Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.

Purpose: To update knowledge on bestrophin-1 structure and function with the aim of assessing the pathogenicity of variants reported in the Leiden Open Variation Database (LOVD) and in a large French cohort of bestrophinopathies.

Methods: All unique variants reported in the latest version (October 2024) of the BEST1-LOVD database were uploaded and curated. We described all BEST1 variants identified in French patients analyzed at Lille University Hospital, between 2008 and 2024.

Intrafamilial variability of phenotype in CACNA2D4-associated retinal dysfunction: more or less.

Introduction: Retinal dysfunction associated with CACNA2D4 gene defects is a rare disorder of photoreceptor to bipolar cell signaling. We report two affected siblings presenting a surprising disparity of retinal involvement.

Materials And Methods: Patients underwent complete ocular examination, multimodal fundus imaging, and full-field electroretinography (ffERG).

Negative Emotional Eating Behaviour Is Associated With Decreased Masticatory Function.

Objective: The aim of the study was to measure electromyographic (EMG) parameters of masticatory muscle activity and evaluate bolus properties using an agar chewing test in emotional eaters.

Methods: Untrained participants (83 women and 46 men, mean age 32.4 ± 8.

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

Recessive RPE65-related retinopathy is an inherited retinal disease (IRD) that is a well-established target for gene therapy. Dominant RPE65-related retinopathy, however, due to Irish founder variant p.(D477G), is extremely rare.

Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa.

Purpose: Retinitis pigmentosa (RP) is a genetically heterogeneous group of retinal degenerative disorders characterized by the loss of rod and cone photoreceptors, leading to visual impairment and blindness. To date, to our knowledge, X-linked RP has been associated with variants in 3 genes (RPGR, RP2, and OFD1), whereas genetic defects at 3 loci (RP6, RP24, and RP34) are yet unidentified. The aim of this study was to identify a novel candidate gene underlying X-linked RP.

The association between sleep timing characteristics and food addiction in adolescents.

Previous research has repeatedly shown that social jetlag is accompanied by metabolic disorders and obesity. However, the mechanism of association between these phenomena has not been sufficiently studied. This study aims to test the hypothesis that social jetlag is associated with an increased incidence of eating disorders and thus increases the risk of metabolic disorders.

Voretigene neparvovec in RPE65-related inherited retinal dystrophy: the 1-year real-world study LIGHT.

Background: This retrospective real-world study evaluated the effectiveness and safety of subretinal voretigene neparvovec (VN) in French patients (six children, six adults) with inherited retinal dystrophies.

Methods: Data were collected from medical records for the year following bilateral treatment with subretinal VN. Functional vision was assessed using the Streetlab mobility course with obstacles.

Texture Perception and Chewing of Agar Gel by People with Different Sensitivity to Hardness.

Hardness is one of the dominant sensory characteristics of food. This study estimated the effect of sensitivity to hardness on the texture perception and chewing function using 2, 4, and 6% agar gels. Increasing the concentration of agar resulted in an increase in gel hardness and springiness, measured by texture profile analysis.

Visual Functions in Patients With Leber Hereditary Optic Neuropathy.

Background: Most of the data on visual functions in Leber hereditary optic neuropathy (LHON) is based on patient questionnaires. Our study assessed the impact of LHON on visual function by testing facial recognition and execution of purposeful actions.

Methods: Twelve participants with LHON with central scotoma ranging from 5° to 20° and 12 unaffected age-matched controls were involved in our study.

Antibacterial effect of new photocatalytically active "complex oxides/PMMA" composites under visible-light irradiation.

New photocatalytic materials based on complex oxides and a widely used and cheap polymer (PMMA) have been prepared. Among complex oxides previously investigated, the following have been used-RbTeWO, CsTeMoO, CsVTeO, NaVMoO, KVMoO. For comparison, the binary oxides TiO and WO were used.

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

Usher syndrome (USH) is the most common cause of deafblindness. USH is autosomal recessively inherited and characterized by rod-cone dystrophy or retinitis pigmentosa (RP), often accompanied by sensorineural hearing loss. Variants in >15 genes have been identified as causative for clinically and genetically distinct subtypes.

Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination.

Introduction: Spastic paraplegia (SPG) is a heterogenous group of neurodegenerative disorders, that may include ocular involvement. Here we report the clinical data of a patient with late-onset Kjellin syndrome, a peculiar form of hereditary SPG with macular dystrophy.

Materials And Methods: Clinical, functional and multimodal retinal imaging data were collected.

The Positive Association between Melatonin-Containing Food Consumption and Older Adult Life Satisfaction, Psychoemotional State, and Cognitive Function.

The purpose of this study was to test the hypothesis that melatonin-containing food (FMT) consumption is associated with a better sleep schedule and cognitive and psychoemotional state in older adults. A cross-sectional study of 557 (79% females) older adults living in the community with a mean age of 68.9 ± 7.

Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.

Background: Kabuki Syndrome is a rare and genetically heterogenous condition with both ophthalmic and systemic complications and typical facial features. We detail the macular phenotype in two unrelated patients with Kabuki syndrome due to de novo nonsense variants in KMT2D, one novel. A follow-up of 10 years is reported.

Association of Chrononutrition Indices with Anthropometric Parameters, Academic Performance, and Psychoemotional State of Adolescents: A Cross-Sectional Study.

Adolescents are an at-risk group for circadian misalignment. The contribution of sleep-wake rhythm instability to the psychoemotional, cognitive, and weight disorders of adolescents has been studied in sufficient detail. At the same time, there is insufficient information about the association between chrononutrition indices and the well-being of adolescents.

The Association between Melatonin-Containing Foods Consumption and Students' Sleep-Wake Rhythm, Psychoemotional, and Anthropometric Characteristics: A Semi-Quantitative Analysis and Hypothetical Application.

Food is an important source of melatonin (MT), which belongs to a group known as chronobiotics, a class of substances that affect the circadian system. Currently, no studies have been conducted on how the consumption of foods containing MT (FMT) is associated with indicators characterizing the human circadian system. In this study, we tested the hypothesis that FMT consumption is associated with chronotype and social jetlag.

Mutational Spectrum, Ocular and Olfactory Phenotypes of -Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.

gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with -associated RP. A cross-sectional case series was conducted at two ophthalmic genetics referral centers.

Afternoon school shift is associated with increased risk of overweight/obesity in 11-14-year-old females with early and intermediate chronotype.

Objective: The purpose of this study was to compare the anthropometric and sleep-wake rhythm characteristics of schoolchildren that attend school in morning and afternoon school shifts.

Methods: We recruited 18 481 individuals (females: 56.4%) aged 11 to 18 years old with an average age of 14.

Effect of Hogweed Pectin on Rheological, Mechanical, and Sensory Properties of Apple Pectin Hydrogel.

This study aims to develop hydrogels from apple pectin (AP) and hogweed pectin (HP) in multiple ratios (4:0; 3:1; 2:2; 1:3; and 0:4) using ionotropic gelling with calcium gluconate. Rheological and textural analyses, electromyography, a sensory analysis, and the digestibility of the hydrogels were determined. Increasing the HP content in the mixed hydrogel increased its strength.

Shedding light on myopia by studying complete congenital stationary night blindness.

Myopia is the most common eye disorder, caused by heterogeneous genetic and environmental factors. Rare progressive and stationary inherited retinal disorders are often associated with high myopia. Genes implicated in myopia encode proteins involved in a variety of biological processes including eye morphogenesis, extracellular matrix organization, visual perception, circadian rhythms, and retinal signaling.

Polysaccharides of : Extraction, Structural Characterization and Antioxidant Activity.

The above-ground part of the was found to contain ~13% (/) of polysaccharides extractable with water and aqueous solutions of ammonium oxalate and sodium carbonate. The fractions extracted with aqueous sodium carbonate solutions had the highest yield. The polysaccharides of majority fractions are characterized by similar monosaccharide composition; namely, galacturonic acid and arabinose residues are the principal components of their carbohydrate chains.