Posterior Cortical Atrophy Due to Alzheimer Disease in a Person With Down Syndrome: A Case Report.

Objectives: Atypical variants are rare in genetically determined Alzheimer disease (AD). This case describes a patient with Down syndrome-associated Alzheimer disease (DSAD) who presented with symptoms of posterior cortical atrophy (PCA).

Methods: We conducted a clinical and cognitive evaluation, genotyping, determination of AD biomarkers in CSF, structural MRI, [18F]FDG-PET, and tau-PET ([18F]PI2620) scans.

Defining decision thresholds for judgments on health benefits and harms using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) Evidence to Decision (EtD) frameworks: a randomised methodological study (GRADE-THRESHOLD).

Introduction: GRADE and other Evidence to Decision (EtD) frameworks are widely used by guideline development groups (GDG) and other decision-makers. When GDGs judge the magnitude of desirable and undesirable health outcomes on EtDs, they typically categorize them as trivial, small, moderate or large. However, generic judgment or decision thresholds (DTs) that could guide the user about such estimates of effect size or serve as references for interpretation of findings are not yet available.

Nemaline Myopathy Type 6 Caused by Variants in the Gene: A Cross-Sectional Study of 24 Patients.

Background And Objectives: Nemaline myopathy type 6 (NEM6) is the most prevalent type of nemaline myopathy in the Netherlands. Because a detailed clinical characterization is not available yet, we here provide a detailed assessment of 24 patients.

Methods: In this cross-sectional study, we performed a full clinical assessment (medical history and neurologic examination) in patients with NEM6.

Instruments evaluating the duration and pace of clinical encounters: A scoping review.

Objective: Hurried encounters in clinical settings contribute to dissatisfaction among both patients and clinicians and may indicate and contribute to low-quality care. We sought to identify patient- or clinician-reported instruments concerning this experience of time in clinical encounters.

Methods: We searched multiple databases from inception through July 2023.

Evaluating the feasibility of "Friends in Nature," a complex nature-based social intervention to address loneliness and quality of life in six cities worldwide.

Background: Loneliness, a major public health concern, could be alleviated through social interventions with nature contact as a primary component. "Friends in Nature" is a complex nature-based social intervention designed to be implemented as part of "Reimagining Environments for Connection and Engagement: Testing Actions for Social Prescribing in Natural Spaces" (RECETAS). This project aims to alleviate loneliness and promote health-related quality of life in six different geographic areas worldwide.

ApoB100 Remodeling and Stiffened Cholesteryl Ester Core Raise LDL Aggregation in Familial Hypercholesterolemia Patients.

Patients with familial hypercholesterolemia (FH) exhibit a significant residual cardiovascular risk. A new cardiovascular risk factor is the susceptibility of individual LDL particles to aggregation. This study examined LDL aggregation and its relationship with LDL lipid composition and biophysical properties in patients with FH compared to controls.

Gaps in biomedical research in frontotemporal dementia: A call for diversity and disparities focused research.

Frontotemporal dementia (FTD) is one of the leading causes of young-onset dementia before age 65, typically manifesting as abnormal behavior (in behavioral variant FTD) or language impairment (in primary progressive aphasia). Although FTD affects all populations across the globe, knowledge regarding the pathophysiology and genetics derives primarily from studies conducted in North America and Western Europe. Globally, biomedical research for FTD is hindered by variable access to diagnosis, discussed in this group's earlier article, and by reduced access to expertise, funding, and infrastructure.

Lack of pragmatic attitude of self-labelled pragmatic trials on manual therapy: a methodological review.

Background: Pragmatic randomized controlled trials are getting more interest to improve trials' external validity. This study aimed to assess how pragmatic the design of the self-labelled pragmatic randomised controlled trials in the manual therapy field is.

Methods: We searched MEDLINE and the Cochrane Central Register of Controlled Trials for self-labelled pragmatic randomised controlled trials in the manual therapy field until January 2024 were included.

Hemodynamic effects of carvedilol plus simvastatin in cirrhosis with severe portal hypertension and suboptimal response to β-blockers: A double-blind, placebo-controlled, randomized-trial.

Background Aims: Carvedilol is a non-selective β-blocker (NSBBs) with anti-α1-adrenergic activity, more effective than traditional NSBBs in reducing portal-pressure (HVPG). However, 35%-45% of patients still have insufficient HVPG-decrease. Statins ameliorate endothelial dysfunction, reduce hepatic vascular resistance, and have pleiotropic effects.

Cross-Linguistic Analysis of Speech Markers: Insights from English, Chinese, and Italian Speakers.

Cross-linguistic studies with healthy individuals are vital, as they can reveal typologically common and different patterns while providing tailored benchmarks for patient studies. Nevertheless, cross-linguistic differences in narrative speech production, particularly among speakers of languages belonging to distinct language families, have been inadequately investigated. Using a picture description task, we analyze cross-linguistic variations in connected speech production across three linguistically diverse groups of cognitively normal participants-English, Chinese (Mandarin and Cantonese), and Italian speakers.

Assessment of chronic overlapping pain comorbidities for the management of temporomandibular disorders: Secondary analysis of a randomized clinical trial.

Background: Chronic painful temporomandibular disorders (TMD) are a functional pain syndrome that embodies a spectrum of clinical manifestations and expresses great complexity through the coexistence of multiple comorbidities.

Objective: Evaluate the prevalence of pain comorbidities, explore the correlation between comorbidities, kinesiophobia, catastrophizing, and pain disability at baseline, and determine variables of interest for prediction response to physiotherapy interventions at different follow-up times.

Methods: This is a secondary analysis of a previously conducted randomized controlled trial (RCT).

A French multicenter analytical evaluation of the automated Lumipulse G sNfL blood assay (Fujirebio®) and its comparison to four other immunoassays for serum neurofilament light chain assessment in clinical settings.

Objectives: Measurement of serum neurofilament light chain (sNfL) protein is becoming a key biomarker for many neurological diseases. Several immunoassays have been developed to meet these clinical needs, revealing significant differences in terms of variability and results. Here, we propose a French multicenter comparison of 5 sNfL assays.

Metabolomics Approach to Identify Biomarkers of Acute and Subacute Mastitis in Milk Samples: A Pilot Case-Control Study.

: Mastitis is one of the main complications during breastfeeding and contributes to the cessation of breastfeeding. However, the etiopathogenesis and diagnosis of mastitis are complex and not yet well defined. We aimed to identify metabolic and lipidic changes in human milk during acute and subacute mastitis in order to detect potential biomarkers of mastitis.

Clarifying the association of CSF Aβ, tau, BACE1, and neurogranin with AT(N) stages in Alzheimer disease.

Background: Current AT(N) stratification for Alzheimer's disease (AD) accounts for complex combinations of amyloid (A), tau proteinopathy (T) and neurodegeneration (N) signatures. Understanding the transition between these different stages is a major challenge, especially in view of the recent development of disease modifying therapy.

Methods: This is an observational study, CSF levels of Tau, pTau181, pTau217, Aβ38/40/42, sAPPα/β, BACE1 and neurogranin were measured in the BALTAZAR cohort of cognitively impaired patients and in the Alzheimer's Disease Neuroimaging Initiative (ADNI).

Scoping review of anticancer drug utilization in lung cancer patients at the end of life.

Purpose: This scoping review aims to deepen the understanding of end-of-life anticancer drug use in lung cancer patients, a disease marked by high mortality and symptom burden. Insight into unique end-of-life treatment patterns is crucial for improving the appropriateness of cancer care for these patients.

Methods: Comprehensive searches were carried out in Medline and Embase to find articles on the utilization of anticancer drugs in the end of life of lung cancer patients.

Insights into the use of biomarkers in clinical trials in Alzheimer's disease.

Biomarkers have been instrumental in population selection and disease monitoring in clinical trials of recently FDA-approved drugs targeting amyloid-β to slow the progression of Alzheimer's disease (AD). As new therapeutic strategies and biomarker techniques emerge, the importance of biomarkers in drug development is growing exponentially. In this emerging landscape, biomarkers are expected to serve a wide range of contexts of use in clinical trials focusing on AD and related dementias.

Exploring algorithms to select candidates for non-selective beta-blockers in cirrhosis: A post hoc analysis of the PREDESCI trial.

Background & Aims: Whether non-invasive tests (NITs) can accurately select patients with cirrhosis requiring non-selective beta-blockers (NSBBs) for clinically significant portal hypertension (CSPH) and prevention of decompensation is unclear. Our aim was to test the performance of NIT-based algorithms for CSPH diagnosis using the prospective PREDESCI cohort. We investigated whether a new algorithm combining NITs with endoscopy could improve performance.

Clinical value of plasma pTau181 to predict Alzheimer's disease pathology in a large real-world cohort of a memory clinic.

Background: The identification of patients with an elevated risk of developing Alzheimer's disease (AD) dementia and eligible for the disease-modifying treatments (DMTs) in the earliest stages is one of the greatest challenges in the clinical practice. Plasma biomarkers has the potential to predict these issues, but further research is still needed to translate them to clinical practice. Here we evaluated the clinical applicability of plasma pTau181 as a predictive marker of AD pathology in a large real-world cohort of a memory clinic.

Identification of Genetic Loci Associated With Intracerebral Hemorrhage Using a Multitrait Analysis Approach.

Background And Objectives: Genome-wide association studies (GWASs) have only 2 loci associated with spontaneous intracerebral hemorrhage (ICH): for lobar and 1q22 for nonlobar ICH. We aimed to discover new loci through an analysis that combines correlated traits (multi-trait analysis of GWAS [MTAG]) and explore a gene-based analysis, transcriptome-wide association study (TWAS), and proteome-wide association study (PWAS) to understand the biological mechanisms of spontaneous ICH providing potential therapeutic targets.

Methods: We use the published MTAG of ICH (patients with spontaneous intraparenchymal bleeding) and small-vessel ischemic stroke.

The Effect of Obstructive Sleep Apnea on Subclinical Target Organ Damage in Patients With Resistant Hypertension.

Introduction: Among all patients with hypertension, those with resistant hypertension (RH) have the highest rates of subclinical organ damage (SOD). The prevalence of obstructive sleep apnea (OSA) is high in RH patients, and it could contribute to SOD. We aimed to investigate how OSA and its treatment are related to SOD in a large cohort of RH patients.