Long-Term Visual Field Progression in X-Linked Retinitis Pigmentosa Patients.

We present an image that illustrates long-term visual field progression in patients with X-linked retinitis pigmentosa (XLRP) due to the retinitis pigmentosa GTPase regulator (RPGR) and retinitis pigmentosa 2 protein (RP2) gene variants. Longitudinal data from 84 genetically confirmed XLRP patients were collected from the Danish Retinitis Pigmentosa Registry, spanning the years 1948 to 2014. A visual field summation image revealed the characteristic pattern of retinal degeneration and visual field preservation in XLRP.

Classification of Plant-Based Drinks Based on Volatile Compounds.

The increasing popularity of plant-based drinks has led to an expanded consumer market. However, available quality control technologies for plant-based drinks are time-consuming and expensive. Two alternative quality control methods, gas chromatography with ion mobility spectrometry (GC-IMS) and an electronic nose, were used to assess 111 plant-based drink samples.

Comparison of Untargeted and Markers Analysis of Volatile Organic Compounds with SIFT-MS and SPME-GC-MS to Assess Tea Traceability.

Tea is one of the most consumed beverages in the world and presents a great aromatic diversity depending on the origin of the production and the transformation process. Volatile organic compounds (VOCs) greatly contribute to the sensory perception of tea and are excellent markers for traceability and quality. In this work, we analyzed the volatile organic compounds (VOCs) emitted by twenty-six perfectly traced samples of tea with two analytical techniques and two data treatment strategies.

Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in -Related Disease.

: Disruption of results in microphthalmia with linear skin lesions (MLS) characterized by microphthalmia/anophthalmia, corneal opacity, aplastic skin lesions, variable central nervous system and cardiac anomalies, intellectual disability, and poor growth in heterozygous females. Structural variants consisting of chromosomal rearrangements or deletions are the most common variant type, but a small number of intragenic variants have been reported. : Exome sequencing identified variants affecting .

Unearthing Genetic Treasures: Exploring Lost Autochthonous Varieties in Lebanon.

Background/objectives: Lebanon, one of the oldest centers of grapevine ( L.) cultivation, is home to a rich diversity of local grape varieties. This biodiversity is linked to the country's unique topography and millennia of cultural history.

An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New Gene Variants.

Background/objectives: Biallelic mutations in the gene are associated with a rare genetic disease known as infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). In this study, we describe a new case carrying a previously identified mutation, provide an updated analysis of the relative frequencies of the clinical features across all published cases (including the three latest studies), and perform a bioinformatics analysis of the newly identified PTRH2 protein variants from a structural perspective.

Methods: Clinical examination of the patients was carried out, and genetic testing was performed using a genome sequencing strategy.

Effects of Temperature and Random Forces in Phase Transformation of Multi-Stable Systems.

Multi-stable behavior at the microscopic length-scale is fundamental for phase transformation phenomena observed in many materials. These phenomena can be driven not only by external mechanical forces but are also crucially influenced by disorder and thermal fluctuations. Disorder, arising from structural defects or fluctuations in external stimuli, disrupts the homogeneity of the material and can significantly alter the system's response, often leading to the suppression of cooperativity in the phase transition.

The Two-Spin Enigma: From the Helium Atom to Quantum Ontology.

The purpose of this article is to provide a novel approach and justification of the idea that classical physics and quantum physics can neither function nor even be conceived without the other-in line with ideas attributed to, e.g., Niels Bohr or Lev Landau.

Synthesis of Temporin-SHa Retro Analogs with Lysine Addition/Substitution and Antibiotic Conjugation to Enhance Antibacterial, Antifungal, and Anticancer Activities.

In the face of rising the threat of resistant pathogens, antimicrobial peptides (AMPs) offer a viable alternative to the current challenge due to their broad-spectrum activity. This study focuses on enhancing the efficacy of temporin-SHa derived NST-2 peptide (), which is known for its antimicrobial and anticancer activities. We synthesized new analogs of using three strategies, i.

Dynamic PK/PD Infection Models for the Development and Optimisation of Antimicrobial Regimens: A Narrative Review.

The antimicrobial concentration-time profile in humans affects antimicrobial activity, and as such, it is critical for preclinical infection models to simulate human-like dynamic concentration-time profiles for maximal translatability. This review discusses the setup, principle, and application of various dynamic PK/PD infection models commonly used in the development and optimisation of antimicrobial treatment regimens. It covers the commonly used dynamic infection models, including the one-compartment model, hollow fibre infection model, biofilm model, bladder infection model, and aspergillus infection model.

From Cure to Prevention: Doxycycline's Potential in Prophylaxis for Sexually Transmitted Infections.

Over the past two decades, the global incidence of sexually transmitted infections (STIs) such as gonorrhea, chlamydia, and syphilis have increased significantly, particularly among cisgender men who have sex with men (MSM) and transgender women (TGW). This rise in STIs has spurred interest in new preventive measures, including doxycycline post-exposure prophylaxis (DoxyPEP). Clinical trials in the United States and France have demonstrated the effectiveness of DoxyPEP in reducing both chlamydia and syphilis incidence among MSM and TGW; although, its efficacy against gonorrhea remains limited, and it was further found to be ineffective among cisgender women in Kenya.

National Cohort of Compassionate Use of Meropenem-Vaborbactam: No Benefit over Meropenem for .

Background: Meropenem-vaborbactam (MEM-VAB) is a novel carbapenem-beta-lactamase-inhibitor combination that demonstrates activity against carbapenem-resistant (CR) Gram-negative bacteria, and more specifically KPC-producers, since vaborbactam is an effective inhibitor of KPC enzymes in vitro. This study aimed to describe the initial uses and efficacy of MEM-VAB for compassionate treatment during the first 21 months following its early access in France.

Method: A national multicenter retrospective study was conducted, including all patients who received at least one dose of MEM-VAB between 20 July 2020, and 5 April 2022.

A New Three-Hit Mouse Model of Neurodevelopmental Disorder with Cognitive Impairments and Persistent Sociability Deficits.

Background/objectives: Cognitive deficits and negative symptoms associated with schizophrenia are poorly managed by current antipsychotics. In order to develop effective treatments, refining animal models of neurodevelopmental disorders is essential.

Methods: To address their multifactorial etiology, we developed a new three-hit mouse model based on the hypoglutamatergic hypothesis of the pathology combined with early stress, offering strong construct validity.

At the Frontiers of Neurorehabilitation, Series II: Advancing Neurorehabilitation Through Patient-Centered Undogmatic Innovative Approaches.

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Hebbian Optocontrol of Cross-Modal Disruptive Reading in Increasing Acoustic Noise in an Adult with Developmental Coordination Disorder: A Case Report.

Acoustic noise is known to perturb reading for good readers, including children and adults. This external acoustic noise interfering at the multimodal areas in the brain causes difficulties reducing reading and writing performances. Moreover, it is known that people with developmental coordination disorder (DCD) and dyslexia have reading deficits even in the absence of acoustic noise.

An Eye Tracker Study on the Understanding of Implicitness in French Elementary School Children.

Background: The aim of this study is to use an eye tracker to compare the understanding of three forms of implicitness (i.e., presupposition, conversational implicatures, and irony) in 139 pupils from the first to the fifth year of elementary school.

Suppression of MT5-MMP Reveals Early Modulation of Alzheimer's Pathogenic Events in Primary Neuronal Cultures of 5xFAD Mice.

We previously reported that membrane-type 5-matrix metalloproteinase (MT5-MMP) deficiency not only reduces pathological hallmarks of Alzheimer's disease (AD) in 5xFAD (Tg) mice in vivo but also impairs interleukin-1 beta (IL-1β)-mediated neuroinflammation and Aβ production in primary Tg immature neural cell cultures after 11 days in vitro. We now investigate the effect of MT5-MMP on incipient pathogenic pathways that are activated in cortical primary cultures at 21-24 days in vitro (DIV), during which time neurons are organized into a functional mature network. Using wild-type (WT), MT5-MMP (MT5), 5xFAD (Tg), and 5xFADxMT5-MMP (TgMT5) mice, we generated primary neuronal cultures that were exposed to IL-1β and/or different proteolytic system inhibitors.

In-Depth Phenotyping of -Related Disease and Its Role in 17q12 Genomic Disorder.

Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in . This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting several organs, including the heart; a living girl with tetralogy of Fallot, global developmental delay, behavioral abnormalities, and atypic electroencephalography (EEG) without epilepsy; a girl with early-onset, treatment-resistant seizures, developmental regression, and recurrent infections, that ultimately passed away prematurely due to pneumonia.

Factors Affecting the Population of Excited Charge Transfer States in Adenine/Guanine Dinucleotides: A Joint Computational and Transient Absorption Study.

There is compelling evidence that the absorption of low-energy UV radiation directly by DNA in solution generates guanine radicals with quantum yields that are strongly dependent on the secondary structure. Key players in this unexpected phenomenon are the photo-induced charge transfer () states, in which an electric charge has been transferred from one nucleobase to another. The present work examines the factors affecting the population of these states during electronic relaxation.

Per-Irradiation Monitoring by kV-2D Acquisitions in Stereotactic Treatment of Spinal and Non-Spinal Bony Metastases Using an On-Board Imager of a Linear Accelerator.

Background/objectives: An on-board imager on a linear accelerator allows the acquisition of kV-2D images during irradiation. Overlaying specific structures on these images enables the visual verification of movement at regular frequencies. Our aim was to validate this tracking method for the stereotactic treatment of bone metastases.

Targeting of Non-Classical Human Leukocyte Antigens as Novel Therapeutic Strategies in Cancer.

Human leukocyte antigens (HLAs) are essential regulators of immune responses against cancer, with classical HLAs well-documented for their role in tumor recognition and immune surveillance. In recent years, non-classical HLAs-including HLA-E, HLA-F, HLA-G, and HLA-H-have emerged as critical players in the immune landscape of cancer due to their diverse and less conventional functions in immune modulation. These molecules exhibit unique mechanisms that enable tumors to escape immune detection, promote tumor progression, and contribute to therapeutic resistance.

Evidences on the Use of Hypofractionation in Postoperative/Salvage Radiotherapy for Prostate Cancer: Systematic Review of the Literature and Recent Developments.

Background: Radical prostatectomy (RP) is one possible curative treatment for localized prostate cancer. Despite that, up to 40% of patients will later relapse. Currently, post-operative radiotherapy (PORT) courses deliver 1.

Evaluation of the Learning Curve Threshold in Robot-Assisted Lung Cancer Surgery: A Nationwide Population-Based Study.

Background: Recent publications suggest that the threshold for validation of the learning curve is 25 procedures. The aim of this study was to evaluate this threshold using another rarely used method, based on a composite quality indicator.

Methods: We included all patients from the French medico-administrative database receiving robot-assisted surgery for lung cancer, with a focus on hospitals performing at least 25 procedures over the period 2019-2022.

Impact of Face Mask-Wearing on Quality of Life in Post-Surgical Oral Cancer Patients: A Cross-Sectional Study.

Treatments for oral squamous cell carcinomas (OSCCs) often result in significant aesthetic and functional issues, impacting patients' quality of life (QoL). The COVID-19 pandemic's mask mandates may have provided psychosocial benefits by concealing facial disfigurements, potentially reducing stigma. This study aimed to assess the impact of mask-wearing on the QoL of patients surgically treated for OSCC.

Inbreeding and Gallbladder Cancer Risk: Homozygosity Associations Adjusted for Indigenous American Ancestry, BMI, and Genetic Risk of Gallstone Disease.

Latin Americans have a rich genetic make-up that translates into heterogeneous fractions of the autosomal genome in runs of homozygosity (F) and heterogeneous types and proportions of indigenous American ancestry. While autozygosity has been linked to several human diseases, very little is known about the relationship between inbreeding, genetic ancestry, and cancer risk in Latin Americans. Chile has one of the highest incidences of gallbladder cancer (GBC) in the world, and we investigated the association between inbreeding, GBC, gallstone disease (GSD), and body mass index (BMI) in 4029 genetically admixed Chileans.