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Maladies rares, un sujet pour les médecins généralistes ?
No full textInternational audienceOver the past 20 years, ambitious public policies have been implemented in France to address the issue of “rare diseases”. The law on public health policy promulgated on August 9, 2004 makes the fight against these diseases one of five public health priorities. As a result, France was the first country in Europe to set up a National Public Health Plan for Rare Diseases (PNMR). Today, on an international scale, France is undoubtedly one of the best-endowed countries in terms of expert centers and reference centers, which cover the entire country. Indeed, the stakes are high: more than 3 million people are affected by a rare disease, and despite the progress made by the three National Plans for Rare Diseases (PNMR) deployed since 2005, misdiagnosis remains a complex challenge. General practitioners are in the front line when it comes to referring patients presenting an atypical clinical picture potentially suggestive of a rare disease. But what exactly is their relationship with the complex subject of rare diseases?Depuis 20 ans, des politiques publiques ambitieuses sont déployées en France sur la question des « maladies rares ». La loi relative à la politique de santé publique promulguée le 9 août 2004 fait de la lutte contre ces pathologies l’une des cinq priorités de santé publique. De ce fait, la France est le premier pays d’Europe à avoir mis en place un Plan National de Santé Publique Maladies Rares (PNMR). Elle est aujourd’hui, à l’échelle internationale, sans doute l’un des pays les mieux dotés en centres experts et centres de références, qui maillent l’ensemble du territoire national. L’enjeu est, en effet, significatif : plus de 3 millions de personnes sont affectées par une maladie rare et, malgré les avancées permises par les trois Plans nationaux Maladies Rares (PNMR) déployés depuis 2005, l’errance diagnostique reste un défi complexe à relever. Les médecins généralistes sont en 1ère ligne dans l’orientation de patients présentant un tableau clinique atypique potentiellement suspect de maladie rare. Mais quel est, au juste, leur rapport à ce sujet complexe des maladies rares
Immune Checkpoint Inhibitor Myocarditis and Left Ventricular Systolic Dysfunction
No full textInternational audienceBackground: Immune checkpoint inhibitors (ICIs) have transformed cancer treatment, but ICI myocarditis (ICI-M) remains a potentially fatal complication. The clinical implications and predictors of left ventricular ejection fraction (LVEF) <50% in ICI-M are not well understood.Objectives: The aim of this study was to identify factors associated with LVEF <50% vs ≥50% at the time of hospitalization for ICI-M. A secondary objective was to evaluate the relationship between LVEF and 30-day all-cause mortality.Methods: The International ICI-Myocarditis Registry, a retrospective, international, multicenter database, included 757 patients hospitalized with ICI-M. Patients were stratified by LVEF as reduced LVEF (<50%) or preserved LVEF (≥50%) on admission. Cox proportional hazards models were used to assess the associations between LVEF and clinical events, and multivariable logistic regression was conducted to examine factors linked to LVEF.ResultsOf 757 patients, 707 had documented LVEFs on admission: 244 (35%) with LVEF <50% and 463 (65%) with LVEF ≥50%. Compared with patients with LVEF ≥50%, those with LVEF <50% were younger (<70 years), had a body mass index of <25 kg/m2, and were more likely to have received chest radiation (24.2% vs 13.5%; P < 0.001). Multivariable analysis identified predictors of LVEF <50%, including exposure to v-raf murine sarcoma viral oncogene homolog B1/mitogen-activated protein kinase inhibitors, pre-existing heart failure, dyspnea at presentation, and at least 40 days from ICI initiation to ICI-M onset. Conversely, myositis symptoms were associated with LVEF ≥50%. LVEF <50% was marginally associated with 30-day all-cause mortality (unadjusted log-rank P = 0.062; adjusted for age, cancer types, and ICI therapy, HR: 1.50; 95% CI: 1.02-2.20).Conclusions: Dyspnea, time from ICI initiation, a history of heart failure, and prior cardiotoxic therapy may be predictors of an initial LVEF <50% in patients with ICI-
No difference in 5‐year survivorship between cemented versus cementless total knee arthroplasty in a cohort of 5266 patients using a deep‐dish mobile bearing implant
No full textInternational audienceAbstract Purpose The best fixation method for total knee arthroplasty (TKA) remains controversial. The aim of this study is to compare the effect of cemented and cementless fixation on prosthesis survivorship. Our primary hypothesis is that there is no difference in survivorship between cemented and cementless TKA. Our secondary hypothesis is that there is no difference in aseptic revisions and functional outcomes between cemented and cementless TKA at mid‐term follow‐up. Methods A multicentre retrospective study was done using data collected prospectively in a large cohort. The same deep‐dish mobile bearing design was used for both cemented and cementless TKA. Patients were divided into two groups according to the fixation method. The survival rate between cemented and cementless TKA was compared. Functional outcomes were collected preoperatively and at the 5‐year follow‐up. Results Of the 5266 primary TKA included, 4549 were cementless, and 717 were cemented. At 5 years, there was no significant difference between the survivorship of the cementless (98.7% [95% confidence interval, CI: 98.2–99.1]) and cemented TKA (97.6%, [95% CI: 94.1–99.1]) ( p = 0.468). There was no significant difference in the surgery‐free survival at 5 years between cementless (95.8% [95% CI: 94.9–96.5]) and cemented TKA (95.5% [95% CI: 92.1–97.5]) ( p = 0.508) as well as in aseptic revision: cementless (96.9% [95% CI: 96.2–97.5]) and cemented TKA (97.5 [95% CI: 95.5–98.6]) ( p = 0.355). There was no significant difference in the functional outcomes at 5 years. Conclusion There was no observed difference in survivorship between cemented and cementless TKA at 5 years in this cohort of 5266 patients. Additionally, rates of reoperation and aseptic revision were similar across both fixation methods, and clinical outcomes did not differ significantly. Therefore, it may be suggested that cementless fixation is a safe option for primary TKA. Level of Evidence Level III
PRRT plus holmium‐166‐ SIRT ( HEPAR PLuS ) versus PRRT ‐only in patients with metastatic neuroendocrine tumors: A propensity‐score matched analysis
No full textInternational audienceAbstract Patients with bulky neuroendocrine liver metastases (NELM) undergoing PRRT with [ 177 Lu]Lu‐DOTATATE have a worse survival than patients with limited liver metastases. Previously, the safety and efficacy of additional selective internal radiotherapy (SIRT), using holmium‐166 ( 166 Ho)‐microspheres, directly following PRRT in patients with NELM were confirmed in the prospective HEPAR PLuS study. The aim of the current study was to provide insight into the efficacy and survival benefit of PRRT + 166 Ho‐SIRT over PRRT‐only by means of a propensity score matched historical cohort. A multicenter retrospective data collection was performed to match patients treated with PRRT‐only to the prospectively collected HEPAR PLuS study patients. Demographic, clinical, laboratory, and imaging data were collected. The primary endpoint was the proportion of patients with progression‐free survival (PFS) at 2 years after the start of PRRT. Secondary endpoints included the proportion of patients with 2‐year hepatic PFS (hPFS), general PFS and hPFS, objective response rates (ORR), and overall survival (OS). Twenty‐four patients were 1:1 matched and included in the analysis. All key matching criteria were balanced between cohorts if feasible. The proportion of patients with PFS and hPFS at 2 years was 68% and 82% after PRRT + 166 Ho‐SIRT versus 55% and 50% after PRRT only. Time to median PFS was comparable (31 vs. 30 months). An initial delay in hepatic progression or death of any cause was observed in PRRT + 166 Ho‐SIRT mNET patients (75% probability of PFS at 27 vs. 22 months), most notably in intestinal tumors (75% probability of PFS at 26 vs. 15 months). Best ORR was 71% after PRRT + 166 Ho‐SIRT versus 25% after PRRT only. This study showed that 166 Ho‐SIRT after PRRT (vs. PRRT‐only) had a positive effect on the liver disease progression in patients with NELM, increasing the 2‐year hPFS rate and tumor response and delaying hepatic progression or death. However, this effect did not translate into improving general PFS and OS
PARKIN Inactivation Links Parkinson's Disease to Melanoma
No full textInternational audienceBackground: Melanoma incidence is higher in patients affected by Parkinson's disease (PD) and vice versa, but the genetic link shared by both diseases is unknown. As PARK2 is both a tumor suppressor gene and frequently mutated in young onset PD, we evaluated the role of PARK2 in melanoma predisposition and progression.Methods: An in-depth PARK2 gene dosage analysis and sequencing was performed on 512 French case patients and 562 healthy control patients, as well as sporadic tumors and melanoma cell lines. The frequency of genetic alterations was compared between case patients and control patients using two-sided Fisher's exact tests and odds ratio (OR) calculations. We used western blotting to determine PARKIN expression in melanocytes and melanoma cell lines and transfection followed by clonogenic assays to evaluate the effect of PARKIN expression on cellular proliferation. All statistical tests were two-sided.Results: Germline PARK2 mutations (including copy number variations, splicing, and putative deleterious missense mutations) were present in 25 case patients but only four control patients (OR = 3.95, 95% confidence interval = 1.34 to 15.75). Copy number variations (CNVs) and loss of heterozygosity were present in 60% and 74%, respectively, of primary tumors. PARKIN protein was expressed in melanocytes but not in most melanoma cell lines, and its expression decreased following melanocyte transformation by oncogenic NRAS. Re-expression of PARKIN in melanoma cell lines resulted in a drastic reduction of cell proliferation and inhibition of PARKIN in melanocytes stimulated their proliferation.</div
Is bicortical femoral pin insertion safe for Image-based Robotic Knee Arthroplasty Surgery ? A comparative complications analysis in 970 Consecutive Cases
No full textInternational audienceOBJECTIVES: Limited data exists on complications associated with robotic image-based system in knee arthroplasty. This study aims to document complications in robotic arm-assisted knee arthroplasties, and evaluate the system's safety by comparing two femoral pin insertion methods: bicortical diaphyseal with additional stab wounds, and unicortical metaphyseal placement through the main incision.METHODS: All patients undergoing primary knee arthroplasty with the image-based robotic system (Mako, Stryker, Mako Surgical Corp., Fort Lauderdale, FL, USA) from 1st March 2021 to 31st January 2024 with a minimum follow-up of 2 months were included. Demographics, system and non-system-related complications, as well as outcomes were recorded. Complications were categorized as either major (requiring a second surgical intervention) or minor.RESULTS: A total of 970 consecutive cases (median age 69.3 years) were analyzed. The unicortical group comprised 651 cases, while the bicortical group 319. The incidence of non-system-related complications was 2.37%, with the most common being joint stiffness (10 cases; 1.03%), followed by lateral femoral condyle fracture (4;0.41%). The overall incidence of system-specific complications was 1.03%. Pin-related femoral fractures occurred in 0.2% of cases, all postoperatively and in the unicortical group. There was no statistically significant difference between the femoral pin insertion-related complication rates among the two groups (0.3% in the unicortical, compared to 0% in the bicortical group; p-value= 0.3). Complications included tibia fracture (0.1%), delayed wound healing (0.2%), superficial wound infection (0.1%), tibia osteomyelitis (0.1%), and "exostosis" (0.2%). The major complications rate was 0.3% and minor 0.7%.CONCLUSIONS: Minimal system-specific overall complications indicate that robotic arm-assisted surgery is safe. The bicortical diaphyseal femoral pin insertion method does not increase the complication rates compared to the unicortical metaphyseal method
Five and 10-year evolution of longitudinal melanonychia appearing before the age of 5: A multicenter prospective cohort study from the International Dermoscopy Society
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Innovative approaches to organ preservation in heart transplantation: A comprehensive review by the French Society of Thoracic and Cardiovascular Surgery
No full textJ.G. received travel fees from TransMedics (Andover, USA). The other authors declare that they have no competing interest.International audienceImproved approaches for organ preservation have been recently applied in heart transplantation to prevent the risk of primary graft dysfunction. To review heart-graft preservation systems and to identify criteria for using innovative devices in each specific situation. A working group of the French Society of Thoracic and Cardiovascular Surgery performed a literature review focusing on organ preservation and post-transplant outcomes. Static cold storage is the most widely used method but involves cold ischaemia and is therefore limited for prolonged preservation. Optimizing this method by ensuring uniform and stable cooling (SherpaPak™) seems to be associated with favourable results, even with expanded-criteria grafts. Continuous normothermic organ perfusion (Organ Care System) shortens the cold ischaemia time, thus maintaining heart-graft viability despite long transportation times or long waits to achieve complex recipient-heart explantation. Moreover, this method can rehabilitate Maastricht III heart grafts. Continuous hypothermic oxygenated perfusion (XVivo™, not yet approved by regulatory authorities) has recently been associated with favourable outcomes, even in case of extended out-of-body preservation>8hours. The new devices for heart preservation can be expected to allow successful transplantation despite long transport times, lengthy explantation procedures and the use of grafts from expanded-criteria donors, including donors after controlled circulatory arrest. Further studies are needed to assess patient and graft outcomes, determine the optimal device for each situation and evaluate the cost-benefit ratio
Cardiac Amyloidosis Screening and Management in Patients With Heart Failure With Preserved Ejection Fraction: An International Survey
No full textInternational audienceCardiac amyloidosis (CA) is still an underdiagnosed cause of heart failure (HF) and early disease recognition and timely disease-modifying therapy (DMT) administration translate to better outcomes. We aimed to assess CA screening and management approaches for patients with HF preserved ejection fraction (HFpEF) among physicians worldwide. An independent academic web-based survey was distributed worldwide between May 2023 and July 2023. Overall, 1,460 physicians (61% were men, median age was 42 [34 to 49] years) from 95 countries completed the survey. A total of 2/3 of respondents had experience diagnosing CA and reported having 10% of patients with CA in patients with HFpEF. Systematic screening for CA of all patients with HFpEF was performed by 10% of responders, whereas 24% did not consider the screening. Most responders (39%) used left ventricular hypertrophy as a screening criterion. Serum protein electrophoresis with immunofixation of free light chain and urine protein electrophoresis or cardiac magnetic resonance were selected by half of the responders as a first-line diagnostic tool. The combination of serum protein electrophoresis with immunofixation free light chain, urine protein electrophoresis, and bone scintigraphy was considered by 32% of the participants. CA DMT was available for 48% of the physicians. About 82% of responders would administrate HF to patients with HFpEF with CA, with the most preferable drugs being diuretics, sodium-glucose cotransporter-2 inhibitors, and renin-angiotensin-aldosterone system inhibitors. In conclusion, the results reveal the uncertainties among physicians worldwide regarding the need for CA screening of patients with HFpEF. CA remains a disease with very heterogeneous management, particularly, in the screening and diagnostic workup. The HF community should aim to educate on CA and improve access to DMT
The definition of clinical obesity is changing!
No full textInternational audienceNo abstract availabl