501 results match your criteria: "Thorax Institute[Affiliation]"

RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.

Genet Med

December 2024

Genetics Department, Hospices Civils de Lyon, Lyon, France; Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address:

Article Synopsis
  • RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
  • The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
  • Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
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Diagnostic Testing in Exercise-Induced Bronchoconstriction.

Immunol Allergy Clin North Am

February 2025

Department of Respiratory Medicine, Thorax Institute, Hospital Maciel, Facultad de Medicina, Universidad de la República, 25 de Mayo 174, Montevideo 11000, Uruguay.

Exercise-induced bronchoconstriction (EIB), a reversible airflow obstruction triggered by exercise, should be considered in patients presenting with symptoms of dyspnea, cough, wheeze, and chest tightness during or after vigorous exercise. Over the past several years, various diagnostic modalities have been developed and evaluated for the diagnosis of EIB, giving the clinician multiple options for diagnostic testing. Here, the authors present a review of the various testing options that can be used in the diagnosis of EIB, with a discussion of testing protocols and considerations for choosing the appropriate diagnostic test.

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Background: Data on Absorb bioresorbable vascular scaffold (BVS) use in patients presenting with ST-segment elevation myocardial infarction (STEMI) are limited. Furthermore, Absorb studies including STEMI patients lacked a prespecified implantation technique to optimize BVS deployment. This study examines the 5-year outcomes of BVS in STEMI patients using an optimized implantation strategy and the impact of prolonged dual antiplatelet therapy (DAPT).

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Article Synopsis
  • A multicenter study investigated the frequency of Patient Safety Incidents (PSI) during lung surgeries in France and their effects on postoperative outcomes within 90 days.
  • Out of 1919 surgeries screened, 953 were included, revealing a 32% PSI incidence, which was mostly attributed to human factors, organizational issues, and technology problems.
  • The severity of PSI significantly increased the risk of complications, readmission, and mortality at 90 days, highlighting the importance of addressing human factors in surgical settings.
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: Mitral regurgitation (MR) is the second most common valve disease in Europe, and differences between men and women have been described in relation to aetiology or management, which might impact the decision for intervention and patients' clinical and economic outcomes. Thus, the objective was to analyse the burden of MR in Spain by aetiology and sex, and the management of all patients suffering from MR being admitted to hospital between 2016-2021. : An analysis was carried out with the Ministry of Health's database, including all patients in public and subsidised hospitals and defining two groups, general MR and those patients undergoing Transcatheter Edge-to-Edge repair (TEER), using a descriptive analysis of patients' characteristics, use of resources, and outcomes; standardised rates were calculated and observed outcomes were described.

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Pulmonary sequestrations comprise a spectrum of congenital lung malformations, with abnormal lung tissue lacking connection with the tracheobronchial tree, supplied by an aberrant systemic artery. Until a few years ago, lobectomy was considered the standard treatment for intralobar pulmonary sequestration. However, minimally invasive sublobar resection gained a place as an interesting alternative therapeutic approach, guided by indocyanine green and computed tomography-based 3-dimensional anatomical models.

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Robotic subxiphoid radical thymectomy for a thymoma.

Multimed Man Cardiothorac Surg

October 2024

Thoracic Surgery Department, Curie-Montsouris Thorax Institute, Institut Mutualiste Montsouris, Paris, France.

Robotic-assisted thoracic surgery has emerged as a prominent technique for performing radical thymectomies in patients affected by early-stage thymic tumours. This technique is favoured because of its high ergonomics, superior image quality, enhanced instrument manoeuvrability and exceptional precision. Among the different surgical approaches developed, the unilateral and the bilateral intercostal approaches are the most widely diffused.

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Article Synopsis
  • Aspergillus species are linked to various conditions in bronchiectasis, including ABPA, AS, and increased IgG levels indicating exposure or infection.
  • A study of nearly 10,000 bronchiectasis patients revealed 6.1% with ABPA, 5.7% with AS, and 8.1% with elevated Aspergillus-specific IgG levels, with these conditions associated with more severe lung issues and exacerbations.
  • Long-term follow-up showed that those with raised IgG levels faced more frequent and severe exacerbations, particularly affecting patients not on inhaled corticosteroids.
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T-lymphoblastic lymphoma (T-LBL) and thymoma are two rare primary tumors of the thymus deriving either from T-cell precursors or from thymic epithelial cells, respectively. Some thymoma subtypes (AB, B1, and B2) display numerous reactive terminal deoxynucleotidyl transferase-positive (TdT) T-cell precursors masking epithelial tumor cells. Therefore, the differential diagnosis between T-LBL and TdT T-lymphocyte-rich thymoma could be challenging, especially in the case of needle biopsy.

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Article Synopsis
  • The study aims to improve the detection of cancer stem cells (CSCs) in non-small cell lung cancer (NSCLC) using specific glycan patterns, addressing challenges posed by current resistance mechanisms and relapses.* -
  • Researchers compared a lectin-based method (MIX) for detecting CSCs with the traditional CD133 marker, finding that MIX enriched for more tumorigenic CSCs and showed stronger prognostic value for patient outcomes.* -
  • The findings suggest that MIX may be a more effective CSC marker than CD133, potentially helping clinicians identify early-stage NSCLC patients at greater risk of relapse for better treatment planning.*
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Capmatinib efficacy for METex14 non-small cell lung cancer patients: Results of the IFCT-2104 CAPMATU study.

Lung Cancer

October 2024

Department of Thoracic Oncology, CHU de Lille, CNRS, Inserm, Institut Pasteur de Lille, UMR9020-U1277-CANTHER, Lille, France. Electronic address:

Background: Capmatinib is a selective MET inhibitor with demonstrated efficacy in a phase II study of non-small cell lung cancer (NSCLC) patients harboring METex14 mutations. However, the real-world outcomes of capmatinib are largely unknown. From June 2019, the French Early Access Program (EAP) provided capmatinib to METex14 NSCLC patients who were ineligible for or for whom first-line standard therapies had failed.

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Outcomes Analysis of Patients Receiving Local Ablative Therapy for Oligoprogressive Metastatic NSCLC Under First-Line Immunotherapy.

Clin Lung Cancer

December 2024

Thorax Institute Curie-Montsouris, Hôpital Institut Curie, Paris-St Cloud, France; UVSQ, University Paris Saclay, Versailles, France. Electronic address:

Context: Nonsmall Cell Lung Cancer (NSCLC) treatment relies on first-line immunotherapy as single agent or combined with chemotherapy. Oligoprogression may be observed in this setting.

Material And Method: We performed a European multicentric retrospective study on patients treated with first-line immunotherapy, who presented with oligoprogressive disease, treated with a local ablative treatment.

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The combination of chemotherapy and targeted therapy has been validated in non-small-cell lung cancer (NSCLC) patients with mutations. We therefore investigated whether this type of combined approach could be more widely used by targeting other genetic alterations present in NSCLC. PDXs were generated from patients with NSCLC adenocarcinomas (ADCs) and squamous-cell carcinomas (SCCs).

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Obesity causes metabolic changes, such as the development of cardiovascular diseases. Moreover, physical exercise promotes protection against these diseases. Thus, the objective of the present study was to evaluate whether combined physical training can improve the metabolic system of women with obesity, reducing plasma concentrations of trimethylamine N-oxide (TMAO) and sphingolipids, regardless of weight loss.

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Methodological challenges in rapid molecular testing for pneumonia: Insights and future directions for performing "the perfect" study.

Anaesth Crit Care Pain Med

October 2024

Pulmonology Department, Thorax Institute, Hospital Clínic, Barcelona, Spain; CELLEX Research Laboratories, CibeRes (Centro de Investigación Biomédica en Red de Enfermedades Respiratorias, 06/06/0028), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Faculty of Pharmacy and Food Sciences, Dept. of Microbiology, University of Barcelona, Spain.

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Article Synopsis
  • The study aimed to evaluate safety and survival outcomes of lobectomy, segmentectomy, and wedge resection for early-stage lung cancer using data from the French EPITHOR registry between 2016 and 2022.
  • A total of 19,452 patients were analyzed, finding that lobectomy was the most common procedure (72.2%), and while short-term 90-day mortality rates were similar across the three methods, significant differences emerged in 5-year overall survival.
  • The results indicated that wedge resection was linked to worse long-term survival compared to lobectomy, suggesting that all types of sublobar resections may not provide equal effectiveness in treating lung cancer.
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Background: Positive susceptibility vessel sign (SVS) in patients with acute ischaemic stroke has been associated with friable red blood cell-rich clots and more effective recanalisation using stent retrievers versus contact aspiration. We compared the safety and efficacy of stent retrievers plus contact aspiration (combined technique) versus contact aspiration alone as the first-line thrombectomy technique in patients with acute ischaemic anterior circulation stroke and SVS-positive occlusions.

Methods: Adaptive Endovascular Strategy to the Clot MRI in Large Intracranial Vessel Occlusion (VECTOR) was a prospective, randomised, open-label study with blinded evaluation.

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Reply to Chen : Reexamining Chronic Obstructive Pulmonary Disease in Bronchiectasis: Elucidating Overdiagnosis and Outcomes from EMBARC's ROSE Criteria.

Am J Respir Crit Care Med

July 2024

Pneumology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron Institut de Recerca, Vall d'Hebron Barcelona Hospital Campus, Biomedical Research Centre, Barcelona, Spain; and.

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Introduction: Pathologists are staging thymic epithelial tumors (TET) according to the 8th UICC/AJCC TNM system. Within the French RYTHMIC network, dedicated to TET, agreement on pathologic tumor stage (pT) among the pathology panelists was difficult. The aim of our study was to determine the interobserver reproducibility of pT at an international level, to explore the source of discrepancies and potential interventions to address these.

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COPD and bronchiectasis are commonly reported together. Studies report varying impacts of co-diagnosis on outcomes, which may be related to different definitions of disease used across studies. To investigate the prevalence of chronic obstructive pulmonary disease (COPD) associated with bronchiectasis and its relationship with clinical outcomes.

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Background: Superior segmentectomy is classified as simple due to the single intersegmental plane between the superior and basal segments. However, oncological outcomes in patients undergoing superior segmentectomy tend to be worse compared to those receiving other segmentectomy. The aim of this study is to determine the branching patterns and variations of the bronchus and blood vessels of the superior segment of the right lower lobe (RS).

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The consequences of the strict health restrictions during the first wave of COVID-19 on lung cancer (LC) patients are not known. This cohort study evaluated the impact of the initial lockdown on management of and long-term outcome in LC patients. This exposed-unexposed-type study included two evaluation periods of 6 months each in non-selected patients; one began on the first day of lockdown in 2020, and the other in 2019 during the same calendar period.

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Article Synopsis
  • - Aortic stenosis (AS) severity is hard to assess due to inconsistent metrics, with flow state being crucial for accurate evaluation.
  • - A study analyzed two large cohorts (over 2,000 patients total) and found that both the dimensionless index (DI) and transvalvular flow rate (Q) were significant predictors of mortality in AS patients.
  • - The results suggest that using both DI and Q together could improve the diagnosis and prognosis of patients with aortic stenosis.
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French guidelines for the treatment of cancer-associated venous thromboembolism - 2023 update.

Respir Med Res

November 2023

Paris Cité University; Pulmonology and Intensive Care Department, Georges Pompidou European Hospital, Assistance Publique des Hôpitaux de Paris; INSERM UMRS 1140, Paris; F-CRIN INNOVTE, St-Etienne.

Article Synopsis
  • Recent advancements in understanding cancer-associated thrombosis have prompted the development of new practical guidelines.
  • The guidelines, created by a collaborative effort from various scientific societies within the INNOVTE FCRIN Network, were based on a thorough literature review and adhered to the French National Authority for Health's clinical practice guidelines process.
  • They cover key topics such as epidemiology, treatment strategies, and specific scenarios like recurrent thrombosis and catheter-related issues, aiming to improve patient management in this area.
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