Browsing by Author "Anuradha Khanna"

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A case series describing 118 patients with lower limb necrotizing fasciitis
(2009) A.K. Khanna; Satyendra K. Tiwary; Puneet Kumar; Rahul Khanna; Anuradha Khanna
Necrotizing fasciitis of the lower limb is not uncommon, with poor outcome. This study reviewed 118 cases (78 males and 40 females) with mean age of 45 + 16.5 years (range 12-95 years) of lower limb necrotizing fasciitis admitted to the Department of Surgery, BHU in India between 1995 and 2007. Most patients (n = 97) presented with fever. Other presenting symptoms included painful swelling, bullae, erythema, ulcer, and necrosis. Comorbid conditions such as diabetes, tuberculosis, malignancy, and immunosuppressive therapy were associated in 72 (61%) cases. Amputations were done in 24 patients. Thirty one patients developed septic shock. Renal dialysis was done in 16 patients and ventilatory support was needed in 12 patients. The most common organism identified was 2-hemolytic streptococci (n = 42). Eighteen patients died, a mortality of 15%. The authors consider early diagnosis and aggressive surgical intervention to be crucial for the successful treatment of disease. © 2009 Sage Publications.
Altered crosstalk of estradiol and progesterone with Myeloid-derived suppressor cells and Th1/Th2 cytokines in early miscarriage is associated with early breakdown of maternal-fetal tolerance
(Blackwell Publishing Ltd, 2019) Priyanka Verma; Rachna Verma; Rohini R. Nair; Snehil Budhwar; Anuradha Khanna; Nisha Rani Agrawal; Ruchi Sinha; Ruchi Birendra; Singh Rajender; Kiran Singh
Problem: Decline in myeloid-derived suppressor cells (MDSCs) and Th2 cytokines levels lead to early miscarriage (EM) but how the hormonal milieu of the body regulates MDSCs and Th1/Th2 cytokine balance is still a matter of investigation. Method of study: Peripheral blood and decidua samples were collected from 20 EM patients, and 20 healthy pregnant women opted for elective abortion. MDSCs and G-MDSCs levels were analyzed in peripheral blood mononuclear cells, and Th1/Th2 cytokines levels were determined in serum via flow cytometry. Estrogen (E2), Progesterone (P4), and Testosterone levels were measured via ELISA. Further, proliferation and apoptosis in decidual samples were checked via immunoblot/immunohistochemistry of estrogen receptor -α (ER-α), STAT-3/pSTAT-3, and caspase-3, respectively. Results: Our results clearly indicate that in EM patients; decline in E2 and P4 significantly correlates with decline in MDSCs, particularly with subtype granulocytic MDSCs (G-MDSCs) and skewness of the Th1/Th2 cytokines balance toward Th1 response. Downregulation of ER- α and increased caspase-3 expression in endometrium decidua signifies poor endometrial receptivity in EM. STAT-3 activation regulates proliferation, differentiation and suppressive potency of MDSCs. In decidua of EM, significantly lower expression of pSTAT-3 indicates that these processes pertaining to MDSCs are compromised. Conclusion: Altogether, this unfavorable systemic milieu may drive toward early breakdown of maternal-fetal tolerance in EM. Therefore, regulated crosstalk of E2, P4 with MDSCs and balanced Th1/Th2 cytokines is prerequisite for successful pregnancy. © 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Association of FAS -1377 G>A and FAS -670 A>G functional polymorphisms of FAS gene of cell death pathway with recurrent early pregnancy loss risk
(2012) Rohini R. Nair; Anuradha Khanna; Kiran Singh
Apoptosis during the early stages of pregnancy enables the remodeling of the uterus for proper placentation. Apoptosis in the maternal activated cytotoxic T lymphocytes allows maternal immune tolerance to pregnancy and in glandular and stromal cells it helps with trophoblastic endometrial invasion. FAS gene is expressed at the maternal-fetal interface and is involved in the regulation of immune response and implantation. Altered FAS expression may result in altered apoptosis and ultimately affects both immune response and implantation. FAS -1377 G>A and FAS -670 A>G functional polymorphisms in the promoter region of FAS gene modulate its expression at transcriptional level. In a case-control study the contribution of FAS -1377 G>A and FAS -670 A>G polymorphisms to the risk of recurrent early pregnancy loss (REPL) was evaluated. DNA from 134 cases with a history of three or more REPL and 124 healthy controls with successful pregnancy outcomes were genotyped through PCR-RFLP. DNA sequencing was used to ascertain PCR-RFLP results. The genotype and allele frequencies for FAS -1377 G>A and FAS -670 A>G polymorphisms were compared in REPL and controls. FAS -1377 AA and AG genotypes were associated with an increased risk of REPL (OR, 3.25; 95%CI, 1.52-6.98 and OR, 2.62; 95%CI, 1.48-4.64, respectively), whereas FAS -670 genotypes conferred no risk. The -1377 AA/-670 GG genotypes combination of FAS polymorphisms showed highest risk (OR, 8.15; 95%CI, 2.75-25.81). Genotype combinations -1377 GA/-670 AA and -1377 GA/-670 AG were also statistically significant, suggestive of their role in REPL risk. © 2012 Elsevier Ireland Ltd.
Association of GSTT1 and GSTM1 polymorphisms with early pregnancy loss in an Indian population and a meta-analysis
(2013) Rohini R. Nair; Anuradha Khanna; Kiran Singh
Glutathione S-transferase theta 1 (GSTT1) and glutathione S-transferase Mu 1 (GSTM1) enzymes of the glutathione detoxification pathway protect the embryo from oxidative stress. This study investigated GSTT1 and GSTM1 in relation to their role in conferring genetic susceptibility to pregnancy loss. In a case-control study, 174 early pregnancy loss (EPL) patients, of which 130 were recurrent pregnancy loss (RPL) patients, and 180 healthy controls were investigated. Null genotypes of GSTT1 and GSTM1 were identified in duplex PCR reaction systems. Age-adjusted odds ratios (aOR) were calculated by logistic regression analysis. A meta-analysis was also conducted. The GSTT1 null genotype was significantly associated with EPL (aOR 4.47, P = 0.004) and RPL (aOR 4.39, P = 0.006). No significant association of the GSTM1 null genotype was found with RPL. In a meta-analysis study, the presence of the GSTM1 null genotype was shown to be a risk for RPL. The GSTT1 null genotype was not found to be a risk factor for pregnancy loss in the pooled population but its association with RPL was found in the Indian population. This study suggests that women carriers of GSTT1 and GSTM1 null genotypes are more often at genetic risk of pregnancy loss. Glutathione S-transferase theta 1 (GSTT1) and glutathione S-transferase mu 1 (GSTM1), enzymes of detoxification pathway, protect the embryo from oxidative stress. In the present study we have investigated GSTT1 and GSTM1 in relation to their role in conferring genetic susceptibility for early pregnancy loss (EPL) and recurrent pregnancy loss (RPL). Meta-analysis on the polymorphisms was conducted to support our findings that the presence of mutant genotypes at this site increases the risk of pregnancy loss. The GSTT1 null genotype was significantly associated with both EPL and RPL. In the meta-analysis, the overall result showed that the association between GSTM1 null genotype and risk for RPL was statistically significant. On comparing the GSTT1 studies, great heterogeneity was found between studies. A subgroup analysis was performed based on ethnicity. Our results showed a significantly increased risk with the GSTT1 null genotype in the Indian population, but no risk was found in the pooled population. In conclusion, the data of the present study clearly suggest that GSTT1 and GSTM1 polymorphisms are genetic risk factors for pregnancy loss in the study population. © 2012, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
Association of increased S100A8 serum protein with early pregnancy loss
(2015) Rohini R. Nair; Anuradha Khanna; Kiran Singh
Problem: The contribution of systemic S100A8 protein in menstrual cycle, pregnancy, and early pregnancy loss (EPL) is not known. Altered expression of S100A8 in maternal decidua is associated with recurrent early pregnancy loss. The objective of this study was to investigate the systemic level of S100A8 in different phases of menstrual cycle, different trimester of pregnancy, and in EPL. Method of Study: Level of S100A8 was investigated in serum samples of the subjects through enzyme-linked immunosorbent assay (ELISA). Result and Conclusion: S100A8 levels were elevated during proliferative phase of menstural cycle. We found no statistical difference in S100A8 level in different trimester of pregnancy. S100A8 level was found to be significantly elevated in patients with EPL. This is the first study evaluating the systemic level of S100A8 predicting its role during menstural cycle and pregnancy. It opens a new perspective in which S100A8 can be used as a prognostic marker for EPL. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Association of interleukin 1 receptor antagonist (IL1RN) gene polymorphism with recurrent pregnancy loss risk in the North Indian Population and a meta-analysis
(Kluwer Academic Publishers, 2014) Rohini Ravindran Nair; Anuradha Khanna; Kiran Singh
An appropriate ratio of interleukin 1 beta to interleukin 1 receptor antagonist (IL1Ra) is required for successful pregnancy. Our objective was to study the genetic association between IL1RN variable numbers of tandem repeat (VNTR) polymorphism and recurrent pregnancy loss (RPL). To analyze the association between IL1RN VNTR allele and RPL, we investigated the IL1RN VNTR polymorphism in 136 RPL patients and in 200 healthy control women. Meta-analysis on this polymorphism was conducted to support our findings. PCR based approach was used to analyze IL1RN VNTR polymorphism and it was further confirmed by sequencing. Systematic review and meta-analysis was done using electronic database (Pub-Med, Google Scholar and Ovid) up to February 27, 2013. This meta-analysis was assessed by comprehensive meta-analysis software version 2. For meta-analysis 549 cases and 1,450 controls were included. The frequency of IL1RN genotype 2/2 was significantly higher in RPL compared to control group (AORs 3.10, 95 % CI 1.58-6.11, p = 0.001). The presence of rare allele also increased the risk of RPL significantly (ORs 1.63, 95 % CI 1.16-2.29, p = 0.004). The meta-analysis stratified by ethnicity showed that individuals with allele 2 had increased risk of RPL (OR 1.29, 95 % CI 1.04-1.61, p = 0.01), in Asians population by using fixed model. However the data of the present study clearly suggests that IL1RN VNTR polymorphism is a genetic risk factor for pregnancy loss in the study population. © 2014 Springer Science+Business Media.
Association of maternal and fetal MTHFR A1298C polymorphism with the risk of pregnancy loss: A study of an Indian population and a meta-analysis
(Elsevier Inc., 2013) Rohini R. Nair; Anuradha Khanna; Rajender Singh; Kiran Singh
Objective: To study the genetic association between methylenetetrahydrofolate reductase (MTHFR) A1298 polymorphism and recurrent pregnancy loss (RPL). Design: Prospective case-control study, systematic review, and meta-analysis using an electronic database up to July 27, 2012. Setting: Meta-analysis of four studies on RPL and three studies on spontaneously aborted embryos, including the present study. Patient(s): A total of 129 RPL patients and 202 healthy control women with successful pregnancy were analyzed including 40 spontaneously aborted embryos and 40 aborted embryos as control samples. For meta-analysis, 1,080 case and 709 control subjects were included of RPL and 375 case and 384 control samples of spontaneously aborted embryos. Intervention(s): Blood was collected by peripheral venous punctures, and spontaneously aborted embryos were collected by curettage or manual vacuum aspiration. Meta-analysis was done on the basis of heterogeneity of the studies. Main Outcome Measure(s): Genotyping was done by polymerase chain reaction (PCR)-restriction-fragment- length polymorphism (RFLP). DNA sequencing was used to ascertain PCR-RFLP results. Age-adjusted odds ratios were calculated by logistic regression analysis. Meta-analysis on this polymorphism was conducted to support our findings. Result(s): We found that presence of rare allele "C" and heterozygous and rare homozygous genotypes significantly increased the risk of RPL. No significant change in the fetal MTHFR A1298C genotype frequency was observed, regardless of chromosomal integrity. Meta-analysis of A1298C polymorphism on both RPL and in spontaneously aborted embryos showed significantly increased risk in the carriers of AC and CC genotypes. Conclusion(s): The data of the present study clearly suggests that MTHFR A1298C polymorphism is a genetic risk factor for pregnancy loss.
Atypical case of choriocarcinoma with breast metastasis
(Federation of Obstetric and Gynecologycal Societies of India, 2012) Anuradha Khanna; Shweta Singh
[No abstract available]
Bimanual compression therapy of uterine Pseudoaneurysm
(2011) Ashish Verma; Madhavi Verma; Shivi Jain; Ram Chandra Shukla; Anuradha Khanna; Sonali Gupta; Shikha Sachan; Arvind Srivastava
[No abstract available]
CYP1A1 and GSTM1 genes polymorphism and its association with endometriosis : A pilot study
(Elsevier (Singapore) Pte Ltd, 2013) Shikha Sachan; Rohini R Nair; Anuradha Khanna; Kiran Singh
Objective: To study the genetic association between Cytochrome P450 family 1 (CYP1A1) T6235C polymorphism and glutathione S-transferase M1 (GSTM1) null mutations and endometriosis. Methods: A total of 121 unrelated women having complaints of pelvic pain, dysmenorrhea, dysuria, dyschezia, dysparenuia and infertility were enrolled. Out of these 71 consented for laparoscopy, 66 were diagnosed as endometriosis as per operative. Genomic DNA isolated from endometriosis patients and controls were subjected to polymerase chain reactions to determine the GSTM1 null genotypes whereas polymorphism of CYP1A1 T6235C was determined through PCR-RFLP. Results: The GSTM1 null genotype was found to be associated with endometriosis however there was no significant difference in the frequencies of the CYP1A1 6235 CC genotype between endometriosis patients and controls. The homozygous mutant and allele frequency of CYP1A1 T6235C differed significantly between patients having endometriosis and healthy control. Conclusion: The data of the present study clearly suggests that GSTM1 null allele and CYP1A1 C allele is a genetic risk factor for endometriosis in North Indian population. © 2013 Hainan Medical College.
Determinants of uptake of cervical cancer screening in northern india
(Institute of Medico-Legal Publications, 2019) Divya Khanna; Sunita Vashist; Anuradha Khanna; Ajay K. Khanna
Background: The launch of operational framework for India’s first national cancer screening programme in 2016 was a landmark event in the background of poor screening coverage status. Our study aims to determine the factors deciding the uptake of cervical screening amongst women in rural India. Method: A cross-sectional, observational study was carried out amongst the women attending a secondary health centre of a district from Northern India. A total of 1250 women aged above 30 years who were never diagnosed or treated for cervical cancer were enrolled. After taking informed consent all women were interviewed about their bio-social profile and if they ever underwent screening of cervical cancer. Chi-square or Fisher’s exact test was applied to find out significant difference in distribution of bio-social variables (predictors) amongst the study population. The significant predictor variables were subjected to Binary and Multiple Logistic Regression. Unadjusted and Adjusted Prevalence Odds Ratio with 95% Confidence Interval were generated. Results: Religion, working status of the women, history of multiple sexual contacts were important factors influencing the utilization of screening. Conclusion: We conclude that cervical cancer screening is a cost-effective strategy in saving lives. We can tap its benefits only when we identify and remove the hurdles in the utilization of cervical cancer screening. © 2019, Indian Journal of Public Health Research and Development. All rights reserved.
Domestic Violence in Married Women with Mental Illness & Non-Mental Illness
(Institute of Medico-Legal Publications, 2015) Jyoti Srivastava; Indira Sharma; Anuradha Khanna
Background: Domestic violence against women is the most pervasive human rights violation in the world today. According to UNiTE to End Violence against Women (2009) by UN Women, In the United States, one-third of women murdered each year are killed by intimate partners. In South Africa, a woman is killed every 6 hours by an intimate partner. The Objective: To assess the magnitude and causes of domestic violence with mental illness & non-mental illness. Material & Method: The sample of study comprised of 50 women with mental illness and 50 women with non-mental illness. Mental illness patient diagnosed according to with Axis one psychiatric Disorder DSM IV-TR, who were selected from the Psychiatry OPD and ward of the S.S. Hospital, BHU and non-mental illness were be selected from the accompany with patients of Sir Sunder Lal Hospital. The patients were assessed on the structured questionnaire on Domestic Violence. Results – The domestic violence present in married women with mental illness was 72% and non-mental illness was 36%. Perceived causes of domestic violence in married women with mental illness were more compared to those with non-mental illness. The health care personnel should be given an opportunity to update their knowledge regarding domestic violence and there is need education for domestic violence and cessation, so that they can help the women to protect/prevent domestic violence. © 2015, Indian Journal of Public Health Research and Development. All Rights Reserved.
Evaluation of Sassone Sonographic scoring system in various adnexal masses
(2001) Anuradha Khanna; Shweta Garg; R.C. Shukla; Mohan Kumar
Background: For diagnosis of ovarian masses, Sassone has described his scoring system. Aim: To evaluate the efficacy of Sassone Sonographic scoring system for adnexal masses. Material & Methods: Two hundred and fifty cases of adnexal masses underwent transabdominal and transvaginal sonography and detailed study was carried out for size, site, surface, inner wall, echogenicity of tumor and Sassone scoring was applied to look for its sensitivity and specificity. Results: The sensitivity, specificity, positive predictive value and negative predictive value to differentiate benign from malignant masses as per the Sassone sonographic score were 100%, 95.3%, 99.04% and 100% respectively. Conclusions: Sassone sonographic scoring system is a reliable scoring system to differentiate between benign and malignant tumor.
Feotus papyraceous in a monoamniotic monochorionic pregnancy: A case report
(2010) Ruchi Sinha; Sonali Gupta; Shikha Sachan; Anuradha Khanna
Foetus papyraceous or compress is the compressed, mummified, parchment-like remains of a dead twin which is retained in-utero after intrauterine death in the second trimester. It is an uncommon finding. The incidence of foetus papyraceous is reported as 1 in 17,000 to 1 in 20,000 pregnancies. Incidence of foetus papyraceous in twin pregnancy is 1 in 184 to 1 in 200 pregnancies. A case of foetus papyraceous which was discovered following expulsion of a Twin at 17 weeks and 1 day of gestation with low lying placenta in a monochorionic monoamniotic twin pregnancy is reported here.
Fine‐needle aspiration cytology of abdominal masses
(1990) Ajay Kumar Khanna; Mahendra Kumar Misra; Anuradha Khanna; Vijay Kumar Misra; Sushila Khanna
An investigation of the role of blind fine‐needle aspiration cytology (FNAC) in the assessment of palpable abdominal masses was carried out on 196 patients: 124 hepatic, 30 retroperitoneal, and 42 other masses. All of the smears were stained either by Papanicolaou stain or by hematoxylin and eosin stain. The results of FNAC were confirmed by further investigations in all cases. FNAC correctly diagnosed 166 (84.6%) cases. Twenty (10.2%) reports were false negative, and 10 (5.1%) smears were unsatisfactory for any diagnosis. Of 124 hepatic masses, the correct diagnosis was obtained in 106 (85.4%), false‐negative reports in 14 (11.2%), and unsatisfactory smears in 4 (3.2%). There were no false‐positive reports. For all of the lesions, the sensitivity of FNAC was 87.8%; specificity, 100%; positive predictive value, 100%; and negative predictive value, 52.4%. Five (2.5%) patients had considerable pain after the procedure. Copyright © 1990 Wiley‐Liss, Inc., A Wiley Company
Functional SNP -1562C/T in the promoter region of MMP9 and recurrent early pregnancy loss
(2012) Kiran Singh; Rohini R. Nair; Anuradha Khanna
Angiogenesis, invasion and decidualization play an important role in uterine preparation and embryo development. Matrix metalloproteinases (MMP) are crucial for the degradation/remodelling of the extracellular matrix and are involved in spiral artery formation and invasion of endometrium during implantation. A functional single-nucleotide polymorphism (SNP) in the MMP9 promoter, -1562C/T, is known to influence expression in an allele-specific manner. The present study evaluated the association between maternal genotype of SNP -1562C/T of MMP9 and recurrent early pregnancy loss (REPL) risk. This case-control study was comprised of REPL patients (n = 106) and women having one healthy child as controls (n = 111). Genotyping for SNP -1562C/T of MMP9 was performed by PCR/restriction fragment length polymorphism followed by DNA sequencing. Allele and genotype distribution did not differ significantly between patients and controls (by allele, chi-squared 0.228, odds ratio 1.12, 95% confidence interval 0.695-1.816; by genotype, chi-squared 0.893). Thus SNP -1562C/T of MMP9 was not associated with REPL risk in this population and further study in other populations will verify whether it is associated with REPL risk or not. REPL is a multifactorial pathology and other genetic or environmental factors may be contributing to the complex aetiology of REPL. Recurrent early pregnancy loss is a multifactorial disease which has maternal and fetal causes. Angiogenesis is required for proper vascular development which is responsible for absorption, exchange of nutrient and other endocrine functions. The gene for matrix metalloproteinase 9 (MMP9) is expressed during early pregnancy. MMP9 is involved in degradation/remodelling of the extracellular matrix. In the endometrium, MMP9 is concerned with spiral artery formation and in the trophoblast with invasion inside the endometrium for implantation. Insufficient or abnormal gestational angiogenesis may be a consequence of aberrant expression of angiogenesis-related genes and may lead to the abnormal growth of the fetus or pregnancy loss. A functional single-nucleotide polymorphism (SNP) in the promoter of MMP9, at position -1562, is known to enhance expression. In the present study we evaluated the association between maternal genotypes of the SNP -1562C/T of MMP9 and recurrent early pregnancy loss risk. The T allele frequency was comparable between the REPL and control groups (19% versus 18%). The allele and genotype distribution also did not differ significantly between groups (by allele, chi-squared 0.228, odds ratio 1.12, 95% CI 0.695-1.816; by genotype, chi-squared 0.893). Thus the SNP -1562C/T of MMP9 is not associated with REPL risk in the analysed patients. A genotype associated with a decrease in MMP9 expression could be linked with impaired/incomplete angiogenesis/invasion and may result in the REPL phenotype. REPL has a multifactorial pathology and thus both genetic/or environmental factors may be contributing to the complex aetiology of REPL. © 2011, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
High Level of APOA1 in Blood and Maternal Fetal Interface Is Associated With Early Miscarriage
(SAGE Publications Inc., 2019) Priyanka Verma; Rohini R. Nair; Suchita Singh; Singh Rajender; Anuradha Khanna; Rajesh K. Jha; Kiran Singh
Early miscarriage (EM) is one of the most devastating obstetrical complications globally affecting the quality of women’s life. In the present study, we aimed to identify proteins that correlate with and could act as biomarkers for EM. We performed 2-dimensional gel electrophoresis in chorionic villi samples followed by mass spectrometry for identification of differential protein expression with EM. Proteomic studies detected a total 124 protein spots, out of which 83 spots were differentially expressed between EM and controls in chorionic villi samples. Matrix assisted laser desorbtion/ionization-time of flight (MALDI-TOF) mass spectrometry analysis revealed Apolipoprotein A1 (APOA1) to be the most upregulated protein in the EM group that was validated by Western blotting and Enzyme-linked immunosorbent assay (ELISA). We found low but not statistically significant level of APOA1 on 21st day of menstruation in comparison to the 7th day. APOA1 level was observed to be the lowest in the first trimester. Hence, this study suggests that low APOA1 expression is critical in establishing pregnancy and elevated APOA1 expression in chorionic villi correlates with EM. Similar observation in serum samples suggests its potential as a marker for the risk of EM. © The Author(s) 2018.
Interleukin-17 gene polymorphisms and the risk of early miscarriage: A case-control study and meta-analysis
(Elsevier B.V., 2018) Priyanka Verma; Rohini R. Nair; Snehil Budhwar; Vertika Singh; Renu Bala; Anuradha Khanna; Nisha R. Agarwal; Punam Rai; Singh Rajender; Kiran Singh
Previous reports clearly suggest that IL-17 have important role in development of systemic and peripheral inflammation in early miscarriage (EM). In the present study, we have investigated the association between genetic variants in IL-17A, IL-17F and susceptibility to EM. We recruited 135 EM patients and 150 controls and used PCR-RFLP method for genotyping the polymorphisms of IL-17A, rs4711998 (−832 A/G), rs8193036 (−692C/T) and IL-17F rs763780 (7488 T/C). No significant difference was observed for all the three polymorphic sites between the EM patients and control group in terms of genotypic (rs4711998, χ2 = 1.95, p = 0.37; rs8193036, χ2 = 1.91, p = 0.38; rs763780, χ2 = 2.45, p = 0.29), and allelic frequencies (rs4711998, OR = 1.19, 95% CI = 0.84 to 1.67, p = 0.35; rs8193036,OR = 1.18, 95% CI = 0.58 to 2.06, p = 0.75; rs763780, OR = 1.5, 95% CI = 0.93 to 2.71, p = 0.11). Further, meta-analysis of IL-17F (rs763780) variant with EM also revealed non-significant association of IL-17F (rs763780) variant with EM in the presence of mutant genotype (CC) via random effect model (p = 0.70, OR = 1.30, 95% CI =0.33–5.11). © 2018
Microdeletion of Y chromosome as a cause of recurrent pregnancy loss
(Wolters Kluwer Medknow Publications, 2015) Shubhra Agarwal; Arjit Agarwal; Anuradha Khanna; Kiran Singh
CONTEXT: In majority of couples experiencing recurrent pregnancy loss (RPL), etiology is still unknown. Two genetic factors have been suggested to underlie miscarriage in a subset of patients, namely skewed X chromosome inactivation in females and Y chromosome microdeletions in their partners. In males, microdeletions of the Y chromosome are known to cause spermatogenetic failure and male infertility. AIMS: The aim of the study was to find out the role of Y chromosome microdeletion in male partners of couples experiencing RPL. SETTINGS AND DESIGN: University hospital and genetic laboratory. Prospective case-control study. SUBJECTS AND METHODS: 59 couples with a history of RPL and 20 fertile controls (FC) with no miscarriage were included in the study. The study subjects were divided into male partners of RPL couples with abnormal semen parameters (AS) (n = 8), and couples with normal semen parameters (NS) (n = 51). Fertile controls with normal semen parameters were (FC) (n = 20). Y chromosome microdeletion was performed on 40 male partners of RPL and 20 FC. STATISTICAL ANALYSIS USED: Chi-square test. P <0.05 were considered statistically significant. RESULTS: 13 of the 40 RPL cases showed deletion in three azoospermia factor loci on the long arm of Y chromosome. The P value was significant with Y chromosome microdeletion in RPL cases as compared to 20 FC where no Y chromosome microdeletion was present. CONCLUSIONS: Y chromosome microdeletion may be an important hidden cause of recurrent pregnancy miscarriage and can be offered to couples with the undiagnosed cause of miscarriage. © 2015 Journal of Human Reproductive Sciences | Published by Wolters Kluwer - Medknow.
MTHFR C677T polymorphism and recurrent early pregnancy loss risk in North Indian population
(2012) Rohini R. Nair; Anuradha Khanna; Kiran Singh
Recurrent early pregnancy loss (REPL) is a multifactorial disorder as both genetic and environmental factors contribute to the development of disease. Folate metabolism is an important mechanism to ensure proper fetal growth. Hyperhomocysteinemia leads to a number of disorders and REPL is one of them. In a case-control study DNA from 106 cases with the history of 3 or more REPL and 140 healthy fertile controls with successful pregnancy outcomes were genotyped for C677T single-nucleotide polymorphism (SNP) of the MTHFR (methylenetetrahydrofolate reductase) gene through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), which was further confirmed by sequencing. Allele frequencies of REPL cases were compared with healthy controls and a statistically significant association was found between REPL and the mutant T allele (χ 2 = 8.786, odds ratio [OR] = 2.20, 95% confidence interval [CI] = 1.323-3.9658, P =.003). The genotype frequencies of SNP C677T also differ significantly between these 2 groups (χ 2 = 8.237, P =.016). The OR for heterozygous CT in the REPL versus controls is 1.9591 (95% CI = 1.0285-3.7318, P =.04). The OR for TT homozygous is 6.3009 (95% CI = 1.2065, P =.02). Combined odds ratio of CT and TT against the control has been calculated as 2.2194 (95% CI = 1.2029-4.0952, P =.02) which is also significant. Thus the present study clearly indicates that homozygosity and heterozygosity for the MTHFR C677T polymorphism confer a 6.3009- and 1.9591-fold increased risk of idiopathic REPL, respectively. © The Author(s) 2012.