Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole.

AIM: This study aimed to clarify the genetic and epigenetic features of recurrent hydatidiform mole (RHM) in Japanese patients. METHODS: Four Japanese isolated RHM cases were analyzed using whole-exome sequencing. Villi from RHMs were collected by laser microdissection for genotyping and DNA methylation assay of differentially methylated regions (DMRs). Single nucleotide polymorphisms of PEG3 and H19 DMRs were used to confirm the parental origin of the variants. RESULTS: A novel homozygous nonsense mutation in NLRP7 (c.584G>A; p.W195X) was identified in 1 patient. Genotyping of one of her molar tissue revealed that it was biparental but not androgenetic in origin. Despite the fact that the RHM is biparental, maternally methylated DMRs of PEG3, SNRPN and PEG10 showed complete loss of DNA methylation. A paternally methylated DMR of H19 retained normal methylation. CONCLUSIONS: This is the first Japanese case of RHM with a novel homozygous nonsense NLRP7 mutation and a specific loss of maternal DNA methylation of DMRs. Notably, the mutation was identified in an isolated case of an ethnic background that has not previously been studied in this context. Our data underscore the involvement of NLRP7 in RHM pathophysiology and confirm that DNA methylation of specific regions is critical.

Feasibility of laparoscopically assisted extracorporeal cystectomy via single suprapubic incision using an adjustable-view laparoscope to treat large benign ovarian cysts: comparison with conventional procedure.

OBJECTIVE: To demonstrate the feasibility of minimally invasive surgery using a novel optical device to treat large benign ovarian cysts and to compare the safety of the procedure with that of conventional laparoscopically assisted multiport extracorporeal cystectomy. STUDY DESIGN: Twenty-one patients with large benign ovarian cysts underwent laparoscopically assisted extracorporeal ovarian cystectomy via a single suprapubic incision using a novel 10-mm rigid laparoscope with an adjustable direction of view and a multiport device, between October 2010 and July 2012. The surgical outcomes were retrospectively compared between these patients (Group A) and 32 patients who underwent the conventional 3-port laparoscopically assisted extracorporeal procedure between January 2009 and September 2010 (Group B). Data were statistically analyzed using the Mann-Whitney U-test or Fisher's exact test. RESULTS: None of Group A required conversion to conventional multiport laparoscopy. The total duration of surgery, elapsed time between skin incision and the start of pneumoperitoneum, and time required for intra- and extra-corporeal manipulations did not significantly differ between the groups. The time required for skin closure, however, was significantly decreased in Group A compared with Group B (13.0 ± 3.5 vs. 20.2 ± 4.8 min, P=0.005). The volume of blood loss and postoperative blood findings were similar to those associated with the conventional procedure. Postoperative visual analog pain scales at 3h were significantly lower in Group A than in Group B (3.7 ± 2.6 vs. 4.8 ± 2.0, P=0.04). Postoperative complications did not arise after either procedure. CONCLUSION: Laparoscopically assisted extracorporeal cystectomy via a single suprapubic incision is a feasible and safe alternative to conventional multiport cystectomy for treating large benign ovarian cysts.

Retrospective analysis of the efficacy of perioperative use of the cell salvage and autologous blood recovery system during laparoscopic myomectomy.

PURPOSE: To evaluate the benefit of the intraoperative use of a cell salvage and autologous blood recovery system during laparoscopic myomectomy (LM). METHODS: We retrospectively reviewed the medical records of 538 patients who underwent LM between January 2008 and December 2009 at our hospital. Patients undergoing LM were divided into two groups depending on whether the cell salvage and autologous blood recovery system was used; the use of the system was at the discretion of the surgeon. The system for intraoperative hemorrhage was employed based on the surgeon's decision. RESULTS: Of the 583 patients, 23 patients (4.3%) underwent LM using the system. No patient required an allogeneic blood transfusion during or after the surgery. The median surgical time (183 vs. 100 m), total blood loss (520 vs. 100 mL), total weight of enucleated myomas (390 vs. 175 g), and postoperative calculated δ-Hemoglobin (δ-Hb) (2 vs. 1.6 g/dL) were significantly increased in the 23 patients in whom the system was used. The median autologous blood volume recovered by intraoperative use of the system and transferred to the 23 patients was 250 mL (range 125-800 mL). For patients in whom the system was not used, the total blood loss significantly correlated to δ-Hb (r = 0.29; P < 0.01). However, there was no such correlation in patients in whom the system was not used (r = 0.04; P = 0.86). CONCLUSIONS: The adoption of a cell salvage and autologous blood recovery system during LM was useful for patients with severe hemorrhage.

Association between uterine repair at laparoscopic myomectomy and postoperative adhesions.

OBJECTIVE: To determine whether uterine repair at laparoscopic myomectomy influences postoperative adhesions. DESIGN: Retrospective study. SETTING: University-affiliated hospital. POPULATION: A total of 108 patients who underwent second-look laparoscopy after laparoscopic myomectomy without concomitant pelvic surgery between January 2006 and May 2010. METHODS: Absorbable cellulose adhesion barriers were used for uterine repair at initial surgery in all women. The presence of adhesions was evaluated by second-look laparoscopy. MAIN OUTCOME MEASURES: The influence of background factors (diameter of largest myoma, number of myomas, incision sites and number of suture layers) and the uterine status immediately after uterine repair at laparoscopic myomectomy (number, length and location of wounds, as well as wound appearance classified as virtually normal, swollen or protruding) on adhesion formation were analysed in 108 women with 296 uterine wounds. Data were analysed by logistic regression analysis. RESULTS: Forty-one (38.0%) women had adhesions to their uterus at follow up. We identified 48 (16.2%) adhesions among 296 wounds in all women. A protruding wound was significantly associated with postoperative wound adhesion (odds ratio, 2.53; p=0.02). The number of enucleated subserosal myomas (odds ratio, 3.29; p<0.001) and the diameter of the largest myoma (odds ratio, 1.05; p<0.001) were significantly associated with wound protrusion, which was a critical factor influencing adhesion. CONCLUSIONS: Postoperative wound adhesion formation seems to depend on uterine status immediately after laparoscopic myomectomy.

Atypical Miller Fisher syndrome associated with glutamate receptor antibodies.

The present study reports a young woman with acute ataxia, areflexia and ophthalmoplegia, accompanied by psychosis and involuntary movements (IVMs) from disease onset. Anti-GQ1b and anti-GT1a antibodies were detected allowing for a diagnosis of Miller Fisher syndrome (MFS). However, psychosis and IVMs are atypical MFS symptoms and often mimic symptoms of anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis. Interestingly, the autoantibodies against full-length glutamate receptor-ε2 (GluRε2) and glutamate NR2B- and NR2A-containing heteromers (NR1/NR2) of NMDAR were also detected in the patient serum and cerebrospinal fluid. It was concluded that psychosis and IVMs in this patient were associated with autoantibodies against various GluRs.