Gene expression signatures associated with chronic endometritis revealed by RNA sequencing.

Introduction: Chronic endometritis (CE) is a persistent inflammatory condition of the endometrium characterized by the infiltration of plasma cells in the endometrial stroma. CD138 immunohistochemistry is considered to improve the CE diagnosis rate. Methods: Using the number of CD138-positive cells equal or greater than five as a diagnostic criterion for CE, we identified 24 CE and 33 non-CE cases among women with infertility. We conducted RNA-sequencing analysis for these 57 cases in total as an attempt to elucidate the molecular pathogenesis of CE and to search for new biomarkers for CE. Results and Discussion: By comparing CE and non-CE groups, we identified 20 genes upregulated in the endometria of CE patients, including 12 immunoglobulin-related genes and eight non-immunoglobulin genes as differentially expressed genes. The eight genes were MUC5AC, LTF, CAPN9, MESP1, ACSM1, TVP23A, ALOX15, and MZB1. By analyzing samples in the proliferative and secretory phases of the menstrual cycle separately, we also identified four additional non-immunoglobulin genes upregulated in CE endometria: CCDC13 by comparing the samples in the proliferative phase, and OVGP1, MTUS2, and CLIC6 by comparing the samples in the secretory phase. Although the genes upregulated in CE may serve as novel diagnostic markers of CE, many of them were upregulated only in a limited number of CE cases showing an extremely high number of CD138-positive cells near or over one hundred. Exceptionally, TVP23A was upregulated in the majority of CE cases regardless of the number of CD138-positive cells. The upregulation of TVP23A in the endometria of CE cases may reflect the pathophysiology of a cell-type or cell-types intrinsic to the endometrium rather than the accumulation of plasma cells. Our data, consisting of clinical and transcriptomic information for CE and non-CE cases, helped us identify gene expression signatures associated with CE.

A novel FLNA variant in a fetus with skeletal dysplasia.

Otopalatodigital spectrum disorder (OPDSD) is characterized by variable phenotypes, including skeletal dysplasia, and is caused by pathogenic variants in filamin A-encoding FLNA. FLNA variants associated with lethal OPDSD primarily alter the CH2 subdomain of the ABD of FLNA. Herein, we report a novel FLNA mutation in a fetus with severe skeletal dysplasia in a pregnant multigravida female with a history of repeated miscarriages and terminations.

Pyomyoma mimicking tubo-ovarian abscess: Two case reports.

Pyomyoma is an extremely rare complication, defined as an infection of a uterine leiomyoma. We describe two cases of pyomyoma that were initially considered to be tubo-ovarian abscesses but were later diagnosed as pyomyomas and managed with laparoscopic surgery. Case 1 was a 26-year-old nulliparous woman who was previously diagnosed with bilateral endometriomas and presented to the hospital with lower abdominal pain. Magnetic resonance imaging revealed bilateral endometrial cysts and a 4-cm mass consistent with a tubo-ovarian abscess. The patient experienced continuous pain, and the cyst in the left adnexa enlarged; thus, laparoscopic surgery was performed. The cystic tumor in her uterus contained purulent fluid. Therefore, an abscess in the degenerative subserous myoma was diagnosed. Case 2 was a 47-year-old nulliparous woman who had undergone total mastectomy and postoperative radiotherapy for breast cancer. She was undergoing hormone therapy when she presented to the hospital with lower abdominal pain, fever, and increased inflammatory markers. Computed tomography revealed a 7-cm tumor with rim enhancement in her left adnexa; therefore, a tubo-ovarian abscess was suspected. After admission, drainage was performed under transvaginal ultrasound guidance, and antibiotics were administered. However, these treatments did not relieve her abdominal pain. Emergency laparoscopic surgery was performed, and intraoperative findings demonstrated an abscess in the degenerative subserous myoma of the uterus with normal adnexa. Laparoscopic hysterectomy and bilateral salpingectomy were performed. Laparoscopic surgery was effective for both patients. Delayed diagnosis of pyomyoma can result in serious complications. Timely surgery with concomitant antibiotic treatment may facilitate good outcomes.

Early outcomes of a municipally funded oocyte cryopreservation programme in Japan.

One factor explaining the declining birth rate in Japan is the social advancement of women. Women are delaying marriage and childbirth, with many then facing so-called 'social infertility'. Advanced infertility treatment options, such as in vitro fertilization, are available, but the costs are high. Further, the success rates for 'older' women are only around 10%. We report the preliminary results of an oocyte cryopreservation programme promoted and subsidized by our city government. Citywide seminars were conducted to generate awareness of issues surrounding fertility. Among the total 81 attendees were women considering oocyte retrieval and the current practice of oocyte retrieval and cryopreservation and its associated risks were explained. Fifty-seven attendees, women under 34 years of age, were considered potential candidates for the procedure. These women wished to delay pregnancy for specific reasons, such as occupational demands. Twenty-six of these women expressed a definite desire for oocyte cryopreservation, and 19 have thus far completed the oocyte retrieval and cryopreservation procedure. Frozen MII oocytes have ranged in number from 3 to 22 per patient (mean ± SD, 8.3 ± 5.2). Outcomes thus far indicate that women whose fertility is at risk can be assisted by this fertility preservation method and that it will help address the problem of the declining birth rate in Japan.