Search

Inositol 1,4,5-trisphosphate (IP3) receptor type 1 ( ITPR1 ), 2 ( ITPR2 ), and 3 ( ITPR3 ) encode the IP3 receptor (IP3R), a key player in intracellular calcium release. In four unrelated patients, we report that an identical ITPR3 de novo variant-NM_002224.3:c.7570C>T, p.Arg2524Cys-causes, through a dominant-negative effect, a complex multisystemic disorder with immunodeficiency. This leads to defective calcium homeostasis, mitochondrial malfunction, CD4 + lymphopenia, a quasi-absence of naïve CD4 + and CD8 + cells, an increase in memory cells, and a distinct TCR repertoire. The calcium defect was recapitulated in Jurkat knock-in. Site-directed mutagenesis displayed the exquisite sensitivity of Arg 2524 to any amino acid change. Despite the fact that all patients had severe immunodeficiency, they also displayed variable multisystemic involvements, including ectodermal dysplasia, Charcot-Marie-Tooth disease, short stature, and bone marrow failure. In conclusion, unlike previously reported ITPR1-3 deficiencies leading to narrow, mainly neurological phenotypes, a recurrent dominant ITPR3 variant leads to a multisystemic disease, defining a unique role for IP3R3 in the tetrameric IP3R complex.

Competing Interests: Competing interests: None declared.

Objective: To examine the current state for ovarian cancer surgery in France from 2009 to 2016 and to examine the impact of the volume of activity on morbidity and mortality by institution., Material and Method: National retrospective study analyzing surgical sessions for ovarian cancer from the program of medicalization of information systems (PMSI), from January 2009 to December 2016. Institutions were divided according to the number of annual curative procedures into 3 groups: A<10; B: 10-19; C≥20. A propensity score (PS) and the Kaplan-Meier method were employed for statistical analyses., Results: In total, 27,105 patients were included. The 1-month mortality rate in group A, B and C was 1.6; 1 and 0.7 %, respectively (P<0.001). Compared to group C, the Relative Risk (RR) of death within the first month was 2.22 for group A and 1.32 for group B (P<0.01). After MS, the 3- and 5-year survival in group A+B and group C were 71.4 and 60.3% (P<0.05) and 56.6, and 60.3% (P<0.05), respectively. The 1-year recurrence rate was significantly lower in group C (P<0.0001)., Conclusion: An annual volume of activity>20 advanced stage ovarian cancers is associated with a decrease in morbidity, mortality, recurrence rate and improved survival., (Copyright © 2023. Published by Elsevier Masson SAS.)

Introduction and Hypothesis: The objective was to describe the different laparoscopic and vaginal steps of sub-urethral infected mesh explantation as well as an unexpected and unusual complication: a sub-mucosal calcification on the sub-urethral segment of the sling that was not infiltrating the urethra., Methods: This was carried out at our University Teaching Hospital of Strasbourg., Results: We show the complete removal of an infected retropubic sling in a patient who had already undergone three previous surgeries without resolution of symptoms. This is a difficult case requiring a laparoscopic approach of the space of Retzius, which has been less familiar to surgeons since the advent of the midurethral sling. We show how to approach this space in an inflammatory environment by specifying its anatomical limits. Moreover, a great deal can be learned from the occurrence of an infectious complication after the surgery and the presence of a large calcification on the prosthesis. In this context, we advise a systematic antibiotic treatment to avoid this kind of complication., Conclusions: Knowing the guidelines and the different surgical steps will help urogynecological surgeons to perform similar procedures in patients requiring removal of retropubic slings for complications such as infection and pain, where conservative management has not been successful. These cases must be discussed in a multidisciplinary meeting, as recommended by the French National Authority for Health, and managed in an expert establishment., (© 2023. The Author(s).)

Objective: According to French guidelines, hyperthermic intraperitoneal chemotherapy (HIPEC) can be performed for Federation of Gynecology and Obstetrics stage III primary epithelial ovarian, tubal, and peritoneal cancers that are initially unresectable after 3 or 4 cycles of intravenous chemotherapy. The main objective of this preliminary study was to analyze the components necessary for the establishment of HIPEC in an expert gynecological oncological surgery center. The secondary objective was to compare HIPEC using conventional laparotomy and laparoscopic approaches., Methods: We conducted a single-center retrospective study of patients who received HIPEC. All patients who met the criteria of the French HIPEC guidelines were included from 2019 to 2021., Results: Prior to HIPEC, there were a mean of 3.7 courses of neoadjuvant chemotherapy with carboplatin and paclitaxel. Of the 16 patients who received HIPEC, 9 (56.2%) underwent HIPEC laparoscopically, while 7 (43.8%) underwent laparotomy. There were no differences between the rates of intra- and postoperative complications between the two groups. (p > 0.05). The duration of hospitalization was significantly shorter in patients who were operated laparoscopically than in those treated using laparotomy (55.6% <10 days vs. 0 by laparotomy, p = 0.01). There was also a tendency, although not significant, for a more rapid resumption of adjuvant chemotherapy in the laparoscopy group, with 57.1% resuming chemotherapy in <6 weeks compared to 42.9% in the laparotomy group (p = 0.52)., Conclusions: This study demonstrates the feasibility of HIPEC in a center with expertise in gynecological surgery when there is a suitable technical platform and close collaboration between the different teams involved. We also showed the first cases of HIPEC using laparoscopy, which seems to be a promising approach., (Copyright © 2022. Published by Elsevier Masson SAS.)