The Role of Cluster C19MC in Pre-Eclampsia Development.

Pre-eclampsia is a placenta-related complication occurring in 2-10% of all pregnancies. miRNAs are a group of non-coding RNAs regulating gene expression. There is evidence that C19MC miRNAs are involved in the development of the placenta. Deregulation of chromosome 19 microRNA cluster (C19MC) miRNAs expression leads to impaired cell differentiation, abnormal trophoblast invasion and pathological angiogenesis, which can lead to the development of pre-eclampsia. Information was obtained through a review of articles available in PubMed Medline. Articles on the role of the C19MC miRNA in the development of pre-eclampsia published in 2009-2022 were analyzed. This review article summarizes the current data on the role of the C19MC miRNA in the development of pre-eclampsia. They indicate a significant increase in the expression of most C19MC miRNAs in placental tissue and a high level of circulating fractions in serum and plasma, both in the first and/or third trimester in women with PE. Only for miR-525-5p, low levels of plasma expression were noted in the first trimester, and in the placenta in the third trimester. The search for molecular factors indicating the development of pre-eclampsia before the onset of clinical symptoms seems to be a promising diagnostic route. Identifying women at risk of developing pre-eclampsia at the pre-symptomatic stage would avoid serious complications in both mothers and fetuses. We believe that miRNAs belonging to cluster C19MC could be promising biomarkers of pre-eclampsia development.

Brief Review of Endometriosis and the Role of Trace Elements.

Endometriosis is a chronic, estrogen-dependent, inflammatory condition that is defined as the presence of endometrial glands and stroma outside the uterine cavity. Despite the progress in research into the mechanisms leading to the development of endometriosis, its cause has not yet been established. It seems to be possible that the formation of oxidative stress may be one of the main causes of the development of endometriosis. There is much research that studies the potential role of trace elements in the appearance of endometrial-like lesions. Most studies focus on assessing the content of selected trace elements in the blood, urine, or peritoneal fluid in women with endometriosis. Meanwhile, little is known about the content of these elements in endometrial-like implants, which may be helpful in developing the theory of endometriosis. Investigations that are more comprehensive are needed to confirm a hypothesis that some trace elements play a role in the pathomechanism of endometriosis.

An association of circulating Tregs and Th17 cells producing IL-21 and IL-22 with the ROMA in ovarian cancer patients.

The purpose of the present study was to assess the association of regulatory T cells (Tregs; CD4+ FOXP3+) and helper T lymphocytes (Th17) releasing interleukin (IL)-21 and IL-22, with the Risk of Ovarian Malignancy Algorithm (ROMA). Similar association was made with two additional tumour markers, human epididymis protein 4 (HE4) and carbohydrate antigen 125 (CA125) from patients serum. The presence of Tregs and Th17 was determined both in the peripheral blood and in the tissue of epithelial ovarian tumors. Mononuclear cells obtained from patient's peripheral blood (PBMCs) and from ovarian tissue were isolated by density gradient centrifugation. As a control group patients who had undergone surgery for infertility without ovarian pathology were selected. The percentage of Tregs and Th17 releasing IL-21 or IL-22 cells from both peripheral blood and tumor tissue was measured by flow cytometry. No differences in demographic parameters like body mass index, age, or gravidity were observed among the studied groups. However, an increased concentration of marker HE4 and value of ROMA was identified in individuals with ovarian cancer when compared with women with cystadenomas. Furthermore, a negative correlation between the ROMA value in the serum and Tregs from the peripheral blood of patients with cystadenoma ovarian tumors was detected. The presented work documents, for the first time, the negative association between peripheral blood Tregs and ROMA evaluation based on the tumour markers present in the serum of women with ovarian cystadenoma. Such an effect might result from the negative impact of Tregs on the inflammation process and on tumorigenesis caused by the persistent inflammation.

Long-Term Follow-Up of Sexual Dysfunction in Women Following Allogeneic Hematopoietic Stem Cell Transplantation.

Chronic graft-versus-host disease is the most common late complication following allogeneic hematopoietic stem cell transplantation. The aim of this study was to present the outcomes of two successful vaginal reconstructions. Patient 1 received chemotherapy for leukemia and underwent bone marrow transplantation (BMT). The patient was sexually inactive for 9 years. In 2012, she was diagnosed with complete vaginal obliteration and underwent vaginal reconstruction. Patient 2 underwent chemotherapy (myeloablative therapy), was sexually inactive for 3 years and was then diagnosed with complete vaginal obliteration. In January 2013, she had vaginal reconstruction with cervical dilatation. Hormonal replacement therapy was administered to both patients. The results of dedicated questionnaires revealed decent quality-of-life and normal sexual functioning and continence status after surgery. Obliteration of the vagina after BMT can be prevented, but if it occurs, vaginal reconstruction surgery should be offered to any patients suffering from obliteration. Our results show that this therapy enables patients to have normal sexual lives without compromising their continence status.

Can botox improve night-time overactive bladder symptoms in women?

AIMS: Despite the efficacy of intravesical onabotulinumtoxinA (Botox) therapy for urgency, urgency incontinence, and daytime frequency, its value in treatment of nocturia remains unclear. The aim of the prospective observational study was to assess the effect of onabotulinumtoxinA on night-time symptoms in women with overactive bladder (OAB), including nocturia, night-time urgency incontinence, and nocturnal voided volume as end-points. METHODS: Women with idiopathic OAB (with at least one episode of urgency urinary incontinence (UUI) per day, ≥8 micturitions per 24 hr, and ≥2 nocturia episodes per night) were enrolled. Patients with nocturnal polyuria were excluded. Botox (100 U) was administered in 20 intra-detrusor injections. Post-void residual volumes (PVR) were checked at 2, 4, and 12 weeks. Participants completed a 3-day bladder diary and the King's Health Questionnaire (KHQ) before and 12 weeks after treatment, and reported the efficacy of the treatment on visual analog scale (VAS) at the final follow-up visit. RESULTS: Seventy-six women completed the study. Botox injections were effective in the reduction of nocturia episodes (mean -0.98; P < 0.001) and night-time UUI episodes (-0.37; P < 0.001) compared to the baseline. The increase of mean voided volume of the night-time micturitions was 92.6 ml (P < 0.001). Patients reported a mean 58 points of improvement on the VAS. Urinary retention, which required self-catheterization, was observed in three patients. CONCLUSIONS: Intravesical Botox injection provides significant benefit for night-time symptoms in OAB patients. Our results are applicable for women without nocturnal polyuria, and should prove useful when counseling patients about the risks and benefits of Botox. Neurourol. Urodynam. 36:648-652, 2017. © 2016 Wiley Periodicals, Inc.

Hyperprolactinaemia - a problem in patients from the reproductive period to the menopause.

Hyperprolactinaemia especially affects women in reproductive age (90/100,000) but also often is diagnosed in menopause age and leads to disturbances in functioning of LH-RH neurons and, as a consequence, to a decrease of FSH and LH, which causes inhibition of oestradiol production. Prolactin is a peptide hormone, phylogenetically one of the oldest, stimulating cells of various organs, which is produced and secreted mainly by lactotrophic acidophilic cells of the anterior lobe of the pituitary. It influences the increase in the mass of the mammary glands, and stimulation and maintenance of lactation after delivery. There are a number of factors apart of pregnancy, delivery, and lactation than can influence secretion of the hormone in other physiological and pathological circumstances, like high-protein diet, stress, REM sleep, or neoplastic tumours, inflammatory diseases, chronic systematic diseases, thyroid hormonal changes, and drug intake. The purpose of this review is to summarise the current knowledge regarding the proper diagnosis and possible influence of hyperprolactinaemia on fertility and menopause symptoms and current treatment methods.

Prevalence of common comorbidities among urogynaecological patients.

OBJECTIVES: Due to prolonged life expectancy, regardless of the fact that elderly women are more likely to suffer from comorbidities, urogynaecologists worldwide should expect a growing demand for counseling and effective treatment for patients with pelvic floor defects. The aim of the study was to investigate the incidence of popular comorbidities among urogynaecological patients. MATERIAL AND METHODS: The retrospective analysis included clinical data of 4,065 consecutive female patients who under-went surgical treatment in the 2nd Department of Gynaecology at the Medical University of Lublin due to urogynaecological disorders between January 2005 and December 2014. Patients were divided into two groups (< 65 years and ≥ 65 years). The vast majority of patients affected by stress urinary incontinence were treated with mid-urethral slings. Most of patients affected by pelvic organ prolapse underwent reconstructive vaginal surgery with reinforcement using anterior and/or pos-terior meshes. Statistical analysis was performed using STATISTICA 10.0 PL (unpaired Student t-test, U Mann Whitney, χ2 test). RESULTS: In both study groups, overweight and obesity were the most common disorders affecting urogynaecological patients (72.6% overall). Furthermore, the elderly patients suffered more often from the most common comorbidities, such as hypertension (p < 0.01), coronary artery disease (p < 0.001) and diabetes mellitus (p < 0.005). CONCLUSIONS: Common comorbidities such as overweight and obesity, followed by hypertension and coronary heart diseases, are usual among urogynaecological patients. Changes in lifestyle leading to a decrease in obesity should be considered as an important line treatment when counselling urogynaecological patients.

[Umbilical cord blood as a source of nerve and stem cells]. / Krew pepowinowa jako zródlo komórek nerwowych i macierzystych.

OBJECTIVES: The aim of the study was to assess proliferative ability of the stem cells in the umbilical cord blood and their potential to differentiate in in vitro culture. MATERIAL AND METHODS: The material consisted of 14 samples of umbilical cord blood collected from the umbilical cord vein. Mononuclear cells were isolated using the method of density gradient medium. Next, CD34 cells were isolated from the interphase with the use of the VarioMACS sorter and anti-CD34 antibodies. Long-term cultures were conducted on Iscove's modified Dulbecco medium (IMDM) with addition of granulocyte-macrophage colony stimulating factor (GM-CSF) and nerve growth factor (NGF). Qualitative identification was performed using the May-Grunwald-Giemsy staining method, taking photographs with a confocal microscope, and with the immunoenzymatic method. RESULTS: In our research, CD34+ stem cells constituted 1.16% of the mononuclear cells, and after centrifugation in medium 0.37% of leukocytes in whole umbilical cord blood. Even after 60 days of culture without addition of the growth factors, CD34+ cells were present in the fraction of adherent cells. After stimulation with GM-CSF and NGF a part of the umbilical cord blood cells were transformed into nerve cells (presence of neuron-specific enolase was shown) and into cells morphologically similar to fibroblast and dendritic cells. CONCLUSIONS: After stimulation with GM-CSF and NGF cytokines, the umbilical cord blood cells proliferate in long-term medium, transform into nerve cells and into cells similar to fibroblast and dendritic cells.

[Concentration of selected angiogenic factors in serum and peritoneal fluid of women with endometriosis]. / Stezenie wybranych czynników angiogennych w plynie otrzewnowym i surowicy krwi pacjentek z endomnetrioza.

INTRODUCTION: Endometriosis is a sex hormone-dependent and successively progressing gynecological disease, characterized by the presence of endometrial tissue outside the uterus. The etiology of endometriosis is known to be multifactorial, and its growth depends on immunological, hormonal, genetic and environmental factors. Angiogenesis plays a key role in implantation and growth of endometriotic lesions, as well as in adhesion formation. Physiologically angiogenesis is responsible for neoangiogenesis and recruitment of new capillaries from the already existing capillaries. It is well-documented that altered angiogenesis provokes improper follicular maturation, infertility recurrent miscarriages, ovarian hyperstimulation syndrome, and carcinogenesis. Factors stimulating angionesis include angiogenin, vascular endothelial growth factor (VEGF) and fibroblast growth factor (FGF). OBJECTIVES: The aim of the study was to analyze angiogenic factor concentration (angiogenin, VEGF, FGF) in blood serum and peritoneal fluid in patients with diagnosed endometriosis and idiopathic infertility. MATERIAL AND METHODS: A total of 39 patients were recruited for the study including 19 patients (study group) diagnosed with endometriosis during the laparoscopic procedure and 20 patients (control group) with idiopathic infertility and no morphologic changes within the pelvis revealed during the laparoscopic procedure. All patients underwent laparoscopy during the follicular phase of the menstrual cycle. Vein blood sample was obtained before the procedure and during laparoscopy the entire peritoneal fluid was aspirated for further measurement of VEGF, FGF and angiogenin concentrations. RESULTS: Angiogenin concentration in peritoneal fluid was statistically higher in patient with idiopathic infertility in comparison to endometriosis (p<0.05). Higher angiogenin concentration was detected also in blood serum of patients with idiopathic infertility as compared to patients with endometriosis, but no statistical significance was found. VEGF and FGF concentration in blood serum and peritoneal fluid was similar in both groups (p>0.05). There were no significant differences between serum and peritoneal fluid in case of VEGF FGF and angiogenin in any of the groups. CONCLUSIONS: Angiogenic factors concentration (VEGF FGF agiogenin) in the peritoneal fluid and blood serum during the follicular phase of the menstrual cycle is not a diagnostic criterion for endometriosis.

[Clinical effectiveness of transobturator midurethral sling (T-sling) with additional 2-point tape fixation performed on an outpatient and inpatient basis]. / Ocena efektywnosci klinicznej operacji typu T-Sling z fiksacja tasmy wykonywanej w ramach procedury jednodniowej i standardowej.

INTRODUCTION: Nowadays, mid-urethral slings are considered the gold standard in surgical treatment of female stress urinary incontinence (SUI). Traditionally this technique has been followed by short inpatient hospitalization and convalescence. From the perspective of both, the patient and the physician, this technique has become increasingly popular due to very high clinical effectiveness and fast recovery ' OBJECTIVES: The aim of the study was to compare the efficacy and safety of transobturator monofilament sling (T-sling-Hernia Mesh, Italy) with additional 2-point tape fixation in the treatment of SUI in women operated on an inpatient and outpatient basis. MATERIAL AND METHODS: A total of 200 women with stress urinary incontinence were included into the study Clinical diagnosis was based on detailed medical history voiding diary gynecological examination, and positive cough test. Exclusion criteria were as follows: previous urogynecologic surgery detrusor overactivity on urodynamics and advanced urogenital prolapse (pelvic organ prolapse-quantification [POP-Q] scale grades--II, III, IV). In both groups the surgery was performed by two (TR; A W) surgeons. Using identical surgical technique, all patients had a monofilament tape inserted at the mid-urethra with 2 absorbable sutures parallel to the urethra in order to fix the tape and prevent its displacement during tape tensioning. Patients were discharged home after the first spontaneous voiding (outpatient group) or 2 days (inpatient group) postoperatively After 12 months, 192 patients (99 in outpatient and 93 in inpatient group) were available for assessment of clinical effectiveness of surgery Success was defined as lack of any leakage during cough stress test. The subjective cure rate was determined by Sandvik scale also after 12 months. Statistical analysis was performed with Statistica 7.1 pl and Mann-Whitney U and Chl tests were used. P-level of < or = 0.05 was considered as statistically significant. RESULTS: There were no differences in demographical data of patients from both groups. The only difference between the two groups concerned the body mass index (mean 26.6 +/- 3.9 vs. 28.67 +/- 3.99; p<0.001) and age (50.48 +/- 9.71 vs. 61.7 +/- 9.2; p<0.001) in the outpatient versus inpatient group, respectively There was no significant difference between the two groups in terms of the overall patients satisfaction and cure rate after the 12-month follow-up (chi2=4.039, p=0.133). CONCLUSIONS: Proper surgical technique but not length of hospitalization is the main factor determining the effectiveness of surgical treatment of SUI. Tape fixation is a simple surgical maneuver that ensures proper sling placement at mid-urethra and does not markedly increase procedure duration or cost of the treatment. Outpatient surgery for SUI using transobturator mid-urethral sling ensures the same cure and satisfaction rates as inpatient orocedure. allowing to reduce the cost of the treatment without compromising clinical effectiveness.

Does a midurethral sling inserted at the time of pelvic organ prolapse mesh surgery increase the rate of de novo OAB? A prospective longitudinal study.

OBJECTIVES: Approximately 20% of women suffer from pelvic organ prolapse (POP) and stress urinary incontinence (SUI). Furthermore, POP and overactive bladder (OAB) symptoms often coexist. Midurethral slings and mesh surgeries are both considered to be risk factors for de novo OAB symptoms. The aim of our study was to determine whether simultaneous midurethral sling insertion at the time of pelvic organ prolapse mesh surgery further increases the risk of de novo OAB. MATERIALS AND METHODS: The study group consisted of 234 women who underwent surgery in our department between August 2007 and October 2009 (114 patients underwent surgery because of coexisting POP and SUI, and 120 underwent surgery because POP alone). The patients were evaluated at follow-up visits scheduled after 6-8 weeks and after 12 months. All women underwent surgery using the Gynecare Prolift Pelvic Floor Repair System, whereas in women with additional overt or occult SUI after restoration of the pelvic anatomy monofilament midurethral slings were simultaneously inserted. The chi-squared test was used to compare the study groups. RESULTS: De novo OAB symptoms were significantly more pronounced among women in the Prolift only surgery group (23.3%) compared to the Prolift with IVS04M group (10.5%; p = 0.0093). CONCLUSIONS: Midurethral sling insertion at the time of pelvic organ prolapse surgery significantly decreases the rate of postoperative de novo OAB symptoms. The lack of anatomical success of the mesh-based reconstructive surgery is a risk factor for the development of de novo OAB symptoms.

[Gynecological aspects of allogenic stem cell transplantation--incidence, risk factors and preventive strategies--description of two clinical cases and literature review]. / Ginekologiczne problemy zwiazane z transplantacja szpiku--czestosc wystepowania, czynniki ryzyka i zalecenia lecznicze--opis dwóch przypadków i przeglad literatury.

Vaginal graft-versus-host disease (GVHD) is a rather common and underreported complication of allergenic stem cell transplantation. It occurs in approximately 25% of all women undergoing hematopoietic stem cell transplantation. In severe manifestation, GVHD might cause complete obliteration of the vagina which requires surgical intervention. In this paper we described 2 cases with complete obliteration of the vagina. We present a case report of 2 women (both 38 years old) diagnosed with complete vaginal obliteration after myeloablative chemotherapy and bone marrow transplant. Both patients were operated at the Second Department of Gynecology Lublin. During the operation we reconstructed the entire vaginal length using either sharp or blunt dissection until the cervix was visualized. Immediately after the reconstruction, we placed a phantom within the vaginal canal for 7 days in order to separate the vaginal wall and prevent the formation of new adhesions. Both patients received antibiotic prophylaxis for 5 days, as well as ointment with Cyclosporine twice a day since postoperative day 2, and 50 microg estrogen transdermal patch every 4 days. The patients were discharged from the hospital on postoperative day 7 and were recommended to use cyclosporine ointment twice a day and intra-vaginal tablets with Estrogen every 3 days. After 6 weeks a follow up revealed complete healing of the vaginal canal and both patients resumed uneventful sexual intercourses. A literature review of preventive strategies for vaginal GVHD was also presented.

[Do Th17 cells play an important role in the pathogenesis and prognosis of ovarian cancer?]. / Czy limfocyty Th17 odgrywaja istotna role w etiopatogenezie i rokowaniu raka jajnika?

Ovarian cancer is the sixth most common cancer in women worldwide and remains the leading cause of death due to gynecologic tumors. Bad prognosis is caused by advanced-stage high-grade disease. To reduce mortality and improve outcomes in this type of cancer researchers attempt to introduce new therapies based on genetic engineering or immunotherapy Th17 lymphocytes belong to the helper T cell population. These cells arise from immature CD4 + lymphocytes in the presence of IL-6 and TGF-beta. Produce IL-17A, IL-17F, IL-21, IL-22, IL-26, IL-6, TNF-alpha. Interleukin-17 and Th17 cells play an active role in inflammation and autoimmune diseases. The existence of these cells was confirmed in different types of cancer. However the exact role of IL-17 in tumor immunopathogenesis remains undefined. It has been reported that expression of interleukin-17 in tumor cells suppresses tumor progression through enhanced antitumor immunity or promotes tumor progression through an increase in inflammatory angiogenesis.

A Successful New Case of Twin Pregnancy in a Patient with Swyer Syndrome-An Up-to-Date Review on the Incidence and Outcome of Twin/Multiple Gestations in the Pure 46,XY Gonadal Dysgenesis.

BACKGROUND: The aim of the present study is to report a rare occurrence of a successful twin pregnancy in a woman with pure 46,XY gonadal dysgenesis. RESULT(S): A patient with Swyer syndrome (pure 46,XY gonadal dysgenesis) presented with a twin pregnancy after in vitro fertilization. Due to unidentified conditions, the patient developed selective intrauterine growth restriction in one of the fetuses. Twins were born at 33 weeks of pregnancy due to the risk of asphyxia. Nonetheless, the patient did not develop gonadal malignancies before the pregnancy and, despite receiving estrogen, remained amenorrheic. CONCLUSION(S): The aim of this case report is to show the course of twin pregnancy in patients with Swyer syndrome through assisted reproduction. Due to certain disorders in the development of their reproductive organs, such as the less mature uterus, such pregnancies may be associated with an increased risk. The above case report demonstrates the need to systematize methods of pregnancy management in patients with Swyer syndrome, such as: preparation for the pregnancy, assessment of the uterus, medications used, and necessary checkups. Capsule: This case report and review shows clinicians that patients with Swyer syndrome may become pregnant. Twin pregnancies may occur without any major problems through assisted reproduction.

The role of miRNA-210 in pre-eclampsia development.

MicroRNAs (miRNAs) are a class of small non-coding, single-stranded RNAs (ribonucleic acids) that play important roles in many vital processes through their impact on gene expression. One such miRNA, miR210, represents a hypoxia-induced cellular miRNA group that hold a variety of functions. This review article highlights the importance of miR-210 in the development of pre-eclampsia.KEY MESSAGEmiR-210 is a promising biomarker for monitoring pregnancy with pre-eclampsia. Overexpression of miR-210 had a negative impact on the process of cell migration and trophoblast invasion.

The State of Health and the Quality of Life in Women Suffering from Endometriosis.

Quality of life is related to good health, family relations, feeling of self-esteem, and ability to cope with difficult situations. Endometriosis is a chronic condition which affects different areas of life. The lack of satisfaction in everyday life is mainly due to constant pain. The process of adjusting to a life with illness is associated with negative emotions. The aim of the article is to review the current state of knowledge concerning the impact of social and medical factors on a population of women affected by endometriosis. Women with endometriosis have an impaired quality of life compared to the general female population. Psychological consequences of endometriosis include: depression, anxiety, powerlessness, guilt, self-directed violence, and deterioration of interpersonal relations. It may contribute to lower productivity at work and less satisfying intimate life. A multi-disciplinary, evidence-based care is needed. The disease can take away the ability to be physically active, obtain an education, work continuously, and interact with friends. Social support and cognitive-behavioral therapy are extremely important for healing.

Does intraoperative application of TachoSil reduce the number of lymphoceles after pelvic lymphadenectomy?

OBJECTIVES: The degree of lymphoceles prevention was assessed using collagen patches coated with human coagulation factors (TachoSil, Nycomed International Management GmbH, Zurich, Switzerland). The study enrolled 50 consecutive patients with endometrial and cervical cancer stages IB to II who had undergone open hysterectomy and pelvic lymphadenectomy (PL). In addition, the drainage volumes of 22 patients with hypertension were compared to that of the rest of the study population. Furthermore, occurrence of lymphocele in patients with endometrial and cervical cancer were compared after completion of adjuvant treatment. MATERIAL AND METHOD: s: Patients were simultaneously randomized in two groups: as a control (side without TachoSil applied) and study group (side with TachoSil applied). All surgical parameters were collected, and patients underwent ultrasound examination on postoperative days 1, 6, and 30, and at the end of treatment. RESULTS: The TachoSil Group showed a lower drainage volume, 30 days after surgery, while outflow of fluid occurred in 11 (22%) of all TachoSil Group cases and 22 (44%) of all control group cases. Furthermore, two patients in the control group had symptomatic lymphocele, while the same number of cases was observed in the TachoSil Group. However, the TachoSil Group demonstrated a decreased tendency to lymphocele occurrence after the end of adjuvant therapy. Here, patients with the collagen patch developed lymphocele in 12% of all cases, as opposed to 18% without TachoSil. CONCLUSIONS: TachoSil is a useful support treatment option for reducing drainage volume and preventing lymphocele development after lymphadenectomy.

Impact of Hysterectomy on Quality of Life, Urinary Incontinence, Sexual Functions and Urethral Length.

The aim of the study was to evaluate the influence of different types of hysterectomy on UI symptoms, quality of life and sexual functions using dedicated questionnaires. We investigated a correlation between the urethral length (UL), UI symptoms and the length of the cervix (left after LSH and SH) with sexual functions. The study enrolled 500 consecutive women referred for hysterectomy: 121 underwent VH, 171 underwent LSH, 96 underwent SH, 68 underwent TAH, and 44 underwent TLH. The patients filled in the UI-specific questionnaires and FSFI before and 12 months after hysterectomy. The UL was measured by introital ultrasound before and 12 months after hysterectomy. Before surgery, 137 out of 399 (34.3%) patients had UI symptoms; afterwards, 139 (34.8%) indicated the same (p > 0.05). There was no statistically significant difference in the UL in the patients before and after the procedure, and the cervix length did not differ between patients after LSH and SH. When the entire investigated population was analyzed, a significant improvement of the QoL was found on the IIQ-7. Hysterectomy performed due to benign diseases has effects on UI regardless of the surgical technique used. The UI symptoms improved only in the patients after LSH. The UL measured 12 months after hysterectomy did not change.

A new family with spastic paraplegia type 51 and novel mutations in AP4E1.

BACKGROUND: Autosomal recessive mutations in the AP-4 (adaptor protein complex 4) complex subunit ϵ - 1 (AP-4E1) gene on chromosome 15q21.2 are known to cause spastic paraplegia 51 (SPG51). The exact phenotype of SPG51 remains poorly characterized, because only a few families have been reported as carriers of the mutation. In addition, a previous study identified an autosomal dominant mutation in the AP4E1 gene as being associated with persistent stuttering. The aim of the current study was to characterize the phenotype of a paediatric patient with an identified novel AP4E1 mutation presenting with significant psychomotor retardation, intellectual disability and paraplegia. METHODS: Magnetic resonance imaging was used to identify hypoplasia of the corpus callosum. The DNA sample was tested using multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). In addition, next-generation sequencing (NGS) was performed using the patient's DNA, and Sanger sequencing was performed using that of his family members. RESULTS: The phenotype was identified to be associated with a novel pathogenic variant c.942_943 + 3delinsCC in the AP4E1 gene. The patient manifested severely delayed psychomotor development, impaired global physical development and general illness. Movement disorders were evident during the neonatal period. CONCLUSIONS: The present study identifies a previously unknown disease-inducing AP4E1 gene mutation.

An association of iNKT+/CD3+/CD161+ lymphocytes in ovarian cancer tissue with CA125 serum concentration.

The purpose of this study was to investigate the association of iNKT (human invariant natural killer T) cells with the key marker of ovarian cancer (OC) - CA125 (cancer antigen125) in serum. The study reports the assessment of iNKT cells in peripheral blood and tissue of benign and borderline ovarian tumors (BOTs) and in the advanced-stage ovarian cancer. The study groups were as follows: 25 women with benign ovarian tumors, 11 women with BOTs, and 24 women with primary advanced-stage ovarian cancers. The control group consisted of 20 patients without the ovarian pathology. The rates of iNKT lymphocytes in the peripheral blood and tissue specimens were evaluated by a flow cytometry. Significant differences in the percentage of iNKT+/CD3+ of CD3+ lymphocytes, iNKT+/CD3+/CD161+ among CD3+ and iNKT+/CD3+/CD161+ among CD3+/iNKT+ between the control group and patients with ovarian tumors in the peripheral blood and tumor tissue were identified. Significant correlations were noticed between the proportion of lymphocytes iNKT+/CD3+/CD161+ among CD3+/iNKT cells in blood and in cancer tissue of both benign and malignant tumors. In the OC group, neither the ratio of iNKT cells in the blood (P = 0.07), nor the intra-tumor NKT-cell infiltration (P = 0.5) were independent prognostic factors for the follow-up. An increased rate of iNKT cells was detected in benign ovarian tumors compared to OCs. In patients with ovarian cancer, a higher rate of iNKT cells in tumor tissue was present related to that noted in the patient's blood. In addition, a correlation was discovered between the CA125 serum marker and NKT cells from the ovarian cancer tissue. This article has for the first time demonstrated a negative relationship between serum levels and NKT lymphocyte count from ovarian tissue. The inflammatory process in ovarian cancer tissue and the potential infiltration of endothelial immune cells, may result in a reduced number of NKT cells in the tumor microenvironment and increased circulation of the CA125 marker. Presented findings underscore new aspects of the iNKT cells involvement in the ovarian cancer development.