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Single-stage surgical repair of a pre-coarctation aortic arch aneurysm and arteria lusoria
No full textInternational audienceAbstract Managing an adult patient with aortic coarctation and associated anomalies presents a significant surgical challenge. We present a case of an adult male with aortic coarctation, pre-coarctation distal arch 7-cm aneurysm involving the origin of the left subclavian artery, and aberrant (lusoria) right subclavian artery. He was managed with one surgical approach, consisting of right carotid-subclavian bypass, exclusion of the right subclavian artery, proximal descending aortic replacement and reinsertion of left subclavian artery, using partial cardiopulmonary bypass
Treatment of type 2 diabetes with MASLD: new evidence for personalised medicine
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Effects of Three Different Distance/Elevation-Gain Ultra-Trail Races on Red Blood Cell Oxidative Stress and Senescence, and Blood Rheology
No full textInternational audiencePurpose Red blood cells (RBCs) senescence and blood rheology during ultra-endurance running events appear to be impacted differently depending on the race distance. The physiological mechanisms underlying these differences are poorly understood. Methods We investigated the effects of three different ultra-trail running races performed in La Reunion Island (Mascareignes, “the 70 km”, 70 km/4,000 m D+; Trail Du Bourbon, “the 100 km”, 100 km/6,090 m D+; Diagonale des Fous, “the 170 km”, 170 km/10,500 m D+) on RBC oxidative stress, RBC senescence and blood rheology in 66 finishers (18 “70 km”, 24 “100 km”, 24 “170 km”). Results We observed a decrease in RBC antioxidant enzyme activities (superoxide dismutase, glutathione peroxidase and catalase) positively related to the race distance, and an increase in RBC H 2 O 2 and isoprostane levels after the three races. However, RBC H 2 O 2 and isoprostane levels were found to be higher after the 70 km compared to the 170 km and the 100 km races. RBC phosphatidylserine externalization increased over baseline value after the 70 km only. Chymotrypsin-like and trypsin-like activities of the RBC proteasome were decreased after all races compared to before. RBC-derived microparticles (RBC-MPs) were increased after the 170 km and the 70 km races. Despite increased RBC senescence markers, RBC deformability increased after the three races. Blood viscosity was differently impacted by the three races with a decrease at low shear rate after the two longest races (the 170 km and the 100 km), and an increase at high shear rate after the shortest one (the 70 km). Conclusions Our results confirm that ultra endurance running events differently impact on RBC senescence markers and blood viscosity depending on the race distance, and suggest that RBC oxidative stress could play a key role in the observed alterations
Recommandations pour la pratique clinique : prévention et prise en charge de l’infection par le virus varicelle zona (VZV) pendant la grossesse et la période périnatale (version longue)
No full textInternational audienceThe Société de Pathologie Infectieuse de Langue Française released in 2024 a new national recommendation for clinical practice on the prevention and management of varicella zoster virus (VZV) infection during pregnancy and the perinatal period.The previous recommendation was issued in 1998, at a time of anti-VZV immunoglobulins shortage; it has hence become obsolete.This recommendation is a formalized expert consensus focusing on infectious diseases management; it is drawn up by a multidisciplinary working group (infectiologists, obstetricians, pediatricians, microbiologists, midwives, hygienists).It has been endorsed by the Collège National des Gynécologues Obstétriciens Français, the Société Française de Médecine Périnatale, the Société Française de Néonatologie, the Collège des Sage-femmes, and the Groupe Infections et Périnatalité of the Société Française de Microbiologie.The aim of this article is to explain and recontextualize the elements of this recommendation.Une nouvelle recommandation nationale pour la pratique clinique sur la prévention et la prise en charge de l’infection par le virus varicelle zona (VZV) pendant la grossesse et la période périnatale est parue en 2024, sous l’égide de la Société de Pathologie Infectieuse de Langue Française.La précédente recommandation, publiée en 1998 pendant une période de pénurie en immunoglobulines spécifiques, était devenue en effet obsolète.Il s’agit d’un consensus formalisé d’experts élaboré par un groupe de travail multidisciplinaire (infectiologues, obstétriciens, pédiatres, microbiologistes, sage-femme, hygiénistes), dont le champ est infectiologique.Cette recommandation a été endossée par le Collège National des Gynécologues Obstétriciens Français, par la Société Française de Médecine Périnatale, par la Société Française de Néonatologie, par le collège des Sage-femmes, et par le Groupe Infections et Périnatalité de la Société Française de Microbiologie.L’objectif de cet article est d’expliciter, en les recontextualisant, les éléments de cette mise à jour
Surgical planning of small intestine neuroendocrine tumors: the concept of mesenteric tumor deposits
No full textInternational audienceThe mesenteric extension of small neuroendocrine tumors is the surgical limiting factor because of the risk of postoperative short bowel syndrome due to superior mesenteric artery involvement. Recent pathological studies have shown that this vascular involvement is due to mesenteric tumor deposits, differentiated from lymph node metastases. The aim of this study was to evaluate the performances of computed tomography (CT) for the surgical planning of small intestine neuroendocrine tumors. This was a retrospective observational study, and all patients undergoing surgery for small intestine neuroendocrine tumor between January 2014 and March 2019 were included. Preoperative CTs were reviewed, blinded from surgical and pathological data, by two radiologists. Diagnostic accuracy and interobserver reliability analysis were performed. We included 45 patients (mean age: 61 years (28–84 years); 23 men). The CT sensitivity to identify the mesenteric mass was 97% (37/38) with a ĸ of 0.73. The positive predictive value of CT to anticipate a right colic resection was 86% (18/21). The negative predictive value of CT was high (97% (34/35) to 100% (35/35)) for duodenal resection ( ĸ = 0.78). Regarding retropancreatic lymph node invasion, the CT sensitivity was poor (24%, 4/17), with a high ĸ (0.88). The level of involvement by the mesenteric mass was correlated with the length and the percentage of the remaining small bowel. CT is essential for the surgical planning of small intestine neuroendocrine tumors, being accurate in defining the mesenteric tumor deposits, allowing one to anticipate, with a good reproducibility, the length and percentage of the remaining small bowel and the necessity for a right colectomy
ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias
No full textInternational audienceImportance Alternating hemiplegia of childhood (AHC) is a disorder that can result from pathogenic variants in ATP1A3 -encoded sodium-potassium adenosine triphosphatase alpha 3 (ATP1A3). While AHC is primarily a neurologic disease, some individuals experience sudden unexplained death (SUD) potentially associated with cardiac arrhythmias. Objective To determine the impact of ATP1A3 variants on cardiac electrophysiology and whether lethal ventricular arrhythmias are associated with SUD in patients with AHC. Design, Setting, and Participants In this international, multicenter case-control study from 12 centers across 10 countries, patients with AHC were grouped by ATP1A3 variant status (positive vs negative) and into subgroups with the most common AHC variants (D801N, E815K, G947R, and other). A healthy control cohort was established for comparison. Blinded, manual measurements of QT intervals and corrected QT interval (QTc) were performed independently by 2 pediatric cardiac electrophysiologists. Induced pluripotent stem cell cardiomyocytes were derived from patients with AHC who were positive for the D801N variant of ATP1A3 (iPSC-CM D801N cells). Data analysis was performed from April to June 2022. Exposure Presence of ATP1A3 variant. Main Outcomes and Measures The primary outcome was QTc. Outcomes, including survival, were abstracted and variants were mapped on cryogenic electron microscopy structure maps. iPSC-CM D801N cells were used to validate ventricular repolarization and arrhythmic susceptibility in vitro. Results Among the 222 individuals included (148 with AHC and 74 control), the mean (SD) age at diagnostic electrocardiography was 11.0 (9.4) years and 119 (54%) were female. The cohort with AHC consisted of 148 largely unrelated probands (mean [SD] age at diagnostic electrocardiography, 11.5 [10.5] years). Of these, 123 individuals were ATP1A3 genotype positive, including 35 (28%) with the D801N variant, 21 (17%) with the E815K variant, 8 (7%) with the G947R variant, and 8 (7%) with a loss-of-function variant. Probands with the D801N variant had shorter mean (SD) QTcs (381.8 [36.6] milliseconds; 24 [69%] with QTc <370 milliseconds) compared with those who had the E815K variant (393.6 [43.1] milliseconds; P = .001; 4 [19%] with QTC <370 milliseconds), the G947R variant (388.4 [26.5] milliseconds; P = .02; 1 [13%] with QTc <370 milliseconds), a loss-of-function variant (403.0 [33.5] milliseconds; P < .001; 1 [13%] with QTc <370 milliseconds), all other variants (387.8 [37.1] milliseconds; P < .001; 44 [86%] with QTc <370 milliseconds), and healthy controls (415.4 [21.0] milliseconds; P < .001; 0 with QTc <370 milliseconds). Three D801N-positive individuals had a major cardiac event, compared with 0 major cardiac events in all other individuals ( P = .02). The D801N variant and 4 rare variants (D805N, P323S, S772R, and C333F) found in individuals with the shortest QTcs localized to the potassium-binding domain of ATP1A3. IPSC-CM D801N lines demonstrated shortened action potential duration, higher mean diastolic potential, and delayed afterdepolarizations compared with controls. Conclusions and Relevance Nearly 70% of individuals with D801N variants of ATP1A3 had short QTcs (<370 milliseconds), with an association between ventricular arrhythmias and cardiac arrest. This may underlie the SUD etiology in AHC
Semaglutide 2.4 mg in French people living with Class 3 obesity and comorbidities: Baseline characteristics and real-world safety data
No full textInternational audienceAim:- To describe baseline characteristics and safety data of real-world use of semaglutide 2.4 mg. Methods:- Patients with a body mass index (BMI) >= 40 kg/m2 and at least one of the following treated weight- related comorbidities (WRC: hypertension, dyslipidemia, obstructive sleep apnea, cardiovascular disease) were eligible to receive treatment through Temporary Utilization Authorization (TUA: March to June 2022) or Early Access Program (EAP: July 2022 to October 2023). Data were collected according to Health Authorities' requirements. Only descriptive statistics were used. Results:- Overall, 5,797 (62.8%) treatment requests were sent by sites specialized in obesity management. In total, 478 and 8,568 patients were treated within TUA and EAP cohorts respectively, with mean follow-up durations of 1.2 and 4.5 months, respectively. Mean (SD) BMI was 48.9 (9.7) and 47.0 (7.4) kg/m2, respectively. Age ranged from 18 to 81 years. In the EAP, 57.4%, 26.5%, 12.3% and 3.7% of patients had 1, 2, 3 and 4 WRC. In addition, 15.5% had type 2 diabetes, 18.1% reported depression and 15.4% had osteoarthritis. In the EAP, 247 (2.9%) patients discontinued treatment after a median time of 2.8 months (IQR: 1.2-5.1), mainly due to adverse events (AEs) (47.0%). During TUA, 3 patients discontinued due to AEs. Pancreatitis was reported in 7 cases overall. Conclusion:- The high number of treatment prescriptions in a short period highlights the high unmet medical need. No new safety concerns were identified in this population with severe obesity treated in a real-world setting
La transition des patients porteurs d’une épilepsie et de handicaps associés
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Long‐term urinary outcomes in classic bladder exstrophy: results of an extensive follow‐up
No full textInternational audienceObjectives : To evaluate long‐term outcomes and predictive factors of urinary continence (UC) and fecal continence (FC) after surgery for classic bladder exstrophy (CBE) using validated questionnaires. Patients and Methods : This study is part of the QUALEXSTRO study, a retrospective, observational, single‐centre cohort study assessing through questionnaires UC, FC, sexuality, fertility, and quality of life in patients treated for CBE, who were aged of at least 15 years at evaluation. Herein, UC and FC were assessed using the International Consultation on Incontinence Questionnaire‐Urinary Incontinence Short Form (ICIQ‐UI SF) and the Fecal Incontinence Quality of Life Scale (FIQL), respectively. Results : Of the 63 eligible patients, 42 patients responded to the study (response rate 66.7%). Most patients were treated using the modern staged repair exstrophy technique (88.1%) with pelvic osteotomy (95.2%). A total of 69% of patients underwent continent urinary diversion, 61.9% underwent augmentation enterocystoplasty (AEC), and 7.1% underwent bladder neck closure. Additional endourological procedures were performed in 45.2% of patients. The median (interquartile range [IQR]) age and follow‐up were 26 (18–35) years and 22 (17–32) years, respectively. Regarding the voiding mode, 21.4% of patients were able to void spontaneously per urethra without intermittent catheterisation, while 76.2% performed clean intermittent self‐catheterisation (CISC). All patients who underwent AEC performed intermittent catheterisation. The median (IQR) ICIQ‐UI SF score was 8 (0–13) and was significantly better in women ( P = 0.002). A total of 13 patients (30.9%) were continent (ICIQ‐UI SF score = 0). Of these, three were able to void spontaneously per urethra, 10 used CISC, and seven underwent AEC. Most patients (66.7%) did not respond to the FIQL questionnaire since they had no concerns regarding FC. Conclusions : Achieving UC depends on both initial and subsequent surgeries, with few patients able to void per urethra during adulthood. Women have better urinary outcomes than men
Improving the diagnostic of absorptive hypercalciuria: a comparative analysis of calcium load tests at 2-hour and 4-hour intervals
No full textInternational audienceABSTRACT Introduction The calcium load test (CLT) was developed by Pak et al. in 1974 to better discriminate hypercalciuria. Absorptive hypercalciuria (AH) is defined by an increase of the difference between urinary calcium/creatinine ratio (ΔUCa/Cr) of more than 0.5 mmol/mmol with a 4-hour CLT. In clinical practice and more recent studies, CLT is a 2-hour test. We hypothesized that the 4 h timepoint is more efficient in AH diagnosis. Methods We report a single-centre retrospective study including all patients who underwent CLT because of hypercalciuria or hyperparathyroidism. After a 3-day low-calcium diet and a 12-hour fast, 24-hour urines were collected. Blood and urinary samples were done at arrival and after 2 h and 4 h of oral ingestion of 1 g of calcium. AH was diagnosed by ΔUCa/Cr between baseline and 2 h or 4 h of more than 0.05 mmol/mmol. Results We included 328 patients. Baseline UCa/Cr ratio was 0.3 ± 0.2 mmol/mmol and increased significantly after 2 h and 4 h (0.6 ± 0.3 and 0.8 ± 0.4 mmol/mmol, P < 0.001). ΔUCa/Cr was significantly different between baseline and 2 h or 4 h (0.2 ± 0.2 versus 0.5 ± 0.4, P < 0.001). AH was diagnosed in 35 (10.7%) patients after 2 h, 84 (25.6%) more were diagnosed at 4 h (P < 0.001). Conclusions The 4 h CLT improves the diagnosis of AH with more than 50% of AH diagnosed within 4 h of calcium ingestion. It seems that there are cases of AH of later diagnosis with a similar clinical and biological profile depending on enteral absorption