A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.

Copy number variation (CNV) of the amyloid-β precursor protein gene (APP) is a known cause of autosomal dominant Alzheimer disease (ADAD), but de novo genetic variants causing ADAD are rare. We report a mother and daughter with neuropathologically confirmed definite Alzheimer disease (AD) and extensive cerebral amyloid angiopathy (CAA). Copy number analysis identified an increased number of APP copies and genome sequencing (GS) revealed the underlying complex genomic rearrangement (CGR) including a triplication of APP with two unique breakpoint junctions (BPJs).

Advances in assessment and cognitive neurorehabilitation of HIV-related neurocognitive impairment.

Neurocognitive impairment (NCI) is present in around 40% of people with HIV and substantially affects everyday life, adherence to combined antiretroviral therapy (cART) and overall life expectancy. Suboptimal therapy regimen, opportunistic infections, substance abuse and highly prevalent psychiatric co-morbidities contribute to NCI in people with HIV. In this review, we highlight the need for efficacious treatment of HIV-related NCI through pharmacological approaches and cognitive neurorehabilitation, discussing recent randomized controlled trials in this domain.

Cross-Cultural Validation of the Sexual Desire Inventory (SDI-2) in 42 Countries and 26 Languages.

Sexual desire is a complex construct with important implications for sexual functioning and well-being. In this research, we translated the Sexual Desire Inventory (SDI-2), a widely used scale for assessing sexual (desire), into 25 languages from English and used data from the International Sex Survey (ISS) to (a) investigate its psychometric properties (i.e.

Explaining recovery from coma with multimodal neuroimaging.

The aim of this prospective, observational cohort study was to investigate and assess diverse neuroimaging biomarkers to predict patients' neurological recovery after coma. 32 patients (18-76 years, M = 44.8, SD = 17.

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Objective: There are few tools capable of measuring the personal recovery of individuals presenting with mental disorders that take into account the various dimensions of recovery. Personal recovery encompasses several objectives at the level of autonomy, positive interpersonal relationships, mental and physical health, self-acceptance, the school/professional domain, as well as developing a life project. A team of practitioners and researchers from four countries (Canada, Belgium, France, and Switzerland) adapted the Client Assessment of Strengths, Interests, and Goals (CASIG) tool to more accurately measure these different aspects of personal recovery.

Evaluation of upper limb perception after stroke with the new Affected Limb Perception Questionnaire (ALPQ): a study protocol.

Background: Following a stroke, patients may suffer from alterations in the perception of their own body due to an acquired deficit in body representations. While such changes may impact their quality of life as well as recovery, they are not systematically assessed in clinical practice. This study aims at providing a better understanding of the rate, evolution, and impact on recovery of upper limb (UL) body perceptions (BPs) alterations following stroke.

Long-term evaluation of anterior thalamic deep brain stimulation for epilepsy in the European MORE registry.

Objective: Short-term outcomes of deep brain stimulation of the anterior nucleus of the thalamus (ANT-DBS) were reported for people with drug-resistant focal epilepsy (PwE). Because long-term data are still scarce, the Medtronic Registry for Epilepsy (MORE) evaluated clinical routine application of ANT-DBS.

Methods: In this multicenter registry, PwE with ANT-DBS were followed up for safety, efficacy, and battery longevity.

Long-Term Results of Stereotactic Radiotherapy in Patients with at Least 10 Brain Metastases at Diagnosis.

Purpose: to evaluate an SRT approach in patients with at least 10 lesions at the time of BM initial diagnosis.

Methods: This is a monocentric prospective cohort of patients treated by SRT, followed by a brain MRI every two months. Subsequent SRT could be delivered in cases of new BMs during follow-up.

The short version of the Sexual Distress Scale (SDS-3): Measurement invariance across countries, gender identities, and sexual orientations.

Background: The three-item Sexual Distress Scale (SDS-3) has been frequently used to assess distress related to sexuality in public health surveys and research on sexual wellbeing. However, its psychometric properties and measurement invariance across cultural, gender and sexual subgroups have not yet been examined. This multinational study aimed to validate the SDS-3 and test its psychometric properties, including measurement invariance across language, country, gender identity, and sexual orientation groups.

Pathways to care in youth and young adults at clinical high risk for psychosis in Switzerland: Current situation and clinical implementation of the PsyYoung project.

Aim: We aim to give an insight into the current situation in Switzerland concerning the pathways to care of young people with clinical high risk of psychosis. In a second step we propose a procedure of optimizing pathways to care developed within the project PsyYoung.

Methods: A qualitative survey derived and adapted from Kotlicka-Antczak et al.

[Discontinuing disease-modifying therapies in multiple sclerosis].

Aging in multiple sclerosis (MS) leads to altered clinical manifestations, where the pathophysiology shifts towards compartmentalized inflammation that drives clinical progression independent of relapse activity. Consequently, the effectiveness of disease-modifying therapies (DMTs) diminishes in older patients, coinciding with an elevated risk of adverse events. This raises the question of whether MS therapies should be discontinued after a certain age, which is often proposed for patients over 55 years.

[Treatments for multiple sclerosis: update].

The management of multiple sclerosis (MS) has undergone a veritable revolution in recent years, with the arrival of highly effective treatments. In some cases, therapeutic discussions even precede the first clinical signs of the disease. The aim of this review is to present the therapeutic arsenal of progression-preventing treatments available in 2024 for MS, with anti-CD20 antibodies taking pride of place, also available for certain progressive forms of MS.

Cross-cultural validation and measurement invariance of anxiety and depression symptoms: A study of the Brief Symptom Inventory (BSI) in 42 countries.

Background: Depression and anxiety are among the most prevalent mental health issues experienced worldwide. However, whereas cross-cultural studies utilize psychometrically valid and reliable scales, fewer can meaningfully compare these conditions across different groups. To address this gap, the current study aimed to psychometrically assess the Brief Symptomatology Index (BSI) in 42 countries.

The science of micronutrients in clinical practice - Report on the ESPEN symposium.

Background & Aims: The European Society for Clinical Nutrition and Metabolism published its first clinical guidelines for use of micronutrients (MNs) in 2022. A two-day web symposium was organized in November 2022 discussing how to apply the guidelines in clinical practice. The present paper reports the main findings of this symposium.

Psychometric properties of the Alcohol Use Disorders Identification Test (AUDIT) across cross-cultural subgroups, genders, and sexual orientations: Findings from the International Sex Survey (ISS).

Introduction: Despite being a widely used screening questionnaire, there is no consensus on the most appropriate measurement model for the Alcohol Use Disorders Identification Test (AUDIT). Furthermore, there have been limited studies on its measurement invariance across cross-cultural subgroups, genders, and sexual orientations.

Aims: The present study aimed to examine the fit of different measurement models for the AUDIT and its measurement invariance across a wide range of subgroups by country, language, gender, and sexual orientation.

The eleven-item Alcohol, Smoking and Substance Involvement Screening Test (ASSIST-11): Cross-cultural psychometric evaluation across 42 countries.

The Alcohol, Smoking and Substance Involvement Screening Test (ASSIST) is an instrument to screen substance-use-related health risks. However, little is known whether the ASSIST could be further shortened while remaining psychometrically sound across different countries, languages, gender identities, and sexual-orientation-based groups. The study aimed to validate a shortened 11-item ASSIST (ASSIST-11).

SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.

Background And Purpose: Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot-Marie-Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN) resulting in lower limb (LL) weakness and muscular atrophy. In this study, phenotype and genotype landscapes of SORD-related peripheral neuropathies were described in a French and Swiss cohort. Serum sorbitol dosages were used to classify SORD variants.