Swim-up method is superior to density gradient centrifugation for preserving sperm DNA integrity during sperm processing.

Purpose: This study aimed to evaluate the effects of swim-up and density gradient centrifugation methods on sperm DNA fragmentation. Methods: Nineteen normozoospermic patient samples with ≥100 × 106 motile sperms were included in this study. Sperm DNA fragmentation, progressive motility, and progressive motile sperm number were measured before and after the swim-up method or density gradient centrifugation. Results: Sperm DNA fragmentation was not statistically different between swim-up-(14.4 ± 2.1%, p = 0.32) and density gradient centrifugation-processed (25.0 ± 3.0%, p = 0.20) and unprocessed semen samples (19.2 ± 1.9%). Sperm DNA fragmentation was significantly lower in swim-up-than in density gradient centrifugation-processed samples (p < 0.05). Sperm progressive motility was significantly higher (p < 0.05) in swim-up-(92.9 ± 1.0%) and density gradient centrifugation-processed (81.3 ± 2.0%) samples, with the former being higher, than in unprocessed semen samples (53.1 ± 3.7%). The recovery rate of progressive motile sperms was significantly lower in swim-up-(9.7 ± 1.4%) than in density gradient centrifugation-processed samples (17.2 ± 1.8%, p < 0.05). Conclusions: The swim-up method is superior to density gradient centrifugation, evidenced by less sperm DNA fragmentation and higher sperm progressive motility. The recovery rate of progressive motile sperms was better after density gradient centrifugation than after swim-up.

Optimal timing to retrieve oocytes for fertility preservation in patients with acute myeloid leukemia: two cases of controlled ovarian stimulation using DuoStim with a literature review.

Fertility preservation (FP) for hematological malignancies is difficult because immediate chemotherapy is needed after diagnosis. We report two cases of acute myeloid leukemia (AML) treated with controlled ovarian stimulation (COS) and oocyte cryopreservation using DuoStim after first-line chemotherapy. In Cases 1 and 2, COS and oocyte retrieval (OR) were performed using DuoStim 116 and 51 days after first-line chemotherapy, respectively, and 14 and 6 unfertilized oocytes, respectively, were cryopreserved. Another round of COS and OR was performed using the random-start method 82 days after first-line chemotherapy, and 22 unfertilized oocytes were cryopreserved. DuoStim is useful to maximize OR for patients with a short interval for FP. Many oocytes can be retrieved depending on the timing of recruitment from primary to secondary follicles, although ovarian reserve capacity declines immediately after first-line chemotherapy. Aggressive FP should be performed before allogeneic hematopoietic stem cell transplantation becomes necessary.

Trocar-site hernia following laparoscopic salpingo-oophorectomy in a middle-aged Japanese woman: an initial case report after 40 years of experience at a single center and a brief literature review.

BACKGROUND: In gynecology, the number of laparoscopic surgeries performed has increased annually because laparoscopic surgery presents a greater number of advantages from a cosmetic perspective and allows for a less invasive approach than laparotomy. Trocar site hernia (TSH) is a unique complication that causes severe small bowel obstruction and requires emergency surgery. Its use has mainly been reported with respect to gastrointestinal laparoscopy, such as for cholecystectomy. Contrastingly, there have been few reports on gynecologic laparoscopy because common laparoscopic surgeries, such as laparoscopic salpingo-oophorectomy, are considered low risk due to shorter operative times. In this study, we report on a case of a woman who developed a TSH 5 days postoperatively following a minimally invasive laparoscopic surgery that was completed in 34 min. CASE PRESENTATION: A 41-year-old woman who had undergone laparoscopic salpingo-oophorectomy 5 days previously presented with the following features of intestinal obstruction: persistent abdominal pain, vomiting, and inability to pass stool or flatus. A computed tomography scan of her abdomen demonstrated a collapsed small bowel loop that was protruding through the lateral 12-mm port. Emergency surgery confirmed the diagnosis of TSH. The herniated bowel loop was gently replaced onto the pelvic floor and the patient did not require bowel resection. After the surgical procedure, the fascial defect at the lateral port site was closed using 2-0 Vicryl sutures. On the tenth postoperative day, the patient was discharged with no symptom recurrence. CONCLUSIONS: The TSH initially presented following laparoscopic salpingo-oophorectomy; however, the patient did not have common risk factors such as obesity, older age, wound infection, diabetes, and prolonged operative time. There was a possibility that the TSH was caused by excessive manipulation during the tissue removal through the lateral 12-mm port. Thereafter, the peritoneum around the lateral 12-mm port was closed to prevent the hernia, although a consensus around the approach to closure of the port site fascia had not yet been reached. This case demonstrated that significant attention should be paid to the possibility of patients developing TSH. This will ensure the prevention of severe problems through early detection and treatment.

Endometrial congestion is the only hysteroscopic finding indicative of chronic endometritis.

Chronic endometritis (CE), an inflammatory condition characterized by plasma cell infiltration within the endometrial stroma, is prevalent among women experiencing unexplained infertility or recurrent miscarriages. CE is traditionally diagnosed by endometrial biopsy using CD138 immunohistochemistry staining. Despite some studies suggesting hysteroscopy as an alternative diagnostic tool, its reliability compared with biopsy remains controversial. This study evaluated the diagnostic accuracy of hysteroscopy for CE by examining endometrial features, such as congestion, micropolyps, edema, and polyps, and comparing these with biopsy-confirmed cases of CE. This retrospective observational study was conducted at Toho University Omori Medical Center between June 2017 and November 2019 and included patients undergoing both hysteroscopy and histopathological examination. Endometrial congestion was identified as the only hysteroscopic finding significantly associated with CE, showing a moderate diagnostic agreement with biopsy results. These findings highlight the importance of further investigating hysteroscopic features of CE and their diagnostic implications and identify endometrial congestion as a potential predictive marker for CE.

Effect of blastocyst shrinkage on assisted reproductive outcomes: a retrospective cohort study describing a new morphological evaluation of blastocyst pre-vitrification and post-warming.

BACKGROUND: The failure of frozen-thawed blastocysts to re-expand adequately within a few hours after warming has been reported to have a negative impact on assisted reproductive technology (ART) outcomes. However, the extent to which this failure truly affects ART outcomes has not yet been presented in a manner that is easily understandable to medical practitioners and patients. This study aimed to assess the effects of blastocyst shrinkage on ART outcomes and determine a more effective morphological evaluation approach for use in clinical settings. METHODS: This retrospective observational cohort study of frozen-thawed blastocyst transfer cycles was conducted from April 2017 to March 2022. Overall, 1,331 cycles were eligible for inclusion, of which 999 were good-quality blastocysts (GQB) and 332 were non-good-quality blastocysts (non-GQB). All frozen-thawed blastocyst transfer cycles performed during the specified study period were included in the study. Exclusion criteria were established to mitigate potential sources of bias as these cycles could impact implantations. We calculated rates and age-adjusted odds ratios of implantation, clinical pregnancy, ongoing pregnancy, and live birth of the re-expansion group, which showed sufficient expansion, and shrinkage group, which showed insufficient expansion. We also calculated the implantation, clinical pregnancy, ongoing pregnancy, and live birth rates of the re-expansion and shrinkage groups for each morphological scoring system parameter. RESULTS: A reduced ART outcome was observed with use of blastocysts with shrinkage after vitrification/warming. The age-adjusted odds ratios for implantation, clinical pregnancy, ongoing pregnancy, and live birth were lower in the shrinkage group than in the re-expansion group. CONCLUSIONS: This study examined the adverse effect of blastocyst shrinkage after warming and recovery culturing on reproductive outcomes in a clinically useful manner by retrospectively examining a substantial number of frozen-thawed embryo transfer cycles. The study findings can possibly reduce concerns regarding over- or under-estimation of blastocyst implantation by allowing providers and patients to refer to the data.

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.

OBJECTIVE: Neurodevelopmental disorders (NDDs) often associate with epilepsy or craniofacial malformations. Recent large-scale DNA analyses identified hundreds of candidate genes for NDDs, but a large portion of the cases still remain unexplained. We aimed to identify novel candidate genes for NDDs. METHODS: We performed exome sequencing of 95 patients with NDDs including 51 with trigonocephaly and subsequent targeted sequencing of additional 463 NDD patients, functional analyses of variant in vitro, and evaluations of autism spectrum disorder (ASD)-like phenotypes and seizure-related phenotypes in vivo. RESULTS: We identified de novo truncation variants in nine novel genes; CYP1A1, C14orf119, FLI1, CYB5R4, SEL1L2, RAB11FIP2, ZMYND8, ZNF143, and MSX2. MSX2 variants have been described in patients with cranial malformations, and our present patient with the MSX2 de novo truncation variant showed cranial meningocele and partial epilepsy. MSX2 protein is known to be ubiquitinated by an E3 ubiquitin ligase PJA1, and interestingly we found a PJA1 hemizygous p.Arg376Cys variant recurrently in seven Japanese NDD patients; five with trigonocephaly and one with partial epilepsy, and the variant was absent in 886 Japanese control individuals. Pja1 knock-in mice carrying p.Arg365Cys, which is equivalent to p.Arg376Cys in human, showed a significant decrease in PJA1 protein amount, suggesting a loss-of-function effect of the variant. Pja1 knockout mice displayed moderate deficits in isolation-induced ultrasonic vocalizations and increased seizure susceptibility to pentylenetetrazole. INTERPRETATION: These findings propose novel candidate genes including PJA1 and MSX2 for NDDs associated with craniofacial abnormalities and/or epilepsy.

Heterotopic pregnancy with suspicion of superfetation after the intrauterine insemination cycle with ovulation induction using clomiphene citrate: A case report.

At 22 days after intrauterine insemination with ovulation induction using clomiphene citrate at a previous hospital, a 30-year-old woman was admitted to our hospital owing to right lower quadrant abdominal pain. We diagnosed threatened abortion because of a gestational sac in the uterus on transvaginal ultrasonography. The next day, she complained of increased abdominal pain. Transvaginal ultrasonography revealed a gestational sac-like structure in the echo free space. She was diagnosed with heterotopic pregnancy due to a ruptured right tubal pregnancy, underwent laparoscopic right salpingectomy. Rupture of a gestational age of 5 weeks is extremely rare. If this was a case of a heterotopic pregnancy due to superfetation, it could be explained as this clinical course. When a pregnant woman develops abdominal pain, heterotopic pregnancies should not be excluded from the differential diagnosis, and the possibility of superfetation should be taken into consideration.

Semiology of hyperkinetic seizures of frontal versus temporal lobe origin.

Hyperkinetic seizures are usually associated with frontal lobe epilepsy. However, some patients have hyperkinetic seizures of temporal lobe origin. The semiological differences in hyperkinetic seizures between frontal and temporal lobe epilepsy have not been well studied. Here, we retrospectively assessed ictal semiology in order to distinguish between hyperkinetic seizures of frontal lobe origin and those of temporal lobe origin. We retrospectively reviewed data on patients who had undergone surgery for hyperkinetic seizures of temporal or frontal lobe origin and achieved favourable seizure outcomes (Engel Class I) with a minimum postoperative follow-up of 24 months. We reviewed seizure histories, imaging reports, video-EEG monitoring data, operative records, and pathological findings. We analysed and compared the hyperkinetic semiology of video-recorded seizures of temporal lobe origin and those of frontal lobe origin. Forty hyperkinetic seizures in eight patients (seven adult patients and one 12-year-old patient) with temporal lobe epilepsy and 45 hyperkinetic seizures in nine patients (eight adult patients and one 16-year-old patient) with frontal lobe epilepsy were analysed. Emotional facial expressions (such as fear, laughing, or anger), bilateral forceful elbow flexion, bilateral forceful grasping, facial flushing, and bilateral facial contraction were observed significantly more frequently in seizures of frontal lobe origin. Oroalimentary automatisms, seizures during wakefulness, salivation, and bilateral drop of the corners of the mouth were observed significantly more frequently in seizures of temporal lobe origin. Observation of a number of signs during hyperkinetic manifestations may help to predict whether a seizure originates from the frontal lobe or the temporal lobe.

Immunological studies of cerebrospinal fluid from patients with CNS symptoms after human papillomavirus vaccination.

In 32 patients with prolonged central nervous system symptoms after human papillomavirus (HPV) vaccination, we measured conventional and immunological markers in cerebrospinal fluid (CSF) and compared with the levels in disease controls. Our studies revealed significantly decreased chloride and neuron-specific enolase (NSE) levels in CSF of patients with CNS symptoms after HPV vaccination compared to disease controls. IL-4, IL-13, and CD4(+) T cells increased significantly in patients, and IL-17 increased significantly from 12 to 24months after symptom onset. Chemokines (IL-8 and MCP-1) were also elevated, but CD8(+) T cells, PDGF-bb and IL-12 were reduced. Antibodies to GluN2B-NT2, GluN2B-CT and GluN1-NT increased significantly. These results suggest biological, mainly immunological, changes in the CSF of patients after HPV vaccination.