólica/genética , Pancreatite Alcoólica/metabolismo , Federação Russa , Índice de Gravidade de Doença
15.
Bull Exp Biol Med ; 155(6): 734-7, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24288753

RESUMO

We studied the association between of cytochrome P450 2E1 (CYP2E1) gene polymorphism and risk of essential hypertension development depending on alcohol drinking habit in unrelated men in Russian population (patients with essential hypertension and healthy volunteers). All participants were genotyped for four CYP2E1 gene polymorphisms -1293G>C (rs3813867), -1053C>T (rs2031920), 7632T>A (rs6413432), and 9896C>G (rs2070676) by PCR and restriction analysis. We found statistically significant associations between -1293C allele (OR=5.04, 95% CI=1.23-20.70, p=0.03) and -1293GC genotype (OR=5.36, 95% CI=1.28-22.50, p=0.03) with increased risk of essential hypertension in men. Stratified analysis on alcohol drinking habit showed that the presence of -1293C allele (OR=6.82, 95% CI=1.12-41.70, p=0.04) and -1293GC genotype (OR=7.61, 95% CI=1.2-48.4, p=0.03) in men with alcohol abuse increases the risk of essential hypertension. The obtained data suggest that excessive alcohol consumption and increased induction of cytochrome in the carriers of -1293C allele of CYP2E1 gene lead to generation of highly reactive free radical oxidation products. These processes induced oxidative stress and endothelial induction, which served as the pathogenetic basis for essential hypertension.


Assuntos
Alcoolismo/complicações , Citocromo P-450 CYP2E1/genética , Hipertensão/genética , Polimorfismo de Nucleotídeo Único , Alcoolismo/genética , Estudos de Casos e Controles , Hipertensão Essencial , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Desequilíbrio de Ligação , Masculino , Regiões Promotoras Genéticas , Risco , Análise de Sequência de DNA
16.
Kardiologiia ; 51(10): 33-9, 2011.
Artigo em Russo | MEDLINE | ID: mdl-22117679

RESUMO

In this study we for the first time in Russian population elucidated association between G460W polymorphism of -adducin gene (ADD1) and risk of development of hypertensive disease (HD). DNA samples from 205 patients with HD and 207 healthy nonrelated individuals of Russian nationality were genotyped for G460W polymorphism of ADD1 gene by polymerase chain reaction and restriction analysis. We detected no statistically significant differences between groups of healthy people and patients with HD. But among smokers with 460GW genotype of ADD1 gene we found elevated risk of HD development (OR 2.71, 95%CI 1.01-7.26; p=0.04). Among nonsmokers the given genotype did not influence risk of origination of the disease (OR 0.67, 95%CI 0.39-1.15; p=0.15). Moreover carriers of 460GW genotype who did not consume fresh vegetables and fruits or consumed them insufficiently (once a day or less) had the highest risk of HD development (OR 2.24, 95%CI 1.06-4.73; p=0.03) while in subjects who consumed fresh vegetables and fruits regularly the given genotype possessed protective properties in relation to risk of development of the disease (OR 0.25, 95%CI 0.09-0.68; p=0.005). Thus in the studied Russian population G460W polymorphism of ADD1 gene can be considered as predisposition gene to HD, but its pathological effect is manifested solely under influence of environmental factors.


Assuntos
Proteínas de Ligação a Calmodulina/genética , Interação Gene-Ambiente , Hipertensão/genética , Polimorfismo de Nucleotídeo Único , Adulto , Pressão Sanguínea , Comportamento Alimentar , Feminino , Predisposição Genética para Doença , Testes Genéticos , Humanos , Hipertensão/epidemiologia , Hipertensão/fisiopatologia , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Federação Russa/epidemiologia , Fumar/efeitos adversos
17.
Ter Arkh ; 83(4): 55-60, 2011.
Artigo em Russo | MEDLINE | ID: mdl-21675276

RESUMO

AIM: To study associations of C825T (rs5443) and G272S (rs16932941) polymorphisms of GNB3 gene in Russian population of the Central Chernozem region with essential hypertension (EH) risk; to elicit the role of environmental risk factors in realization of EH predisposition in this gene genotypes carriers. MATERIAL AND METHODS: We studied DNA samples obtained from 205 EH patients and 207 healthy individuals. EH patients were treated in Kursk hospitals. Genotyping of GNB3 gene polymorphisms was conducted by polymerase chain reaction and restriction analysis. RESULTS: Prevalence of 82ST allele of GNB3 gene in EH patients and healthy individual was 0.334 and 0.295, respectively, of 272S allele--0.037 and 0.058, respectively. We found no significant differences by prevalence of genotypes of gene GNB3 polymorphisms C825T and G272S in EH patients and healthy individuals. Non-smoking carriers of 272GS genotype had a low risk of EH (OR 0.42 in 95% CI from 0.18 to 0.97; p = 0.04). Smokers had no protective effect of this genotype. The protective effect of 272GS genotype was also found in individuals with low or moderate alcohol drinking habits (OR 0.29 in 95% CI from 0.11 to 0.77, p = 0.02) and in individuals without chronic exposure to stress (OR 0.29 in 95% CI from 0.09 to 0.91, p = 0.04). In contrast, hard drinkers and patients exposed to chronic stress had no protective effect of heterozygous genotype 272GS of gene GNB3. CONCLUSION: G272S polymorphism of GNB3 gene can be considered as a new genetic marker of predisposition to EH. The protective effect depends of environmental factors associated with high risk to develop EH.


Assuntos
DNA/genética , Exposição Ambiental/efeitos adversos , Proteínas Heterotriméricas de Ligação ao GTP/genética , Hipertensão/genética , Polimorfismo Genético , Alelos , Pressão Sanguínea , Predisposição Genética para Doença , Genótipo , Humanos , Hipertensão/etiologia , Hipertensão/fisiopatologia , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Subunidades Proteicas , Fatores de Risco , Federação Russa
18.
Eksp Klin Gastroenterol ; (1): 8-11, 2009.
Artigo em Russo | MEDLINE | ID: mdl-19548417

RESUMO

The purpose of our study was to investigate whether polymorphisms -238G/A, -308G/A, and -863C/A within the promoter of the TNF-alpha gene are associated with clinical features of gastric and duodenal ulcer disease in a Russian population. DNA samples of 381 unrelated patients with gastric and duodenal ulcer disease and 216 sex- and age-matched healthy controls were used to determine the TNF-alpha gene polymorphisms by PCR-RFLP assay. Logistic regression analysis has revealed significant associations of polymorphism -308G/A with size of ulcerous defect (p=0.03) and intestinal dyspepsia (p=0.05), polymorphism -238G/A with gastric dyspepsia (p=0.04) and reflux-esophagitis (p=0.05), polymorphism -863C/A with perforation of ulcer (p=0.04). The study results highlight impact of the TNF-alpha gene polymorphisms on various clinical features in patients with peptic ulcer disease.


Assuntos
Úlcera Duodenal/genética , Mutação Puntual , Regiões Promotoras Genéticas , Úlcera Gástrica/genética , Fator de Necrose Tumoral alfa/genética , Estudos de Casos e Controles , Úlcera Duodenal/complicações , Úlcera Duodenal/diagnóstico , Úlcera Duodenal/imunologia , Frequência do Gene , Humanos , Modelos Logísticos , Análise Multivariada , Polimorfismo Genético , Índice de Gravidade de Doença , Úlcera Gástrica/complicações , Úlcera Gástrica/diagnóstico , Úlcera Gástrica/imunologia
19.
J Asthma ; 46(5): 523-8, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19544176

RESUMO

BACKGROUND: Recently, we have shown that both antioxidant and oxidant genes are proper candidates for asthma susceptibility genes. OBJECTIVES: In the present study we investigated whether a common polymorphism -463G > A in the promoter of myeloperoxidase (MPO) gene, an enzyme producing hypohalogenic oxidants, is associated with the risk of bronchial asthma. METHODS: We studied 429 unrelated Russian subjects including 215 asthmatic patients and 214 sex- and age-matched healthy controls from Central Russia. The genotyping of the polymorphism -463G > A in the MPO gene was performed by the polymerase chain reaction and the restriction fragment length polymorphism assays. RESULTS: It was found that a carriage of a -463A allele is associated with decreased risk of asthma (OR 0.64 95%CI 0.44-0.91, p = 0.013). Furthermore, variant genotypes (-463GA + AA) of the MPO gene were associated with decreased risk of asthma (OR adjusted by age, gender, and immunoglobulin E (IgE) level was 0.63 95%CI 0.42-0.95), but at a borderline statistical significance (Bonferroni corrected p = 0.017). Further analysis revealed that both a -463A allele and the -463GA/AA genotypes are significantly associated with decreased risk of atopic asthma (p = 0.01). No association of the -463G > A polymorphism of the MPO gene with non-atopic asthma has been revealed. We also found that the allele -463A (OR = 0.47 95%CI 0.27-0.81, p = 0.01) and the -463GA + AA genotypes (OR 0.43 95%CI 0.24-0.78, p = 0.005) are significantly associated with decreased risk of late-onset atopic asthma (the disease onset after 30 years). No association of both allele and genotypes of the polymorphism -463G > A of the MPO gene with early-onset of atopic and non-atopic asthma (the disease before 30 years) was seen. CONCLUSIONS: The results of this study provide novel insights into pathogenesis of bronchial asthma. We put forward a suggestion about a possible mechanism by which the -463G > A polymorphism of the MPO gene is involved into pathogenesis of asthma.


Assuntos
Asma/genética , Hipersensibilidade Imediata/genética , Peroxidase/genética , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Fatores de Risco , Federação Russa , Adulto Jovem
20.
Ter Arkh ; 81(3): 31-5, 2009.
Artigo em Russo | MEDLINE | ID: mdl-19459419

RESUMO

AIM: To evaluate the link between promotional polymorphism -930A > G of the cytochrome b gene (CYBA) and onset of bronchial asthma; to examine effects of this locus on the risk of the disease development depending on the pro- and antioxidant action of environmental factors. MATERIAL AND METHODS: We studied samples of DNA obtained from 214 healthy individuals and 215 patients with bronchial asthma treated in Regional Kursk Hospital. We used polymerase chain reaction and analysed polymorphism of restriction fragments lengths for genotyping of -930A > G polymorphism of CYBA gene. RESULTS: Incidence of a variant allele -930G of CYBA gene among men with nonallergic bronchial asthma (nBA) was higher than in healthy men (OR 1.95; CI 1.02-3.73; p = 0.04). The homozygous variant genotype -930G/G was associated with a high risk of nBA in males (OR 2.66; CI 1.14-6.20; p = 0.02). In healthy individuals polymorphisms -930A > G and 640A > G were in negative linkage equilibrium (D = -0.057; p < 0.001) while in patients such associations were not registered. Male smokers with genotype -930G/G had the highest risk of nBA (OR 2.86; CI 1.06-7.77; p = 0.04) while non-smokers with this genotype had no risk of the disease (OR 1.50; CI 0.11-19.64; p = 0.70). Males with -930G/G on low or no vegetable diet had the highest risk of nBA (OR 3.11; CI 1.01-9.63; p = 0.04) while regular vegetable eaters had no risk to develop nBA (OR 0.73; CI 0.30-1.82; p = 0.50). CONCLUSION: We were the first to find relations between -930A > G polymorphism of CYBA gene and predisposition to nBA. This association exists in males and depends on the smoking status and vegetable diet.


Assuntos
Asma/genética , Predisposição Genética para Doença , NADPH Oxidases/genética , Alelos , Frequência do Gene , Marcadores Genéticos , Genótipo , Haplótipos , Humanos , Masculino , Polimorfismo Genético , Fumar/efeitos adversos , Fumar/genética
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA