1,020 results match your criteria: "Timone University[Affiliation]"

Improved nationwide survival of sarcoma patients with a network of reference centers.

Ann Oncol

April 2024

Department of Medicine, Gustave Roussy Cancer Campus, Villejuif; Department of Surgery, Gustave Roussy Cancer Campus, Villejuif.

Background: We investigated the impact of the implementation of a network of reference centers for sarcomas (NETSARC) on the care and survival of sarcoma patients in France since 2010.

Patients And Methods: NETSARC (netsarc.org) is a network of 26 reference sarcoma centers with specialized multidisciplinary tumor boards (MDTBs), funded by the French National Cancer Institute (INCa) since 2010.

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Secondary complications in Wassel II & IV thumb duplication: a comprehensive review of preventive measures.

Hand Surg Rehabil

April 2024

Division of Plastic and Reconstructive Surgery, University of Montreal, Montreal, QC, Canada; Division of Plastic and Reconstructive Surgery, CHU Sainte-Justine, Montreal, QC, Canada. Electronic address:

Objectives: Thumb duplication is one of the most challenging pediatric reconstructive hand surgeries. Wassel types II and IV are the most frequent, but also the most complex reconstructions as the duplication arises at the joint level. Ablation and reconstruction, the most widely used technique, aims at achieving a stable, well-aligned, mobile and esthetically acceptable thumb.

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Pheochromocytomas/paragangliomas are unique in their highly variable molecular landscape driven by genetic alterations, either germline or somatic. These mutations translate into different clusters with distinct tumor locations, biochemical/metabolomic features, tumor cell characteristics (eg, receptors, transporters), and disease course. Such tumor heterogeneity calls for different imaging strategies in order to provide proper diagnosis and follow-up.

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Background: This multicenter Phase I study (NCT03585465) evaluated nivolumab in combination with 3 metronomic chemotherapy (MC) regimens in children with refractory/relapsing solid tumors.

Objectives: To evaluate the feasibility and safety of the three regimens METHODS: Patients aged < 18 years were enrolled. Nivolumab was combined with cyclophosphamide and vinblastine (arm A), capecitabine (arm B), or cyclophosphamide, vinblastine and capecitabine (arm C).

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Clinical and functional spectrum of RAC2-related immunodeficiency.

Blood

April 2024

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.

Article Synopsis
  • - Mutations in the RAC2 protein are linked to various immune disorders in patients, including neonatal SCID and infantile diseases resembling leukocyte adhesion deficiency, with 15 new mutations identified among 54 patients studied.
  • - The study highlighted that different types of mutations in RAC2 influenced disease outcomes; for instance, certain mutations led to neonatal SCID while others caused later-onset combined immune deficiency or LAD-like diseases.
  • - Clinical analysis revealed significant immune system issues among affected patients, including low levels of T and B cells, recurrent infections, and abnormalities in neutrophil function, indicating severe impacts on their immune response.
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Economic Burden of Parkinson's Disease: A Multinational, Real-World, Cost-of-Illness Study.

Drugs Real World Outcomes

March 2024

Center for Networked Biomedical Research in Neurodegenerative Diseases (CIBERNED), Carlos III Institute of Health, Madrid, Spain.

Background: Parkinson's disease is now one of the fastest-growing neurodegenerative disorders in the developed world, with an increasing prevalence and associated socioeconomic costs. Progression of the disease leads to a gradual deterioration in patients' quality of life, despite optimal treatment, and both medical and societal needs increase, often with the assistance of paid and/or unpaid caregivers.

Objective: We aimed to quantify the incremental economic burden of Parkinson's disease by disease severity in a real-world setting across differing geographic regions.

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Isolated ejection of the scaphoid proximal pole in perilunate injuries is rare, with only 4 reports in the literature, and does not correspond to the biomechanical situations in the Herzberg or Mayfield classifications. Bone ejection incurs a risk of avascular necrosis despite good osteosynthesis, notably because of precarious vascularization. We present a case of scaphoid proximal pole ejection and a theoretical hypothesis of the biomechanics of this injury.

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Degenerative cervical myelopathy is a pathology frequently encounterd in the neurosurgical practice. Posterior ostophytes located at the posterior part of the vertebral endplate are frequently involved in the reduction of the cervical canal. We propose a description of the technique used in our department to drill this posterior part of the endplate safely with the help of modern instruments and microscope magnification.

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Crossing barriers: the burden of inflammatory bowel disease across Western Europe.

Therap Adv Gastroenterol

December 2023

Department of Gastroenterology, The Royal Wolverhampton NHS Trust, Wolverhampton, UK.

An estimated 2.5-3 million individuals (0.4%) in Europe are affected by inflammatory bowel disease (IBD).

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Article Synopsis
  • * A comprehensive review of published studies highlights the need for updated definitions, consistent patient assessments, and new treatment algorithms to better tailor therapies to individual patients.
  • * The impact of gMG extends beyond physical symptoms, affecting mental health and quality of life, but innovative therapies and biomarkers could lead to improved management and outcomes for patients.
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N-Benzylphenethylamine derivatives are 5-HT2A receptor agonists with hallucinogenic properties, including NBOMe (N-(2-methoxybenzyl)-2-(3,4,5-trimethoxyphenyl)ethan-1-amine) and NBOH (2-(((2,5-dimethoxyphenethyl)amino)methyl)phenol). We reported here the case of a 23-year-old man who presented a serotoninergic syndrome and a loss of consciousness following the consumption of a powder labelled as 25I-NBOH. Toxicological analyses of biological samples were carried out using a liquid chromatography high-resolution mass spectrometry.

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Plasma creatinine phosphokinase (CPK) elevation is frequent after heart transplantation. In the present study, we tested the hypothesis that this CPK elevation is related to idiopathic cardiomyopathy as primary cardiac disease. We included 203 patients who survived >1 year after heart transplantation.

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Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement.

Nat Rev Endocrinol

March 2024

Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

Adult and paediatric patients with pathogenic variants in the gene encoding succinate dehydrogenase (SDH) subunit B (SDHB) often have locally aggressive, recurrent or metastatic phaeochromocytomas and paragangliomas (PPGLs). Furthermore, SDHB PPGLs have the highest rates of disease-specific morbidity and mortality compared with other hereditary PPGLs. PPGLs with SDHB pathogenic variants are often less differentiated and do not produce substantial amounts of catecholamines (in some patients, they produce only dopamine) compared with other hereditary subtypes, which enables these tumours to grow subclinically for a long time.

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Purpose: The aims of the study were to evaluate the performance and robustness of [F]fluorocholine PET/CT in detecting hyperfunctioning parathyroid glands in MEN1-related primary hyperparathyroidism (pHPT) at different stages of their disease.

Methods: Retrospective French multicenter study including patients with MEN1 pHPT who underwent [F]fluorocholine PET/CT at initial diagnosis or for evaluation of persistent/recurrent disease. PET/CT were independently reviewed by two readers in a blinded manner.

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Heterozygous p.Leu39del is a major cause of slow-progressing juvenile ALS.

J Neurol Neurosurg Psychiatry

February 2024

Laboratoire de Biochimie et Biologie Moléculaire, CHU Nimes, Univ Montpellier, Nîmes, France.

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Impact of the first wave of COVID-19 epidemy on the surgical management of sigmoid diverticular disease in France: National French retrospective study.

Int J Colorectal Dis

December 2023

Department of Digestive, Oncological, Endocrine, Hepatobiliary and Liver Transplant, Trousseau Hospital, University Hospital of Tours, Avenue de la République, F37044 Tours, France.

Objective: To analyze the surgical management of sigmoid diverticular disease (SDD) before, during, and after the first containment rules (CR) for the first wave of COVID-19.

Methods: From the French Surgical Association multicenter series, this study included all patients operated on between January 2018 and September 2021. Three groups were compared: A (before CR period: 01/01/18-03/16/20), B (CR period: 03/17/20-05/03/20), and C (post CR period: 05/04/20-09/30/21).

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Unlabelled: Sclerosing Epithelioid Fibrosarcoma (SEF) and Low Grade Fibromyxoid Sarcoma (LGFMS) are ultrarare sarcomas sharing common translocations whose natural history are not well known. We report on the nationwide exhaustive series of 330 patients with SEF or LGFMS in NETSARC+ since 2010.

Patients And Methods: NETSARC (netsarc.

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Purpose: We report the case of an adult patient diagnosed with Hodgkin's lymphoma who was scheduled for Pembrolizumab after failure of standard therapy. After three well-tolerated courses of Pembrolizumab, a PET scan showed a favorable outcome and a fourth course of Pembrolizumab was started. Unexpectedly, extremely severe toxicities (i.

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Clinical and genetic features of patients suffering from CMT4J.

J Neurol

March 2024

Reference Center for Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 05 13385, Marseille, Cedex, France.

Mutations in the FIG4 gene have been identified in various diseases, including amyotrophic lateral sclerosis, Parkinson's disease, and Charcot-Marie-Tooth 4 J (CMT4J), with a wide range of phenotypic manifestations. We present eight cases of CMT4J patients carrying the p.Ile41Thr mutation of FIG4.

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Introduction: The quantification of blood loss in a severe trauma patient allows prognostic quantification and the engagement of adapted therapeutic means. The Advanced Trauma Life Support classification of hemorrhagic shock, based in part on hemodynamic parameters, could be improved. The search for reproducible and non-invasive parameters closely correlated with blood depletion is a necessity.

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Castration-Resistant Prostate Cancer: From Uncovered Resistance Mechanisms to Current Treatments.

Cancers (Basel)

October 2023

Centre de Recherche en Cancérologie de Marseille-CRCM, Inserm UMR1068, CNRS UMR7258, Aix-Marseille University U105, 13009 Marseille, France.

Prostate cancer (PC) is the second most common cancer in men worldwide. Despite recent advances in diagnosis and treatment, castration-resistant prostate cancer (CRPC) remains a significant medical challenge. Prostate cancer cells can develop mechanisms to resist androgen deprivation therapy, such as AR overexpression, AR mutations, alterations in AR coregulators, increased steroidogenic signaling pathways, outlaw pathways, and bypass pathways.

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Deep brain stimulation (DBS) via implanted electrodes is used worldwide to treat patients with severe neurological and psychiatric disorders. However, its invasiveness precludes widespread clinical use and deployment in research. Temporal interference (TI) is a strategy for non-invasive steerable DBS using multiple kHz-range electric fields with a difference frequency within the range of neural activity.

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Reinforcement-based adaptive decision-making is believed to recruit fronto-striatal circuits. A critical node of the fronto-striatal circuit is the thalamus. However, direct evidence of its involvement in human reinforcement learning is lacking.

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