loss in neural progenitor cells suppresses translation of ASD/NDD-associated transcripts in an mTORC1- and MNK1/2-reversible fashion.

Tuberous sclerosis complex (TSC) is an inherited neurodevelopmental disorder (NDD) with frequent manifestations of epilepsy and autism spectrum disorder (ASD). TSC is caused by inactivating mutations in or tumor suppressor genes, with encoded proteins hamartin (TSC1) and tuberin (TSC2) forming a functional complex inhibiting mechanistic target of rapamycin complex 1 (mTORC1) signaling. This has led to treatment with allosteric mTORC1 inhibitor rapamycin analogs ("rapalogs") for TSC tumors; however, rapalogs are ineffective for treating neurodevelopmental manifestations.

A Method for Quantifying Back Flexion/Extension from Three Inertial Measurement Units Mounted on a Horse's Withers, Thoracolumbar Region, and Pelvis.

Back mobility is a criterion of well-being in a horse. Veterinarians visually assess the mobility of a horse's back during a locomotor examination. Quantifying it with on-board technology could be a major breakthrough to help them.

Development of a Methodology for Low-Cost 3D Underwater Motion Capture: Application to the Biomechanics of Horse Swimming.

Hydrotherapy has been utilized in horse rehabilitation programs for over four decades. However, a comprehensive description of the swimming cycle of horses is still lacking. One of the challenges in studying this motion is 3D underwater motion capture, which holds potential not only for understanding equine locomotion but also for enhancing human swimming performance.

Asymmetry Thresholds Reflecting the Visual Assessment of Forelimb Lameness on Circles on a Hard Surface.

The assessment of lameness in horses can be aided by objective gait analysis tools. Despite their key role of evaluating a horse at trot on a circle, asymmetry thresholds have not been determined for differentiating between sound and lame gait during this exercise. These thresholds are essential to distinguish physiological asymmetry linked to the circle from pathological asymmetry linked to lameness.

Translatome analysis of tuberous sclerosis complex 1 patient-derived neural progenitor cells reveals rapamycin-dependent and independent alterations.

Background: Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder caused by mutations in the TSC1 or TSC2 genes, with patients often exhibiting neurodevelopmental (ND) manifestations termed TSC-associated neuropsychiatric disorders (TAND) including autism spectrum disorder (ASD) and intellectual disability. Hamartin (TSC1) and tuberin (TSC2) proteins form a complex inhibiting mechanistic target of rapamycin complex 1 (mTORC1) signaling. Loss of TSC1 or TSC2 activates mTORC1 that, among several targets, controls protein synthesis by inhibiting translational repressor eIF4E-binding proteins.

Translatome analysis of Tuberous Sclerosis Complex-1 patient-derived neural progenitor cells reveal rapamycin-dependent and independent alterations.

Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder caused by mutations in or genes, with patients often exhibiting neurodevelopmental (ND) manifestations termed TSC-associated neuropsychiatric disorders (TAND) including autism spectrum disorder (ASD). The hamartin-tuberin (TSC1-TSC2) protein complex inactivates mechanistic target of rapamycin complex 1 (mTORC1) signaling, leading to increased protein synthesis via inactivation of translational repressor eIF4E-binding proteins (4E-BPs). In -null neural progenitor cells (NPCs), we previously reported early ND phenotypic changes, including increased proliferation/altered neurite outgrowth, which were unaffected by mTORC1-inhibitor rapamycin.

Short communication: Variability of response to feed restriction in lactating Charolais cows.

Involuntary temporary feed restriction on commercial cattle is likely to become more frequent with forage shortages in the context of climate change. If general consequences of feed restriction have been the subject of an abundant scientific literature, focus on the inter-individual variability of response is scarce. Here, we explore the response profile in terms of BW, body condition score, milk production, calf weight and cyclicity resumption of 293 lactations from 169 Charolais cows during a winter feed restriction in early lactation and its subsequent recovery at grazing using a principal component analysis followed by a hierarchical clustering on principal component.

A Pilot Study on the Inter-Operator Reproducibility of a Wireless Sensors-Based System for Quantifying Gait Asymmetries in Horses.

Repeatability and reproducibility of any measuring system must be evaluated to assess possible limitations for its use. The objective of this study was to establish the repeatability and the inter-operator reproducibility of a sensors-based system (EQUISYM) for quantifying gait asymmetries in horses..

Stance Phase Detection by Inertial Measurement Unit Placed on the Metacarpus of Horses Trotting on Hard and Soft Straight Lines and Circles.

The development of on-board technologies has enabled the development of quantification systems to monitor equine locomotion parameters. Their relevance among others relies on their ability to determine specific locomotor events such as foot-on and heel-off events. The objective of this study was to compare the accuracy of different methods for an automatic gait events detection from inertial measurement units (IMUs).

The Protraction and Retraction Angles of Horse Limbs: An Estimation during Trotting Using Inertial Sensors.

The protraction and retraction angles of horse limbs are important in the analysis of horse locomotion. This study explored two methods from an IMU positioned on the canon bone of eight horses to estimate these angles. Each method was based on a hypothesis in order to define the moment corresponding with the verticality of the canon bone: (i) the canon bone is in a vertical position at 50% of the stance phase or (ii) the verticality of the canon bone corresponds with the moment when the horse's withers reach their lowest point.

Invited review: Disentangling residual feed intake-Insights and approaches to make it more fit for purpose in the modern context.

Residual feed intake (RFI) is an increasingly used trait to analyze feed efficiency in livestock, and in some sectors such as dairy cattle, it is one of the most frequently used traits. Although the principle for calculating RFI is always the same (i.e.

Portable neuromodulation induces neuroplasticity to re-activate motor function recovery from brain injury: a high-density MEG case study.

Background: In a recent high-profile case study, we used functional magnetic resonance imaging (fMRI) to monitor improvements in motor function related to neuroplasticity following rehabilitation for severe traumatic brain injury (TBI). The findings demonstrated that motor function improvements can occur years beyond current established limits. The current study extends the functional imaging investigation to characterize neuromodulation effects on neuroplasticity to further push the limits.

Diagnosis of exon 12-positive polycythemia vera rescued by NGS.

A V617F-negative polycythemia associated with low serum epo needs to be tested for an exon 12 mutation. When negative, due to potential serious complications in PV, a next generation sequencing is necessary to rule out false negative results.

Comparison of Trotting Stance Detection Methods from an Inertial Measurement Unit Mounted on the Horse's Limb.

The development of on-board sensors, such as inertial measurement units (IMU), has made it possible to develop new methods for analyzing horse locomotion to detect lameness. The detection of spatiotemporal events is one of the keystones in the analysis of horse locomotion. This study assesses the performance of four methods for detecting and They were developed from an IMU positioned on the canon bone of eight horses during trotting recording on a treadmill and compared to a standard gold method based on motion capture.

A Method to Estimate Horse Speed per Stride from One IMU with a Machine Learning Method.

With the emergence of numerical sensors in sports, there is an increasing need for tools and methods to compute objective motion parameters with great accuracy. In particular, inertial measurement units are increasingly used in the clinical domain or the sports one to estimate spatiotemporal parameters. The purpose of the present study was to develop a model that can be included in a smart device in order to estimate the horse speed per stride from accelerometric and gyroscopic data without the use of a global positioning system, enabling the use of such a tool in both indoor and outdoor conditions.

TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling.

Background: Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder with frequent occurrence of epilepsy, autism spectrum disorder (ASD), intellectual disability (ID), and tumors in multiple organs. The aberrant activation of mTORC1 in TSC has led to treatment with mTORC1 inhibitor rapamycin as a lifelong therapy for tumors, but TSC-associated neurocognitive manifestations remain unaffected by rapamycin.

Methods: Here, we generated patient-specific, induced pluripotent stem cells (iPSCs) from a TSC patient with a heterozygous, germline, nonsense mutation in exon 15 of and established an isogenic set of heterozygous (Het), null and corrected wildtype (Corr-WT) iPSCs using CRISPR/Cas9-mediated gene editing.

Estimation of genetic parameters for mid-infrared-predicted lactoferrin and milk fat globule size in Holstein cattle.

Lactoferrin (LF) and milk fat globule (MFG) are 2 biologically active components of milk with great economical and nutritional value in the dairy industry. The objectives of this study were to estimate (1) the heritability of mid-infrared (MIR)-predicted LF and MFG size (MFGS) and (2) the genetic correlations between predicted LF and MFGS with milk, fat, and protein yields, fat and protein percentages, and somatic cell score in first-parity Canadian Holstein cattle. A total of 109,029 test-day records from 22,432 cows and 1,572 farms for MIR-predicted LF and 109,212 test-day records from 22,424 cows and 1,559 farms for MIR-predicted MFGS were used in the analyses.

Genetic parameters and genome-wide association study regarding feed efficiency and slaughter traits in Charolais cows.

Residual energy intake (REI) on two successive diets (hay and maize based) and slaughter traits, including visceral organs, were phenotyped in 584 adult purebred Charolais cows. To investigate the relationships between these traits and their genetic determinism, we first estimated the genetic parameters, including correlations, using REML modeling under WOMBAT software. The animals were then genotyped on the BovineSNP50 SNPchip before being imputed to the 600K density and genome wide association study was performed with GCTA software.

Genetic analysis of subclinical mastitis in early lactation of heifers using both linear and threshold models.

Subclinical mastitis (SCM) causes economic losses for dairy producers by reducing milk production and leading to higher incidence of clinical mastitis and premature culling. The prevalence of SCM in first-lactation heifers is highest during early lactation. The objective of this study was to estimate genetic parameters for SCM in early lactation in first-parity Holsteins.

Genome-wide association mapping for type and mammary health traits in French dairy goats identifies a pleiotropic region on chromosome 19 in the Saanen breed.

Type traits and mammary health traits are important to dairy ruminant breeding because they influence animal health, milking ability, and longevity, as well as the economic sustainability of farms. The availability of the genomic sequence and a single nucleotide polymorphism chip in goats has opened up new fields of investigation to better understand the genes and mechanisms that underlie such complex traits and to be able to select them. Our objective was to perform a genome-wide association study in dairy goats for 11 type traits and somatic cell count (SCC) as proxies for mastitis resistance.

Author Correction: A genome scan for milk production traits in dairy goats reveals two new mutations in Dgat1 reducing milk fat content.

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.

A 100-Year Review: Identification and genetic selection of economically important traits in dairy cattle.

Over the past 100 yr, the range of traits considered for genetic selection in dairy cattle populations has progressed to meet the demands of both industry and society. At the turn of the 20th century, dairy farmers were interested in increasing milk production; however, a systematic strategy for selection was not available. Organized milk performance recording took shape, followed quickly by conformation scoring.