Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia.

Background: Approximately a third of frontotemporal dementia (FTD) is genetic with mutations in three genes accounting for most of the inheritance: C9orf72, GRN, and MAPT. Impaired synaptic health is a common mechanism in all three genetic variants, so developing fluid biomarkers of this process could be useful as a readout of cellular dysfunction within therapeutic trials.

Methods: A total of 193 cerebrospinal fluid (CSF) samples from the GENetic FTD Initiative including 77 presymptomatic (31 C9orf72, 23 GRN, 23 MAPT) and 55 symptomatic (26 C9orf72, 17 GRN, 12 MAPT) mutation carriers as well as 61 mutation-negative controls were measured using a microflow LC PRM-MS set-up targeting 15 synaptic proteins: AP-2 complex subunit beta, complexin-2, beta-synuclein, gamma-synuclein, 14-3-3 proteins (eta, epsilon, zeta/delta), neurogranin, Rab GDP dissociation inhibitor alpha (Rab GDI alpha), syntaxin-1B, syntaxin-7, phosphatidylethanolamine-binding protein 1 (PEBP-1), neuronal pentraxin receptor (NPTXR), neuronal pentraxin 1 (NPTX1), and neuronal pentraxin 2 (NPTX2).

[Multidimensional and computational theory of mood].

What is mood? Despite its crucial place in psychiatric nosography and cognitive science, it is still difficult to delimit its conceptual ground. The distinction between emotion and mood is ambiguous: mood is often presented as an affective state that is more prolonged and less intense than emotion, or as an affective polarity distinguishing high and low mood swinging around a baseline. However, these definitions do not match the clinical reality of mood disorders such as unipolar depression and bipolar disorder, and do not allow us to understand the effect of mood on behaviour, perception and cognition.

ECT: An essential therapy in psychiatry.

At a time when innovations in psychiatry are booming, particularly in the field of medical devices, we thought it necessary, as members of French Society for Biological Psychiatry and Neuropsychopharmacology (AFPBN), to reconsider one of the oldest medical devices in psychiatry: the ECT apparatus. First, we recall the regulatory aspects of ECT. National guidelines define means of implementation and conditions of administration of ECT.

The CBI-R detects early behavioural impairment in genetic frontotemporal dementia.

Introduction: Behavioural dysfunction is a key feature of genetic frontotemporal dementia (FTD) but validated clinical scales measuring behaviour are lacking at present.

Methods: We assessed behaviour using the revised version of the Cambridge Behavioural Inventory (CBI-R) in 733 participants from the Genetic FTD Initiative study: 466 mutation carriers (195 C9orf72, 76 MAPT, 195 GRN) and 267 non-mutation carriers (controls). All mutation carriers were stratified according to their global CDR plus NACC FTLD score into three groups: asymptomatic (CDR = 0), prodromal (CDR = 0.

A Bioinformatics Approach to MicroRNA-Sequencing Analysis Based on Human Saliva Samples of Patients with Endometriosis.

Endometriosis, defined by the presence of endometrium-like tissue outside the uterus, affects 2-10% of the female population, i.e., around 190 million women, worldwide.

Neurovascular dysfunction in GRN-associated frontotemporal dementia identified by single-nucleus RNA sequencing of human cerebral cortex.

Frontotemporal dementia (FTD) is the second most prevalent form of early-onset dementia, affecting predominantly frontal and temporal cerebral lobes. Heterozygous mutations in the progranulin gene (GRN) cause autosomal-dominant FTD (FTD-GRN), associated with TDP-43 inclusions, neuronal loss, axonal degeneration and gliosis, but FTD-GRN pathogenesis is largely unresolved. Here we report single-nucleus RNA sequencing of microglia, astrocytes and the neurovasculature from frontal, temporal and occipital cortical tissue from control and FTD-GRN brains.

Endometriosis Associated-miRNome Analysis of Blood Samples: A Prospective Study.

The aim of our study was to describe the bioinformatics approach to analyze miRNome with Next Generation Sequencing (NGS) of 200 plasma samples from patients with and without endometriosis. Patients were prospectively included in the ENDO-miRNA study that selected patients with pelvic pain suggestive of endometriosis. miRNA sequencing was performed using an Novaseq6000 sequencer (Illumina, San Diego, CA, USA).

[Conspiracy theories and COVID-19: How do conspiracy beliefs arise?].

The COVID-19 pandemic caused by the novel coronavirus SARS-CoV-2 has caused an unprecedented global crisis, and a proliferation of conspiracy theories. These conspiratorial beliefs has contributed to weakening the credibility of government public health measures, limiting citizens' access to reliable sources of information, and disrupting the response of health systems to the crisis. Several hypotheses have been proposed in psychology and social science to understand the genesis of these beliefs during a pandemic, including generational, socio-cultural and political characteristics of individuals, and psychological factors such as the desire to preserve one's safety, to maintain a positive self-image, or even to strengthen its social role.

Somatotopic Organization of Hyperdirect Pathway Projections From the Primary Motor Cortex in the Human Brain.

Background: The subthalamic nucleus (STN) is an effective neurosurgical target to improve motor symptoms in Parkinson's Disease (PD) patients. MR-guided Focused Ultrasound (MRgFUS) subthalamotomy is being explored as a therapeutic alternative to Deep Brain Stimulation (DBS) of the STN. The hyperdirect pathway provides a direct connection between the cortex and the STN and is likely to play a key role in the therapeutic effects of MRgFUS intervention in PD patients.

How can we define the presymptomatic C9orf72 disease in 2022? An overview on the current definitions of preclinical and prodromal phases.

Repeat expansions in C9orf72 gene are the main genetic cause of frontotemporal dementia, amyotrophic lateral sclerosis and related phenotypes. With the advent of disease-modifying treatments, the presymptomatic disease phase is getting increasing interest as an ideal time window in which innovant therapeutic approaches could be administered. Recommendations issued from international study groups distinguish between a preclinical disease stage, during which lesions accumulate in absence of any symptoms or signs, and a prodromal stage, marked by the appearance the first subtle cognitive, behavioral, psychiatric and motor signs, before the full-blown disease.

Longitudinal Cognitive Changes in Genetic Frontotemporal Dementia Within the GENFI Cohort.

Background And Objectives: Disease-modifying therapeutic trials for genetic frontotemporal dementia (FTD) are underway, but sensitive cognitive outcome measures are lacking. The aim of this study was to identify such cognitive tests in early stage FTD by investigating cognitive decline in a large cohort of genetic FTD pathogenic variant carriers and by investigating whether gene-specific differences are moderated by disease stage (asymptomatic, prodromal, and symptomatic).

Methods: , , and pathogenic variant carriers as well as controls underwent a yearly neuropsychological assessment covering 8 cognitive domains as part of the Genetic FTD Initiative, a prospective multicenter cohort study.

The influence of cystathionine on neurochemical quantification in brain tumor in vivo MR spectroscopy.

Purpose: To evaluate the ability of the PRESS sequence (T  = 97 ms, optimized for 2-hydroxyglutarate detection) to detect cystathionine in gliomas and the effect of the omission of cystathionine on the quantification of the full neurochemical profile.

Methods: Twenty-three subjects with a glioma were retrospectively included based on the availability of both MEGA-PRESS and PRESS acquisitions at 3T, and the presence of the cystathionine signal in the edited MR spectrum. In eight subjects, the PRESS acquisition was performed also in normal tissue.

Becoming a Mother During COVID-19 Pandemic: How to Protect Maternal Mental Health Against Stress Factors.

During the COVID-19 pandemic, there were an increasing prevalence of perinatal psychiatric symptoms, such as perinatal anxiety, depression, and post-traumatic stress disorders. This growth could be caused by a range of direct and indirect stress factors related to the virus and changes in health, social and economic organization. In this review, we explore the impact of COVID-19 pandemic on perinatal mental health, and propose a range of hypothesis about their etiological mechanisms.

Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations.

Introduction: A third of frontotemporal dementia (FTD) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (MAPT), chromosome 9 open reading frame 72 (C9orf72) and progranulin (GRN). Prior studies of prodromal FTD have identified impaired executive function and social cognition early in the disease but few have studied naming in detail.

Methods: We investigated performance on the Boston Naming Test (BNT) in the GENetic Frontotemporal dementia Initiative cohort of 499 mutation carriers and 248 mutation-negative controls divided across three genetic groups: C9orf72, MAPT and GRN.

Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort.

Background: Reduced empathy is a common symptom in frontotemporal dementia (FTD). Although empathy deficits have been extensively researched in sporadic cases, few studies have explored the differences in familial forms of FTD.

Methods: Empathy was examined using a modified version of the Interpersonal Reactivity Index (mIRI) in 676 participants from the Genetic FTD Initiative: 216 mutation-negative controls, 192 C9orf72 expansion carriers, 193 GRN mutation carriers and 75 MAPT mutation carriers.

[Perinatal beliefs: Neurocognitive mechanisms and cultural specificities].

Perinatal beliefs contribute to the experience of pregnancy and the process of parenthood. Many of these perinatal beliefs have been perpetuated and evolved over time and throughout the world, exerting their influence on the behavior of pregnant women in interaction with medical recommendations. These beliefs generally offer explanations for gravidic and puerperal phenomena, helping to reduce the uncertainty of parents faced with the biological, psychological and social transitions of pregnancy.

Temozolomide and Radiotherapy versus Radiotherapy Alone in Patients with Glioblastoma, IDH-wildtype: Post Hoc Analysis of the EORTC Randomized Phase III CATNON Trial.

Purpose: In a post hoc analysis of the CATNON trial (NCT00626990), we explored whether adding temozolomide to radiotherapy improves outcome in patients with IDH1/2 wildtype (wt) anaplastic astrocytomas with molecular features of glioblastoma [redesignated as glioblastoma, isocitrate dehydrogenase-wildtype (IDH-wt) in the 2021 World Health Organization (WHO) classification of central nervous system tumors].

Patients And Methods: From the randomized phase III CATNON study examining the addition of adjuvant and concurrent temozolomide to radiotherapy in anaplastic astrocytomas, we selected a subgroup of IDH1/2wt and H3F3Awt tumors with presence of TERT promoter mutations and/or EGFR amplifications and/or combined gain of chromosome 7 and loss of chromosome 10. Molecular abnormalities including MGMT promoter methylation status were determined by next-generation sequencing, DNA methylation profiling, and SNaPshot analysis.

[The invisible pregnancy: Clinical characteristics and perspectives about denial of pregnancy].

Denial of pregnancy is a public health problem due to maternal, fetal, and neonatal morbidity, affecting both physical and mental health. It generally involves an absence of the physical signals associated with pregnancy such as abdominal swelling, amenorrhea, weight gain, or even perception of fetal movements. Despite the potential consequences for mother and child, there is still little data on its clinical features and the neurocognitive mechanisms involved.

Salivary MicroRNA Signature for Diagnosis of Endometriosis.

Background: Endometriosis diagnosis constitutes a considerable economic burden for the healthcare system with diagnostic tools often inconclusive with insufficient accuracy. We sought to analyze the human miRNAome to define a saliva-based diagnostic miRNA signature for endometriosis.

Methods: We performed a prospective ENDO-miRNA study involving 200 saliva samples obtained from 200 women with chronic pelvic pain suggestive of endometriosis collected between January and June 2021.

Ketamine Augmentation of Exposure Response Prevention Therapy for Obsessive-compulsive Disorder.

Obsessive-compulsive disorder (OCD) is a disabling disease characterized by intrusive thoughts, with compulsions performed to lessen distress. Many patients with OCD do not respond to first-line intervention, such as serotonin reuptake inhibitors (SRIs) and exposure and response prevention (ERP) therapy. Previous studies have focused on the use of ketamine, a nonselective N-methyl D-aspartate receptor (NMDAR) antagonist, for treatment-resistant OCD.

Clues for Improving the Pathophysiology Knowledge for Endometriosis Using Plasma Micro-RNA Expression.

The pathophysiology of endometriosis remains poorly understood. The aim of the present study was to investigate functions and pathways associated with the various miRNAs differentially expressed in patients with endometriosis. Plasma samples of the 200 patients from the prospective "ENDO-miRNA" study were analyzed and all known human miRNAs were sequenced.

Cognitive composites for genetic frontotemporal dementia: GENFI-Cog.

Background: Clinical endpoints for upcoming therapeutic trials in frontotemporal dementia (FTD) are increasingly urgent. Cognitive composite scores are often used as endpoints but are lacking in genetic FTD. We aimed to create cognitive composite scores for genetic frontotemporal dementia (FTD) as well as recommendations for recruitment and duration in clinical trial design.

[The predictive mind: An introduction to Bayesian Brain Theory].

The question of how the mind works is at the heart of cognitive science. It aims to understand and explain the complex processes underlying perception, decision-making and learning, three fundamental areas of cognition. Bayesian Brain Theory, a computational approach derived from the principles of Predictive Processing (PP), offers a mechanistic and mathematical formulation of these cognitive processes.