Contribution of long noncoding RNA HOTAIR variants to preeclampsia susceptibility in Iranian women.

Objective: To investigate the possible association of lncRNA HOTAIR rs920778 and rs874945 polymorphisms with preeclampsia risk in a sample from the Iranian population. Method: The study subjects included 250 preeclamptic women and 250 healthy women. The genotyping for rs920778 and rs874945 polymorphisms were performed using the TP-ARMS-PCR method. Results: HOTAIR rs920778 increased the risk of preeclampsia under the dominant and recessive inheritance patterns (OR = 4.84, 95% CI: 3.30-7.10, P < 0.0001; OR = 6.86, 95% CI: 3.51-13.42, P < 0.0001; respectively). Conclusion: This study confirmed the association of HOTAIR rs920778 polymorphism with preeclampsia in Iranian women. Further studies should be performed to confirm our findings.

Pregnancy outcomes in women with liver disease: Is pregnancy safe? A cross-sectional study.

BACKGROUND: There is evidence suggesting that the pregnancy outcome may be affected by some medical conditions, such as liver diseases. OBJECTIVE: The present study aimed to investigate the prevalence of liver disease and its outcomes in pregnant women referred to antenatal clinic in the hospital. MATERIALS AND METHODS: In this cross-sectional study, all pregnant women with abnormal liver function test attending antenatal clinic affiliated to Shahid Beheshti University of Medical Sciences were recruited from August 2017 to July 2018. All participants were followed-up until delivery with respect to the maternal and neonatal outcome. RESULTS: Of a total of 7,121 pregnant women recruited in the study, 110 (1.58%) women were detected with a liver disease; of these, 105 women were diagnosed with pregnancy-specific liver diseases, including HELLP syndrome (10.9%), preeclampsia (50.98%), partial HELLP (0.9%), eclampsia (0.9%), acute fatty liver (9.1%), intra-hepatic cholestasis 25 (22.7%), and 5 women the non-pregnancy-specific liver disease, including Liver transplantation (2.7%), and Autoimmune hepatitis (1.8%). Prevalence of the premature birth was 64.5% in pregnancy-specific liver disease, but no premature birth was detected in cases with liver transplantation. We found that neonatal mortality was significantly associated with neonatal prematurity (p = 0.013), IUGR (p < 0.001), placental pathology (p = 0.04), we had no maternal mortality. CONCLUSION: Liver disease is not uncommon in pregnancy. This study demonstrated that pregnancy is safe in women with liver disease.

LncRNA SRA1 may play a role in the uterine leiomyoma tumor growth regarding the MED12 mutation pattern.

BACKGROUND: Uterine leiomyomas (ULMs) are benign uterine tumors that are estrogen-dependent. Recent studies suggest that the abnormal expression of the steroid receptor RNA activator 1 (SRA1) long non-coding RNA (lncRNA) might participate in the mechanisms of tumorigenesis of some hormone-dependent tumors including breast cancer. SRA1 is known to enhance the transcriptional activity of steroid receptors and also promotes steroidogenesis. The level of steroid hormones, such as estrogen and the progesterone, and their receptors play an important role in the development and growth of leiomyoma. The aim of the present study was to determine the expression level of lncRNA SRA1 in ULM tissues considering the MED12 mutation pattern. METHODS: Mutation screening was performed for MED12 exons 1 and 2 and the intronic flanking regions using Sanger sequencing in 60 ULM tissues. Quantitative real-time polymerase chain reaction (qRT-PCRs) was performed in order to estimate the expression of lncRNA SRA1 in leiomyoma samples with and without MED12 gene mutations. The expression results were analyzed by using LinReg and REST software. RESULTS: Mutations were detected in exon 2 of the MED12 in 28 (46.67%) ULM samples; including, 21 (75%) missense mutations and 7 (25%) in-frame deletions. No mutation was detected in the MED12 exon 1. LncRNA SRA1 was over-expressed in ULM samples without MED12 mutation compared with ULM samples harboring MED12 mutation (Expression ratio=2.5, P-value=0.004). CONCLUSION: Present results suggest that lncRNA SRA1 may explain the phenotypic difference observed in the tumor size of ULM samples considering MED12 mutation pattern. Therefore, it serves as a good therapeutic target and provides new insight into understanding the disease molecular mechanism.

MED12 Exon 1 Mutational Screening in Iranian Patients with Uterine Leiomyoma.

BACKGROUND: Uterine leiomyoma, also called fibroid, is a benign tumor that arises due to monoclonal transformation of myometrium, the smooth muscle cell layer of the uterus. Fibroids cause several complications including infertility, miscarriage, bleeding, pain, and dysmenorrhea. Recent studies have revealed the role of mutations in MED12 gene exon 2 in various populations; however, the reported frequency of these mutations differs between reports. In addition, it is suggested that mutations in exon 1 may also play a role in leiomyoma. The aim of the present study was to screen for MED12 exon 1 mutations in leiomyoma tissue samples of Iranian patients. METHODS: We performed mutational analysis of exon 1 and the flanking intronic regions using multi-temperature single-strand conformational polymorphism (MSSCP) and sequencing analyses in 120 uterine leiomyoma samples. RESULTS: No mutations were detected in exon 1 of MED12 in our samples. CONCLUSION: According to the literature and the present results, mutations in the MED12 exon 1 are rare. However, we could not ignore the role of these mutations in developing leiomyoma.

Spontaneous ileocecal perforation induced by deep endometriosis.

Bowel endometriosis is a rare condition that may cause catastrophic complications necessitating immediate medical attention. This report describes the case of a patient diagnosed with endometriosis-induced bowel perforation. Albeit rare, bowel perforations caused by endometriosis should be considered in the differential diagnosis of women of reproductive age with abdominal pain.

Comparison of CAT-21A/T Gene Polymorphism in Women with Preeclampsia and Control Group.

BACKGROUND: Preeclampsia (PE) is one of the main causes of maternal and perinatal mortality and morbidity. Evidence shows that oxidative stress plays an important role in the pathophysiology of the PE. As catalase is a key enzyme in antioxidant enzymatic defense which protects cell from oxidative damage, in this study, we aimed to investigate the relationship between CAT-21A/T (rs7943316) polymorphism and PE susceptibility. MATERIALS AND METHODS: This case-control study was conducted on 155 PE women and 159 normotensive pregnant women. Polymerase chain reaction-restriction fragment length polymorphism method was used for genotyping. RESULTS: There was no association between CAT-21AT and TT genotypes and PE susceptibility. However, the CAT-21A/T polymorphism was associated with 1.6-fold higher risk of PE in dominant model (AA vs. AT + TT) (odds ratio [OR] 1.6 [95% confidence interval [CI]: 0.9-2.9]; P = 0.04). However, the CAT-21A/T polymorphism was not associated with PE in recessive model (TT vs. AA + AT) (OR 1.3 [95% CI: 0.8-2.1]; P = 0.4). CONCLUSIONS: The CAT-21A/T polymorphism could be a risk factor for PE susceptibility in dominant model.

Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.

This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. In this study, novel mutations in MPS related genes were identified attempting to characterize the type and subtype of the disease using molecular approaches. Results of the study positively contribute to mutation spectrum of IDUA, IDS, SGSH, NAGLU, and GALNS genes in the Iranian cohort. It may also enrich genetic counseling for rapid risk assessment and disease management.

The effect of progesterone suppositories on threatened abortion: a randomized clinical trial.

BACKGROUND: Threatened abortion is a common complication of pregnancy. In order to prevent miscarriage in the cases with threatened abortion, this study was conducted to determine whether progesterone suppository is effective in allowing pregnancy to proceed beyond week 20 in women with threatened abortion. METHODS: This single-blind clinical trial study was done on 60 pregnant women with threatened abortion. Pregnant women, who had vaginal bleeding until 20 weeks of their pregnancy, were assessed for inclusion. Participants were divided into two groups by random allocation; the control group, which did not undergo any treatment and the case group. The case group was given 400 mg of vaginal progesterone suppository (Cyclogest) each day until their bleeding stopped in less than one week. Participants were followed up until the end of their pregnancy. The treatment was considered successful if pregnancy continued beyond 20 weeks of gestation. Qualitative and quantitative variables were analyzed statistically by Chi Square and T- test respectively. The p-values of less than 0.05 were considered significant. RESULTS: There was no statistically significant difference between the case and the control groups in terms of background variables. The number of abortions in the case group (6 cases, 20%) was lower than the control group which had 10 abortions (33.3%). CONCLUSION: The study demonstrated that the rate of abortion was reduced in women treated with progesterone suppositories. However, the difference was not statistically significant.

Prevalence of subclinical hypothyroidism in pregnant women in tehran-iran.

BACKGROUND: Maternal subclinical hypothyroidism during pregnancy is associated with various adverse outcomes. Recent consensus guidelines advocate universal thyroid function screening during pregnancy. There are no data from Iran about the prevalence of thyroid hypofunction in pregnancy. This study aims to find the prevalence of thyroid dysfunction. MATERIALS AND METHODS: In this descriptive cross sectional study, thyrotropin (TSH) was measured in 3158 pregnant women irrespective of gestational age from October 2008-March 2012. If TSH was more than 2.5 mIU/L in the first trimester or more than 3 mIU/L in the second or third trimester, free T4 was measured to diagnose subclinical/ overt hypothyroidism. If serum free T4 was in the normal range (0.7-1.8 ng/dl) the diagnosis was subclinical hypothyroidism and if below the normal range, overt hypothyroidism was diagnosed. RESULTS: A total of 3158 pregnant women were evaluated. One hundred forty seven of them were diagnosed as hypothyroidism. Subclinical hypothyroidism and overt hypothyroidism were present in 131 (89.1%) and 16 (10.9%) women respectively. Prevalence of subclinical hypothyroidism was 4.15%. Most of the subclinical and overt hypothyroidism cases were diagnosed in the first trimester. CONCLUSION: It appears logical to check TSH during pregnancy due to the observed prevalence of subclinical hypothyroidism.

Tuboplasty as a reversal macrosurgery for tubal ligation, is pregnancy possible? A case series.

BACKGROUND: Reversal of tubal ligation is requested by some women for various reasons. The present study aims to determine the rate of pregnancy after tubal ligation reversal. CASE: In these case series, we reported fifteen women who requested tuboplasty after tubal ligation. In these cases reversal of tubal ligation was done in 15 women. Pregnancy occurred in 4 women (26.6%). Two term pregnancy and 2 abortions were determined. CONCLUSION: The success rate of pregnancy after macro surgical reversal of tubal ligation is good and can be considered before in vitro fertilization. The type of tubal ligation and the procedure used will determine the best procedure for reversal and have a major impact on chance of success for reversal surgery.

Pregnancy outcomes in women with idiopathic thrombocytopenic purpura.

BACKGROUND: Idiopathic thrombocytopenic purpura (ITP) is a disease that commonly affects women of reproductive age and is associated with maternal and fetal complications. OBJECTIVE: The aim of the present study was to report the perinatal outcome in pregnant women with ITP. MATERIALS AND METHODS: Twenty one pregnant women with ITP admitted in a teaching hospital in Tehran, from October 2008 to February 2010, were enrolled in this prospective historical cohort study; course and perinatal outcome of pregnancies were studied. RESULTS: Seven (33.3%) cases had been diagnosed before pregnancy, while the other fourteen (66.7%) were diagnosed during pregnancy. During hospitalization, thirteen (62%) patients required treatment, eight (61.5%) of them with steroids, two (15.3%) received intravenous immunoglobulin (IVIG), and three (23%) were treated with steroids and IVIG. Three babies were delivered vaginally (14.3%), seventeen (81%) through cesarean section and one patient aborted her fetus. Nine mothers (42.9%) had platelet counts <50000/ml at the time of delivery; but postpartum hemorrhage occurred in 4 (19%) women and one women received platelet transfusion during cesarean section. Six (28.6%) women developed gestational diabetes. Pregnancy was complicated by preeclampsia in one woman and by abruptio placenta in another. One pregnancy terminated in intrauterine fetal death. Seventeen infants (89.5%) had normal platelet counts, and two (10.5%) had moderate thrombocytopenia. No infant showed signs of hemorrhage, but 2 neonates (10.5%) were diagnosed with intrauterine growth restriction. CONCLUSION: Rate of gestational diabetes in pregnant women with ITP is higher than the general population. Rate of gestinational diabetes is 3-5% and postpartum hemorrhage is 5-7% in general. Postpartum hemorrhage is common in these women. Severe thrombocytopenia and bleeding in the newborns are uncommon.

The role of cervical cerclage in pregnancy outcome in women with uterine anomaly.

BACKGROUND: Congenital uterine malformations are the result of disturbances in mullerian duct development. In patients with recurrent miscarriage, the reported frequency of uterine anomalies varies widely, from 1.8% to 37.6%. There are reports in which cervical cerclage has been shown to prevent preterm labor in uterine anomalies. The aim of this study was to compare the role of cervical cerclage in the pregnancy outcome of women with uterine anomaly. METHODS: In this historical cohort study, 40 pregnant women with uterine anomaly were investigated for outcomes of pregnancy in regards to preterm and term deliveries. The participants were divided into two groups: the case group included 26 women with uterine anomaly for whom cervical cerclage was done and the control group was composed of 14 women with uterine anomaly in whom cervical cerclage was not performed. Comparison between the two groups was done and the data were analyzed by the use of chi square, Fisher's exact test and t-test with SPSS software (version 11) and p <0.05 was considered significant. RESULTS: In patients with bicornuate uterus and cervical cerclage, term delivery occurred in 76.2% and preterm delivery in 23.8%. In patients with bicornuate uterus and without cervical cerclage, term delivery occurred in 27.3% and preterm delivery in 72.7% (p <0.05). In patients with arcuate uterus and cervical cerclage, term and preterm deliveries were equal (50% vs. 50%), but in patients with arcuate uterus and without cervical cerclage, term and preterm deliveries occurred in 66.6% and 33.3% of the participants, respectively. CONCLUSION: Cervical cerclage is an effective procedure in bicornuate uterus for the prevention of preterm deliveries but it has no effect on the outcome of pregnancy in arcuate uterus.

Pelvic lymphoma: An unusual presentation.

Pelvic lymphoma is not a common condition and aggressive recurrence of chronic lymphocytic leukemia (CLL) as a cause is rarely reported. We report a case of lymphoma of left adnexa in a postmenopausal woman, with a three week history of abdominal and left flank pain. Past medical history was consistent with diagnosis of CLL. She had received chemotherapy. Due to abdominal and flank pain and abdominopelvic mass, exploratory laparotomy was done with the impression of ovarian malignancy. A large uterus with adnexal mass and a large tumoral bladder was seen. Biopsy was done from adnexal mass which was compatible with lymphoma. The abdomen was closed and the patient was referred for chemotherapy. Lymphoma usually does not involve the pelvic organs. After laparotomy, her condition deteriorated and she expired.

Familial tuberculosis mimicking advanced ovarian cancer.

Genital TB may present as on abdominopelvic mass mimicking ovarian malignancy because clinical and laboratory findings are similar. Family history is very important and should be considered for differential diagnosis. Three cases of genital TB with presentation of abdominopelvic masses and with no signs and symptoms of TB were presented. Two of them had positive family history of pulmonary TB. Tissue diagnosis was the best method for diagnosis of genital TB, but it should be reminded that if positive family history of TB was present, mini laparotomy should be done to take biopsy and to make rapid diagnosis before treatment.

Pregnancy outcome in kidney transplant patients.

INTRODUCTION: Advances in surgical techniques and immunosuppressive therapy have improved the survival and quality of life in organ transplant patients. Thus, the number of organ transplant women at their reproductive age has also increased. We sought to investigate the allograft and obstetric outcomes in pregnant kidney recipients. MATERIALS AND METHODS: Seventy-four kidney recipient women with 95 conceptions during their posttransplant period were evaluated. Pregnancy outcome, kidney allograft function, and maternal, fetal, and neonatal complications were evaluated in these patients. RESULTS: The mean interval between kidney transplantation and pregnancy was 41.0 +/- 9.5 months. Twenty-three pregnancies (24.2%) were unsuccessful due to abortion and stillbirth. The mean birth weight was 2385.0 +/- 161.7 g and 45 newborns (62.5%) had a birth weight less than 2500 g (low birth weight). The mean Apgar score of the live babies was 7.9 +/- 0.7. Forty-four (61.1%) babies were admitted to neonatal intensive care unit and early neonatal death happened in 4 (5.5%). Fifteen mothers (15.78%) had an uneventful perinatal period. The most common maternal complications in the 95 pregnancies were anemia in 62 (65.3%) and preeclampsia in 45 (47.4%). Three patients 3 (3.2%) lost their graft and 6 (6.3%) had impaired kidney allograft function 2 years after pregnancy. CONCLUSION: Pregnant kidney allograft recipients should be considered as high-risk patients needing special care under the supervision of a team of obstetricians and nephrologists.