Value heterochromatin and polymorphic varian gene folat cycle in women with miscarried and losses of pregnancy

2016 ◽  
pp. 148-151
Author(s):  
Jafar Aliyev Taran Kyzy ◽  
Keyword(s):  
Genetic Counseling ◽  
Gene Polymorphisms ◽  
Chromosomal Polymorphism ◽  
Benign Tumors ◽  
Clinical Effects ◽  
Causal Connection ◽  
Medical Genetic ◽  
History Of ◽  
Polymorphic Variants

The article presents data from surveys of women of losses of pregnancy (LP) in history, conducted within the medical genetic counseling, given the urgency of specifying genetic factors that actually are in causal connection with the LP specification clinical effects of epigenetic variability. The objective: to clarify the meaning of the changes in women heterochromatin (chromosomal polymorphism) and polymorphic variants of genes folat cycle enzymes as potential risk factors and pathogenic primordial LP. Patients and methods. The study involved two groups of women: I - 154 observations with complicated obstetric history in LP and II - 32 healthy women with uncomplicated reproductive history, held preconception planning to prevent pregnancy. Studied genealogical history, especially of internal organs, genitalia. Special studies included cytogenetic analysis, identification of gene polymorphisms system folat cycle methylentetrahydrofolate reductase [MTHFR] (C677T, A1298C, G1793A); methionine synthase reductase [MTRR] (A66G). Results. Women with a history of LP in 36.4% identified chromosome polymorphisms (SNPs extreme variants of chromosome polymorphism) on the background of various risk alleles of polymorphic variants of genes folat cycle; 7.1% of them is a polymorphism of the 21st chromosome. These genetic features are interpreted as a significant risk factor for LP as grounds for targeted in-depth medical and genetic examination. Prevalence among women with a history of PL undifferentiated forms cjnnective tissue and mesoderm dysplasia, benign tumors and «precancerous» states, as well as the prevalence of cardiovascular and psycho-neurological disease in pedigree suggests pathogenetic link these phenomena, the role of chromosomal polymorphism and polymorphic variants of genes of pathogenic folat cycle as primordial. Conclusion. The data on the place and role of heterochromatin and gene polymorphisms folat cycle in the origin LP should be mandatory option when examining women within the medical genetic counseling. Key words: pregnancy, reproductive losses, chromosomal instability, folat cycle genes, ancestry.

scholarly journals KARYOTYPIC ANALYSIS OF CHROMOSOMAL POLYMORPHISM IN RELATION TO REPRODUCTIVE FAILURE

2017 ◽  
Vol 9 (4) ◽  
pp. 140
Author(s):  
Ketan K. Vaghasia ◽  
Nidhi D. Shah ◽  
Parth S. Shah ◽  
Vidhi M. Bhatt ◽  
Sandip C. Shah ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Cytogenetic Analysis ◽  
Reproductive Function ◽  
Chromosomal Polymorphism ◽  
Giemsa Staining ◽  
Karyotypic Analysis ◽  
Blood Samples ◽  
Molecular Studies ◽  
Acrocentric Chromosomes

Objective: This study was undertaken to elucidate the role of heteromorphism in causation of reproductive anomalies like infertility.Methods: In our study, cytogenetic analysis of 830 suspected referral cases of both sexes were assessed using standard karyotypic technique with Giemsa staining from their blood samples. We identified heteromorphism of D/G groups and non-acrocentric chromosomes following WHO nomenclature.Results: Our data revealed that most of our heteromorphic cases (38;4.58%) were related to p arm satellites (ps+) of the chromosomes and are related to infertility and abortion. No significant gender variation was noticed in this study.Conclusion: We hence, suggest that heteromorphism is associated with a loss of reproductive function, as heterochromatin may contain genes that regulate cellular roles in reproduction. Further, it becomes important that such cases are considered for molecular studies, genetic counseling and prenatal/pre-implantation screening.

Quantitating familial cancer risk: a resource for clinical oncologists.

1994 ◽  
Vol 12 (8) ◽  
pp. 1724-1736 ◽  
Author(s):  
K Offit ◽  
K Brown
Keyword(s):  
Genetic Counseling ◽  
Cancer Risk ◽  
Familial Cancer ◽  
Cancer Genetic Counseling ◽  
Cancer Genetic ◽  
Ethical Considerations ◽  
Risk Estimates ◽  
Clinical Counseling ◽  
History Of

PURPOSE Because a family history of cancer constitutes an important risk factor, estimation and communication of cancer risk can facilitate efforts toward early detection and prevention. This review provides a resource for health professionals called to draw upon a multidisciplinary literature to provide quantitative risk estimates to families with cancer. DESIGN Descriptive population-derived, epidemiologic, genetic, genetic epidemiologic, and molecular studies are critically reviewed in the context of cancer genetic counseling. RESULTS Data are presented that document the increased lifetime relative risk to relatives of individuals with cancers of the breast, ovary, colon, prostate, or other sites. In general, risk ratios are poorly suited for clinical counseling. Age-specific absolute risks are presented for first-degree relatives of individuals affected by cancers of the breast, ovary, and colon. The derivation of Mendelian and Bayesian risk estimates in the setting of well-defined cancer family syndromes, and the growing role of DNA testing in more accurately assessing these risks, are discussed. Such carrier testing requires careful psychologic and ethical considerations. CONCLUSION Multidisciplinary cancer genetic counseling is an emerging resource available to physicians who care for families with common adult malignancies.

scholarly journals Solitary Encapsulated Neurofibroma Not Associated with Neurofibromatosis-1 Affecting Tongue in a 73-Year-Old Female

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Sk. Abdul Mahmud ◽  
Neha Shah ◽  
Moumita Chattaraj ◽  
Swagata Gayen
Keyword(s):  
Family History ◽  
Clinical Manifestations ◽  
Surgical Excision ◽  
Neurofibromatosis Type ◽  
Clinical Findings ◽  
Benign Tumors ◽  
History Of

Neurofibromas are benign tumors of nerve cell origin arising due to proliferation of Schwann cells and fibroblasts. They are usually asymptomatic and hence remain undiagnosed. They are commonly found on the skin and intraorally tongue is the most common site for their occurrence. Here, we present a unique case of solitary encapsulated neurofibroma in the oral cavity without any clinical manifestations or family history of Neurofibromatosis type 1 in a 73-year-old female patient who presented with a painless swelling on the tongue. The histopathologic findings closely mimicked benign fibrous histiocytoma. In our case, definitive diagnosis of neurofibroma was made based on clinical findings, family history, and histopathological and immunohistochemical evaluation. Through this case report we want to emphasize the role of biopsy and immunohistochemistry in arriving at a confirmatory diagnosis. The patient was treated by surgical excision and showed no signs of recurrence over a follow-up period of 12 months.

scholarly journals ADRB2 gene polymorphism and preterm labor

2022 ◽  
pp. 9-17
Author(s):  
R. E. Kazakov ◽  
R. A. Chilova ◽  
K. O. Akopov ◽  
E. A. Sokova
Keyword(s):  
Preterm Labor ◽  
Gene Polymorphisms ◽  
Gene Encoding ◽  
Physiological Processes ◽  
History Of ◽  
Β2 Adrenergic Receptor ◽  
Adrb2 Gene ◽  
Scientific Facts ◽  
Relationship Of

This article discusses issues related to the role of polymorphism of the ADRB2 gene encoding β2-adrenergic receptor in preterm labor and tocolysis. Information is provided on scientific studies related to the search for associations of the carriage of alleles and genotypes of ADRB2 with the preterm labor, as well as with the pharmacological response to tocolytic therapy using β2-adrenergic agonists. The history of the discovery of the relationship of ADRB2 gene polymorphisms with preterm labor is presented in chronological order. As scientific facts emerge, researchers are faced with the question: how can ADRB2 gene polymorphisms affect physiological processes? That is, whether they affect by changing the primary structure of the receptor or by changing the level of expression. Depending on the answer to this question, pharmacogenetics are faced with a further task: what to study - individual polymorphisms or haplotypes?

Elaborating the role of reflection and individual differences in the study of folk-economic beliefs

2018 ◽  
Vol 41 ◽  
Author(s):  
Kevin Arceneaux
Keyword(s):  
Decision Making ◽  
Individual Differences ◽  
Cognitive Processes ◽  
Evolutionary History ◽  
Behavioral Responses ◽  
History Of ◽  
Economic Beliefs

AbstractIntuitions guide decision-making, and looking to the evolutionary history of humans illuminates why some behavioral responses are more intuitive than others. Yet a place remains for cognitive processes to second-guess intuitive responses – that is, to be reflective – and individual differences abound in automatic, intuitive processing as well.

The role of a family history of adenocarcinomas in patients with Barrett oesophagus

2001 ◽  
Vol 120 (5) ◽  
pp. A442-A442
Author(s):  
P TSIBOURIS ◽  
M HENDRICKSE ◽  
P ISAACS
Keyword(s):  
Family History ◽  
History Of ◽  
Barrett Oesophagus

Protective Factors and Suicidality in Members of Arab Kindred

Crisis ◽  
2012 ◽  
Vol 33 (2) ◽  
pp. 80-86 ◽  
Author(s):  
Sami Hamdan ◽  
Nadine Melhem ◽  
Israel Orbach ◽  
Ilana Farbstein ◽  
Mohammad El-Haib ◽  
...  
Keyword(s):  
Risk Factors ◽  
Protective Factors ◽  
Suicidal Behavior ◽  
Composite International Diagnostic Interview ◽  
Diagnostic Interview ◽  
Suicidal Risk ◽  
Arab Population ◽  
Psychiatric Interview ◽  
History Of

Background: Relatively little is known about the role of protective factors in an Arab population in the presence of suicidal risk factors. Aims: To examine the role of protective factors in a subsample of in large Arab Kindred participants in the presence of suicidal risk factors. Methods: We assessed protective and risk factors in a sample of 64 participants (16 suicidal and 48 nonsuicidal) between 15 and 55 years of age, using a comprehensive structured psychiatric interview, the Composite International Diagnostic Interview (CIDI), self-reported depression, anxiety, hopelessness, impulsivity, hostility, and suicidal behavior in first-degree and second-relatives. We also used the Religiosity Questionnaire and suicide attitude (SUIATT) and multidimensional perceived support scale. Results: Suicidal as opposed to nonsuicidal participants were more likely to have a lifetime history of major depressive disorder (MDD) (68.8% vs. 22.9% χ2 = 11.17, p = .001), an anxiety disorder (87.5% vs. 22.9, χ2 = 21.02, p < .001), or posttraumatic stress disorder (PTSD) (25% vs. 0.0%, Fisher’s, p = .003). Individuals who are otherwise at high risk for suicidality have a much lower risk when they experience higher perceived social support (3.31 ± 1.36 vs. 4.96 ± 1.40, t = 4.10, df = 62, p < .001), and they have the view that suicide is somehow unacceptable (1.83 ± .10 vs. 1.89 ± .07, t = 2.76, df = 60, p = .008). Conclusions: Taken together with other studies, these data suggest that the augmentation of protective factors could play a very important role in the prevention of incidental and recurrent suicidal behavior in Arab populations, where suicidal behavior in increasing rapidly.

THE ROLE OF RECTAL EUS-FNA/B IN PRE-SACRAL UNDEFINED LESIONS IN PATIENTS WITH HISTORY OF LOWER GI NEOPLASIA

2020 ◽  
Author(s):  
B Mangiavillano ◽  
S Carrara ◽  
E Dabizzi ◽  
F Auriemma ◽  
V Cennamo ◽  
...  
Keyword(s):  
History Of

The problem of periodization of the history of religion

1997 ◽  
pp. 3-8
Author(s):  
Borys Lobovyk
Keyword(s):  
Religious Studies ◽  
Human Being ◽  
Religious Development ◽  
History Of Religion ◽  
The Social ◽  
The World ◽  
History Of ◽  
Role Of Religion

An important problem of religious studies, the history of religion as a branch of knowledge is the periodization process of the development of religious phenomenon. It is precisely here, as in focus, that the question of the essence and meaning of the religious development of the human being of the world, the origin of beliefs and cult, the reasons for the changes in them, the place and role of religion in the social and spiritual process, etc., are converging.

Sign in / Sign up

Export Citation Format

Share Document