Institut de France

Background Alpha‐synuclein‐related neurodegeneration affects sleep figures, whether in the prodromal (rapid eye movement [REM] sleep behavior disorder, iRBD) or established (Parkinson's disease [PD] and multiple system atrophy [MSA]) stages. Objective To look for abnormal intrusions of REMs in non‐REM sleep in alpha‐synucleinopathies. Methods Clinical measures and polysomnography were collected from 554 participants with PD (N = 257), iRBD (N = 110), and MSA (N = 71) and 115 controls. Initially, the polysomnography was visually examined for REMs in N2 (presence and index). Subsequently, REMs were automatically detected in all wake and sleep stages, and thresholds discriminating between the disorders were sought. Results The REMs index in N2 (visually measured) was lower in controls than all patients groups. The REMs index in N2 (automatically measured) was lower in controls than in patients with PD and MSA, but not different from iRBD participants. The optimal cutoff of 4.6 REMs/h of N2 yielded a 77% specificity to discriminate controls from all neurodegenerative groups but sensitivity was 60%. The cutoff to discriminate MSA from PD participants had a low specificity (58%). The optimal cutoff of 2.1/h in iRBD patients had an 80% specificity for distinguishing them from controls. Conclusions Abnormal intrusion of REMs into non‐REM sleep distinguishes participants with alpha‐synucleinopathies from controls. This automated technique could be used to identify patients with neurodegenerative disorders in the large number of polysomnograms obtained for other purposes in the elderly. © 2025 International Parkinson and Movement Disorder Society.

Androgen receptor (AR), a member of the nuclear receptor superfamily controls prostate epithelial cell plasticity by repressing a panel of genes involved in epithelial-mesenchymal transition (EMT), including the human CDH2 gene encoding N-cadherin. At the opposite, pathological AR variants such as AR-V7 associated with prostate tumor progression upregulate those EMT genes. Here, focusing on the human CDH2 gene, we show that this duality between AR and AR-V7 relies on a potential human accelerated region present in the intron 1. This fastest-evolving region of the human genome is actually a variable number tandem repeat (VNTR) comprising 24 repetitions of a DNA sequence that englobes binding sites for steroid hormone receptors, recombination signal binding protein for immunoglobulin kappa j region (RBPJ) an effector of the Notch pathway, and zinc finger e-box binding homeobox 1 (ZEB1). Genomic DNA sequencing, multiple sequence alignment, data mining, as well as protein-DNA interaction and gene expression analyses indicate that this VNTR constitutes a potential transcriptional hub for different transcription factors to control human CDH2 expression. Also, our data suggest that prostate tumor cells may unlock an up to now unknown molecular mechanism associated with a fine-tuned control of human CDH2 gene expression. Graphical Abstract

Brain biopsies and cerebrospinal fluid collection are frequently used in neuroscience research and require precise execution. The objective of this chapter was to provide updated protocols for brain biopsies and other stereotactic procedures in adult mice. The described technique employing a stereotactic arm enables greater precision than freehand techniques. Stereotactic procedures in adult mice can be performed expeditiously and demonstrate high efficacy in reaching the target site. Efficacy is contingent upon the complexity of precisely targeting the biopsy site, owing to the diminutive size of the animal. This chapter describes an innovative, efficient, and reproducible surgical protocol for brain biopsy and cerebrospinal fluid collection in adult mice.

Stereotactic brain biopsy is one of the most commonly used procedures for obtaining brain tissues. This procedure is usually considered mini-invasive, quick, efficient, and safe, even if the results of the different studies are widely heterogeneous. Complications occurring after stereotactic brain biopsy are rare but have serious side effects. The mortality rate varies from 0% to 4%. The overall morbidity rate ranges from 1% to 13%. Most of the complications are revealed by the following symptoms: neurological impairment (transient or permanent), seizure, and unconsciousness. The symptomatic hemorrhage range varies from 0.9% to 8.6%, whereas in asymptomatic bleeding, the range may be as high as 59.8%. Corrective surgery is rare (<1%). The use of a grading scale can help to compare series from around the world. Future studies should establish a score that allows neurosurgeons to predict post-biopsy complications.

Outpatient neurosurgery has gained popularity, leading to enhanced patient satisfaction and cost savings. As a minimally invasive and time-efficient procedure, stereotactic brain biopsies are among the first cranial neurosurgical operations to be performed on an ambulatory basis. Most studies assessing the feasibility and safety of stereotactic brain biopsy in a day-case pathway have reported same-day discharge rates exceeding 90% and low complication rates. This chapter presents the argument that stereotactic brain biopsies can be safely performed in an outpatient setting in carefully selected patients. Widely adopting this process in neurosurgical centers does not compromise the quality of patient care and safety.

Stereotactic brain biopsy is one of the most frequently performed brain surgeries. This chapter aims to expose the latest cutting-edge and updated technologies and innovations available to neurosurgeons to safely perform stereotactic brain biopsy by minimizing the risks of complications and ensuring that the procedure is successful, leading to a histological diagnosis. Methods to improve preoperative and intraoperative workflows have also been examined. Intraoperative histology, fluorescence, and imaging techniques appear as smart tools to improve the diagnostic yield of biopsy. Constant innovations such as optical methods and augmented reality are also being made to increase patient safety. Robotics and integrated imaging techniques provide an enhanced intraoperative workflow. Many new trends are emerging, constantly improving patient care and safety, as well as surgical workflow. A parameter that must be considered is the cost-effectiveness of these devices and the possibility of using them on a daily basis. The decision to implement a new instrument in the surgical workflow should also be dependent on the number of procedures per year, the existing stereotactic equipment, and the experience of each center.

No specific recommendations exist for the placement or optimal timing of brain biopsies in patients with nonneoplastic neurological disorders. This chapter examines and discusses the diagnostic value, safety profile, and role of brain biopsy in adults with cryptogenic neurological disease. In highly selected patients with cryptogenic neurological diseases, brain biopsy has a high diagnostic yield (>70%) and low incidence of severe complications (<3%). Brain biopsy also appears to be useful in critically ill patients. It is crucial that the indication and feasibility of brain biopsy be carefully evaluated and discussed in a multidisciplinary setting, considering the benefit-risk balance for each individual patient.

Stereotactic biopsies, which are widely used in neurosurgery for tissue sampling and brain lesion diagnosis, are preferred for deep lesions because of their minimal invasiveness and precision, reducing the morbidity associated with open biopsies. This is especially relevant for brainstem tumors, which have been historically treated without histological confirmation due to concerns over morbidity and mortality. Recent advancements in the technique and understanding of brainstem tumor biology have altered treatment protocols. This chapter demonstrates that stereotactic biopsy is an effective diagnostic tool for brainstem lesions in both adults and children. Although it carries higher functional and fatal risks than biopsies of the brain or cerebellum, its safety profile remains acceptable. Thus, the benefit-risk ratio is favorable, but should be evaluated individually. Owing to the rarity of biopsy-amenable brainstem lesions, clinicians should confirm the biopsy indication through a specialized multidisciplinary group and refer patients to a neurosurgical team experienced in brainstem biopsies.

Brain biopsies are neurosurgical procedures that involve the sampling of a small portion of brain tissue for diagnostic purposes. These procedures are crucial for the diagnosis of neurological conditions including tumors, infections, inflammatory diseases, and neurodegenerative disorders. There are two main types of brain biopsy techniques: stereotactic and open. Stereotactic biopsies are best for targeting deep brain structures, small lesions, or areas near critical brain structures. These can be performed using stereotactic frames, neuronavigation assistance, or robotic assistance. Open biopsies are preferentially used when the lesion is superficial, leptomeningeal sampling is needed, or a larger sample size is required for definitive diagnosis. This chapter focuses on non-robotized brain biopsy techniques and outlines their technical aspects, key features, and applications.

Histological and microbiological diagnoses remain crucial for management of skull, skull base, neck, and cervical spine lesions. Percutaneous biopsies and fine-needle aspiration have become popular in the past decades for many organs because they allow minimally invasive, safe, and accurate tissue sampling. Percutaneous biopsies of head and neck lesions present unique challenges, mainly related to the vicinity of critical structures including vasculature and nerves as well as complex bone anatomy of the region. This chapter presents the tools routinely used to perform such biopsies, from the imaging devices to the biopsy needles. Various approaches are described and illustrated for reaching a majority of lesions, from the most superficial to the deepest. An emphasis is placed on the practical aspects such as preprocedural planning, anesthesia, preferred image guidance, and patient positioning. Finally, potential complications of percutaneous biopsies, albeit rare, and their management are covered.

Background Quantitative studies evaluating the psychological effects of patient-partner (PP) support for breast cancer survivors are needed. This study aimed to assess the impact of patient-partner support on emotional distress, perceived social support, perceived control, and coping in breast cancer survivors. Methods A cross-sectional comparative study was conducted in 2021, using the LimeSurvey online software, at the Institut du Sein d’Aquitaine, which employed a trained patient-partner to provide individual support to BC survivors. The Hospital Anxiety and Depression Scale, the Questionnaire on Social Support in Cancer, the Cancer Locus of Control Scale, and the Ways of Coping Checklist were used in this study. ANOVAs and MANCOVA were performed for statistical analysis. Results In total, 118 breast cancer survivors were included in the study (mean age = 56.21; SD = 11.38), of whom 49 (41.5%) had benefited from patient-partner support. In the multivariate analysis, the supported group reported significantly higher levels of emotional support (β = 5.81; p < 0.01) and used more social support-seeking coping strategies (β = 2.50; p < 0.05) compared to those without support. However, they showed greater internal causal attribution (β = 2.05; p < 0.05). Conclusion In this study, patient-partner support has a relatively beneficial effect on transactional variables that facilitate adjustment to breast cancer. This support should be complemented by merging PP assistance with psychological support. Further randomized longitudinal and prospective studies are needed for in-depth explorations.

Most contemporary decision-making research focuses on choices between only two alternative options, in spite of the fact that most real-world decisions involve more than two options. Beyond this practical point, multi-option decisions are also important from a theoretical perspective. Experimental and computational studies have demonstrated that the composition of a set of choice options has predictable effects on choice outcomes. Specifically, with more options available to choose from, responses are slower and more stochastic. This effect is amplified when the values of the options (including the worst option in the set) are more similar to each other. In this study, we provide further evidence of these known effects. We also provide evidence that metacognitive factors such as feelings of confidence in the response or mental effort exertion during deliberation show similar effects as the cognitive factors (consistency between choices and value estimates, response speed). Finally, we provide novel evidence that value estimates are refined during deliberation for all options in choice triplets, similar to what has previously been show for choice pairs.

This article leverages big data to contribute to acculturation research, tapping on population behavior to measure the proximity of an ethnic minority to majority and homeland orientations. Our data consists of anonymized information from the Facebook Advertising Platform Interface about active users who speak Italian on the platform and reside in the 16 countries with the largest Italian-speaking communities worldwide. We conduct two main analyses. First, by calibrating the volume of Italian-speaking Facebook users with the penetration rate of the platform by country, age and gender, we estimate that the Italian diaspora amounts to 5.66–5.95 million people globally (aged 18 or more). Second, we record the level of interest of Italian speakers in given topics covered by Facebook (called ‘Facebook interests’) and measure its (dis)similarity with the corresponding level among users in the country of residence and users in Italy as an indicator of Berry’s types of acculturation (integration, assimilation, separation, or marginalization). From our data, no overarching acculturation model prevails across the board. However, variability in the diaspora is lower when it comes to typical manifestations of ethnic heritage, for which the interests of Italian speakers are higher than among locals but lower than among homeland Italians. On the basis of such dissimilarities in interests, the Italian diaspora is segmented into three clusters, reflecting geographic and cultural areas: Italians in Latin America, the Anglosphere, and continental Europe.

In this paper, the authors report a hidden administration of mifepristone, an antiprogestogen used in abortion procedure, by the boyfriend of a pregnant woman. After drinking an iced tea, the woman experienced pelvic cramps and then expulsed products of conception. Due to conflicts in the couple, she suspected a surreptitious administration of an abortion medicine and reported the fact to the police. Urine was collected 3 days after the event, while a strand of head hair was collected 1 month later. Urine and hair samples were tested for mifepristone using a liquid chromatography system coupled to tandem mass spectrometry. The limits of detection and quantification were 0.05 and 0.1 ng/mL for urine and 0.5 and 1 pg/mg for hair, respectively. Urine and the hair segment corresponding to the period of the event were positive for mifepristone at 0.4 ng/mL and 1.4 pg/mg, respectively. The presence of mifepristone in both biological specimens demonstrates that the woman was exposed to the drug at the period of the event. The findings of this case make a valuable contribution to the literature, addressing an important gap regarding the concentrations found in biological matrices. There is a few data available in the literature, and these results help to expand knowledge on the subject.

The discovery of resting-state networks shifted the focus from the role of local regions in cognitive tasks to the ongoing spontaneous dynamics in global networks. Recently, efforts have been invested to reduce the complexity of brain activity recordings through the application of nonlinear dimensionality reduction algorithms. Here, we investigate how the interaction between these networks emerges as an organising principle in human cognition. We combine deep variational autoencoders with computational modelling to construct a dynamical model of brain networks fitted to the whole-brain dynamics measured with functional magnetic resonance imaging (fMRI). Crucially, this allows us to infer the interaction between these networks in resting state and seven different cognitive tasks by determining the effective functional connectivity between networks. We found a high flexible reconfiguration of task-driven network interaction patterns and we demonstrate that this reconfiguration can be used to classify different cognitive tasks. Importantly, compared with using all the nodes in a parcellation, we obtain better results by modelling the dynamics of interacting networks in both model and classification performance. These findings show the key causal role of manifolds as a fundamental organising principle of brain function, providing evidence that interacting networks are the computational engines’ brain during cognitive tasks.

Objective To assess the intraobserver reliability of Diastasis Recti Abdominis (DRA) measurement by ultrasonography during four specific abdominopelvic exercises, evaluating interrecti distance, Linea Alba (LA) thickness, and distortion index in parous women. Methods Fifty‐four parous women were assessed using ultrasound imaging for the LA. Four exercises were evaluated: crunch, abdominal drawing‐in maneuver, pelvic floor muscle contraction, and one exercise based on the de Gasquet Method. Each exercise was performed three times. The ultrasound probe was placed 3 cm above and 2 cm below the umbilicus. Interrecti distance (IRD), distortion index, and LA thickness were measured and analyzed using ImageJ software by independent researchers. Intraobserver reliability was evaluated using the intraclass correlation coefficient (ICC) with a 95% confidence interval. Results ICC values for the IRD ranged from 0.84 to 0.99 for the four exercises. The distortion index showed moderate to high reliability (ICC: 0.77–0.98), while LA thickness also demonstrated moderate to high reliability (ICC: 0.75–0.98). Conclusion The results demonstrate the reliability of ultrasound in measuring key parameters, including LA thickness, distortion, and IRD in women with DRA during various exercises. As a non‐invasive tool, it supports evidence‐based interventions in postpartum recovery and clinical practice.

Background The randomized, double-blind UNIRAD trial evaluating the addition of 2 years of everolimus to endocrine therapy in patients with high-risk, early luminal breast cancer failed to demonstrate a benefit. We report the subgroup analyses. Patients and methods We randomly assigned 1278 patients in a 1 : 1 ratio to receive 2 years of placebo or everolimus, added to endocrine therapy for up to 4 years after initiation. Randomization was stratified by endocrine therapy agent, prior adjuvant versus neoadjuvant therapy, progesterone receptor expression, and lymph node involvement. Subgroup analyses by each stratification factor were pre-specified. Post hoc analyses were carried out according to menopausal status and age. Treatment adherence was also analyzed. Results We observed a limited trend toward more favorable prognostic features in tamoxifen-treated patients, with more frequent estrogen receptor-positive/progesterone receptor-positive tumors (88.5% versus 84.1%, P = 0.026) and less frequent pN2-positive status (39.8% versus 46.0%, P = 0.032). In premenopausal women, we observed a numerical benefit of everolimus: 3-year disease-free survival was 86% in the placebo group and 90% in the everolimus group (hazard ratio 0.76, 95% confidence interval 0.43-1.34). In premenopausal patients treated with tamoxifen (n = 153; 12.3%), we observed an even stronger trend in favor of everolimus as 3-year DFS was 84% in the placebo group and 91% in the everolimus group (hazard ratio 0.54, 95% confidence interval 0.28-1.02). Early discontinuation of either everolimus or placebo was less frequent in the tamoxifen group than in the aromatase inhibitor group: 48.0% versus 56.9% (P = 0.028). Conclusions The present post hoc analyses generate hypotheses regarding the interaction between menopausal status, tamoxifen, and everolimus in patients with high-risk, ER-positive, human epidermal growth factor receptor type 2-negative early breast cancer. They suggest that tamoxifen alone is an underpowered endocrine treatment in high-risk premenopausal patients.

Objective: The study aimed to identify Colombian adults' positions in cases in which a counsellor can and should not do so in a situation where parents who are uncomfortable with all issues related to sexuality ask their daughter's school counsellor to help answer her questions about these topics. Materials and methods: A convenience sample of 180 adults, including 19 school counsellors, was presented with a set of 24 vignettes created by orthogonally crossing three factors: (a) the context of the request (e.g., parents ask the educator to limit sexual information to purely biological aspects), (b) whether the adolescent requests additional information, and (c) the type of information provided by the educator (e.g., comprehensive information, including abortion). Results: A cluster analysis of participants' appropriateness judgments regarding counsellor’s behavior revealed four qualitatively different positions: Depends on adolescent’s request (5%), Completeness of information (26%), Biological information is insufficient (31%), and at educator's discretion (16%). In addition, 18% (most religious) expressed no discernible position. Conclusion: The majority of participants (57%) thus expressed the view that the most appropriate behavior on the part of the counselor was to provide the most comprehensive information possible, and certainly not to focus solely on the biological aspects of sex education during counseling. This view was largely independent of contextual elements such as the limits to communication set by the parents or even the limits to communication set by the adolescent.