414 results match your criteria: "centre hospitalier régional universitaire de Brest[Affiliation]"

Purpose: Hemophilia A is a rare bleeding disorder that leads to recurrent hemarthrosis, which can ultimately result in reduced mobility and poor quality of life. Qualitative exit interviews provide insights into patient perspectives and support the interpretation of quantitative trial data, such as patient-reported outcome measures. In the Phase 3 XTEND-1 study (NCT04161495) of efanesoctocog alfa in participants with severe hemophilia A, exit interviews were conducted to understand pre- and post-study experiences with pain and physical functioning and to evaluate participants' treatment experiences.

View Article and Find Full Text PDF

[Management of varicose disease].

Rev Prat

September 2024

Unité d'écho-Doppler et de médecine vasculaire, centre hospitalier régional universitaire de Brest, La Cavale Blanche, Brest, France.

MANAGEMENT OF VARICOSE DISEASE. Chronic venous disease (CVD) is a chronic condition for which there is no cure. The therapeutic approach to CVD varies depending on the severity of the disease and must be individually adapted.

View Article and Find Full Text PDF
Article Synopsis
  • * This study analyzed cases of C bantiana infections in France and its territories, involving patients who were diagnosed through a comprehensive surveillance program, focusing on survival rates and the presence of central nervous system (CNS) involvement.
  • * Out of 23 patients identified from 2002 to 2022, 65% had CNS involvement, with a notable increase in cases reported in 2022, indicating a possible correlation with environmental factors like rising temperatures.
View Article and Find Full Text PDF

Use of nanoparticles in radiation oncology.

Cancer Radiother

November 2024

Radiotherapy Department, Grenoble Alps University Hospital, Grenoble, France; Inserm UA7, University of Grenoble Alps, Synchrotron Radiation for Biomedical Research (ESRF), Grenoble, France.

Article Synopsis
  • Radiotherapy plays a crucial role in treating cancer but often struggles with effective local control, especially in advanced tumours that are resistant to radiation.
  • Surrounding healthy tissues often limit how much radiation can be safely used, which can lead to complications.
  • New agents like chemotherapies and targeted monoclonal antibodies have shown promise in improving treatment outcomes, and current research is exploring innovative radioenhancers, particularly nanoparticles like NBTXR3 and AGuIX®.
View Article and Find Full Text PDF

[Events and errors in radiation oncology: Conciliating perspectives to support care].

Cancer Radiother

November 2024

UMR_S 938, service d'oncologie radiothérapie, hôpital Tenon, centre de recherche Saint-Antoine, institut universitaire de cancérologie, Sorbonne université, AP-HP, Paris, France.

The term "event" covers a wide range of concrete situations in radiation oncology, from particularly intense radiation-related side effects to the possibility of technical or human error. Although quality procedures are an integral part of radiotherapy oncology department operations ensuring the analysis and prevention of such events, their occurrence during radiation treatment still has a significant impact on patients and their experience of the treatment process, as well as on health professionals. These practical, emotional and symbolic impacts are all the greater when the event occurs in the aftermath of an error.

View Article and Find Full Text PDF
Article Synopsis
  • The introduction of Next-Generation Sequencing has advanced rare disease diagnostics, yet many cases still lack a molecular diagnosis due to the complexity of these diseases.
  • The new PSAP-genomic-regions method expands on the original PSAP approach by focusing on non-coding genomic regions, allowing for a more comprehensive evaluation of variants.
  • Preliminary results demonstrate that PSAP-genomic-regions effectively prioritizes significant non-coding variants, offering a valuable tool for diagnosing unresolved rare diseases, as evidenced by its success in patient data.
View Article and Find Full Text PDF

Two cases of Francisella tularensis subspecies holartica prosthetic valve endocarditis, and review of the literature.

Eur J Clin Microbiol Infect Dis

November 2024

Laboratoire de Bactériologie-Hygiène Hospitalière, Centre National de Référence Francisella tularensis, Centre Hospitalier Universitaire Grenoble Alpes, CS 10217, Grenoble cedex 9, F-38043, France.

Article Synopsis
  • Francisella tularensis endocarditis is a rare infection that's tough to diagnose, with only a handful of cases documented.* -
  • The report discusses two new cases caused by the subsp. holarctica strain, highlighting their positive outcomes through antibiotic treatment and valve replacement surgery.* -
  • Effective treatment typically involves ciprofloxacin and gentamicin, alongside surgical intervention when required, with suspicion of the infection guided by local epidemiology and patient exposure.*
View Article and Find Full Text PDF

Weight-bearing asymmetry during sit-to-stand (STS) can cause musculoskeletal problems in people with major lower-limb amputation. Does weight-bearing asymmetry differ between individuals with major lower-limb amputation and individuals without amputation? We conducted a systematic review and meta-analysis. We searched PubMed, Cochrane Library, Web of Science, and HAL up to June 2022 using keywords and inclusion/exclusion criteria.

View Article and Find Full Text PDF

Functional Characterization of Splice Variants in the Diagnosis of Albinism.

Int J Mol Sci

August 2024

Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.

Article Synopsis
  • - Albinism is caused by a variety of genes (21 identified), with most cases following an autosomal recessive inheritance pattern, though one form is X-linked; about 70% of cases can be diagnosed through genetic analysis.
  • - Of the undiagnosed cases, roughly 15% carry one pathogenic variant but may have undiscovered variants in non-coding regions; this research involved sequencing a group of 122 heterozygous patients.
  • - From the study, 12 patients received additional diagnoses based on non-coding variants that affected RNA splicing, highlighting the need to investigate non-coding regions to improve diagnostic rates for genetic diseases like albinism.
View Article and Find Full Text PDF

Purpose: Concerns remain with regards to safety of fast-track (FT) and especially outpatient procedures. The purpose of this study was to compare complication rates and clinical outcomes of propensity-matched patients who received FT total hip arthroplasty (THA) in outpatient versus inpatient settings. The hypothesis was that 90-day postoperative complication rates of outpatient FT THA would not be higher than after inpatient FT THA.

View Article and Find Full Text PDF

Defining the landscape of TIA1 and SQSTM1 digenic myopathy.

Neuromuscul Disord

September 2024

Centre de Référence des maladies Neuromusculaires Nord/Est/Ile-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, APHP, 47-83 bd de l'Hôpital, Paris 75013, France. Electronic address:

TIA1/SQSTM1 myopathy is one of the few digenic myopathies. We describe four new French adult male patients carrying the TIA1 p.Asn357Ser and SQSTM1 p.

View Article and Find Full Text PDF

Wnt/β-Catenin-Activated Nonpilomatrical Carcinoma of the Skin: A Case Series.

Mod Pathol

November 2024

Department of Pathology, Université de Tours, Centre Hospitalier Universitaire de Tours, Tours, France; "Biologie des infections à polyomavirus" Team, UMR INRA ISP 1282, Université de Tours, Tours, France.

Article Synopsis
  • The study investigates 16 primary cutaneous carcinomas with mutations in genes that activate the Wnt/β-catenin pathway, noting that these tumors lack matrical differentiation, which is typically associated with such mutations.
  • The tumors predominantly affected elderly patients, with a median age of 80, and were mainly located on the head, neck, and upper limbs, leading to metastatic cases in some patients.
  • Key findings include poor differentiation in tumor structure, distinct immunohistochemical profiles, and recurrent mutations in APC and CTNNB1, indicating that these tumors represent a unique group apart from other established skin tumor types.
View Article and Find Full Text PDF

Predelivery Haemostatic Biomarkers in Women with Non-Severe Postpartum Haemorrhage.

J Clin Med

July 2024

Department of Medicine I, Clinical Division of Haematology and Haemostaseology, Medical University of Vienna, 1090 Vienna, Austria.

: Postpartum haemorrhage (PPH) is a frequent complication of childbirth that is difficult to predict. Predelivery coagulation biomarkers may help to guide preventive strategies. Our objective was to evaluate the association of predelivery haemostatic biomarkers with non-severe PPH.

View Article and Find Full Text PDF
Article Synopsis
  • A study examined the mortality and factors affecting outcomes for 1,164 patients who underwent allogeneic hematopoietic stem-cell transplantation and were admitted to ICUs in France from 2015 to 2020.
  • The findings revealed a 90-day mortality rate of 48%, with higher risks linked to age, time from transplant to ICU admission, and the need for invasive treatments like vasopressors and mechanical ventilation.
  • Despite high mortality rates, many critically ill patients who received intensive care did survive their ICU stays, prompting the need for a careful evaluation of treatment options for those with multiple risk factors.
View Article and Find Full Text PDF

Epidemiology of childhood interstitial lung disease in France: the RespiRare cohort.

Thorax

August 2024

Paediatric Pulmonology Department and Reference Center for Rare Lung Diseases, RespiRare, Sorbonne University, AP-HP, Armand Trousseau Hospital, Paris, France

Article Synopsis
  • A study examined the prevalence and incidence of interstitial lung disease in children (chILD) in France, finding it affects 44 children per million in 2022 and has an incidence of 4.4 per million.
  • The research included data from 790 patients across 42 centers, noting that the median age for diagnosis was 3 months, with a significant portion having familial forms.
  • Management typically involved oxygen therapy and corticosteroids, with survival rates being 57.3% for children diagnosed before 2 years and 86% for those diagnosed between 2 and 18 years; the study highlights the need for improved international data collection and standardized practices.
View Article and Find Full Text PDF

Introduction: Acute exacerbation of chronic obstructive pulmonary disease (AECOPD) increases the risk of pulmonary embolism (PE). AECOPD and PE have similar symptoms which results in a high proportion of patients with AECOPD undergoing imaging to rule out PE. Finding predictors and explanatory factors of PE in AECOPD, such as purulence status, could help reduce the need for imaging.

View Article and Find Full Text PDF
Article Synopsis
  • - The study evaluated the effectiveness of CT venography (CTV) in diagnosing venous thromboembolism (VTE) in women during the postpartum period across 14 hospitals from 2016 to 2020.
  • - A total of 123 women were analyzed, revealing that CTV helped identify additional cases of VTE that CT pulmonary angiography (CTPA) missed, increasing the detection rate from 5.7% to 12.2%.
  • - While CTV improved VTE detection, it also resulted in higher radiation exposure compared to CTPA alone, which raises considerations for clinical practice when managing postpartum PE.
View Article and Find Full Text PDF

Objective: Tissue-resident memory cells (Trm) are a subset of T cells residing persistently and long-term within specific tissues that contribute to persistent inflammation and tissue damage. We characterised the phenotype and function of Trm and the role of CD103 in primary Sjogren's syndrome (pSS).

Methods: In both pSS and non-pSS sicca syndrome patients, we examined Trm frequency, cytokine production in salivary glands (SG) and peripheral blood (PB).

View Article and Find Full Text PDF

Comments on the tolerance of spores to disinfection with sodium hypochlorite disinfectant.

Microbiology (Reading)

May 2024

HydroSciences Montpellier, IRD, CNRS, Montpellier University, Hospital Hygiene and Infection Control Department, University Hospital of Montpellier, Montpellier, France.

View Article and Find Full Text PDF

Introduction : Early-onset pneumonia (EOP) occurs in around 50% of critically ill patients with out-of-hospital cardiac arrest (OHCA) and is associated with increased morbidity. Prompt diagnosis of EOP in these patients is difficult because of targeted temperature management and the postcardiac arrest syndrome. We hypothesized that an algorithm for proactive screening of EOP would improve patient outcomes.

View Article and Find Full Text PDF

An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.

JAMA Netw Open

April 2024

NeuroDiderot, Université Paris Cité, Institut National de la Santé Et de la Recherche Médicale, Unité Mixte de Recherche 1141, Paris, France.

Importance: Cerebral small vessel diseases (CSVDs) account for one-fifth of stroke cases. Numerous familial cases remain unresolved after routine screening of known CSVD genes.

Objective: To identify novel genes and mechanisms associated with familial CSVD.

View Article and Find Full Text PDF
Article Synopsis
  • Enterovirus D68 (EV-D68) infections can cause severe respiratory issues and acute flaccid myelitis, with a significant rise reported during the fall-winter season of 2021-2022 across Europe.
  • The study by the European Non-Polio Enterovirus Network (ENPEN) analyzed over 10,481 samples from 19 countries, identifying 1,004 as EV-D68, predominantly affecting young children, where 37.9% required hospitalization.
  • Additionally, genetic analyses uncovered two new B3-derived lineages without regional patterns, indicating a notable impact of the infections and the emergence of new virus strains.
View Article and Find Full Text PDF

Objective: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy.

Methods: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG.

View Article and Find Full Text PDF
Article Synopsis
  • The study focused on evaluating the correlation and concordance between different activity score indices for Polymyalgia Rheumatica (PMR), particularly including the C reactive protein polymyalgia rheumatica activity score (CRP-PMR-AS).
  • Data were analyzed from the SEMAPHORE trial, comparing the efficacy of tocilizumab to placebo in PMR patients while measuring various PMR-ASs at multiple visits.
  • Results showed an excellent correlation between the activity scores, indicating that in trials with drugs affecting CRP levels, these derived scores can be reliably used.
View Article and Find Full Text PDF