scholarly journals Study of RsaI polymorphism of the ERβ gene in Greek women with endometriosis

2020 ◽  
Vol 19 (3) ◽  
pp. 115-122
Author(s):  
Elli Anagnostou ◽  
Agathi Theodoropoulou ◽  
Despina Mavrogianni ◽  
Athanasios Protopapas ◽  
Peter Drakakis ◽  
...  
Keyword(s):  
Estrogen Receptor ◽  
Control Group ◽  
Genetic Profile ◽  
Genotype Distribution ◽  
Female Population ◽  
Infertile Women ◽  
Caucasian Origin ◽  
Rsai Polymorphism ◽  
Esr2 Gene

Estrogens and estrogen receptors (ERs) play an important role in the pathogenesis of endometriosis. The aim of this study was to investigate the presence of gene polymorphism RsaI in the gene of the estrogen receptor ERβ in the Greek female population, and its distribution in women suffering from endometriosis and in a control group. We included 67 consecutive infertile women of Caucasian origin who were operated laparoscopically in our Gynecological Endoscopy Unit for endometriosis, and 96 women participated as control group. Patients were genotyped for RsaI (G/A, rs1256049) polymorphism in ESR2 exon 5, using real-time PCR. The patients’ genotype distribution did not differ from the control group. There were no women homozygous for the polymorphic allele in neither group. The different genotypes of ESR2 could not be associated with the stage of endometriosis. The data of this study point that in Greek population who had proven endometriosis the determination of RsaI polymorphism of ESR2 gene doesn’t offer any information for the progression of endometriosis, regarding the genetic profile of this particular gene.

scholarly journals An Interdependence between Estrogen Receptor 1 Gene Polymorphisms and Susceptibility to Breast Cancer

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Maryam Saneipour ◽  
Abdolkarim Sheikhi ◽  
Abbas Moridnia
Keyword(s):  
Breast Cancer ◽  
Estrogen Receptor ◽  
Allele Frequency ◽  
Genetic Alterations ◽  
Recessive Model ◽  
Control Group ◽  
Genotype Distribution ◽  
Increased Risk ◽  
Significant Difference ◽  
Estrogen Receptor 1

Background: Breast cancer (BC) is the most common malignant tumor in women around the world. Genetic factors do play a vital role in the development and progression of BC. Genetic alterations in the ESR1 (estrogen receptor 1) gene can lead to estrogen dysfunction and increased risk for BC. Nevertheless, due to genetic diversity, the information from different studies is contradictory and controversial. Objectives: This study aimed to investigate the potential relationship between the rs1801132 and rs2234693 single nucleotide polymorphism (SNPs) of the ESR1 gene with susceptibility to BC in the Iranian population. Methods: The genotyping of the rs2234693 and rs1801132 SNPs was assessed in 63 BC patients referred to Imam Hasan Mojtaba Center, which is a charity-based foundation for cancer care in Dezful, Iran, from March 2018 to November 2019. Also, 65 healthy women were selected as a control group. The genotyping of the SNPs was performed using the high-resolution melting (HRM) technique and confirmed by DNA sequencing. Results: The genotype distribution and allele frequency of the rs2234693 SNP were significantly different in BC patients compared to the control group (genotype frequency with P = 0.018 and allele frequency with P = 0.004, OR = 2.085, 95% CI = 1.253 -3.468). In genetic models, rs2234693 increased BC risk in recessive model (P = 0.005, OR = 2.813, 95% CI = 1.363 - 5.802). However, there was no significant difference regarding genotype distribution of the rs1801132 SNP between the BC patients and controls. Conclusions: Our results showed that the CC genotype of the rs2234693 SNP is significantly associated with BC. Accordingly, it can be suggested that the rs2234693 SNP be considered for susceptibility to BC.

scholarly journals Genotype association of IP6K3 gene with Hashimoto’s thyroiditis in Algerian population (Aures region)

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Warda Kherrour ◽  
Dean Kalicanin ◽  
Luka Brčić ◽  
Leila Hambaba ◽  
Mouloud Yahia ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Hashimoto’S Thyroiditis ◽  
Genome Wide Association Study ◽  
Hashimoto's Thyroiditis ◽  
Control Group ◽  
Genotype Distribution ◽  
Algerian Population ◽  
Nominal Significance ◽  
Caucasian Origin ◽  
Genotypic Association

Abstract Background Hashimoto’s thyroiditis (HT) is a chronic autoimmune disease of the thyroid gland and is also the main cause of hypothyroidism. A recent genome-wide association study (GWAS) suggested an association of three novel genetic variants with HT in a population of Caucasian origin (Croatian). A case-control study was performed to investigate the association of these three newly suggested genetic variants with HT in a non-Caucasian ethnic group, an Arab-Berber from Algeria. Three variants (rs12944194 located 206 kb from SDK2, rs791903 inside IP6K3, and rs75201096 inside GNA14) were genotyped using real-time PCR. Results There were no significant differences in allele frequencies of the three genetic variants between HT cases and controls. However, the present study showed nominal significance in the genotype distribution of rs791903 (IP6K3 gene) between HT patients and the control group (P = 0.024); we observed a decrease in the frequency of rs791903 recessive homozygotes (CC) in HT cases versus controls (OR = 0.476, P = 0.025). Conclusion This is the first study that showed the genotypic association of IP6K3 intronic variant with decreased risk for HT in non-Caucasian, Algerian, population, whereas we did not confirm the association of SDK2 and GNA14 genetic variants with HT. The IP6K3 gene (inositol hexaphosphate kinase 3), located near major histocompatibility complex (MHC), has previously been associated with other common autoimmune diseases beside HT, such as Graves’s disease and rheumatoid arthritis, which is providing more evidence of a good candidacy for the genetic contribution to the development of HT and autoimmunity.

scholarly journals Polymorphism of the estrogen receptor β gene is related to infertility and infertility-associated endometriosis

2010 ◽  
Vol 54 (6) ◽  
pp. 567-571 ◽  
Author(s):  
Karina Zulli ◽  
Bianca Bianco ◽  
Fernanda Abani Mafra ◽  
Juliana Souto Teles ◽  
Denise Maria Christofolini ◽  
...  
Keyword(s):  
Estrogen Receptor ◽  
Fragment Length Polymorphism ◽  
Estrogen Receptor Β ◽  
Control Group ◽  
Heterozygous Genotype ◽  
Infertile Women ◽  
Homozygous Genotype ◽  
Polymerase Chain ◽  
Control Study ◽  
Fertile Women

OBJECTIVE: To determine the frequency of the estrogen receptor b gene (ERβ) +1730 G/A polymorphism in infertile women with and without endometriosis and controls. SUBJECTS AND METHODS: Case-control study that included 136 women with endometriosis, 69 women without endometriosis and 209 fertile women as controls. The ERβ gene + 1730 G/A polymorphism was identified by RFLP-PCR (Restriction Fragment Length Polymorphism - Polymerase Chain Reaction). RESULTS: Genotypes GG, GA and AA of the ERβ gene presented frequencies of 60.3%, 38.2% and 1.5%, respectively, in the women with endometriosis (p < 0.0022). Of the infertile women without endometriosis, 63.8% presented the normal homozygous genotype GG, 30.4% the GA heterozygous genotype, and 5.8% the homozygous mutated genotype AA (p < 0.0275). In the control group, 77.5% presented the normal homozygous genotype GG, 21.1% the heterozygous genotype GA, and 1.4% the homozygous mutated genotype AA. CONCLUSION: The data suggest that the estrogen receptor β gene (ERβ) +1730 G/A polymorphism can be associated with risk of infertility and endometriosis-associated infertility.

FRACTIONAL DETERMINATIONS OF URINARY 17-KETOSTEROIDS IN HYPEREMESIS GRAVIDARUM

1962 ◽  
Vol 41 (1) ◽  
pp. 123-128 ◽  
Author(s):  
Pentti A. Järvinen ◽  
Sykkö Pesonen ◽  
Pirkko Väänänen
Keyword(s):  
Hyperemesis Gravidarum ◽  
First Trimester ◽  
Control Group ◽  
Before And After ◽  
Daily Urine ◽  
First Trimester Of Pregnancy ◽  
The Difference

ABSTRACT The fractional determination of 17-ketosteroids in the daily urine was performed in nine cases of hyperemesis gravidarum and in four control cases, in the first trimester of pregnancy both before and after corticotrophin administration. The excretion of total 17-KS is similar in the two groups. Only in the hyperemesis group does the excretion of total 17-KS increase significantly after corticotrophin administration. The fractional determination reveals no difference between the two groups of patients with regard to the values of the fractions U (unidentified 17-KS), A (androsterone) and Rest (11-oxygenated 17-KS). The excretion of dehydroepiandrosterone is significantly higher in the hyperemesis group than in the control group. The excretion of androstanolone seems to be lower in the hyperemesis group than in the control group, but the difference is not statistically significant. The differences in the correlation between dehydroepiandrosterone and androstanolone in the two groups is significant. The high excretion of dehydroepiandrosterone and low excretion of androstanolone in cases of hyperemesis gravidarum is a sign of adrenal dysfunction.

Anamnestic factors that shape reproductive health of women with repeated unsuccessful popygamy in vitro fertilization

2016 ◽  
pp. 140-143
Author(s):  
N.V. Cotsabin ◽  
◽  
O.M. Makarchuk ◽  
Keyword(s):  
High Risk ◽  
Risk Group ◽  
Polycystic Ovary ◽  
High Risk Group ◽  
Stress Factors ◽  
Control Group ◽  
Fertilization In Vitro ◽  
Infertile Women ◽  
Group I

The proportion of patients with multiple unsuccessful attempts of assisted reproductive technology (ART) is about 30% of all patients treated with the use of ART. Women with history of unsuccessful ART attempts - a special category of patients who require emergency attention and a thorough examination at the stage of preparation for superovulation stimulation,the selection of embryos and endometrium preparation for embryo transfer. The objective: to distinguish high-risk group of unsuccessful attempts based on a detailed analysis of anamnestic and clinical data of infertile women with repeated unsuccessful ART attempts that requires more in-depth study of hormonal features, ovarian reserve and condition of the endometrium. Materials and methods. For better understanding of the problem of repeated unsuccessful ART attempts and сreation of efficient infertility treatment algorithms for these couples we conducted a thorough analysis of anamnestic data of three groups of infertile women (105 patients), which were distributed by age: group I – younger than 35, the II group – from 35 to 40, the III group - over 40 years. These groups of patients were compared with each other and with the control group of healthy women (30 persons). Results. Leading stress factors in the percentage three times prevailed in the group of infertile women and had a direct connection with the fact of procedure «fertilization in vitro» and chronic stressors caused by prolonged infertility. Primary infertility was observed significantly more frequent in patients younger than 35 years (p <0.05), secondary infertility - mostly in the second and third experimental groups (p <0.05). Noteworthy significant percentage of wellknown causes of infertility and idiopathic factor in all groups, and the prevalence of tubal-peritoneal factor in the second and third experimental groups, and endocrine dysfunction in the I experimental group. The most common disorder among this category of woman was polycystic ovary syndrome. Frequency of usual miscarriage among patients of I ana II groups was two times higher than in the third group (p <0.05). Among the experimental groups the leading place belongs urinary tract infection, respiratory tract diseases, pathologies of the cardiovascular system. Data of the stratified analysis show an increase likelihood of repeated unsuccessful ART attempts under the influence of constant chronic stress (odds ratio OR=2.06; 95% CI: 0.95–3.17; p<0.05). Conclusions. Among infertile patients with repeated unsuccessful ART attempts must be separated a high risk group of failures. The identity depends on the duration of infertility, female age and leading combination of factors. Key words: repeated unsuccessful ART attempts, anamnesis, infertility, high risk.

Determination of clinical efficiency of deproteinized dialysate from blood of milk-fed calves after endoprosthetics in patients with ventral hernias

2020 ◽  
Vol 28 (3) ◽  
pp. 323-333
Author(s):  
Sergej V. Ivanov ◽  
Ilya S. Ivanov ◽  
Evgenij G. Obyedkov ◽  
Liliya P. Popova
Keyword(s):  
Abdominal Wall ◽  
Inflammatory Reaction ◽  
Inflammatory Process ◽  
Anterior Abdominal Wall ◽  
Dynamic Change ◽  
Main Group ◽  
Control Group ◽  
Surgical Department ◽  
Regeneration Stage

Aim. To study the influence of deproteinized dialysate from blood of milk-fed calves on the type of exudative discharge and dynamics of inflammatory reaction after hernia repair with plastics of the anterior abdominal wall with hernioendoprosthesis of polypropylene. Materials and Methods. The study involved 59 patients being on stationary treatment in the surgical department of Kursk Regional Clinical Hospital. Patients were hospitalized for the herniation of small or medium dimension. The patients were divided to two groups: the main (n=30) and control (n=29) groups. After endoprosthetics, the patients of the control group were given complex conservative treatment. The patients of the main group, besides standard treatment, were administered deproteinized dialysate from blood of milk-fed calves intravenously in drips 10 ml + 200 ml of 0.9% sodium chloride solution within 7 days. For cytological examination and determination of the type of cytograms, the traumatic discharge was collected and analyzed using the method of M.F. Kamaev and M.A. Palthsev. Results. Cytomorphometric examination was conducted on the third, fifth and seventh day after endoprosthetics with the aim of studying dynamic changes. Determination of cell composition and also of its changes characteristic of each studied period, was necessary for obtaining further information characterizing inflammatory process in the region of placement of the endoprosthesis. After endoprosthetics in patients who were administered hemodialysate, the inflammatory reaction was less pronounced than in patients who did not receive the preparation. This was associated with a more dynamic change of stages of the inflammatory process. In patients of the main group who received deproteinized dialysate, regenerative type of inflammation first appeared on the fifth day and made 6.9%; by the seventh day the share of patients with the regenerative type rose to 17.5%, while in the patients of the control group no regeneration stage was observed in both periods. Conclusion. Analysis of the efficiency of influence of hemodialysate on the inflammatory reaction in plastics of the anterior abdominal wall with polypropylene endoprosthesis evidences faster course of all stages of inflammation and reduction of its intensity by 10%.

Individual and Combined Assessment of Ser680Asn FSH Receptor and FSHβ -211 G>T Gene Polymorphisms in Ovarian Response in IVF/ICSI Program

2020 ◽  
Vol 21 ◽  
Author(s):  
Elli Anagnostou ◽  
Alexia Kafkoutsou ◽  
Despina Mavrogianni ◽  
Ekaterini Domali ◽  
Evangelia Dimitroulia ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Gene Polymorphisms ◽  
Ovarian Response ◽  
Greek Population ◽  
Control Group ◽  
Genotype Distribution ◽  
Β Subunit ◽  
Molecular Genetic Study ◽  
The Impact ◽  
First Time

Background: Molecular biology tools, such as the detection of single nucleotide polymorphisms (SNPs), have been considered to assist to the management of the ovarian stimulation protocols. Purpose: The aim of this study was to evaluate the impact of two polymorphisms, the Asn680Ser polymorphism of the FSHR gene, and the FSH β subunit (FSHβ) gene polymorphism -211 G>T, in a Greek population of women undergoing IVF/ICSI program in our center. In addition, a control group of fertile women was studied, to verify whether there are differences in the genotype distribution between fertile and infertile population for both polymorphisms, as the FSHβ gene polymorphism -211 G>T is studied for the first time in the Greek population. Results : The FSH β-211 G>T polymorphism, studied for the first time in the Greek infertile population, appears to be quite rare. When studying the two polymorphisms separately, statistically significant differences were obtained that concerned the LH levels. Discussion: According to the combination analysis of the two polymorphisms by the number of alleles, women with 2-3 polymorphic alleles needed more days of stimulation, but there were no differences in pregnancy rates. Conclusion: This molecular genetic study helps to elucidate whether the polygenic combination of the Asn680Ser and FSH β subunit -211 G>T gene polymorphisms is of additive value in the prediction of ovarian response to exogenous gonadotropins.

Prevalence and distribution of causes of infertility according to women’s age – a cross-sectional study in a tertiary healthcare hospital setup

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Keerthana Dhandapani ◽  
Bhagyalakshmi Kodavanji ◽  
Vinodini Nithyananda Madom Anantharaya ◽  
Nayanatara Arun Kumar
Keyword(s):  
Tertiary Care ◽  
Developed Countries ◽  
Cross Sectional Study ◽  
Female Infertility ◽  
Secondary Infertility ◽  
Cross Sectional ◽  
Female Population ◽  
Infertile Women ◽  
Tertiary Healthcare ◽  
The Individual

Abstract Objectives Infertility has disastrous consequences, particularly for women. Causes of infertility in developed countries have been investigated but there is a significant lack of data among Indian female population. The aim of the present study was to analyze the causes and the proportion of the individual factors contributing to infertility, considering the age factor. Methods The data of 204 infertile women (18–45 years) were collected from the files in tertiary care hospitals. Causes and age of infertile women were grouped. The prevalence of each cause was evaluated. Data analysis was done using SPSS (Statistical Package for Social Sciences) version 17.0. Results Polycystic ovarian syndrome (PCOS) was the most common (14.71%) cause of female infertility. Ovulatory dysfunctions (25.55%) were the foremost cause in primary infertility, whereas in secondary infertility, uterine factors (26.86%) were most common. The incidence of primary and secondary infertility was more evident in patients who were more than 30 years of age. Conclusions Causes of infertility vary according to the age. The causes of female infertility were unexplained infertility, ovulatory disorders and uterine factors most commonly affecting women at ≤30 years.

Leukogram and cortisol parameters in Swiss mice experimentally infected with Angiostrongylus costaricensis

2021 ◽  
Vol 95 ◽  
Author(s):  
E. Benvegnú ◽  
C.C. Hermes ◽  
J.A. Guizzo ◽  
S.M. Soares ◽  
M.M. Costa ◽  
...  
Keyword(s):  
Cytokine Profile ◽  
Control Group ◽  
Necrosis Factor Alpha ◽  
Swiss Mice ◽  
Hypochromic Anaemia ◽  
Third Stage ◽  
Factor Alpha ◽  
Cortisol Levels ◽  
Necrosis Factor

Abstract This study describes changes in haematological parameters, cytokine profile, histopathology and cortisol levels in Swiss mice experimentally infected with Angiostrongylus costaricensis. Twenty-eight Swiss mice were divided into two groups (G1 and G2) of 14 animals each. In each group, eight animals were infected orally with ten third-stage larvae of A. costaricensis and six were used as a control group. The mice of groups G1 and G2 were sacrificed 14 and 24 days after infection, respectively. Samples were collected for histopathological and haematological analyses and determination of the cytokine profile and cortisol levels. Granulomatous reaction, eosinophilic infiltrate and vasculitis in the intestinal tract, pancreas, liver and spleen were observed with varying intensity in infected animals. Our results showed that the mice developed normocytic and hypochromic anaemia, and that the histopathological lesions caused by the experimental infection influenced increases in cortisol, neutrophil and monocyte levels. In addition to this, we detected increased interleukin-6 and tumour necrosis factor alpha levels in the infected animals.

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