Whole exome sequencing reveals novel candidate variants for endometriosis utilizing multiple affected members in a single family.

BACKGROUND: Endometriosis is an estrogen-dependent, chronic inflammatory disease that affects 10% of women during the reproductive ages. Despite the estimated 50% heritability for the condition, only 26% was associated with common genetic variants. Thus, necessity of identifying rare variants for the missing heritability is implicated in the literature. Therefore, our study aimed to identify novel rare genetic variants involved in the pathogenesis of endometriosis utilizing a family of multiple affected members. METHODS: A family composed of four affected women along with their two unaffected mothers were recruited at a single gynecology and infertility clinic specialized in endometriosis. All patients presented with endometriomas, which was visualized by transvaginal ultrasonography. Two affected individuals had received laparoscopic endometrioma excision and therefore were diagnosed with recurrent disease. One mother had a history of endometrial serous adenocarcinoma (ESC) for which she underwent hysterectomy with bilateral oophorectomy. Three endometriosis cases were whole exome sequenced on Illumina NextSeq 550 platform with an average of 90% coverage. Candidate genes were confirmed by Sanger sequencing and followed-up with family segregation. RESULTS: Novel rare variants were identified in TNFRSF1B (NM_001066.3: c.1072G>A, p.(Ala358Thr)) and GEN1 (NM_001130009.3: c.1574C>T, p.(Ser525Leu)) as possible genetic causes of endometriosis. A third novel rare variant was identified in CRABP1 (NM_004378.3:c.54G>C, p.(Glu18Asp)) only on the mother with ESC history and her daughters. CONCLUSION: Novel candidate genetic variants that might contribute to endometriosis were suggested that need replication through independent cohorts or validation by functional studies. The family has also received genetic counseling and that the affected daughters are on clinical follow-up, accordingly.

Serum sestrin 2 levels in patients with uterine leiomyomas.

Our aim was to evaluate SESN2 levels in patients with uterine leiomyomas by comparing serum SESN2 levels in myoma patients with the levels in healthy women to deepen our understanding of the pathophysiology of uterine leiomyomas. Patients 18-50 years of age who applied to the University of Health Sciences Turkey, Istanbul Kanuni Sultan Suleyman Training and Research Hospital between January and March 2021 and who were diagnosed with uterine leiomyoma were defined as the 'myoma group'. The control group included patients without any sign of leiomyomas in routine ultrasonography. The patients' demographic features, gynecological symptoms, myoma volume and classification were recorded. Serum SESN2 concentrations in venous blood samples were measured using a sandwich enzyme-linked immunosorbent assay (ELISA) kit.The study included 31 patients in the myoma group and 30 in the control group. The mean age/gravid/parity or BMI values did not differ significantly between the groups. The only gynecological symptom that showed a significant difference was menorrhagia. Serum SESN2 levels were significantly higher in the myoma group then the control groups (11.7 ± 2.5) (p < 0.001). In conclusion, although uterine leiomyoma is the most common benign tumour in women of reproductive age, there are no known markers for predicting the development of leiomyomas. Based on the results of the current study, SESN2 could be such a marker.IMPACT STATEMENTWhat is already known on this subject? Uterine leiomyoma is the most common type of benign tumour in women of reproductive age as well as the most common indication for a hysterectomy. Symptoms associated with uterine leiomyoma include abnormal bleeding, chronic pelvic pain, menorrhagia, dysmenorrhoea, dyspareunia and anaemia, which adversely affect the patient's quality of life. Sestrins are a family of metabolic regulator proteins that play a potential role in carcinogenesis.What the results of this study add? This is the first study evaluating the role of sestrin in the development of uterine leiomyomas. Significantly higher levels of sestrin 2 (SESN2) were detected in patients with leiomyomas.What are the implications of these findings for clinical practice and/or further research? Although uterine leiomyoma is the most common type of benign tumour in women of reproductive age, there are still many unknowns regarding its pathophysiology. Further, there are still no known markers for predicting the development of leiomyomas. Hence, primary prevention is not possible. Based on the results of the current study SESN2, could be such a marker. Further studies are needed to confirm the results of this study.

Comparison of Depression and Anxiety Scores in Multi/Nulliparous Women who have Undergone Dilatation and Curettage.

AIM: To demonstrate the duration of negative psychological effects of elective curettage on both nulliparous and multiparous women and to determine the association between parity and post-abortion depression and anxiety. MATERIALS AND METHODS: A total of 168 women who applied to our reproductive health clinic for elective abortion were included in this prospective study. 84 nulliparous and 84 multiparous women were asked to fill out Beck Depression Inventory (BDI-II) and Beck Anxiety Inventory (BAI-II) forms by a psychiatrist at their pre-abortion consultation and at 3 months follow-up. A thorough anamnesis with demographic data of each patient was recorded at initial consultation. RESULTS: Depression and anxiety measurements in both groups significantly decreased at the end of the 3 months follow-up. The mean depression value in nullipara group decreased from 24.2 ± 5.8 to 9.4 ± 3.3 and anxiety from 23.5 ± 3.7 to 8.8 ± 2.5. In the multipara group, the mean depression score decreased from 15.7 ± 4.0 to 7.3 ± 2.3, and anxiety from 15.9 ± 4.0 to 7.9 ± 2.3. A significant decrease in both depression and anxiety scores could be observed in both groups. CONCLUSION: Although the severity of depression and anxiety varies between multiparous and nulliparous individuals, this study showed that both depression and anxiety scores return to normal values by the end a 3 months follow-up period.

Postpartum evaluation of the role of maternal characteristics and mode of delivery on maternal attachment, anxiety and depression; a study conducted in Turkey'.

BACKGROUND AND AIM: The primary aim of this study was to compare mother-infant bonding (MIB) in patients who delivered vaginally and who delivered with C/S using Maternal Attachment Inventory (MAI), Edinburgh Postnatal Depression Scale (EPDS) and Postpartum Specific Anxiety Scale (PSAS) in the Turkish population. Secondary aim was to evaluate the correlations between the MAI, EPDS and PSAS scores and their association with sociodemographic data. METHODS: A total of 200 patients were divided into two groups. 100 women who delivered vaginally were included in the vaginal delivery (NVD) group and 100 who delivered with cesarean section were included in the C/S group. The demographic data of the subjects including age, gravidity, and parity, were recorded and a detailed anamnesis was taken at the day of hospitalization for delivery. In addition, newborns' genders were taken into evaluation. All patients were asked to complete MAI, EPDS and PSAS at the 3rd month postpartum control. RESULTS: PSAS score in the NVD group was calculated to be 68.9 ± 9.0, which was significantly higher than C/S group 65.0 ± 9.6 (p = 0.005). However, MAI and EPDS scores in both groups were calculated to be similar (p = 0.833 and p = 0.260, respectively). A significant negative correlation was observed between age and MAI (r = -0.180, p = 0.011) and between number of children and MAI (r = -0.140, p = 0.048). CONCLUSIONS: According to the results of this study which was conducted using a Turkish cohort maternal age at delivery and number of children at home are the factors which had an effect on MIB. On the other hand, mode of delivery did not play a role on MIB among this study population. However, multicenter studies with larger number of subjects are needed to make a general conclusion regarding the Turkish population.

Evaluation of Oxidative Stress in Ectopic Pregnancies.

PURPOSE: The aim of the study is to show the relationship between oxidative stress and ectopic pregnancy. MATERIALS AND METHODS: A total of 62 patients, 31 in the ectopic pregnancy group (study group) and 31 in the first-trimester pregnancy (control group) were included in the study. Patients between 18-45 years of age who had tubal ectopic pregnancy diagnosed by transvaginal ultrasonography and serum ß-HCG values were included in the study group. Serum thiol- disulfide hemostasis were measured from venous blood. RESULTS: Between the control group and the ectopic pregnant group; there was no statistically significant difference in terms of age, total thiol, albumin, disulfide, index 1 (disulfide / total thiol), index 2 (disulfide / native thiol), and index 3 levels (p> 0.05). The area under the ROC curve for native thiol measurements was statistically significant in distinguishing the control group and the ectopic pregnant group [AUC = 0.657, 95% CI: 0.521-0.793, p = 0.034] Conclusion: This study shows that ectopic pregnancies may be associated with the presence of high oxidative stress. Especially in early stage suspected patients, demonstrating the presence of oxidative stress together with serial ß-HCG follow-up may be helpful in diagnosis.

Prenatal diagnosis and postnatal outcomes of right aortic arch anomalies.

PURPOSE: To give a report on the experience of our tertiary perinatology clinic on the pre- and postnatal management of the right aortic arch (RAA) by evaluating the patients as isolated and non-isolated RAA. MATERIALS AND METHODS: Patients referred to our perinatology clinic for fetal echocardiography were evaluated retrospectively. They were assessed in two groups: isolated RAA and non-isolated RAA. The isolated RAA group consisted of patients without any additional cardiac or extracardiac anomalies. According to our routine practice, all patients received detailed prenatal ultrasonography following fetal echocardiography and genetic counseling. RESULTS: A total of 60 patients were evaluated. 38 patients (63.3%) presented with additional cardiac anomalies. 21.7% had extracardiac anomalies, including 16.7% who also had cardiac anomalies. In 2 patients (3.7%) 22q11.2 microdeletion, in 2 patients (3.7%) trisomy 21, in 1 patient (1.9%) trisomy 13 and in 1 patient (1.9%) 20p12.1p11.23 (a deletion of 2880 kbp) were reported. The most common cardiac anomaly associated with RAA was Tetralogy of Fallot (25%). Fetal growth restriction was reported in 8.3% of the cases. 18 patients had isolated RAA. 16 out of the 18 patients had normal genetic analysis. 2 of them (11.11%) presented with a 22q11.2 microdeletion. CONCLUSION: A single-center experience on the diagnosis and management of RAA has been reported in this study. The results indicate that a prenatal cardiac evaluation in 3VV is of utmost importance in all pregnancies to detect RAA and refer these patients to the appropriate perinatology clinics for further evaluation and care.

The effect of dydrogesterone on sexual function in endometriosis.

Endometriosis is an oestrogen-dependent chronic disease, which is commonly regarded as a disease of reproductive-aged women. We aimed to evaluate the sexual function with Female Sexual Function Index (FSFI) in women with endometriosis who received dydrogesterone for 6 months. A total of 79 women with endometriomas were recruited in the study group and received 10 mg dydrogesterone tablets orally for 6 months. FSFI and visual analog scale (VAS) scores for each patient before and after treatment were recorded. When before treatment VAS scores and after treatment VAS scores (5.7 ± 1.27, 3.97 ± 1.01, respectively) were compared, a significant decrease was observed (p = .001). A significant increase in mean orgasm scores (3.23 ± 0.6 vs. 3.57 ± 0.65, p = .01) and means satisfaction scores (3.85 ± 0.48 vs. 4.10 ± 0.38, p < .001) were observed. In addition, means desire scores were also significantly higher following treatment (p = .01). In conclusion, this study showed that FSFI scores were increased after 6 months of dydrogesterone treatment in patients with endometriosis. Desire, satisfaction, orgasm and pain scores improved significantly, and sexual dysfunction decreased after treatment.Impact statementWhat is already known on this subject? Endometriosis is a chronic inflammatory disease associated with severe dysmenorrhoea, pelvic pain, dyspareunia, painful gastrointestinal symptoms and sub-fertility are among the symptoms. These symptoms can be responsible for a significant decrease in the quality of life scores of the patients. Dydrogesterone is a synthetic progesterone derivative, which suppresses oestrogen levels and ovulation. Dydrogesterone's effect on pain relief in endometriosis patients has already been shown, but it's role on the sexual dysfunction observed in women with endometriosis has not yet been questioned.What do the results of this study add? To the best of our knowledge this is the first study showing the effects of dydrogesterone on sexual function in patients with endometriosis.What are the implications of these findings for clinical practice and/or further research? Dydrogesterone can safely be used in medical treatment of endometriosis not only for pain relief but also patients with additional complaints such as sexual dysfunction can benefit from this treatment. Future studies with larger cohorts and long-term follow-ups are needed to validate our results.

Thoracic Endometriosis: A Review Comparing 480 Patients Based on Catamenial and Noncatamenial Symptoms.

OBJECTIVE: This review aimed to categorize thoracic endometriosis syndrome (TES) according to whether the presenting symptoms were catamenial and to evaluate whether such a categorization enables a better management strategy. DATA SOURCES: An electronic search was conducted using the PubMed/Medline database. METHODS OF STUDY SELECTION: The following keywords were used in combination with the Boolean operators AND OR: "thoracic endometriosis syndrome," "thoracic endometriosis," "diaphragm endometriosis," and "catamenial pneumothorax." TABULATION, INTEGRATION, AND RESULTS: The initial search yielded 445 articles. Articles in non-English languages, those whose full texts were unavailable, and those that did not present the symptomatology clearly were further excluded. After these exclusions, the review included 240 articles and 480 patients: 61 patients in the noncatamenial group and 419 patients in the catamenial group. The groups differed significantly in presenting symptoms, surgical treatment techniques, and observed localization of endometriotic loci (p <.05). CONCLUSION: This review points out the significant differences between patients with TES with catamenial and noncatamenial symptoms. Such categorization and awareness by clinicians of these differences among patients with TES can be helpful in designing a management strategy. When constructing management guidelines, these differences between patients with catamenial and noncatamenial symptoms should be taken into consideration.

Transition from pandemic to infodemic: an analysis of Turkishlanguage COVID-19 YouTube videos.

BACKGROUND: YouTube can be a powerful educational tool for the dissemination of health information. However, if uploaded health-related videos are inaccurate, it can mislead, create confusion and generate panic. AIMS: This study aimed to determine the success of the most-watched Turkish-language COVID-19 YouTube videos regarding information and guidance on the disease for the public. The secondary aim of this study was to evaluate the accuracy and quality of such video content. METHODS: The study was conducted during May 2020 and analysed 133 videos. The length of the videos, the number of likes and dislikes, comments and views, how long they have been on YouTube, Medical Information and Content Index (MICI) Score, mDISCERN scores, global quality scores, and the source and target audiences of the videos were all determined. RESULTS: The average MICI Scores of videos was 2.48±3.74 and the global quality scores was 1.27±0.64. When MICI Scores were compared between video sources, the scores of academic hospitals and government videos were significantly higher. The global quality scores of videos from news agencies and independent users was significantly lower ( < 0.001). The mDISCERN score of the videos uploaded by news agencies and categorized as useful was higher than the others (P < 0.001). Among the targeted videos, only the global quality scores of the videos made for health-care workers were found to be significantly higher. CONCLUSION: Health-care professionals should upload more videos to improve the quality of health-related video content available on YouTube. Accompanied by evidence-based information, the issues of diagnosis, ways of transmission, prevention and treatment of diseases should be emphasized.

Ovarian reserve in patients with ankylosing spondylitis.

PURPOSE: The aim of this study was to determine the autoimmune effects of ankylosing spondylitis (AS) on the fertility potential of women by evaluating ovarian reserves of AS patients. METHODS: A total of 104 patients, 52 in the AS group (study group) and 52 in the control group were included in the study. Ovarian reserve was evaluated by serum anti-Müllerian hormone (AMH) levels, antral follicle count (AFC) and baseline serum follicle-stimulating hormone (FSH) levels. RESULTS: The mean serum AMH levels were significantly lower in the study group when compared to the controls (2.203 ± 1.110 vs. 1.188 ± 0.891, p < 0.001). In addition, the mean AFC was also significantly lower in the study group. (10.67 ± 1.81 vs. 9.54 ± 2.50, p = 0.009). Mean FSH levels were calculated to be 6.72 ± 1.14 in the study group and 7.21 ± 1.22 in the control group. The difference was not statistically significant (p = 0.781). CONCLUSION: This study shows that AS like several other autoimmune conditions has an adverse effect on the female fertility potential. Therefore, an early start and long-term management of AS patients who have fertility desire is recommended. Serum AMH levels can be used in monitoring ovarian reserve and in early detection of reproductive decline of AS patients. CLINICALTRIAL NUMBER: NCT04209881.

The Effect of Neural Therapy on Long-Term Postoperative Discomforts after Bilateral Tubal Ligation.

BACKGROUND: In this study, we aimed to assess the effect of neural therapy in the prevention of post-tubal syndrome, which is the combination of dysmenorrhea, bloating, dyspareunia, heavy menstrual bleeding, chronic vaginitis, and cystitis, after elective bilateral tubal ligation with modified Pomeroy technique. MATERIAL AND METHODS: In total, 113 patients who have undergone bilateral tubal ligation with modified Pomeroy technique between January 2016 and December 2018 in our clinic have been included. Postoperatively, patients were divided into two groups. One group received neural therapy (n = 52), and the other group did not receive neural therapy (control group, n = 61). Both groups were evaluated in terms of preoperative and postoperative symptoms. One year after surgery, patients' pain levels were evaluated using visual analog scale (VAS). RESULTS: When both groups were compared in terms of symptoms, dysmenorrhea, dyspareunia, bloating, frequency of vaginitis, and cystitis per year and pain perception using VAS, the symptoms were significantly less in the neural therapy group. However, there was no difference between the groups in terms of the amount of menstrual bleeding. CONCLUSIONS: Patients who received neural therapy showed less pain symptoms (dysmenorrhea and dyspareunia), and their VAS scores were lower when compared to the control group. Thus, we concluded that neural therapy is effective in the treatment of post-tubal syndrome.