Presentation, treatment, and outcomes of chondrosarcoma in young adult patients less than age 50: A case series of ten patients.

Chondrosarcoma is an aggressive bone tumor typically affecting older adults in the 6th and 7th decade. These tumors often present as painful masses in the pelvis, ribs, and long bones and have certain characteristic features on the imaging leading to the diagnosis. The occurrence of these tumors in the young adult population is a rare condition that is not well described.

Butyl Benzyl Phthalate (BBP) disrupts neuromast development in embryonic zebrafish.

Butyl benzyl phthalate (BBP) is found in common household and industrial products world-wide. Phthalates are not covalently bound to plastics and continuously leach into the soil, sediment and aquatic environments. The lateral line system of fish is a mechanosensory system composed of neuromasts essential for survival behaviors including rheotaxis, schooling and predator avoidance.

AMD and Stem Cell-Based Therapies.

Age-related macular degeneration (AMD) is a prevalent and complex disease leading to severe vision loss. Stem cells offer promising prospects for AMD treatment as they can be differentiated into critical retinal cell types that could replace lost host retinal cells or provide trophic support to promote host retinal cell survival. However, challenges such as immune rejection, concerns regarding tumorigenicity, and genomic integrity must be addressed.

Mako robotic-arm-assisted total hip and total knee arthroplasty outcomes in an orthopedic oncology setting: A case series.

Background: The MAKO Robotic-Arm system is a cutting-edge technology which combines both computed tomography (CT) scanning and three-dimensional planning to determine the ideal size and orientation of implants prior to bone resection. It is typically utilized within a general orthopedic setting for joint replacement procedures, such as total joint arthroplasties. However, its use within orthopedic oncology, which contains a much more compromised patient population and more complex surgical treatment, is not well documented within the literature.

Di-butyl phthalate disrupts muscle, motor and sensory neuron development in embryonic zebrafish.

Phthalates are added to plastics to enhance its flexibility, durability and transparency. Phthalates are not covalently bound to plastics and leach into the environment. Phthalates are now pervasive and ubiquitously present in the atmosphere, soil and sediment, surface and wastewater.

The Early History of Heliospheric Science and the Spacecraft That Made It Possible.

Our understanding of the interaction of the large-scale heliosphere with the local interstellar medium (LISM) has undergone a profound change since the very earliest analyses of the problem. In part, the revisions have been a consequence of ever-improving and widening observational results, especially those that identified the entrance of interstellar material and gas into the heliosphere. Accompanying these observations was the identification of the basic underlying physics of how neutral interstellar gas and interstellar charged particles of different energies, up to and including interstellar dust grains, interacted with the temporal flows and electromagnetic fields of the heliosphere.

Anomalous Cosmic Rays and Heliospheric Energetic Particles.

We present a review of Anomalous Cosmic Rays (ACRs), including the history of their discovery and recent insights into their acceleration and transport in the heliosphere. We focus on a few selected topics including a discussion of mechanisms of their acceleration, escape from the heliosphere, their effects on the dynamics of the heliosheath, transport in the inner heliosphere, and their solar cycle dependence. A discussion concerning their name is also presented towards the end of the review.

Local factor H production by human choroidal endothelial cells mitigates complement deposition: implications for macular degeneration.

Activation of the alternative complement pathway is an initiating event in the pathology of age-related macular degeneration (AMD). Unchecked complement activation leads to the formation of a pro-lytic pore, the membrane attack complex (MAC). MAC deposition is observed on the choriocapillaris of AMD patients and likely causes lysis of choroidal endothelial cells (CECs).

Stepwise differentiation and functional characterization of human induced pluripotent stem cell-derived choroidal endothelial cells.

Background: Endothelial cells (ECs) are essential regulators of the vasculature, lining arteries, veins, and capillary beds. While all ECs share a number of structural and molecular features, heterogeneity exists depending on their resident tissue. ECs lining the choriocapillaris in the human eye are lost early in the pathogenesis of age-related macular degeneration (AMD), a common and devastating form of vision loss.

Label-free microfluidic enrichment of photoreceptor cells.

Inherited retinal degenerative disorders such as retinitis pigmentosa and Usher syndrome are characterized by progressive death of photoreceptor cells. To restore vision to patients blinded by these diseases, a stem cell-based photoreceptor cell replacement strategy will likely be required. Although retinal stem cell differentiation protocols suitable for generating photoreceptor cells exist, they often yield a rather heterogenous mixture of cell types.

Bulk and single-cell gene expression analyses reveal aging human choriocapillaris has pro-inflammatory phenotype.

The human choroidal vasculature is subject to age-related structural and gene expression changes implicated in age-related macular degeneration (AMD). In this study, we performed both bulk and single-cell RNA sequencing on infant (n = 4 for bulk experiments, n = 2 for single-cell experiments) and adult (n = 13 for bulk experiments, n = 6 for single-cell experiments) human donors to characterize how choroidal gene expression changes with age. Differential expression analysis revealed that aged choroidal samples were enriched in genes encoding pro-inflammatory transcription factors and leukocyte transendothelial cell migration adhesion proteins.

Turbulence in the Local Interstellar Medium and the Ribbon.

The effects of turbulence in the very local interstellar medium (VLISM) have been proposed by Giacalone & Jokipii (2015) to be important in determining the structure of the () ribbon via particle trapping by magnetic mirroring. We further explore this effect by simulating the motion of charged particles in a turbulent magnetic field superposed on a large-scale mean field, which we consider to be either spatially-uniform or a draped field derived from a 3D MHD simulation. We find that the ribbon is not double-peaked, in contrast to Giacalone & Jokipii (2015).

Probing the energetic particle environment near the Sun.

NASA's Parker Solar Probe mission recently plunged through the inner heliosphere of the Sun to its perihelia, about 24 million kilometres from the Sun. Previous studies farther from the Sun (performed mostly at a distance of 1 astronomical unit) indicate that solar energetic particles are accelerated from a few kiloelectronvolts up to near-relativistic energies via at least two processes: 'impulsive' events, which are usually associated with magnetic reconnection in solar flares and are typically enriched in electrons, helium-3 and heavier ions, and 'gradual' events, which are typically associated with large coronal-mass-ejection-driven shocks and compressions moving through the corona and inner solar wind and are the dominant source of protons with energies between 1 and 10 megaelectronvolts. However, some events show aspects of both processes and the electron-proton ratio is not bimodally distributed, as would be expected if there were only two possible processes.

Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration.

The human retinal pigment epithelium (RPE) and choroid are complex tissues that provide crucial support to the retina. Disease affecting either of these supportive tissues can lead to irreversible blindness in the setting of age-related macular degeneration. In this study, single-cell RNA sequencing was performed on macular and peripheral regions of RPE-choroid from 7 human donor eyes in 2 independent experiments.

Development of a Molecularly Stable Gene Therapy Vector for the Treatment of -Associated X-Linked Retinitis Pigmentosa.

In a screen of 1,000 consecutively ascertained families, we recently found that mutations in the gene are the third most common cause of all inherited retinal disease. As the two most frequent disease-causing genes, and , are far too large to fit into clinically relevant adeno-associated virus (AAV) vectors, is an obvious early target for AAV-based ocular gene therapy. In generating plasmids for this application, we discovered that those containing wild-type sequence, which includes the highly repetitive low complexity region ORF15, were extremely unstable (, they showed consistent accumulation of genomic changes during plasmid propagation).

Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9.

Enhanced S-cone syndrome (ESCS) is caused by recessive mutations in the photoreceptor cell transcription factor . Loss of is characterized by repression of rod photoreceptor cell gene expression, over-expansion of the S-cone photoreceptor cell population, and varying degrees of M- and L-cone photoreceptor cell development. In this study, we developed a CRISPR-based homology-directed repair strategy and corrected two different disease-causing mutations in patient-derived induced pluripotent stem cells (iPSCs) generated from two affected individuals.

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.

Retinitis pigmentosa (RP) is an inherited retinal degenerative disease with severe vision impairment leading to blindness. About 10-15% of RP cases are caused by mutations in the gene, with RPGR mutations accounting for 70% of X-linked RP cases. The mechanism by which RPGR mutations cause photoreceptor cell dysfunction is not well understood.

Generation of an immortalized human choroid endothelial cell line (iChEC-1) using an endothelial cell specific promoter.

Age-related macular degeneration (AMD) is a common cause of blindness worldwide. While recent studies have revealed that the loss of choroidal endothelial cells (ChECs) is critical to the disease pathogenesis of dry AMD, in vitro studies are needed to fully elucidate the disease mechanism. However, these studies remain hindered due to the lack of publically available human ChEC lines.

Visible spectroscopy diagnostics for tungsten source assessment in the WEST tokamak: First measurements.

The present work concerns the measurements obtained with the Tungsten (W) Environment in Steady-state Tokamak (WEST) visible spectroscopy system during the first experimental campaign. This system has been developed in the framework of the WEST project that equipped the existing Tore Supra device with a tungsten divertor in order to test actively cooled tungsten Plasma Facing Components (PFC) in view of preparing for ITER operation. The goal of this diagnostic is to measure the PFC sources and the deuterium recycling with spectral, spatial, and temporal resolution adapted to the predicted power deposition profiles on the objects observed.

Vortical Amplification of the Magnetic Field at an Inward Shock of Supernova Remnant Cassiopeia A.

We present an interpretation of the time variability of the x-ray flux recently reported from a multiepoch campaign of 15 years of observations of the supernova remnant Cassiopeia A by Chandra. We show for the first time quantitatively that the [4.2-6] keV nonthermal flux increase up to 50% traces the growth of the magnetic field due to a vortical amplification mechanism at a reflection inward shock colliding with inner overdensities.

CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration.

Gene correction is a valuable strategy for treating inherited retinal degenerative diseases, a major cause of irreversible blindness worldwide. Single gene defects cause the majority of these retinal dystrophies. Gene augmentation holds great promise if delivered early in the course of the disease, however, many patients carry mutations in genes too large to be packaged into adeno-associated viral vectors and some, when overexpressed via heterologous promoters, induce retinal toxicity.

CRISPR-Cas9-Based Genome Editing of Human Induced Pluripotent Stem Cells.

Human induced pluripotent stem cells (hiPSCs) are the ideal cell source for autologous cell replacement. However, for patients with Mendelian diseases, genetic correction of the original disease-causing mutation is likely required prior to cellular differentiation and transplantation. The emergence of the CRISPR-Cas9 system has revolutionized the field of genome editing.

CRISPR-Cas9-Mediated Correction of the 1.02 kb Common Deletion in in Induced Pluripotent Stem Cells from Patients with Batten Disease.

Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a rare progressive neurodegenerative disorder caused by mutations in . Patients present with early-onset retinal degeneration, followed by epilepsy, progressive motor deficits, cognitive decline, and premature death. Approximately 85% of individuals with Batten disease harbor at least one allele containing a 1.

Carrion fly-derived DNA metabarcoding is an effective tool for mammal surveys: Evidence from a known tropical mammal community.

Metabarcoding of vertebrate DNA derived from carrion flies has been proposed as a promising tool for biodiversity monitoring. To evaluate its efficacy, we conducted metabarcoding surveys of carrion flies on Barro Colorado Island (BCI), Panama, which has a well-known mammal community, and compared our results against diurnal transect counts and camera trapping. We collected 1,084 flies in 29 sampling days, conducted metabarcoding with mammal-specific (16S) and vertebrate-specific (12S) primers, and sequenced amplicons on Illumina MiSeq.

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Purpose: To devise a comprehensive multiplatform genetic testing strategy for inherited retinal disease and to describe its performance in 1000 consecutive families seen by a single clinician.

Design: Retrospective series.

Participants: One thousand consecutive families seen by a single clinician.