Hôpital l'Archet

Postoperative pain management typically relies on numerical (NRS) or analogue rating scales. However, exclusive focus on nociception may overlook broader aspects of patient experience, especially under regional anaesthesia (RA). This post hoc analysis of the COMFORT trial (NCT05234216) examined whether replacing the NRS with a comfort-focused scale affects patient-reported experience, opioid use, and related outcomes. We analysed data from a cluster-randomised trial in 29 French centres. Adults undergoing elective non-cardiac surgery managed in the post-anaesthesia care unit (PACU) were included. The intervention (comfort scale) and comparator (pain NRS) were applied in the PACU. Patient-reported experience was measured with the EVAN-G/LR scales, self-completed on the ward/day-care unit ≥4 h postoperatively. Participants were divided into RA and general anaesthesia subgroups. Of 885 randomised patients, 786 had evaluable EVAN data. After regional anaesthesia (RA; n = 305), comfort‑focused assessment was associated with higher EVAN Pain (median 88 [IQR 75-94] vs. 75 [69-88]; p = 0.034), Waiting (100 [75-100] vs. 75 [50-100]; p = 0.012), and Global Index (81 [72-91] vs. 77 [68-90]; p = 0.044). After general anaesthesia (GA; n = 481), EVAN scores were similar between groups. Nefopam use was lower with the comfort approach in RA (7% vs. 18%; p = 0.005). Antiemetic use was lower with the comfort approach in GA. Replacing the NRS with a comfort-focused approach did not improve global patient experience after surgery. In patients receiving regional anaesthesia, however, using a comfort scale was associated with better patient-reported experience in the EVAN "Pain" dimension, while no benefit was observed after general anaesthesia.

We performed deep next-generation sequencing using a 55-gene panel in 590 affected tissue samples from 549 patients referred for various cutaneous birthmarks, mostly vascular anomalies. We confirm that double variants in tissue from vascular anomalies are a rare event. We report the clinical features of eight patients with double variants and discuss their clinical significance and impact on treatment options.

ABSTRACTBackground and AimsCharcot–Marie–Tooth disease (CMT) is a rare hereditary neuropathy that affects peripheral nerves in the upper and lower limbs. To distinguish between the different forms of the disease, electrophysiological criteria are essential. Furthermore, identifying the genetic cause is crucial for providing accurate genetic counseling. The genetic complexity of CMT is partly explained by digenism, where mutations in two distinct genes might contribute to the disease. Two genes involved in mitochondrial dynamics, MFN2 and GDAP1, have been identified in digenic cases of CMT. This retrospective study reports MFN2/GDAP1 digenism cases identified in patients affected by CMT in our laboratory.MethodsWe conducted a retrospective analysis of 1665 patients who underwent NGS using the CMT gene panel between 2016 and 2024. These patients affected by CMT were addressed from neurology reference centers in France. The results were analyzed with bioinformatics tools, initially using the hg19 reference genome and then the hg38 version.ResultsOut of 1665 patients, 367 positive cases were identified, corresponding to a 22% molecular diagnostic rate, excluding PMP22 duplications. Among these, 15 cases involved variants in two distinct genes, resulting in a 4% digenism rate. Five cases involved MFN2/GDAP1 variants, accounting for 1.4% of the total positive results and 33% of all digenic cases.InterpretationThe cases of digenism have a significant prevalence in CMT disease and may explain the severity of the phenotype in our patients. Multilocus variants complicate genetic counseling due to non‐Mendelian inheritance. In addition, it is important to distinguish between digenism and modifier genes.

Robotic sleeve gastrectomy (RSG) is gaining place among surgeons. In our initial RSG practice, we noticed that gastric staple line intraoperative bleeding is more frequent and more important compared to the conventional laparoscopic approach. Any technique that could reduce the likelihood of intraoperative bleeding in RSG would be of tremendous benefit. The present video report is a detailed description of a fully RSG using complete gastric staple line bioabsorbable reinforcement, minimizing intraoperative bleeding. We present the case of a 32-year-old female patient with severe obesity (weight = 132 kg; BMI = 46.8 kg/m2) that underwent fully RSG in our department. RSG technique is thoroughly described, highlighting several important aspects of RSG, including (i) patient positioning to optimize access and ergonomics; (ii) the use of a Nathanson liver retractor, avoiding interference with robotic arms; (iii) trocar placement strategy; (iv) intraoperative selection of stapler reloads; and (v) the use of a bioabsorbable reinforcement (Seamguard®, Gore) for staple line reinforcement and bleeding minimization. Operative time was 180 min, and, blood loss was minimal (< 10 ml). The patient was discharged on postoperative day 1. Postoperative recovery was uneventful, without bleeding, gastric leak, or other complications. Only simple oral analgesics were required postoperatively. At 1-month follow-up visit, the patient had lost 10 kg and reported significant improvement in overall health. Complete gastric staple line bioabsorbable reinforcement seems to decrease intraoperative bleeding when the robotic approach is used for sleeve gastrectomy. Prospective randomized studies are needed to validate this approach as gold standard practice for RSG.

Interfering RNA therapies (RNAi) have changed the management of patients with hyperoxaluria type 1 (PH1); data in dialysis remain scarce. A PH1 teenager undergoing intensive hemodiafiltration received lumasiran. POx levels almost halved during the loading phase (98 to 52µmol/L), but rebound occurred when doses were quarterly-spaced, with POx at 94 µmol/L at 5 months. Lumasiran injections were therefore performed monthly, allowing adequate POx control (52µmol/L) and isolated kidney transplantation. We also evaluated POx in 26 non-PH1 children with current dialysis techniques at a median(range) age of 10.9 (2.6-17.0) years, time on dialysis 14 (0-52) months, and POx 35 (8-125) µmol/L; residual diuresis was associated with lower POx. Circulating glycolate levels were normal in non-PH1 patients. Intensification of lumasiran therapy is possible in dialysis and improves POx levels before kidney transplantation; POx levels in non-PH1 pediatrics patients in dialysis are provided to improve decision making in transplantation.

We present a novel method combining fluorescence spectroscopy and diffuse reflectance measurements for liver graft viability assessment. Our approach corrects for tissue optical properties, enabling accurate fluorophore quantification. The method was validated on tissue-mimicking phantoms and porcine ischemia-reperfusion models.