Phenotype Spectrum of TRPM3-Associated Disorders.

Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments.

Methods: We analyzed retrospectively the phenotypes and genotypes of 43 individuals with TRPM3 variants, acquired from GeneMatcher and collaborations (n = 21), and through a systematic literature search (n = 22).

Neo-enhancers in T-cell acute lymphoblastic Leukaemia (T-ALL) and beyond.

T-cell acute lymphoblastic leukaemia (T-ALL) is a rare aggressive haematological malignancy characterised by the clonal expansion of immature T-cell precursors. It accounts for 15% of paediatric and 25% of adult ALL. T-ALL is associated with the overexpression of major transcription factors (TLX1/3, TAL1, HOXA) that drive specific transcriptional programmes and constitute the molecular classifying subgroups of T-ALL.

Photoresponsive Helical Foldamers: Conformational Control through Double Helix Formation and Light-Induced Protonation.

Helical foldamers constitute particularly relevant targets in the field of host-guest chemistry, be that as hosts or substrates. In this context, the strategies reported so far to control the dimensions and shape of foldamers mainly involve modifications of the skeleton through covalent synthesis. Herein, we prepared an oligopyridine dicarboxamide foldamer substituted by photo-active tetraphenylethylenes (TPE).

Care trajectories and adherence to respiratory management recommendations in persons living with amyotrophic lateral sclerosis: a ten-year cohort study in a French tertiary university centre.

: This study determined real-life care trajectories before and after initiation of noninvasive ventilation (NIV) in patients with amyotrophic lateral sclerosis (ALS). Caregiver adherence to respiratory management recommendations and the associated survival rate of people with ALS were also assessed. : Data were obtained from a tertiary center prospective ALS database that included 10 years of follow-up data for people with ALS.

Investigation of the Effect of Sb Ion on the Spectroscopic Properties of Eu-Doped YVO Nanosized Materials.

This paper discusses the origin of emission quenching in yttrium orthovanadate codoped with Eu and Sb ions. Highly crystalline yttrium orthovanadate nanoparticles with chemical composition YEuSbVO ( = 0-5.4 mol %, = 0-2.

Mechanochemical Deracemization: A Sustainable Approach to Enantiopurity.

We introduce mechanochemical deracemization (MCDR) as a novel strategy for obtaining enantiopure compounds. This study demonstrates the successful transposition of six archetypical deracemization reactions from a solvent-based to a solvent-minimized ball milling environment. The scope includes a ketone, isoindolinones, imines, an ester, and an inorganic compound, all of which deracemized successfully.

[Clostridioides difficile infection diagnosis].

Clostridioides difficile is a Gram-positive, spore-forming anaerobic enteropathogen responsible for a wide spectrum of clinical diseases ranging from mild diarrhoea to pseudomembranous colitis. It is the first cause of healthcare-associated diarrhoeas, but community-associated Clostridioides difficile infections (CDI) are increasingly reported in patients without the common risk factors (age > 65 years, previous antibiotic treatment). The main C.

Anaplastic large cell T-cell lymphoma: insights from cytological and immunological profiles across ten diverse cases.

While the latest WHO classification of hematological neoplasms helps refine the diagnostic criteria for anaplastic large cell lymphomas (ALCL), their diagnosis can still be challenging. This retrospective series of 10 ALCL cases illustrates the cytological appearance and immunological profile obtained through flow cytometry (FCM) from various sample types, including lymph node biopsies (LN), peripheral blood (PB), cerebrospinal fluid (CSF), and pleural fluid (PF). ALCL exhibits a polymorphic cytological appearance, ranging from "doughnut" cells to Hodgkin-like cells, very large cells, and small cells, with this polymorphism being particularly pronounced in ALK (-) forms.

Human Footprint and Forest Disturbance Reduce Space Use of Brown Bears (Ursus arctos) Across Europe.

Three-quarters of the planet's land surface has been altered by humans, with consequences for animal ecology, movements and related ecosystem functioning. Species often occupy wide geographical ranges with contrasting human disturbance and environmental conditions, yet, limited data availability across species' ranges has constrained our understanding of how human pressure and resource availability jointly shape intraspecific variation of animal space use. Leveraging a unique dataset of 758 annual GPS movement trajectories from 375 brown bears (Ursus arctos) across the species' range in Europe, we investigated the effects of human pressure (i.

Organic Food Consumption Might Protect Against Sensitisation to Inhalant Allergens at School Age: The PARIS Cohort.

Background: Interest has grown recently in childhood diet's role in allergy development. However, the studies focusing on organic food consumption are scarce. We address the relationships between such consumption and respiratory/allergic morbidity at school age in the PARIS (Pollution and asthma risk: An infant study) cohort.

Long-term evaluation of rheumatoid arthritis activity with erythrocyte methotrexate-polyglutamate 3.

Background: Methotrexate (MTX) is the first-line treatment for Rheumatoid Arthritis (RA), yet 30%-50% of RA patients develop resistance to MTX, which can manifest several years after treatment initiation.

Objective: This study investigates the relationship between erythrocyte methotrexate polyglutamates (MTX-PGs) subtype concentrations and clinical disease activity in RA patients undergoing long-term MTX treatment.

Methods: In this cross-sectional study, patients on a stable dose of subcutaneous MTX for several years were included.

Body mass index affects imatinib exposure: Real-world evidence from TDM with adaptive dosing.

Background: Imatinib is the treatment of elderly or frail patients with chronic myeloid leukemia (CML). Trough levels of around 1000 ng/ml are considered as the target exposure.

Objectives: We searched for baseline parameters associated with imatinib pharmacokinetics, and studied the clinical impact of subsequent adaptive dosing.

Comparative immunogenicity assessment of biosimilar natalizumab to its reference medicine: a matching immunogenicity profile.

Background: Biosimilar natalizumab (biosim-NTZ) is the first biosimilar monoclonal antibody of reference natalizumab (ref-NTZ) for treatment of relapsing forms of multiple sclerosis (MS). Within the totality of evidence for demonstration of biosimilarity, immunogenicity assessments were performed in healthy subjects and patients with relapsing-remitting MS (RRMS) to confirm a matching immunogenicity profile between biosim-NTZ and ref-NTZ.

Methods: Immunogenicity of biosim-NTZ versus ref-NTZ was evaluated in two pivotal clinical studies.

Genetic manipulation of bacteriophage T4 utilizing the CRISPR-Cas13b system.

CRISPR-Cas type II and type V systems are inefficient in modifying bacteriophage T4 genome, due to hypermodification of its DNA. Here, we present a genome editing technique for bacteriophage T4 using the type VI CRISPR-Cas system. Using BzCas13b targeting of T4 phage, we were able to individually delete both T4 glucosyl transferase genes, and .

Diagnosis of cognitive impairment and dementia: blood plasma and optical coherence tomography.

Accurate and early diagnosis of Alzheimer's disease and vascular dementia is crucial for enabling timely interventions and improving patient outcomes. This study evaluates the diagnostic performance of plasma biomarkers (neurofilament light chain and phosphorylated tau181) and retinal biomarkers (retinal nerve fibre layer and ganglion cell-inner plexiform layer), individually and in combination, in differentiating moderate cognitive impairment and dementia from mild cognitive impairment and no cognitive impairment. A cross-sectional study was conducted involving 509 participants, aged 50 and older, recruited from a memory clinic.

Neuropathic Component Characteristics in Chronic Secondary Musculoskeletal Pain After Postmenopausal Osteoporotic Fractures: A Pilot Cross-Sectional Study.

The neuropathic characteristics of pain occurring after an osteoporosis (OP)-related fracture are often under-recognized. The aim of this pilot study is to identify, in patients suffering from pain localized on the site of a previous osteoporotic fracture, the presence of neuropathic characteristics, their medical management, and their impact on quality of life. This pilot cross-sectional study on consecutive patients in University Hospital, Rheumatology Department, Clermont-Ferrand, France, was approved by the Ethics Committee (IRB number 2023-CF34).

Efficacy of a pheromone-impregnated collar in controlling feline problem behaviors, and an assessment of adverse events associated with collar use.

The aim of this study is to assess a pheromone complex-impregnated collar in the control of feline problem behaviors, and to assess the ease of use and tolerance of the collar compared with a regular collar. Six hundred and twenty-four cats from 459 households with one or more of four problem behaviors (problem urination, scratching, fear, or inter-cat conflict) were recruited to a 28-day study. Households were randomly assigned so that each cat received either a pheromone-impregnated polymer collar (containing 13% FELIWAY Optimum) or a control regular silicone collar.

Simple reaction time to visual and auditory stimulation in glaucoma.

Background/objectives: Glaucoma can impact the ability to perform daily life activities such as driving. In such tasks, reaction time is critical to detect hazards. Understanding the modalities that affect response times is thus essential for clinical care.

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies.

Background: In mammals, sperm fertilization potential relies on efficient progression within the female genital tract to reach and fertilize the oocyte. This fundamental property is supported by the flagellum, an evolutionarily conserved organelle, which contains dynein motor proteins that provide the mechanical force for sperm propulsion and motility. Primary motility of the sperm cells is acquired during their transit through the epididymis and hyperactivated motility is acquired throughout the journey in the female genital tract by a process called capacitation.

FTDMP: A Framework for Protein-Protein, Protein-DNA, and Protein-RNA Docking and Scoring.

FTDMP is a software framework for biomolecular docking and scoring. It can perform docking of subunits containing one or more protein, DNA, or RNA chains, followed by subsequent scoring of the resulting models. FTDMP can also be used for the ranking of user-provided models of biomolecular complexes, generated by any structure prediction method.