scholarly journals Investigating Association of rs5918 Human Platelets Antigen 1 and rs1800790 Fibrinogen β Chain as Critical Players with Recurrent Pregnancy Loss

2018 ◽  
Vol 6 (4) ◽  
pp. 98 ◽  
Author(s):  
Fatemeh Karami ◽  
Maliheh Askari ◽  
Mohammad Modarressi

Thrombophilia gene variants have been shown to be associated with higher risk of recurrent pregnancy loss (RPL). Due to the role of human platelets antigen 1 (HPA-1) and fibrinogen β chain (FGB) as critical players in the coagulation process, their most important variants including rs5918 T > C and rs1800790 G > A were selected to be studied in women affected by RPL. Three milliliters of peripheral blood were drawn from 110 women with history of at least two consecutive spontaneous abortion and 110 healthy women controls. rs5918 T > C and rs1800790 G > A of HPA-1 and FGB genes, respectively, were selected to be analyzed through polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) following DNA isolation using QIAamp DNA Blood Mini Kit. Heterozygote genotype (TC) of HPA-1 gene rs5918 polymorphism was significantly associated with risk of RPL (p-value = 0.02). Although, rs1800790 G > A of FGB gene was not associated with RPL, its combination with rs5918 polymorphism was associated with increased risk of RPL. Owing to the critical roles of FGB and HPA-1 genes in coagulation, and thrombosis and several confinements on the meaningful association between the combination of those polymorphism with risk of RPL, including them in the thrombophilia panel may increase detection rate of hereditary thrombophilia patients. However, further studies with larger sample sizes are required to shed light on the exact role of the studied gene polymorphism, especially rs1800790 G > A of FGB gene variant in pathogenesis of RPL.

Author(s):  
Alka Goel ◽  
Pooja Gupta ◽  
Akansha Singh ◽  
Khushboo Singh

Background: Normally, endometrium comprises of non-absorptive epithelium and does not take up stain. Conventional staining with methylene blue is explained on the basis of existence of apoptotic cells in endometrium.Methods: Of 50 patients of unexplained infertility, AUB, recurrent pregnancy loss were randomly selected and included in the study. Those with abnormal ultrasound and history of tuberculosis were excluded. Conventional hysteroscopy was performed using normal saline as distending medium and in those with grossly normal endometrium were subjected to staining with 5% methylene blue instilled trans cervically. After 5 min, irrespective of the size and pattern, focal dark blue stained areas were considered abnormal and randomly biopsied. Incidence of endometritis in both groups was compared after histopathological examination.Results: Of total 50 patients, histopathological report of only one patient with dark blue staining had evidence of endometritis. Rest had no evidence, of which 73.5% had light blue or unstained areas and 26.5% showed dark blue staining. No statistically significant difference was found between histopathological reports and light or dark blue staining (p=0.28). When percentage stained area was considered more than 50% only to be positive, sensitivity was 100%, specificity 94%, PPV 25% and NPV 100%. False positives were 75% and no false negatives were observed. Although p values improved but still statistically insignificant.Conclusions: Present study failed to establish any significant correlation between staining pattern and detection rate of endometritis. With no Indian studies published on chromohysteroscopy so far, role of methylene blue in detection of subtle endometrial changes in modern gynaecology in Indian subpopulation is yet to be established.


2017 ◽  
Vol 79 (2) ◽  
pp. e12799 ◽  
Author(s):  
Yael Lichtman ◽  
Eyal Sheiner ◽  
Tamar Wainstock ◽  
Idit Segal ◽  
Daniella Landau ◽  
...  

Author(s):  
Douaa Al Rez ◽  
Hasan Naser Eldine ◽  
Marwan Alhalabi

Background: Recurrent pregnancy loss (RPL) is a serious problem on the women, it defined as two or more consecutive pregnancy losses before the fetus has reached birth. The aim of this study is to evaluate the association between the elevation in the factor VIII and RPL. Because women who have thrombophilia have increased risk of fetal loss in most studies.Methods: A total 72 women were recruited in this case control study. They divided into two groups: the RPL group included 41 women with a history of recurrent pregnancy loss and the control group included 31 healthy women, who had at least one successful pregnancy and none of them had a history of fetal loss or complicated pregnancy.Results: A majority of the patients of this study didn't have a high level of factor VIII, 9 of 41 (22%) patients of RPL group in comparison with 21 of 32 (65,6%) of control group, that suffer from the increase rate of FVIII, this means that factor VIII doesn't effect on RPL.Conclusions: The present study showed that the serum elevation in the factor VIII is not significantly associated with RPL.


2019 ◽  
Vol 24 ◽  
pp. 239-243
Author(s):  
O. I. Terpyliak ◽  
D. V. Zastavna ◽  
K. O. Sosnina

Aim. Celiac disease (CD) is a multifactorial pathology with high genetic predisposition, and is associated with reproductive health disorders in women. The purpose of the study was to investigate the presence of HLA-DQ2.5 (HLA-DQA1 * 05:01 HLA-DQB1 * 02) and HLA-DQ8 (HLA-DQB1 *03:02) genotypes of predisposition to CD in women with recurrent pregnancy loss. Methods. PCR-SSP (polymerase chain reaction with sequence-specific primers). Results. The increased risk of recurrent pregnancy loss in women is associated with DQ2.5 - the pre-disposition genotype for CD (c2=4.35, P<0,05). Calculation of odds ratio (OR) showed more than 4-fold increase in recurrent pregnancy loss risk in women with HLA-DQ2.5 genotype. Conclusions. The study of HLA markers of celiac disease in women with reproductive loss is important for the purpose of preconceptional prevention of recurrent pregnancy loss. Keywords: celiac disease, recurrent pregnancy loss, HLA markers.


Hematology ◽  
2010 ◽  
Vol 2010 (1) ◽  
pp. 166-172 ◽  
Author(s):  
Shannon M. Bates

Abstract The presence of antiphospholipid antibodies has been associated with an increased risk of recurrent pregnancy loss, and there is evidence to suggest that antithrombotic therapy improves the likelihood of a successful outcome in affected women. Recent studies suggest an association between hereditary thrombophilia and pregnancy loss, although a causal role remains controversial. Although the available data are limited and flawed, there is increasing use of antithrombotic therapy in thrombophilic women with a history of pregnancy failure. Given the absence of proven effective therapy in women with unexplained recurrent loss, there is also growing pressure to intervene with antithrombotics in women with no known underlying thrombophilia. This article reviews the evidence for an association between thrombophilia and recurrent pregnancy loss and the data regarding the use of antithrombotic therapy for prevention of loss—an area that remains particularly challenging because of the paucity of good quality data upon which to base clinical decisions.


Author(s):  
Shyam Pyari Jaiswar ◽  
Apala Priyadarshini ◽  
Apurva Singh ◽  
Mohd Kalim Ahmad ◽  
Sujata Deo ◽  
...  

Abstract Objective The aim of the present study was to examine the relation between the PON1 polymorphisms and recurrent pregnancy loss (RPL). Methods In a cross-sectional study, blood samples were collected from 100 females. DNA was extracted and PON1 genotypes were determined by polymerase chain reaction (PCR) amplification. Results Regarding PON1 L55M, the mutated allele (M) frequency was found in 70.5% in RPL and in 53.5% in controls; the M allele was significantly associated with an increased risk of RPL (adjusted odds ratio [ORadj] = 2.07; 95% confidence interval [CI]; p < 0.001). However, regarding PON1 Q192R, the R mutated allele frequency was found in 28.5% in RPL and in 33% in controls. The R allele did not show any risk for RPL (ORadj 0.81; 95%CI; p = 0.329). Conclusion The present study suggests that there is an effect of genetic polymorphism on RPL and provides additional evidence that combines with the growing information about the ways in which certain PON1 genotypes can affect the development of the fetus in the uterus.


2021 ◽  
Vol 12 ◽  
Author(s):  
Huifen Xiang ◽  
Chunyan Wang ◽  
Hong Pan ◽  
Qian Hu ◽  
Ruyi Wang ◽  
...  

Recurrent pregnancy loss (RPL) is a common reproductive problem affecting around 5% of couples worldwide. At present, about half of RPL cases remained unexplained. Previous studies have suggested an important role for genetic determinants in the etiology of RPL. Here, we performed whole-exome sequencing (WES) analysis on 100 unrelated Han Chinese women with a history of two or more spontaneous abortions. We identified 6736 rare deleterious nonsynonymous variants across all patients. To focus on possible candidate genes, we generated a list of 95 highly relevant genes that were functionally associated with miscarriage according to human and mouse model studies, and found 35 heterozygous variants of 28 RPL-associated genes in 32 patients. Four genes (FOXA2, FGA, F13A1, and KHDC3L) were identified as being strong candidates. The FOXA2 nonsense variant was for the first time reported here in women with RPL. FOXA2 knockdown in HEK-293T cells significantly diminished the mRNA and protein expression levels of LIF, a pivotal factor for maternal receptivity and blastocyst implantation. The other genes, with 29 variants, were involved in angiogenesis, the immune response and inflammation, cell growth and proliferation, which are functionally important processes for implantation and pregnancy. Our study identified several potential causal genetic variants in women with RPL by WES, highlighting the important role of genes controlling coagulation, confirming the pathogenic role of KHDC3L and identifying FOXA2 as a newly identified causal gene in women with RPL.


2021 ◽  
Vol 11 (3) ◽  
pp. 178
Author(s):  
Noah R. Delapaz ◽  
William K. Hor ◽  
Michael Gilbert ◽  
Andrew D. La ◽  
Feiran Liang ◽  
...  

Post-traumatic stress disorder (PTSD) is a prevalent mental disorder marked by psychological and behavioral changes. Currently, there is no consensus of preferred antipsychotics to be used for the treatment of PTSD. We aim to discover whether certain antipsychotics have decreased suicide risk in the PTSD population, as these patients may be at higher risk. A total of 38,807 patients were identified with a diagnosis of PTSD through the ICD9 or ICD10 codes from January 2004 to October 2019. An emulation of randomized clinical trials was conducted to compare the outcomes of suicide-related events (SREs) among PTSD patients who ever used one of eight individual antipsychotics after the diagnosis of PTSD. Exclusion criteria included patients with a history of SREs and a previous history of antipsychotic use within one year before enrollment. Eligible individuals were assigned to a treatment group according to the antipsychotic initiated and followed until stopping current treatment, switching to another same class of drugs, death, or loss to follow up. The primary outcome was to identify the frequency of SREs associated with each antipsychotic. SREs were defined as ideation, attempts, and death by suicide. Pooled logistic regression methods with the Firth option were conducted to compare two drugs for their outcomes using SAS version 9.4 (SAS Institute, Cary, NC, USA). The results were adjusted for baseline characteristics and post-baseline, time-varying confounders. A total of 5294 patients were eligible for enrollment with an average follow up of 7.86 months. A total of 157 SREs were recorded throughout this study. Lurasidone showed a statistically significant decrease in SREs when compared head to head to almost all the other antipsychotics: aripiprazole, haloperidol, olanzapine, quetiapine, risperidone, and ziprasidone (p < 0.0001 and false discovery rate-adjusted p value < 0.0004). In addition, olanzapine was associated with higher SREs than quetiapine and risperidone, and ziprasidone was associated with higher SREs than risperidone. The results of this study suggest that certain antipsychotics may put individuals within the PTSD population at an increased risk of SREs, and that careful consideration may need to be taken when prescribed.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ka Ying Bonnie Ng ◽  
George Cherian ◽  
Alexandra J. Kermack ◽  
Sarah Bailey ◽  
Nick Macklon ◽  
...  

AbstractIt is known that lifestyle factors affect sporadic miscarriage, but the extent of this on RPL (recurrent pregnancy loss) is less well known. A systematic review and meta-analysis was performed to assess the associations between lifestyle factors and RPL. Studies that analysed RPL in the context of BMI, smoking, alcohol and caffeine intake were included. The primary and secondary outcomes were odds of having RPL in the general population and odds of further miscarriage, respectively. Underweight and women with BMI > 25 are at higher odds of RPL in the general population (OR 1.2, 95% CI 1.12–1.28 and OR 1.21, 95% CI 1.06–1.38, respectively). In women with RPL, having BMI > 30 and BMI > 25 has increased odds of further miscarriages (OR 1.77, 95% CI 1.25–2.50 and OR 1.35, 95% CI 1.07–1.72, respectively). The quality of the evidence for our findings was low or very low. Being underweight and BMI > 25 contributes significantly to increased risk of RPL (general population). BMI > 25 or BMI > 30 increases the risk of further miscarriages (RPL population). Larger studies addressing the effects of alcohol, cigarette smoking and caffeine on the risk of RPL with optimisation of BMI in this cohort of women are now needed.


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