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1.
Urologiia ; (1): 76-81, 2017 Apr.
Artigo em Russo | MEDLINE | ID: mdl-28394528

RESUMO

Currently, despite the growing prevalence of female pelvic floor dysfunction, no consensus exists among researchers regarding its etiology and pathogenesis. There is no doubt, however, that this is a multifactorial disorder with a genetic predisposition. The risk for developing pelvic floor dysfunction is determined by the interaction of multiple additive genetic (mutations and/or polymorphic alleles) and environmental factors. This review of the world literature presents a rationale for searching specific molecular genetic factors shaping the structure of the genetic susceptibility to female pelvic floor dysfunction. The pelvic organ prolapse in women has been found to be associated with the rs1800012 polymorphism of the COL1A1 gene, genotype rs1800255-A/A of COL3A1 gene and the rs2228480 polymorphism of ESR1, although this data still controversial and need to be validated in the independent samples. The systematic accumulation of data, their reproduction in different populations and ethnic groups is necessary to further generalize the evidence on the pathogenesis and the functional significance of each gene variant.


Assuntos
Distúrbios do Assoalho Pélvico/genética , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Polimorfismo Genético
2.
Urologiia ; (6): 30-33, 2017 Dec.
Artigo em Russo | MEDLINE | ID: mdl-29376591

RESUMO

RELEVANCE: Collagen type I and III have a significant role in the development of pelvic organ prolapse (POP) and urinary incontinence in women. The role of the COL3A1 gene polymorphism remains debatable. Some studies and meta-analyzes have found a direct correlation between genetic defects and POP, while other researchers have not confirmed this association. This study aimed to investigate the association of the 1800255 COL3A1 gene polymorphism with the development of POP and urinary incontinence in women. MATERIALS AND METHODS: The study group comprised 52 patients (mean age 64.4 years) with verified POP and stress urinary incontinence. The control group included 21 patients without pelvic floor dysfunction. Patients were comparable in age and had at least one or more risk factors for developing pelvic floor dysfunction. Exclusion criteria for both groups were Marfan and Ehlers-Danlos syndromes and a history of surgery for POP or incontinence (for the control group). In all women, saliva samples were collected to detect polymorphism at the rs1800255 locus of the COL3A1 gene. Genotyping was conducted by Sanger sequencing. RESULTS: In patients with isolated genital prolapse, homozygous polymorphism (AA) had a low sensitivity (0.06) but an extremely high specificity (0.95). Heterozygote (GA) had the sensitivity of 0.35, the specificity of 0.53, and the AUC of 0.44. For urinary incontinence by homozygote (AA), sensitivity was 0.08, specificity 0.96, and by heterozygote (GA) 0.45 and 0.63, respectively. For the combination of pelvic prolapse and urinary incontinence by homozygote (AA), sensitivity was 0.07, specificity 1.0, and heterozygote (GA) 0.41 and 0.62, respectively. CONCLUSION: Given the high specificity of the polymorphism at the rs1800255 locus of the COL3A1 gene, determined by the Sanger sequencing, it can be concluded that there is an association between this polymorphism and urinary incontinence and POP in women.


Assuntos
Colágeno Tipo III/genética , Prolapso de Órgão Pélvico/genética , Polimorfismo Genético , Incontinência Urinária/genética , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Prolapso de Órgão Pélvico/patologia , Prolapso de Órgão Pélvico/fisiopatologia , Incontinência Urinária/patologia , Incontinência Urinária/fisiopatologia
4.
Akush Ginekol (Mosk) ; (9): 58-60, 1991 Sep.
Artigo em Russo | MEDLINE | ID: mdl-1746703

RESUMO

A retrospective analysis of the case histories of patients with familial and nonfamilial ovarian carcinomas has shown that patients with the familial condition develop a higher resistance of the body to tumor dissemination and their survival rate is better. This conclusion may be of interest for those who research carcinogenesis mechanisms.


Assuntos
Cistadenocarcinoma/genética , Neoplasias Ovarianas/genética , Adulto , Cistadenocarcinoma/mortalidade , Cistadenocarcinoma/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/mortalidade , Neoplasias Ovarianas/patologia , Ovário/patologia
5.
Vopr Onkol ; 37(2): 211-5, 1991.
Artigo em Russo | MEDLINE | ID: mdl-2014703

RESUMO

Formation of registers of families afflicted by tumors of certain sites and dynamic follow-up of "healthy" members of such families is a new approach to early diagnosis and prevention of cancer. The results of a clinico-genetic study of hormone-dependent tumors of the female genitals and breast served as a basis for the development of a pattern of medico-genetic follow-up which, in turn, may facilitate integration of the above method with treatment for cancer of said and other sites.


Assuntos
Neoplasias da Mama/diagnóstico , Aconselhamento Genético , Neoplasias dos Genitais Femininos/diagnóstico , Adolescente , Adulto , Neoplasias da Mama/genética , Feminino , Neoplasias dos Genitais Femininos/genética , Humanos , Linhagem , Sistema de Registros , U.R.S.S.
6.
Genetika ; 25(6): 1125-7, 1989 Jun.
Artigo em Russo | MEDLINE | ID: mdl-2806898

RESUMO

The distribution of blood groups AB0, Rh, P1, MN and Haptoglobins among ovarian cancer patients was studied. Significant associations between ovarian cancer and B(III) and MN blood groups as well as the 2-1 variant of haptoglobin were revealed. These data should be kept in mind when forming the high risk groups among population, in relation to ovarian cancer.


Assuntos
Marcadores Genéticos , Neoplasias Ovarianas/genética , Antígenos de Grupos Sanguíneos/genética , Feminino , Haptoglobinas/genética , Humanos
7.
Vopr Onkol ; 32(8): 61-5, 1986.
Artigo em Russo | MEDLINE | ID: mdl-3765510

RESUMO

A study of individual and family histories of 200 ovarian cancer patients and 200 healthy controls was concerned with evaluation of 274 factors of risk. It yielded 36 most informative ones. An 80% credibility of screening results was demonstrated when a combination of characteristics was used. Decision rule is recommended as a test for formation of a group at high risk.


Assuntos
Neoplasias Ovarianas/etiologia , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/genética , Risco
8.
Genetika ; 20(5): 849-56, 1984 May.
Artigo em Russo | MEDLINE | ID: mdl-6539727

RESUMO

The frequency of several kinds of cancer among relatives of 200 patients with ovarian cancer was analysed. The annual population incidence was used as a control. Nonrandom familial clustering of ovarian cancer (p less than 0.01) was observed. The frequency of breast cancer in women and that of eosophagal cancer in man was higher than the expected value (p less than 0.05). The risk of ovarian cancer occurrence amounted 9% in women of the first degree of relationship, whereas cumulative risk in a population only reached 1.57% to the age of 90. The patterns of distribution of patients in the pedigrees satisfied the requirements of the multifactorial model. Heritability coefficient was 54.12 +/- 2.49%. Thus, women of the first degree of relationship compose the high risk group.


Assuntos
Genética Populacional , Neoplasias Ovarianas/genética , Adolescente , Adulto , Fatores Etários , Idoso , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Moscou , Neoplasias/epidemiologia , Neoplasias/genética , Neoplasias Ovarianas/epidemiologia , Fenótipo , Risco , População Urbana
9.
Cancer Genet Cytogenet ; 10(2): 143-50, 1983 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-6616434

RESUMO

A family with five ovarian neoplasms in three subsequent generations was studied. Four women had ovarian cancer at age 38, 40, 47, and 53, and one had cystoma ovari at 24. There were other neoplasms and preneoplastic lesions in this family. Several developmental anomalies were revealed, and one of them (a tooth anomaly) may be associated with ovarian tumors. Cytogenetic studies have been carried out on six of the living relatives, including two treated for ovarian neoplasms. The incidence of spontaneous chromosome aberrations was not significantly increased in each of these cases. Polymorphism of constitutive heterochromatin regions was observed in all six individuals. The possible type of inheritance of the ovarian cancer, the significance of the tooth anomaly, and the constitutive heterochromatin polymorphism as cancer markers in this family are discussed.


Assuntos
Carcinoma/genética , Neoplasias Ovarianas/genética , Bandeamento Cromossômico , Feminino , Humanos , Incisivo/anormalidades , Cariotipagem , Neoplasias Ovarianas/complicações , Linhagem , Anormalidades Dentárias/complicações
11.
Vopr Onkol ; 26(12): 84-90, 1980.
Artigo em Russo | MEDLINE | ID: mdl-7467225

RESUMO

Two families with high incidence of ovarian cancer among the 1st and 2nd degree relatives are described. These were four sisters suffering it in one family (K). In the other family (L) but the proband her mother and two mother's sisters had ovarian cancer. A daughter of the proband at the age of 24 had surgically removed cystoma of the left ovary. In this family in all women with ovarian tumors as well as in their other two relatives congenital teeth anomalies were observed.


Assuntos
Neoplasias Ovarianas/genética , Etnicidade , Feminino , Humanos , Judeus , Pessoa de Meia-Idade , Linhagem , Lesões Pré-Cancerosas/genética , U.R.S.S.
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