Chemical Composition and Anti-sickling Activity of the Essential Oil From the Leaves of Lantana Montevidensis (Spreng.) Briq (Verbenaceae) Growing Wild in the Western Region of Democratic Republic of Congo.

Lantana montevidensis (Spreng.) Briq. is a shrub native to South American countries.

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge.

Endocytic tethers modulate unconventional GAPDH secretion.

Yeast cell walls contain both classically-secreted and unconventionally-secreted proteins. The latter class lacks the signal sequence for translocation into the ER, therefore these proteins are transported to the wall by uncharacterized mechanisms. One such protein is the glycolytic enzyme glyceraldehyde-3-phosphate dehydrogenase (GAPDH) which is abundant in the cytosol, but also found in the yeast cell wall where it is enzymatically active.

A time-varying index for agricultural suitability across Europe from 1500-2000.

Throughout the last centuries, European climate changed substantially, which affected the potential to plant and grow crops. These changes happened not just over time but also had a spatial dimension. Yet, despite large climatic fluctuations, quantitative historical studies typically rely on static measures for agricultural suitability due to the non-availability of time-varying indices.

Associations between lifestyle and well-being in early and late pregnancy in women with overweight or obesity: Secondary analyses of the PEARS RCT.

Objectives: The associations between individual lifestyle behaviours and well-being are still poorly understood, particularly in the antenatal period when women are exposed to physiological changes and increased psychological distress. A healthy lifestyle score (HLS) comprising protective lifestyle behaviours may be useful for studying links between overall lifestyle and psychosocial outcomes. This study aimed to examine bidirectional associations between a HLS and its components and psychological well-being in pregnant women with overweight/obesity.

RadioFlow Cytometry Reveals That [F]FDG Uptake in K-RAS Lung Cancer Is Driven by Immune Cells: An Analysis on a Single-Cell Level.

Tumor metabolism is a hallmark of cancer, yet cellular heterogeneity within the tumor microenvironment presents a significant challenge, as bulk analysis masks the diverse metabolic profiles of individual cell populations. This complexity complicates our understanding of [F]FDG uptake by distinct cell types in the tumor microenvironment. This study aims to investigate [F]FDG uptake at the single-cell level in the lung of Kirsten rat sarcoma virus-driven cancer mouse models using the novel technique radio-flow cytometry (radioFlow).

Development of an agenda for research and action on climate change and health in the Caribbean.

This paper delineates the development of the Caribbean Research for Action Agenda which aims to empower Caribbean Small Island Developing States to reduce their vulnerabilities to the effects of climate change on health. The Caribbean Research for Action Agenda emerged from collaboration between nongovernmental organizations, academic institutions, and multilateral agencies that organized a conference on climate change and health in the Caribbean. This Agenda was formulated by prioritizing research areas, synthesizing evidence from conference presentations and scientific literature, and holding consultations with stakeholders and experts.

A patient with TPCN2-related hypopigmentation and ocular phenotype.

Pigmentation is orchestrated by hundreds of genes involved in cellular functions going from early developmental fate of pigment cells to melanin synthesis. The Two Pore Channel 2 (TPC2) a Ca2+ and Na+ channel acidifies melanosomal pH and thus inhibits pigmentation. A young patient was recently reported with generalized hypopigmentation but uneventful ocular examination, caused by the de novo heterozygous TPCN2 variant c.

Multi-omic quantitative trait loci link tandem repeat size variation to gene regulation in human brain.

Tandem repeat (TR) size variation is implicated in ~50 neurological disorders, yet its impact on gene regulation in the human brain remains largely unknown. In the present study, we quantified the impact of TR size variation on brain gene regulation across distinct molecular phenotypes, based on 4,412 multi-omics samples from 1,597 donors, including 1,586 newly sequenced ones. We identified ~2.

[Pseudoaneurysm of the mitro-aortic trigone: Clinical case and literature review].

Case Report: We report the case of a 63-year-old patient who underwent aortic valve replacement with a biological valve for a bicuspid aortic stenosis, and LIMA-IVA single-bypass surgery. Two weeks later, he presented with Enterococcus faecillis bacteremia, attributed to left pyelonephritis and successfully treated with Amoxicillin. Two months after his surgery, he had a new bacteremia due to Enterococcus faecalis and we discovered a pseudo-aneurysm of the mitro-aortic trigone.

Preclinical evaluation of the potential PARP-imaging probe [carbonyl-C]DPQ.

Background: Poly (ADP-ribose) polymerase (PARP) enzymes are crucial for the repair of DNA single-strand breaks and have become key therapeutic targets in homologous recombination-deficient cancers, including prostate cancer. To enable non-invasive monitoring of PARP-1 expression, several PARP-1-targeting positron emission tomography (PET) tracers have been developed. Here, we aimed to preclinically investigate [carbonyl-C]DPQ as an alternative PARP-1 PET tracer as it features a strongly distinct chemotype compared to the frontrunners [F]FluorThanatrace and [F]PARPi.

Liver Disease Complicating Familial Mediterranean Fever: A Study on 66 Patients Out of 533 Adult From the JIR Cohort.

Background: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV mutations. FMF patients can experience liver involvement, potentially leading to cirrhosis.

Objectives: This study aimed to evaluate liver involvement in FMF patients at a French tertiary centre for adult FMF.

Mouse strain-specific responses along the gut-brain axis upon fecal microbiota transplantation from children with autism.

Several factors are linked to the pathophysiology of autism spectrum disorders (ASD); however, the molecular mechanisms of the condition remain unknown. As intestinal problems and gut microbiota dysbiosis are associated with ASD development and severity, recent studies have focused on elucidating the microbiota-gut-brain axis' involvement. This study aims to explore mechanisms through which gut microbiota might influence ASD.

Foot growth disorder after surgery of lower limb malignant bone tumor in a pediatric series.

Bakground: Child malignant bone tumors often develop near growth cartilage. The gold standard surgery consists in large segmental resection. This resection often requires the sacrifice of growth cartilage, leading to inequality of limb length.

Environmental drivers of dissolved organic matter composition across central European aquatic systems: A novel correlation-based machine learning and FT-ICR MS approach.

Dissolved organic matter (DOM) present in surface aquatic systems is a heterogeneous mixture of organic compounds reflecting its allochthonous and autochthonous organic matter (OM) sources. The composition of DOM is determined by environmental factors like land use, water chemistry, and climate, which influence its release, movement, and turnover in the ecosystem. However, studying the impact of these environmental factors on DOM composition is challenging due to the dynamic nature of the system and the complex interactions of multiple environmental factors involved.

Positivity of antiphosphatidylserine/prothrombin antibodies identifies a subgroup of more severe antiphospholipid syndrome patients.

Objectives: Antiphospholipid syndrome (APS) is an autoimmune disease combining the occurrence of thrombotic and/or obstetric events with the persistent presence of antiphospholipid antibodies (i.e. lupus anticoagulant (LA), anti-cardiolipin (aCL) and anti-beta-2-glycoprotein I (aβ2GPI) antibodies).

Change in sleep quality Induced by adaptive servo-ventilation for central sleep apnea: 6-month follow-up of the multicenter nationwide French FACIL-VAA cohort.

Background: A large number of symptomatic individuals with central sleep apnea (CSA) in clinical practice have an indication for adaptive servo-ventilation (ASV) therapy.

Research Question: What are the effects of ASV therapy on sleep quality and PROMs in patients with CSA across a range of devices and indications.

Methods: This prospective, multicenter, observational cohort study was conducted in France and enrolled participants from June 2017 to February 2020.

[The PROMISE study : confirmation of effectiveness of benralizumab in severe eosinophilic asthmatic patients].

Benralizumab is a monoclonal antibody directed toward the α subunit of the interleukin-5 receptor. This drug has been established as a key treatment for severe hypereosinophilic asthma. Here we report results of the PROMISE study, an observational study conducted in 73 severe asthmatic patients treated at the asthma clinic of CHU Liège and whose blood eosinophil count was > 300/µl.

Deuterium Metabolic Imaging Enables the Tracing of Substrate Fluxes Through the Tricarboxylic Acid Cycle in the Liver.

Alterations in tricarboxylic acid (TCA) cycle metabolism are associated with hepatic metabolic disorders. Elevated hepatic acetate concentrations, often attributed to high caloric intake, are recognized as a pivotal factor in the etiology of obesity and metabolic syndrome. Therefore, the assessment of acetate breakdown and TCA cycle activity plays a central role in understanding the impact of diet-induced alterations on liver metabolism.

Increased nuclear import characterizes aberrant nucleocytoplasmic transport in neurons from patients with spinocerebellar ataxia type 7.

Introduction: Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disorder characterized by cerebellar and retinal degeneration. SCA7 is caused by a CAG-polyglutamine repeat expansion in the ataxin-7 gene, which encodes a transcription factor protein that is a core component of the STAGA co-activator complex. As ataxin-7 protein regularly shuttles between the nucleus and the cytosol, we sought to test if polyglutamine-expanded ataxin-7 protein results in nuclear membrane abnormalities or defects in nucleocytoplasmic (N/C) transport.

Why does tinnitus vary with naps? A polysomnographic prospective study exploring the somatosensory hypothesis.

Background: Tinnitus, defined as the conscious awareness of a noise without any identifiable corresponding external acoustic source, can be modulated by various factors. Among these factors, tinnitus patients commonly report drastic increases of tinnitus loudness following nap sleep. Previous studies have suggested that this clinical pattern could be attributed to a somatosensory modulation of tinnitus.