Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure.

Ovarian failure (OF) is a common cause of infertility usually diagnosed as idiopathic, with genetic causes accounting for 10-25% of cases. Whole-exome sequencing (WES) may enable identifying contributing genes and variant profiles to stratify the population into subtypes of OF. This study sought to identify a blood-based gene variant profile using accumulation of rare variants to promote precision medicine in fertility preservation programs. A case-control (n = 118, n = 32, respectively) WES study was performed in which only non-synonymous rare variants <5% minor allele frequency (MAF; in the IGSR) and coverage ≥ 100× were considered. A profile of 66 variants of uncertain significance was used for training an unsupervised machine learning model to separate cases from controls (97.2% sensitivity, 99.2% specificity) and stratify the population into two subtypes of OF (A and B) (93.31% sensitivity, 96.67% specificity). Model testing within the IGSR female population predicted 0.5% of women as subtype A and 2.4% as subtype B. This is the first study linking OF to the accumulation of rare variants and generates a new potential taxonomy supporting application of this approach for precision medicine in fertility preservation.

Different injection sites of radionuclide for sentinel lymph node detection in breast cancer: single institution experience.

OBJECTIVE: The sentinel node is defined as the first lymph node in a regional basin that receives lymph flow from the primary tumor. There is still a controversy over deep versus superficial injection administration in the breast. STUDY DESIGN: From June 2006 to June 2008, 133 patients with biopsy proven breast carcinoma and clinically negative axilla have been treated with conservative surgery and a study of their axillary sentinel lymph nodes (SLN) has been conducted. RESULTS: The median number of SLN detected was significantly higher in the periareolarly injected (PA) group (2.43) than in the intratumorally injected (IT) group (1.92) (p=0.008). The incidence of positive SLN in the PA group was not significantly different from the incidence observed in the IT group (p=0.22). CONCLUSION: Both techniques seem to reliably identify the true SLN in the axilla. Although intradermal as compared with intratumoral injection has numerous advantages, including ease of injection, shorter time between injection and sentinel node identification, and increased radiotracer nodal uptake, nevertheless, intradermal injection allows almost exclusive identification of axillary nodes, and only on rare occasions, of non-axillary nodes. We therefore think that intratumoral injection must be preferred to intradermal when possible to identify the node that is the first draining step of the tumoral tissue.

Thrombospondin-1 serum levels do not correlate with pelvic pain in patients with ovarian endometriosis.

OBJECTIVE: Thrombospondin-1 serum levels is correlate with pelvic pain in patients with ovarian endometriosis. PATIENTS: Thrombospondin-1 serum levels were prospectively analysed in 51 patients (group A asymptomatic patients or patients presenting mild dysmenorrhea and women comprised group B severe dysmenorrhea and/or chronic pelvic pain and/or dyspareunia) who underwent surgery for cystic ovarian endometriosis to asses whether a correlation exists among thrombospondin-1 serum levels and pelvic pain. RESULTS: From 56 patients, five cases were ultimately excluded, because the histological diagnosis was other than cystic ovarian endometriosis (2 teratomas and 3 haemorrhagic cysts). The mean thrombospondin-1 serum levels in group A was 256,69 pg/ml_+37,07 and in group B was 291,41 pg/ml + 35,59. CONCLUSION: Pain symptoms in ovarian endometriosis is not correlated with thrombospondin-1 serum levels.

The value of minilaparotomy for total hysterectomy for benign uterine disease: a comparative study with conventional Pfannenstiel and laparoscopic approaches.

BACKGROUND: The aim of this paper is to review and compare the results obtained using the Pfannenstiel, laparoscopy and minilaparotomy approaches for total hysterectomy procedure in relation to benign uterine diseases. METHODS: A retrospective data analysis was performed on 165 patients who underwent hysterectomy for benign uterine diseases at our centre during the period 2004 to 2006. FINDINGS: The minilaparotomy procedure was the fastest procedure with a mean time of 73.4 minutes (range: 67.85 to 78.94 minutes, p < 0.001). Hospital stay was shortest for laparosopic procedure (mean time: 3.24 days, range: 2.86 to 3.61 days) (p < 0.001). The rate of intraoperative and postoperative complications were not statistical different among three procedures. CONCLUSION: The minilaparotomy procedure offers a minimally invasive option for total hysterectomy due to benign uterine disease.

Two-dimensional power Doppler-three-dimensional ultrasound imaging of a cesarean section dehiscence with utero-peritoneal fistula: a case report.

INTRODUCTION: An imaging diagnosis after an iterative cesarean delivery is reviewed demonstrating a fine ultrasound-pathologic correlation. CASE PRESENTATION: A 33-year-old woman (G3, P3) presented referring intense dysmenorrhea and intermenstrual spotting since her third cesarean delivery, 1 year before. A cesarean section dehiscence with utero-peritoneal fistula was diagnosed by transvaginal ultrasound. CONCLUSION: We can conclude that transvaginal two-dimensional power Doppler and three-dimensional ultrasound are highly accurate in detecting cesarean section dehiscence and uterine fistula.

Endometriosis in a postmenopausal woman without previous hormonal therapy: a case report.

INTRODUCTION: The prevalence of pelvic endometriosis is high, affecting approximately 6% to 10% of women of reproductive age. Although endometriosis has been associated with the occurrence of menstrual cycles, it can affect between 2% to 5% of postmenopausal women. CASE PRESENTATION: We present a case of ovarian endometriosis in a 62-year-old Spanish Caucasian woman with no previous use of hormonal therapy and no history of endometriosis or infertility. CONCLUSION: ALTHOUGH THE REPORTED SITUATION IS RARE, IT IS IMPORTANT TO BE AWARE OF ENDOMETRIOSIS AFTER THE MENOPAUSE: post-menopausal endometriosis confers a risk of recurrence and malignant transformation.

Three-dimensional power Doppler assessment of uterine vascularization in women with primary dysmenorrhea.

OBJECTIVE: The aim of this study was to assess myometrial vascularization with 3-dimensional (3D) power Doppler angiography (PDA) in women with different grades of primary dysmenorrhea at the moment of maximum menstrual pain in an effort to improve the pathophysiologic knowledge of one of the most common gynecologic conditions. METHODS: This was a cross-sectional study involving 70 voluntary women that studied or worked at the Clinica Universitaria de Navarra between January 2006 and January 2008. All women underwent transvaginal sonographic 3D PDA on the day of maximum pain after the onset of menstruation or during the first 24 to 48 hours of the new cycle if no pain was present. Three groups were defined according to a visual analog scale: no pain to mild dysmenorrhea, moderate dysmenorrhea, and severe dysmenorrhea. Vascularity assessment was done on the basis of 3D vascularity indices: the vascularization index (VI), flow index (FI), and vascularization-flow index (VFI). RESULTS: The mean VI and VFI for the inner 5 mm of the myometrium and the total myometrium were significantly higher in the women with severe dysmenorrhea than in those with no pain to mild dysmenorrhea (P < .05). The VI, FI, and VFI in the women with moderate dysmenorrhea did not differ significantly from those in the women with severe dysmenorrhea. CONCLUSIONS: This study evaluated the use of 3D PDA for assessing uterine and specifically myometrial vascularization. Our data indicate that women with severe dysmenorrhea have increased myometrial vascularization during the early menstrual phase compared with women without pain.

Postpartum ovarian vein thrombosis after cesarean delivery: a case report.

INTRODUCTION: Postpartum ovarian vein thrombosis is an uncommon complication; incidence varies between 0.002% and 0.05%. It most often occurs during the 2-15 days following delivery. CASE PRESENTATION: A 22-year-old pregnant woman at term presented to hospital with uterine contractions, abdominal pain, nausea and vomiting. After delivery an ovarian vein thrombosis was diagnosed. CONCLUSION: Low-molecular weight heparin with broad-spectrum antibiotics are the accepted therapy in non-complicated cases of postpartum ovarian vein thrombosis.

Intraobserver and interobserver reproducibility of 3-dimensional power Doppler vascular indices in assessment of solid and cystic-solid adnexal masses.

OBJECTIVE: The purpose of this study was to assess the intraobserver and interobserver reproducibility of 3-dimensional (3D) power Doppler angiography-derived vascular indices in evaluation of vascularized solid and cystic-solid adnexal masses. METHODS: Stored 3D power Doppler angiographic volume data from 12 consecutive women with a diagnosis of a complex adnexal mass (6 cystic-solid and 6 solid) evaluated and treated at our institution were retrieved from our database for analysis. Two examiners performed the calculations blinded to each other. Calculations were performed offline in a computer using Virtual Organ Computer-Aided Analysis software (plane A, 9 degrees rotation step) to assess volume and vascularization (vascularization index, flow index, and vascularization-flow index) from solid areas within the tumor. In all cases, a definitive histologic diagnosis was obtained. Intraobserver and interobserver reproducibility was assessed by calculating the intraclass and interclass correlation coefficients for each index. RESULTS: All tumors proved to be malignant after surgical removal. Intraobserver reproducibility for both examiners and interobserver reproducibility were high for all indices (interclass correlation coefficient > 0.95). CONCLUSIONS: Three-dimensional power Doppler angiography is a reproducible technique for offline assessment of stored 3D volume data of vascularized adnexal masses.