Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

Identification of progressive pulmonary fibrosis: consensus findings from a modified Delphi study.

Background: We sought consensus among practising respiratory physicians on the prediction, identification and monitoring of progression in patients with fibrosing interstitial lung disease (ILD) using a modified Delphi process.

Methods: Following a literature review, statements on the prediction, identification and monitoring of progression of ILD were developed by a panel of physicians with specialist expertise. Practising respiratory physicians were sent a survey asking them to indicate their level of agreement with these statements on a binary scale or 7-point Likert scale (- 3 to 3), or to select answers from a list.

EGFR status assessment using reflex testing targeted next-generation sequencing for resected non-squamous non-small cell lung cancer.

EGFR status assessment is mandatory for adjuvant decision-making of resected stage IB-IIIA non-squamous non-small cell lung cancer (NS-NSCLC). It is questionable whether single-gene RT-PCR versus next-generation sequencing (NGS) should be used for this evaluation. Moreover, co-occurring mutations have an impact on tumor behavior and may influence future therapeutic decision-making.

Epidemiology of metastatic lung cancer in France between 2013 and 2021: Observational study using the French claims database.

Introduction: Treatment landscape in metastatic lung cancer has progressed quickly over the last decade, mainly due to immunotherapies and targeted therapies. This study aimed to describe change in epidemiological data of patients with metastatic lung cancer.

Methods: A cohort of patients identified between 2013 and 2021 with lung cancer and a marker of metastases (ICD-10 code or reimbursement for Bevacizumab or Pemetrexed) was built from the French claims database.

Anxiety and Depression Features in Laryngopharyngeal Reflux Disease: A Systematic Review.

Objective: To investigate the anxiety and depression features in laryngopharyngeal reflux disease (LPRD).

Methods: A laryngologist and librarian conducted a PubMed, Scopus, and Cochrane Library systematic review related to anxiety, depression, and mental health in LPRD through the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statements.

Results: Of the 96 identified studies, 22 publications met the inclusion criteria, accounting for 2162 patients with suspected LPRD (n = 1607), gastroesophageal reflux disease (GERD; n = 423), both LPRD and GERD (n = 132), and 926 healthy/asymptomatic individuals.

Postcancer rehabilitation: multidisciplinary exercise - programme organisation and feasibility.

Background: Although the benefit of supportive care in the postcancer period is now well demonstrated, its implementation in the patient journey remains challenging. This article describes the development, since 2015 and in routine care, of supportive postcancer care comprising a multidisciplinary rehabilitation programme (MRP) based on exercise for patients with early breast cancer.

Methods: As part of quality control, we reviewed all patient files since the programme was implemented.

Effects of intravascular administration of mesenchymal stromal cells derived from Wharton's Jelly of the umbilical cord on systemic immunomodulation and neuroinflammation after traumatic brain injury (TRAUMACELL): study protocol for a multicentre randomised controlled trial.

Introduction: Traumatic brain injury (TBI) is one of the leading causes of death and disability worldwide. Treatments for TBI patients are limited and none has been shown to provide prolonged and long-term neuroprotective or neurorestorative effects. A growing body of evidence suggests a link between TBI-induced neuro-inflammation and neurodegenerative post-traumatic disorders.

Identification of a T2-hyperintense Perivascular Space in Brain Arteriovenous Malformations.

Background/aim: Brain arteriovenous malformations (AVMs) are vascular malformations characterized by dysmorphic, aberrant vasculature. During previous surgeries of compact nidus brain AVMs (representing the majority of cases), we have observed a "shiny" plane between nidal and perinidal AVM vessels and the surrounding grey and white matter and hypothesized that preoperative neuroimaging of brain AVMs may show a neuroradiological correlate of these intraoperative observations.

Patients And Methods: We retrospectively reviewed and analyzed multiplanar and multisequence 3-Tesla magnetic resonance (3T MR) imaging in five consecutive brain AVMs with special attention on imaging characteristics of the brain-AVM interface, i.

Prevention of Stroke in Intracerebral Haemorrhage Survivors with Atrial Fibrillation: Rationale and Design for PRESTIGE-AF Trial.

Adequate secondary prevention in survivors of intracerebral hemorrhage (ICH) who also have atrial fibrillation (AF) is a long-standing clinical dilemma because these patients are at increased risk of recurrent ICH as well as of ischemic stroke. The efficacy and safety of oral anticoagulation, the standard preventive medication for ischemic stroke patients with AF, in ICH patients with AF are uncertain. PRESTIGE-AF is an international, phase 3b, multi-center, randomized, open, blinded end-point assessment (PROBE) clinical trial that compared the efficacy and safety of direct oral anticoagulants (DOACs) with no DOAC (either no antithrombotic treatment or any antiplatelet drug).

Ultrasound, pulsed electric fields, and high-voltage electrical discharges assisted extraction of cellulose and lignin from walnut shells.

Extracting The extraction of cellulose and lignin from biomass is essential for the development of sustainable bio-based materials. This study examines the effects of physical pretreatment techniques-ultrasound (US), pulsed electric fields (PEF), and high-voltage electrical discharges (HVED)-on the efficiency of alkali treatment for cellulose and lignin extraction from walnut shells. The primary objective was to enhance extraction yields and improve extract quality while evaluating the effectiveness of these methods.

Hip-lumbar mobility loss affects quality of life in patients undergoing both lumbar fusion and total hip arthroplasty.

Aims: Overall sagittal flexion is restricted in patients who have undergone both lumbar fusion and total hip arthroplasty (THA). However, it is not evident to what extent this movement is restricted in these patients and how this influences quality of life (QoL). The purpose of this study was to determine the extent to which hip-lumbar mobility is decreased in these patients, and how this affects their QoL score.

Effect of a high-impact exercise program on hip strength indices in a group of obese women after bariatric surgery.

The purpose of this study was to explore the influence of a 12-month high-impact physical training program (descending stairs) on bone health in a group of young obese women who had undergone bariatric surgery (type sleeve). Fifty-two premenopausal women with a body mass index (BMI) > 35 kg/m (range: 35.06-60.

Understanding Parkinson's: The microbiome and machine learning approach.

Objective: Given that Parkinson's disease is a progressive disorder, with symptoms that worsen over time, our goal is to enhance the diagnosis of Parkinson's disease by utilizing machine learning techniques and microbiome analysis. The primary objective is to identify specific microbiome signatures that can reproducibly differentiate patients with Parkinson's disease from healthy controls.

Methods: We used four Parkinson-related datasets from the NCBI repository, focusing on stool samples.

Predictors of conversion to cesarean section in a French cohort of 236 class III (body mass index of 40 or more) obese women attempting vaginal delivery: A restrospective multicentric study.

Background: Due to the global growth of its prevalence and its impact on patient health, obesity is considered a near-epidemic condition by the World Health Organization (WHO). Its overall prevalence has now reached 17 % in France. The impact of obesity is also a concern for pregnant women, due to the risk of maternal and fetal complications.

Deployment of Industry 4.0 technologies to achieve a circular economy in agri-food supply chains: A thorough analysis of enablers.

With the global population projected to reach 9.7 billion by 2050, pressure on global natural resources will increase by 50-90%, exceeding planetary boundaries. Industry 4.

Professional-patient discrepancies in assessing lung cancer radiotherapy symptoms: An international multicentre study.

Background And Purpose: We investigate discrepancies in the assessment of treatment-related symptoms in lung cancer between healthcare professionals and patients, and factors contributing to these discrepancies.

Materials And Methods: Data from 515 participants in the REQUITE study were analysed. Five symptoms (cough, dyspnoea, bronchopulmonary haemorrhage, chest wall pain, dysphagia) were evaluated both before and after radiotherapy.

Subtypes of brain change in aging and their associations with cognition and Alzheimer's disease biomarkers.

Structural brain changes underlie cognitive changes and interindividual variability in cognition in older age. By using structural MRI data-driven clustering, we aimed to identify subgroups of cognitively unimpaired older adults based on brain change patterns and assess how changes in cortical thickness, surface area, and subcortical volume relate to cognitive change. We tested (1) which brain structural changes predict cognitive change (2) whether these are associated with core cerebrospinal fluid (CSF) Alzheimer's disease biomarkers, and (3) the degree of overlap between clusters derived from different structural modalities in 1899 cognitively healthy older adults followed up to 16 years.

Monitoring HIV, HCV and HBV among people who use drugs in France. A reflective feed-back on a 25-year experiment based on mixed methods. The ANRS-Coquelicot survey.

The ANRS-Coquelicot survey has been carried out in France for 25 years, to monitor trends in infectious diseases (HIV and hepatitis B and C) among people who use drugs. In this article, we propose to open the black box of this monitoring experience, by describing and analysing some methodological, ethical and political issues involved in this type of survey. The ANRS-Coquelicot survey has carried out on five occasions in France (from 2002 to 2024) in several cities (from 1 to 27) among people who use drugs recruited in a large diversity of services including drug treatment centres, harm reduction facilities, residential services as well as outreach teams.

Role of CT myelography in the diagnosis and management of spontaneous intracranial hypotension.

Introduction: Spontaneous intracranial hypotension (SIH) is a secondary cause of headache. Its pathophysiology is complex, and relies mainly on the notion of a localized leak, and thus a loss of cerebrospinal fluid (CSF) in the spinal region. SIH is little known to the medical profession, for which CT myelography is a technique on the rise, allowing to identify and treat the leak using a blood-patch or a fibrin sealant.

Silent brain infarctions in patients with rheumatic mitral stenosis.

Background: Silent brain infarctions (SBI) are commonly detected in brain imaging. The association of SBI with rheumatic mitral stenosis (MS) is not clearly relevant. Based on magnetic resonance imaging, we aimed to describe the prevalence of SBI in patients with rheumatic MS and the cardiac abnormalities related to their occurrence.

A Prospective Non-interventional Real-World Study of cabozantinib in Pretreated Patients With Advanced Renal Cell Carcinoma Refractory to Vascular Endothelial Growth Factor-Targeted Therapy (CASSIOPE).

Background: There is a lack of published data on real-world cabozantinib use in patients with advanced renal cell carcinoma after prior vascular endothelial growth factor (VEGF)-targeted therapy.

Methods: CASSIOPE was a real-world, prospective, multicenter, non-interventional postauthorization safety study of cabozantinib in adult patients with advanced renal cell carcinoma in Europe following prior VEGF-targeted treatment (NCT03419572). Endpoints included cabozantinib utilization (dose modifications due to adverse events [AEs; primary endpoint], dose, dose modifications, and treatment duration), safety, effectiveness (progression-free survival [PFS], overall survival [OS], best overall response [BOR]), and healthcare resource utilization.

Comparison of DIEP and PAP free flaps for breast reconstruction in the context of breast cancer: A retrospective study of 677 patients over 10 years.

Background: Profunda artery perforator (PAP) flap following cancer surgery has emerged as a relevant alternative for breast reconstruction but is mainly used in cases where the deep inferior epigastric perforator (DIEP) flap cannot be performed. The aim of this study was to compare the PAP and DIEP flaps' surgical and aesthetics outcomes in breast reconstruction.

Methods: Women who underwent breast reconstruction by DIEP or PAP flap at the Plastic Surgery Department of Georges Pompidou European University Hospital, Paris, France, between January 2012 and December 2020 were included.