Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport Syndrome.

Background And Hypothesis: Unlike X-linked or autosomal recessive Alport Syndrome, no clear genotype/phenotype correlation has yet been demonstrated in patients carrying a single variant of COL4A3 or COL4A4.

Methods: We carried out a multicenter retrospective study to assess the risk factors involved in renal survival in patients presenting a single pathogenic variant on COL4A3 or COL4A4.

Results: 97 patients presenting a single pathogenic variant of COL4A3 or COL4A4 were included.

Melting Behavior of Compression Molded Poly(ester amide) from 2,5-Furandicarboxylic Acid.

PEA 46 is a biobased polymer with promising properties for sustainable packaging applications, which can be obtained via polymerization of a furan 2,5-dicarboxylic acid (2,5-FDCA) derivative and a diol monomer containing internal amide bonds (46 amido diol). In the literature, PEA 46 showed a complex series of thermal transitions during DSC scans. For this reason, in this initial exploratory study PEA 46 was subjected to compression molding and the melting behavior of film samples was investigated with parallel DSC and WAXS analyses.

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.

Challenging the narrative of alport syndrome spectrum: no link with cystic phenotype.

Background: Alport Syndromes (AS) are the second leading genetic cause of Kidney Failure (KF). Whether multiple kidney cysts (MKC) phenotype belongs to the AS spectrum remains debated.

Methods: This multicenter retrospective study focused on patients genotyped with pathogenic COL4A3, COL4A4, or COL4A5 variants (classified as ACMG-AMP 4 or 5) between January 2011 and January 2023 across four French university hospitals.

Investigating the C2 Modulation of the Imidazo[1,2-a]pyrazine-Based Hit Compound CTN1122: Synthesis, in vitro Antileishmanial Activity, Cytotoxicity and Casein Kinase 1 Inhibition.

Our research group previously discovered CTN1122, an imidazo[1,2-a]pyrazine compound with promising antileishmanial activity against intramacrophage amastigotes of Leishmania major and L. donovani strains. CTN1122 effectively targets Leishmania casein kinase 1 (L-CK1.

Reactivity Ratios of Biobased Dialkyl Itaconate Radical Polymerizations Derived from In-Line NMR Spectroscopy and Size-Exclusion Chromatography.

Itaconates available from renewable resources constitute a group of monomers that are used in several types of polymerizations. Their use in free-radical polymerizations (FRPs) is still limited due to the low propagation rate coefficients resulting in low polymerization rates and the occurrence of depropagation which is responsible for limited monomer conversion. Since FRP is considered very robust with few requirements concerning monomer purity, it is still interesting to investigate how itaconate FRP may become feasible.

Novel Thiazole-Fused [4,5-] or [5,4-]Quinazolin-8-ones and Their Quinazoline Analogues: Synthesis and Biological Evaluation.

In connection with previous work on V-shaped polycyclic thiazolo[5,4-]quinazolin-9-one and [5,4-]quinazoline derivatives that can modulate the activity of various kinases, the synthesis of straight thiazole-fused [4,5-] or [5,4-]quinazolin-8-ones and quinazoline derivatives hitherto undescribed was envisioned. An innovative protocol allowed to obtain the target structures. The synthesis of inverted thiazolo[4,5-] and [5,4-]quinazolin-8-one derivatives was also explored with the aim of comparing biological results.

New Fusarochromanone Derivatives from the Marine Fungus UBOCC-A-117302.

Two new fusarochromanone derivatives, deacetylfusarochromene () and deacetamidofusarochrom-2',3-diene (), along with the previously reported metabolites fusarochromanone TDP-2 (), fusarochromene (), 2,2-dimethyl-5-amino-6-(2'-ene-4'-hydroxylbutyryl)-4-chromone (), fusarochromanone (), (-)-chrysogine (), and equisetin (), were isolated from the marine fungus UBOCC-A-117302. The structures of the compounds were determined by extensive spectrometric (HRMS) and spectroscopic (1D and 2D NMR) analyses, as well as specific rotation. Among them, and showed inhibition of three protein kinases with IC values ranging from 1.

An Improved Fire and Smoke Detection Method Based on YOLOv8n for Smart Factories.

Factories play a crucial role in economic and social development. However, fire disasters in factories greatly threaten both human lives and properties. Previous studies about fire detection using deep learning mostly focused on wildfire detection and ignored the fires that happened in factories.

Toward acid- and heparin-free dialysis: the regional anticoagulation approach.

Background: In chronic intermittent hemodialysis, heparin is the standard anticoagulant as is the use of acid-containing dialysate. Regional anticoagulation (RA) with a calcium-free, citrate-containing dialysate has been developed. We compared RA using a calcium-free, citrate-free dialysate, routinely used in our center, versus systemic heparinization.

The TOPOVIBL meiotic DSB formation protein: new insights from its biochemical and structural characterization.

The TOPOVIL complex catalyzes the formation of DNA double strand breaks (DSB) that initiate meiotic homologous recombination, an essential step for chromosome segregation and genetic diversity during gamete production. TOPOVIL is composed of two subunits (SPO11 and TOPOVIBL) and is evolutionarily related to the archaeal TopoVI topoisomerase complex. SPO11 is the TopoVIA subunit orthologue and carries the DSB formation catalytic activity.

A method for calculating fall risk parameters from discrete stride time series regardless of sensor placement.

Background: To complement traditional clinical fall risk assessments, research is oriented towards adding real-life gait-related fall risk parameters (FRP) using inertial sensors fixed to a specific body position. While fixing the sensor position can facilitate data processing, it can reduce user compliance. A newly proposed step detection method, Smartstep, has been proven to be robust against sensor position and real-life challenges.

The Potential Role of Wearable Inertial Sensors in Laboring Women with Walking Epidural Analgesia.

There is a growing interest in wearable inertial sensors to monitor and analyze the movements of pregnant women. The noninvasive and discrete nature of these sensors, integrated into devices accumulating large datasets, offers a unique opportunity to study the dynamic changes in movement patterns during the rapid physical transformations induced by pregnancy. However, the final cut of the third trimester of pregnancy, particularly the first stage of labor up to delivery, remains underexplored.

Agreement between a markerless and a marker-based motion capture systems for balance related quantities.

Balance studies usually focus on quantities describing the global body motion. Assessing such quantities using classical marker-based approach can be tedious and modify the participant's behaviour. The recent development of markerless motion capture methods could bypass the issues related to the use of markers.

"MeiQuant": An Integrated Tool for Analyzing Meiotic Prophase I Spread Images.

Immunocytochemical analysis of meiotic proteins on mouse chromosome spreads is one method of choice to study prophase I chromosome organization and homologous recombination. In recent decades, the development of microscopic approaches led to the production of a large number of images that monitor fluorescent proteins, defined as fluorescent objects, and a major challenge facing the community is the deep analysis of these fluorescent objects (measurement of object length, intensity, distance between objects, as well as foci identification, counting, and colocalization). We propose a set of tools designed from the macro language of the widely used image analysis software ImageJ (Schindelin et al.

Learning modifies attention during bumblebee visual search.

Abstract: The role of visual search during bee foraging is relatively understudied compared to the choices made by bees. As bees learn about rewards, we predicted that visual search would be modified to prioritise rewarding flowers. To test this, we ran an experiment testing how bee search differs in the initial and later part of training as they learn about flowers with either higher- or lower-quality rewards.

Embryology of the vertebral artery and variants of the adult.

The vertebral arteries represent in the adult the main blood supply of the posterior cranial fossa, even if they appear relatively late during the embryological life. We reviewed all the most important steps of the vertebral artery's embryological development and the most common variants that can occur in the adult. The aim of this review is to summarize the main events of the development of this artery and to give an embryological explication for the most common variants of this artery.