Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopment.

Hereditary spastic paraplegia (HSP) encompasses a group of rare genetic diseases primarily affecting motor neurons. Among these, spastic paraplegia type 11 (SPG11) represents a complex form of HSP caused by deleterious variants in the SPG11 gene, which encodes the spatacsin protein. Previous studies have described several potential roles for spatacsin, including its involvement in lysosome and autophagy mechanisms, neuronal and neurites development or mitochondria function.

Impacts of immersive 3D videos on students' surgical learning compared to 2D videos: a randomized controlled trial.

Background: Unlike other medical specialties, surgery is primarily learned through apprenticeship, by observing surgeons in action during operations. However, the increasing number of medical students and work-hour restrictions limit opportunities for learning in the operating room (OR). These circumstances call for novel technologies, such as immersive video.

How to facilitate the wider use of pharmacogenetic tests?

4P medicine (personalized, preventive, predictive, and participatory) is experiencing a remarkable rise, and pharmacogenetics is an essential part of it. However, several obstacles are hindering its deployment. This round table brought together a group of experts to take stock of the situation, reflecting on ways to facilitate the prescription of these tests and the dissemination of the results on a national scale.

Microsporidiosis in Patients with Autoimmune Diseases Undergoing Monoclonal Antibody Associated Therapy.

We present Enterocytozoon bieneusi infection in four patients with autoimmune diseases undergoing prolonged monoclonal antibody therapies. Two patients suffered from inflammatory bowel disease and received anti-TNF therapies, whereas two other patients suffered from systemic lupus erythematosus with renal involvement and received anti-CD20 or anti-BLyS protein therapies. Three out of four patients consulted for diarrhea with abdominal pain without intestinal inflammation or bleeding at the time of sampling.

T cell malignancies after CAR T cell therapy in the DESCAR-T registry.

The risk of T cell malignancies after chimeric antigen receptor (CAR) T cell therapy is a concern, although the true incidence remains unclear. Here we analyzed the DESCAR-T registry database, encompassing all pediatric and adult patients with hematologic malignancies who received CAR T cell therapy in France since 1 July 2018. Of the 3,066 patients included (2,536 B cell lymphoma, 162 B cell acute lymphoblastic leukemia (ALL) and 368 multiple myeloma), 1,680 (54.

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

The mutational landscape of TP53, a tumor suppressor mutated in about half of all cancers, includes over 2,000 known missense mutations. To fully leverage TP53 mutation status for personalized medicine, a thorough understanding of the functional diversity of these mutations is essential. We conducted a deep mutational scan using saturation genome editing with CRISPR-mediated homology-directed repair to engineer 9,225 TP53 variants in cancer cells.

Incidence and impact of other malignancies after immunochemotherapy by fludarabine, cyclophosphamide, and rituximab as frontline treatment for chronic lymphocytic leukemia: A single-center retrospective study.

Individuals with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL) have a high risk of developing other malignancies (OMs). The development of OMs may be associated with the advanced age of CLL/SLL patients, presence of a tumor-promoting microenvironment, immune alterations inherent to CLL/SLL, or chemotherapy. Importantly, the occurrence of OMs following frontline fludarabine, cyclophosphamide and rituximab (FCR) treatment is associated with a reduction in the overall survival (OS).

Body composition is associated with changes in health-related quality of life in patients with knee and/or hip osteoarthritis.

Objective: The objective of this study was to analyse the association between body composition and changes in health-related quality of life (HRQoL) of patients followed for hip and knee osteoarthritis (OA).

Methods: Longitudinal data from the Knee and Hip OsteoArthritis Long-term Assessments (KHOALA) cohort, a multicentre cohort of 878 patients with symptomatic knee and/or hip OA, were used. The main outcome criteria were changes in patient-reported outcomes measures, the Study Short Form-36 (physical functioning, pain, mental health and vitality) and the OsteoArthritis Knee and Hip Quality Of Life (OAKHQOL)(physical activity, pain and mental health).

Cerebral oxygen saturation in cirrhotic patients with gastro-intestinal bleeding, a near infrared spectroscopy study.

Near Infrared Spectroscopy (NIRS) is a non-invasive optical technique allowing a continuous measurement of brain's hemoglobin (Hb) saturation in oxygen (rSO2). It is a marker of cerebral insult and rSO2 < 50% is associated with increased neurological impairment. Cirrhotic patients with gastrointestinal bleeding (GIB) often develop hepatic encephalopathy (HE).

Transjugular Intrahepatic Portosystemic Shunt (TIPS): A Bridge to Bariatric Surgery in Morbidly Obese Patients with Cirrhosis and Clinically Significant Portal Hypertension.

Background: In cirrhotic patients, portal hypertension increases mortality after surgery. We evaluated the impact of pre-operative transjugular intrahepatic portosystemic shunt (TIPS) on the outcomes of bariatric surgery in cirrhosis.

Methods: Multicentric retrospective cohort.

Brain functional imaging contributions in osteoarthritis-related pain: A viewpoint.

Objective: Neuroimaging investigations are critical to provide a more direct assessment of brain disturbances associated with osteoarthritis (OA)-related pain, and to better understand its pathophysiology to develop new treatment strategies. This viewpoint aims to summarize the importance of the brain in OA pain.

Method: A European working group on pain in osteoarthritis GO-PAIN (Going Inside Osteoarthritis-related Pain Phenotyping) has been created to work on a global assessment of the OA-related pain.

Neuroendocrine tumor discovered in a teenager following asthma misdiagnosis.

Although relatively rare, neuroendocrine tumors (NETs) represent the most common type of endobronchial tumors in pediatric patients. Their clinical presentation lacks specificity, often leading to delayed diagnosis due to limited clinical suspicion. Mainly classified as low-grade malignant tumors (grade 1), they typically demonstrate favorable outcomes following surgical removal.

[A 2024 inventory in oncology news].

The editorial board of the Bulletin du cancer has compiled a summary of the news from 2024 in oncology, based on the main results presented at international congresses or published over the past year. After a year marked by the success of the Olympic Games, the selection of data is presented and discussed in podiums of three main results by topic. Emphasis is placed on studies that have an immediate impact on practice and on data that raise important questions for the year 2025.

Improving the generalizability of white blood cell classification with few-shot domain adaptation.

The morphological classification of nucleated blood cells is fundamental for the diagnosis of hematological diseases. Many Deep Learning algorithms have been implemented to automatize this classification task, but most of the time they fail to classify images coming from different sources. This is known as "domain shift".