A Novel Statistical Method for Unmasking Sex-Specific Genomics Signatures in Complex Traits.

Genotype-phenotype association studies have advanced our understanding of complex traits but often overlook sex-specific genetic signals. The growing awareness of sex-specific influences on human traits and diseases necessitates tailored statistical methodologies to dissect these genetic intricacies. Rare genetic variants play a significant role in disease development, often exhibiting stronger per-allele effects than common variants.

Multimodal fluorescence-optoacoustic imaging of the near-infrared calcium ion indicator NIR-GECO2G.

Measuring whole-brain distributed functional activity is an important unmet need in neuroscience, requiring high temporal resolution and cellular specificity across large volumes. Functional optoacoustic neuro-tomography (FONT) with genetically encoded calcium ion indicators is a promising approach towards this goal. However, it has not yet been applied in the near-infrared (NIR) range that provides deep penetration and low vascular background optimal for neuroimaging.

Virus-mediated delivery of single-chain antibody targeting TDP-43 protects against neuropathology, cognitive impairment and motor deficit caused by chronic cerebral hypoperfusion.

Chronic cerebral hypoperfusion induced by permanent unilateral common carotid artery occlusion in mice was recently found to induce an age-dependent formation of insoluble cytoplasmic TDP-43 aggregates reminiscent of pathological changes found in human vascular dementia. In this model, the gradual deregulation of TDP-43 homeostasis in cortical neurons was associated with marked cognitive and motor deficits. To target the TDP-43-mediated toxicity in this model, we generated an adeno-associated virus vector encoding a single-chain antibody against TDP-43, called scFv-E6, designed for pan-neuronal transduction following intravenous administration.

Human Auditory-Motor Networks Show Frequency-Specific Phase-Based Coupling in Resting-State MEG.

Perception and production of music and speech rely on auditory-motor coupling, a mechanism which has been linked to temporally precise oscillatory coupling between auditory and motor regions of the human brain, particularly in the beta frequency band. Recently, brain imaging studies using magnetoencephalography (MEG) have also shown that accurate auditory temporal predictions specifically depend on phase coherence between auditory and motor cortical regions. However, it is not yet clear whether this tight oscillatory phase coupling is an intrinsic feature of the auditory-motor loop, or whether it is only elicited by task demands.

Development of sensorimotor responses in larval zebrafish: A comparison between wild-type and GCaMP6s transgenic line.

During early development, zebrafish larvae exhibit stereotypical behaviors, which rapidly become more complex. Thus, generating mutant transgenic lines that maintain transparency throughout their larval stage and that can be used to record brain activity has offered strategic opportunities to investigate the underlying neural correlates of behavior establishment. However, few studies have documented the sensorimotor profile of these lines during larval development.

Effectiveness of sensorimotor therapy on action naming in post-stroke aphasia: a systematic review.

Purpose: Aphasia, a language disorder caused by brain injury, often results in action naming difficulties. This systematic review reports and analyzes the studies on speech-therapy interventions that use sensorimotor strategies for treating isolated verbs in individuals with chronic aphasia.

Methods: Following PRISMA guidelines, the MEDLINE, CINAHL and PsycInfo databases were searched on January 18, 2024, for articles published in English and French between 1996 and 2024.

Pupillary response to blue light as a biomarker of seasonal pattern in Major Depressive Episode: A clinical study using pupillometry.

Depressive disorders are characterized by disturbances in light signal processing. More specifically, an alteration of the melanopsin response is suggested. The post-illumination pupillary response (PIPR) to blue light (post-blue PIPR) is increasingly used as a marker of the activity of intrinsically photosensitive melanopsin ganglion cells (ipRGCs).

Task-specific temporal prediction mechanisms revealed by motor and electroencephalographic indicators.

Time prediction is pervasive, and it is unclear whether it is supra-modal or task-specific. This study aimed to investigate the role of motor temporal prediction in preparing to stop a movement following a sensory stimulus. Participants performed a straight-line movement with their finger until a target signal, which occurred after a short or long foreperiod.

Mathematical properties of pump-leak-cotransport models.

Models of ordinary differential equations are often used to describe the electrical, ionic and volumetric responses of cells to external stimuli. Although these cellular models are often solved numerically, rigorous evidence regarding their steady state solutions is scarce. In this work, we provide a formalism defining the conditions ensuring the existence and uniqueness of a steady-state solution in a large class of models including leak channels, a pump and cotransporters.

Apomorphine for prolonged disorders of consciousness: a multimodal open-label study.

Background: Apomorphine is a dopaminergic candidate therapy to improve recovery in patients with prolonged disorders of consciousness (PDoC). Behavioural improvements were previously described in non-controlled case series, but its efficacy and neural mechanisms remain largely unknown. This open-label controlled study using multimodal outcome measures investigates the action of apomorphine in severely brain-injured patients.

Unravelling impacts of the insecticide deltamethrin on neuronal sodium channels in honey bees: Molecular insights and behavioural outcomes.

The current risk assessment framework for insecticides suffers from certain shortcomings in adequately addressing the effects of low doses on off-target species. To remedy this gap, a combination of behavioural assays and in vitro cellular approaches are required to refine the precision of toxicity assessment. The domestic honey bee has long been standing as an emblematic pollinator in ecotoxicology, and once more, it provides us with a practical testing model for this purpose.

The Contribution of the Face-Name Associative Recognition Test to Objectifying the Impairment of Associative Memory in Subjective Cognitive Decline.

Objective: Subjective cognitive decline (SCD) is defined as a self-reported perception of cognitive decline that occurs without clear objective signs of cognitive impairment. There is still uncertainty in the literature about the reliability of SCD as an accurate indicator of the early stages of major neurocognitive disorders. Furthermore, objectifying cognitive impairment in SCD is difficult, mainly due to the insensitivity of the assessment instruments.

Exploring Electrophysiological Responses to Hypnosis in Patients with Fibromyalgia.

Hypnosis shows great potential for managing patients suffering from fibromyalgia and chronic pain. Several studies have highlighted its efficacy in improving pain, quality of life, and reducing psychological distress. Despite its known feasibility and efficacy, the mechanisms of action remain poorly understood.

Exploring end-of-life decision-making in China for disorders of consciousness.

Objectives: We aim to investigate the ethical attitudes of the Chinese population toward withdrawal of life-sustaining treatment (WLST) in disorders of consciousness (DoC) patients.

Methods: A self-administered questionnaire concerning WLST was distributed to Chinese medical professionals and non-medical participants between February and July 2022. Statistical analysis included chi-square tests and logistic regressions.

Artificial intelligence and machine learning in disorders of consciousness.

Purpose Of Review: As artificial intelligence and machine learning technologies continue to develop, they are being increasingly used to improve the scientific understanding and clinical care of patients with severe disorders of consciousness following acquired brain damage. We here review recent studies that utilized these techniques to reduce the diagnostic and prognostic uncertainty in disorders of consciousness, and to better characterize patients' response to novel therapeutic interventions.

Recent Findings: Most papers have focused on differentiating between unresponsive wakefulness syndrome and minimally conscious state, utilizing artificial intelligence to better analyze functional neuroimaging and electroencephalography data.

Brain state identification and neuromodulation to promote recovery of consciousness.

Experimental and clinical studies of consciousness identify brain states (i.e. quasi-stable functional cerebral organization) in a non-systematic manner and largely independent of the research into brain state modulation.

Generation of a control induced pluripotent stem cell line (CBRCULi014-A) derived from the lymphoblastoid cells of a pediatric individual.

Lymphoblastoid cell lines serve as a readily and continuous resource for generating induced pluripotent stem cells (iPSCs), enabling the modeling of various genetic disorders in vitro. When investigating congenital and infantile diseases, age-matched controls derived from pediatric individuals are typically necessary, yet they may be scarce or difficult to obtain. Here, the Sendai virus system was employed to introduce reprogramming factors into lymphoblastoid cells derived from an apparently healthy 4-year-old female.

Clinical and ethical challenges in decision-making for patients with disorders of consciousness and locked-in syndrome from Chinese neurologists' perspectives.

Background: The diagnosis of and life-sustaining treatment (LST) for patients with disorders of consciousness (DoC) and locked-in syndrome (LIS) have been the subject of intense debate.

Objective: We aim to investigate the application of diagnostic knowledge, opinions about the administration of LST, and ethical challenges related to DoC and LIS.

Design: A cross-sectional study.

Involvement of muscarinic acetylcholine receptor-mediated cholinergic neurotransmission in TMS-EEG responses.

The combination of transcranial magnetic stimulation and electroencephalography (TMS-EEG) is emerging as a valuable tool for investigating brain functions in health and disease. However, the detailed neural mechanisms underlying TMS-EEG responses, including TMS-evoked EEG potentials (TEPs) and TMS-induced EEG oscillations (TIOs), remain largely unknown. Combining TMS-EEG with pharmacological interventions provides a unique opportunity to elucidate the roles of specific receptor-mediated neurotransmissions in these responses.

The Impact of Lexical-semantic Impairment on Spoken Verb Production in Individuals With Mild Cognitive Impairment.

Background: Although episodic memory is the primary concern in individuals with mild cognitive impairment (MCI), other cognitive functions may also be affected, including language. Language impairment in individuals with MCI has been attributed primarily to the breakdown of semantic representations, difficulties in accessing semantic information, and the weakening of executive functions. However, in most prior studies of word processing in individuals with MCI, researchers have used measures focused on noun production.