ABSTRACT
A structural or functional cervix problem prevents a woman from carrying a full-term pregnancy, which leads to the disease known as cervical insufficiency. Cervical insufficiency is partially inherited, and in certain situations, variations in genes related to connective tissue metabolism may be involved. The main objective of this investigation was to describe the collagen type I alpha 1 chain (COL1A1) gene rs1800012 polymorphism and the transforming growth factor beta 1 (TGFB1) gene rs1800471 polymorphism in a cohort of patients suffering from cervical insufficiency. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) assays have been used to analyze the DNAs of 93 patients with cervical insufficiency and 103 healthy controls. The chi-square test was used for statistical analysis. There were significant differences in the genotype frequencies of the COL1A1 gene rs1800012 (G > T) and TGFB1 gene rs1800471 (G > C) polymorphisms between the patient and the control groups (p = 0.049 and p = 0.049, respectively). Also, the C allele of the TGFB1 rs1800471 polymorphism was significantly higher in the patient group than the control group (p = 0.016). Following clinical assessment, the COL1A1 rs1800012 polymorphism was found to be connected to the history of cerclage (p = 0.010). Additionally, the frequency of the TT/GG composite genotype of COL1A1 rs1800012/TGFB1 rs1800471 polymorphisms was significantly lower in the patient group than the control group (p = 0.049). The TT genotype of COL1A1 rs1800012 polymorphism was found to be protective against cervical insufficiency, while the C allele of TGFB1 rs1800471 polymorphism was found to predispose to the disease. It appears that the TT/GG composite genotype of COL1A1 rs1800012/TGFB1 rs1800471 polymorphisms protects against cervical insufficiency.
ABSTRACT
Congenital anomalies of the kidney and urinary tract (CAKUT) significantly contribute to pediatric morbidity, often necessitating ureterorenal surgery. This study explored the relationship between genetic mutations, renal surgery requirements, and prenatal, postnatal, and parental risk factors in children with CAKUT. A retrospective analysis of 651 children diagnosed with CAKUT included patient demographics, parental risk factors, ultrasound findings, genetic mutations, and surgical incidence. Antenatal ultrasounds showed normal findings in 32.1%, hydronephrosis in 46.9%, and other abnormalities in 21% of cases. Surgical intervention correlated with higher hydronephrosis reduction than non-intervention. Genetic mutations were identified in 5.4% of cases, with 24.6% requiring surgery. Low neonatal birth weight (odds ratio [OR] = 0.98, p < 0.001), advanced maternal age (OR = 1.06, p < 0.001), and postnatal abnormal ultrasound findings (OR = 2.62, p < 0.001) were associated with increased genetic mutation risks. Antenatal hydronephrosis (OR = 3.85, p < 0.001) and postnatal urinary tract infections (OR = 4.85, p < 0.001) increased the likelihood of surgical intervention. Neonatal birth weight, maternal age, and postnatal ultrasound findings were identified as independent risk factors for genetic mutations, while no significant link was found between these genetic factors and the need for surgery. Surgical needs were associated with urinary tract infections and antenatal hydronephrosis, indicating that timely surgical intervention may benefit these patients.
ABSTRACT
We aimed to investigate the promoter methylation status of RASSF1A and RASSF2A tumor suppressor genes in endometrial endometrioid carcinomas with p53 wild type and mismatch repair proficient. Genomic DNAs were isolated from 50 specimens (15 formalin-fixed paraffin embedded tumor tissues, 15 paired blood samples and 20 normal endometrial tissues). Bisulfide modification and methylation-specific polymerase chain reaction were performed. As a result of the study, while no significance was found for RASSF1A gene (p = 0.08), a statistically significance was found for RASSF2A gene (p < 0.001), RASSF2A gene methylation status was also found higher in high grade tumors, advanced age (≥50) and nonsmokers groups. Our results indicate that RASSF2A gene may play a role in the carcinogenesis of endometrioid and it could be potential biomarker for early detection for endometrioid carcinoma. Further and larger investigations are needed to confirm our results.
ABSTRACT
OBJECTIVE: Recurrent pregnancy loss is considerably a reproductive health problem for couples. Genetic, epigenetic, and environmental factors play an important role in the development of recurrent pregnancy loss. While there are many causes, genetic and epigenetic factors are common. In this study, we aimed to examine the association between miR604 (rs2368393) A>G gene polymorphism and the risk of recurrent miscarriage in the Turkish population. METHODS: The study included 250 participants (i.e., 150 patients and 100 controls). DNA samples were isolated from peripheral blood, and polymerase chain reactions and restriction fragment length polymorphism methodologies were applied. RESULTS: The genotype distribution and allele frequencies of miR604A>G gene showed statistically significant differences between patients and control groups (p=0.002 and p<0.002, respectively). CONCLUSION: As a result of the study, we found that the AA genotype and A allele of the miR604A>G gene were statistically significant for the risk of recurrent pregnancy loss in Turkish women.
Subject(s)
Abortion, Habitual , MicroRNAs , Polymorphism, Genetic , Female , Humans , Pregnancy , Abortion, Habitual/genetics , Alleles , Gene Frequency , Genotype , MicroRNAs/geneticsABSTRACT
SUMMARY OBJECTIVE: Recurrent pregnancy loss is considerably a reproductive health problem for couples. Genetic, epigenetic, and environmental factors play an important role in the development of recurrent pregnancy loss. While there are many causes, genetic and epigenetic factors are common. In this study, we aimed to examine the association between miR604 (rs2368393) A>G gene polymorphism and the risk of recurrent miscarriage in the Turkish population. METHODS: The study included 250 participants (i.e., 150 patients and 100 controls). DNA samples were isolated from peripheral blood, and polymerase chain reactions and restriction fragment length polymorphism methodologies were applied. RESULTS: The genotype distribution and allele frequencies of miR604A>G gene showed statistically significant differences between patients and control groups (p=0.002 and p<0.002, respectively). CONCLUSION: As a result of the study, we found that the AA genotype and A allele of the miR604A>G gene were statistically significant for the risk of recurrent pregnancy loss in Turkish women.
ABSTRACT
PURPOSE: This study aimed to compare the results of patients with laparoscopic lateral suspension (LLS) and sacrospinous fixation (SSF). METHODS: This prospective observational study included 52 patients who underwent LLS and 53 patients who underwent SSF due to pelvic organ prolapse. The pelvic organ prolapse's anatomical cure and the frequency of recurrence have been recorded. Female Sexual Function Index, Pelvic Organ Prolapse Symptom Score, and complications were evaluated preoperatively and at the postoperative 24th month. RESULTS: In the LLS group, the subjective treatment rate was 88.4% and the anatomical cure rate for apical prolapse was 96.1%. In the SSF group, the subjective treatment rate was 83.0% and the anatomical cure rate for apical prolapse was 90.5%. There was a significant difference between the groups regarding Clavien-Dindo classification and reoperation (p < 0.05). Female Sexual Function Index, and the Pelvic Organ Prolapse Symptom Score were different between the groups (p < 0.05). CONCLUSIONS: This study showed that there is no difference between two surgical techniques in apical prolapse cure rates. However, the LLS seem preferable in terms of the Female Sexual Function Index, Pelvic Organ Prolapse Symptom Score, reoperation, and complications. We need larger sample size studies in terms of incidence of complications and reoperation.
Subject(s)
Laparoscopy , Pelvic Organ Prolapse , Humans , Female , Follow-Up Studies , Pelvic Organ Prolapse/etiology , Gynecologic Surgical Procedures/adverse effects , Gynecologic Surgical Procedures/methods , Prospective Studies , Laparoscopy/adverse effects , Treatment Outcome , Ligaments , Surgical Mesh/adverse effectsABSTRACT
The diagnosis of endometriosis may delay for many years due to non-deterministic symptoms and avoiding surgical interventions. Kisspeptins are hormones that interact with endometrial tissue to limit invasions during placentation and various cancers and are suggested to be also associated with endometriosis. This study evaluated if serum kisspeptin levels are associated with the invasion depth in endometriosis. Forty patients between 18 and 45 years of age and admitted to a tertiary-care Obstetrics and Gynecology Department between 2020 and 2021 with a diagnosis of endometriosis, and 40 patients without endometrioma were included in the study. Demographic, obstetric, clinical, and biochemical characteristics were evaluated in patients with superficial (SE) and deep infiltrating (DIE) endometriosis and healthy controls. Twenty patients (50%) had SE, 14 (35%) had DIE, and 22 (55%) had endometrioma in the patient group. Fertility rates were higher among controls, but similar between patients with SE and DIE. CA125 levels were significantly higher in the DIE group. SE and DIE groups had similar kisspeptin values, significantly higher than controls. CA125 and kisspeptin levels were not correlated in study groups. Serum kisspeptin levels were significantly different between endometriosis patients and healthy controls. However, kisspeptin levels were unable to differentiate endometriosis severity. Our results suggest that kisspeptins might play a role in the pathogenesis of endometriosis, which needs further assessment in more comprehensive studies.
Subject(s)
Endometriosis , Kisspeptins , Female , Humans , CA-125 Antigen/blood , Endometriosis/blood , Endometriosis/etiology , Endometriosis/pathology , Endometriosis/physiopathology , Kisspeptins/blood , Ovary/pathology , Prospective Studies , Adolescent , Young Adult , Adult , Middle AgedSubject(s)
COVID-19 , Mediastinal Emphysema , Female , Humans , Mediastinal Emphysema/diagnostic imaging , Pregnancy , Pregnant Women , SARS-CoV-2 , Tomography, X-Ray ComputedSubject(s)
Humans , Female , Pregnancy , COVID-19 , Mediastinal Emphysema/diagnostic imaging , Tomography, X-Ray Computed , Pregnant Women , SARS-CoV-2ABSTRACT
ABSTRACT BACKGROUND: It is very common to offer low molecular weight heparin (LMWH) medications to women with unexplained habitual abortion, to increase the livebirth rate. Although no benefit from LMWH has been clearly demonstrated, examination of the effects of enoxaparin on placental structure is lacking. OBJECTIVE: To assess placental structural changes in pregnancies treated with enoxaparin, compared with controls. DESIGN AND SETTING: Case-control study in an obstetrics and gynecology unit of a tertiary-level university hospital in Turkey. METHODS: Forty patients who had had term pregnancies and live births but also histories of habitual abortion were recruited for this study. Placentas were sampled using a systematic random sampling method. Tissue samples were obtained, embedded and sectioned for routine histological analyses. Hematoxylin and eosin staining was used. Surface area and length estimates from placental components were evaluated by using Image J. Cell proliferation and apoptosis were also assessed via immunohistochemistry. RESULTS: There were no significant differences between the groups regarding maternal age, abortion rate, birth weight or gestational age. Comparison of the enoxaparin and control groups showed that there were no significant differences in terms of surface area and ratios of placental components. We found that Bcl-2 was generally expressed at high levels in the enoxaparin group, while there was no difference in terms of Ki-67 between the groups. CONCLUSIONS: This study demonstrates that enoxaparin did not show any significant effect on the placental structure of cases that had histories of habitual abortion.
Subject(s)
Humans , Female , Pregnancy , Adult , Placenta/drug effects , Abortion, Habitual/etiology , Enoxaparin/pharmacology , Anticoagulants/pharmacology , Turkey , Case-Control Studies , Enoxaparin/administration & dosage , Heparin, Low-Molecular-Weight , Anticoagulants/administration & dosageABSTRACT
BACKGROUND: It is very common to offer low molecular weight heparin (LMWH) medications to women with unexplained habitual abortion, to increase the livebirth rate. Although no benefit from LMWH has been clearly demonstrated, examination of the effects of enoxaparin on placental structure is lacking. OBJECTIVE: To assess placental structural changes in pregnancies treated with enoxaparin, compared with controls. DESIGN AND SETTING: Case-control study in an obstetrics and gynecology unit of a tertiary-level university hospital in Turkey. METHODS: Forty patients who had had term pregnancies and live births but also histories of habitual abortion were recruited for this study. Placentas were sampled using a systematic random sampling method. Tissue samples were obtained, embedded and sectioned for routine histological analyses. Hematoxylin and eosin staining was used. Surface area and length estimates from placental components were evaluated by using Image J. Cell proliferation and apoptosis were also assessed via immunohistochemistry. RESULTS: There were no significant differences between the groups regarding maternal age, abortion rate, birth weight or gestational age. Comparison of the enoxaparin and control groups showed that there were no significant differences in terms of surface area and ratios of placental components. We found that Bcl-2 was generally expressed at high levels in the enoxaparin group, while there was no difference in terms of Ki-67 between the groups. CONCLUSIONS: This study demonstrates that enoxaparin did not show any significant effect on the placental structure of cases that had histories of habitual abortion.
Subject(s)
Abortion, Habitual/etiology , Anticoagulants/pharmacology , Enoxaparin/pharmacology , Placenta/drug effects , Adult , Anticoagulants/administration & dosage , Case-Control Studies , Enoxaparin/administration & dosage , Female , Heparin, Low-Molecular-Weight , Humans , Pregnancy , TurkeyABSTRACT
PURPOSE: The aim of this study was to compare the tumor-free and overall survival rates between patients with low-risk endometrial cancer who underwent surgical staging and those who did not undergo surgical staging. MATERIALS AND METHODS: Data, including demographic characteristics, grade of the tumor, myometrial invasion, cervical involvement, peritoneal washing, lymph node involvement, lymphovascular space invasion, postoperative complication, adjuvant treatment, cancer recurrence, and tumor-free and overall survival rates, for patients with low-risk endometrioid endometrial cancer who were treated surgically with and without pelvic and paraaortic lymph node dissection (LND) were analyzed retrospectively. The patients diagnosed with endometrioid endometrial cancer including the following criteria were considered low-risk: 1) a grade 1 (G1) or grade 2 (G2) endometrioid histology; 2) myometrial invasion of <50% upon magnetic resonance imaging (MRI); 3) no stromal glandular or stromal invasion upon MRI; and 4) no evidence of intra-abdominal metastasis. Then the patients at low-risk were divided into two groups; group 1 (n=117): patients treated surgically with pelvic and paraaortic LND and group 2 (n=170): patients treated surgically without pelvic and paraaortic LND. RESULTS: There was no statistical significance when the groups were compared in terms of lymphovascular space invasion, cervical involvement, positive cytology, and recurrence, whereas the administration of an adjuvant therapy was higher in group 2 (p<0.005). The number of patients with positive pelvic nodes and the number of metastatic pelvic nodes were significantly higher in the group with positive LVI than in the group without LVI (p<0.005). No statistically significant differences were detected between the groups in terms of tumor-free survival (p=0.981) and overall survival (p=0.166). CONCLUSIONS: Total hysterectomy with bilateral salpingo-oophorectomy and stage-adapted postoperative adjuvant therapy without pelvic and/or paraaortic lymphadenectomy may be safe and efficient treatments for low-risk endometrial cancer.