Estudio macroscópico, radiológico y histológico de una fractura tibial de Myotragus balearicus

X Congreso Nacional de Paleopatología. Univesidad Autónoma de Madrid, septiembre de 200

Análisis antropológico de los restos humanos hallados en la Tumba U.20 de la Necrópolis de Kom al-Ahmar / Sharuna (VI Dinastía) durante las campañas 2006/2007/2008

X Congreso Nacional de Paleopatología. Univesidad Autónoma de Madrid, septiembre de 200

Detecting the footprint of selection on the genomes of Murciano-Granadina goats

Artificial selection is one of the major forces modifying the genetic composition of livestock populations. Identifying genes under selection could be useful to elucidate their impact on phenotypic variation. We aimed to identify genomic regions targeted by selection for dairy and pigmentation traits in Murciano-Granadina goats. Performance of a selection scan based on the integrated haplotype score test in a population of 1183 Murciano-Granadina goats resulted in the identification of 77 candidate genomic regions/SNPs. The most significant selective sweeps mapped to chromosomes 1 (69.86 Mb), 4 (41.80–49.95 Mb), 11 (65.74 Mb), 12 (31.24 and 52.51 Mb), 17 (34.76–37.67 Mb), 22 (31.75 Mb), and 26 (26.69–31.05 Mb). By using previously generated RNA-Seq data, we built a catalogue of 6414 genes that are differentially expressed across goat lactation (i.e. 78 days post-partum, early lactation; 216 days post-partum, late lactation; 285 days post-partum, dry period). Interestingly, 183 of these genes mapped to selective sweeps and several of them display functions related with lipid, protein, and carbohydrate metabolism, insulin signaling, cell proliferation, as well as mammary development and involution. Of particular interest are the CSN3 and CSN1S2 genes, which encode two major milk proteins. Additionally, we found three pigmentation genes (GLI3, MC1R, and MITF) co-localizing with selective sweeps. Performance of a genome-wide association study and Sanger sequencing and TaqMan genotyping experiments revealed that the c.801C>G (p.Cys267Trp) polymorphism in the melanocortin 1 receptor (MC1R) gene is the main determinant of the black (GG or GC genotypes) and brown (CC genotypes) colorations of Murciano-Granadina goats

A genome-wide association analysis for body, udder, and leg conformation traits recorded in Murciano-Granadina goats

Morphological traits are of great importance to dairy goat production given their effect on phenotypes of economic interest. However, their underlying genomic architecture has not yet been extensively characterized. Herein, we aimed to identify genomic regions associated with body, udder, and leg conformation traits recorded in 825 Murciano-Granadina goats. We genotyped this resource population using the GoatSNP50 BeadChip (Illumina Inc., San Diego, CA) and performed genome-wide association analyses using the GEMMA software. We found 2 genome-wide significant associations between markers rs268273468 [Capra hircus (CHI) 16:69617700] and rs268249346 (CHI 28:18321523) and medial suspensory ligament. In contrast, we did not detect any genome-wide significant associations for body and leg traits. Moreover, we found 12, 19, and 7 chromosome-wide significant associations for udder, body, and leg traits, respectively. Comparison of our data with previous studies revealed a low level of positional concordance between regions associated with morphological traits. In addition to technical factors, this lack of concordance could be due to a substantial level of genetic heterogeneity among breeds or to the strong polygenic background of morphological traits, which makes it difficult to detect genetic factors that have small phenotypic effects

GRB minimum variability timescale with Insight-HXMT and Swift: implications for progenitor models, dissipation physics and GRB classifications

The dissipation process of GRB prompt emission is still unknown. Study of temporal variability may provide a unique way to discriminate the imprint of the inner engine activity from geometry and propagation related effects. We define the minimum variability timescale (MVT) as the shortest duration of individual pulses that shape a light curve for a sample of GRBs and test correlations with peak luminosity, Lorentz factor, and jet opening angle. We compare these correlations with predictions from recent numerical simulations for a relativistic structured -- possibly wobbling -- jet and assess the value of MTV as probe of prompt-emission physics. We used the peak detection algorithm mepsa to identify the shortest pulse within a GRB time history and estimate its full width half maximum (FWHM). We applied this framework to two sets of GRBs: Swift (from 2005 to July 2022) and Insight-HXMT (from June 2017 to July 2021, including 221009A). We then selected 401 GRBs with measured z to test for correlations. On average short GRBs have significantly shorter MVT than long GRBs. The MVT distribution of short GRBs with extended emission such as 060614 and 211211A is compatible only with that of short GRBs. This provides a new clue on the progenitor's nature. The MVT for long GRBs anticorrelates with peak luminosity. We confirm the anticorrelation with the Lorentz factor and find a correlation with the jet opening angle as estimated from the afterglow, along with an inverse correlation with the number of pulses. The MVT can identify the emerging putative new class of long GRBs that are suggested to be produced by compact binary mergers. For otherwise typical long GRBs, the different correlations between MVT and peak luminosity, Lorentz factor, jet opening angle, and number of pulses can be explained within the context of structured, possibly wobbling, weakly magnetised relativistic jets. (summarised)Comment: 18 pages, 15 figures, accepted by A&

Grey matter atrophy is associated with disability increase in natalizumab-treated patients

Background: Brain volume loss (BVL) is a key outcome in multiple sclerosis (MS) trials. Natalizumab is highly effective on inflammation with moderate impact on atrophy. Objective: To explore BVL in patients receiving natalizumab with an emphasis on grey matter (GM). Methods: We performed a retrospective post hoc analysis of BVL in 38 patients receiving natalizumab for 3 years using longitudinal voxel-based morphometry (VBM) and FreeSurfer. Results: Significant BVL was observed during first year: brain parenchymal fraction (BPF): −1.12% (p  right fronto-parietal cortex, right > left hippocampus and left caudate. FreeSurfer showed significant volume losses in subcortical GM, brainstem and cerebellum, and cortical thinning in the left insula. In the second year, only WMF decrease (−0.6%; p = 0.015) was observed with no VBM changes, although FreeSurfer detected significant volume loss in thalamus, hippocampus and cerebellum. Baseline gadolinium enhancement influenced WMF and BPF changes during the first year, but not GMF. Patients with confirmed Expanded Disability Status Scale (EDSS) worsening at 3 years had lower baseline GMF and left thalamus volume and greater BVL over follow-up. Conclusion: BVL develops mainly during the first year of natalizumab therapy. GM changes are independent of baseline inflammation and correlate with disability

Pivoting system fracture in a bileaflet mechanical valve: A case report

A leaflet escape occurred in a low profile bileaflet mechanical prosthesis manufactured by TRI-Technologies that had been implanted for 3 years in the mitral position of a 32 year old patient. The escaped leaflet had embolized and was subsequently located by an abdominal computerized axial tomography scan and ultrasound in the terminal portion of the aortic bifurcation. The embolized leaflet was removed 3 months after valve replacement surgery. In an attempt to determine the cause of the escape the retrieved embolized leaflet was investigated. Techniques employed included visual examination aided by stereo-microscopy, x-ray imaging and scanning electron microscopy. One of the ears had fractured and was missing from the leaflet. Chipping was observed at the leaflet ear position on both the inflow and outflow surfaces. Visual and SEM observations found fractographic river-lines that indicated an apparent origin at the inflow surface of the ear nearest to the straight ‘B-datum’ line or coaptation edge. The origin seemed to be in the radius between the leaflet ear and the leaflet body. SEM observation of the remaining intact ear showed wear marks on both the inflow and outflow sides of the leaflet ear that corresponded to the suspected origin of fracture. It is believed that the use of boron alloyed pyrolytic carbon material and the leaflet\u27s homogeneous monolithic structural design were factors that contributed to this adverse event

Retinal inner nuclear layer volume reflects inflammatory disease activity in multiple sclerosis; a longitudinal OCT study.

BACKGROUNG: The association of peripapillary retinal nerve fibre layer (pRNFL) and ganglion cell-inner plexiform layer (GCIPL) thickness with neurodegeneration in multiple sclerosis (MS) is well established. The relationship of the adjoining inner nuclear layer (INL) with inflammatory disease activity is less well understood. OBJECTIVE: The objective of this paper is to investigate the relationship of INL volume changes with inflammatory disease activity in MS. METHODS: In this longitudinal, multi-centre study, optical coherence tomography (OCT) and clinical data (disability status, relapses and MS optic neuritis (MSON)) were collected in 785 patients with MS (68.3% female) and 92 healthy controls (63.4% female) from 11 MS centres between 2010 and 2017 and pooled retrospectively. Data on pRNFL, GCIPL and INL were obtained at each centre. RESULTS: There was a significant increase in INL volume in eyes with new MSON during the study (N = 61/1562, β = 0.01 mm(3), p < .001). Clinical relapses (other than MSON) were significantly associated with increased INL volume (β = 0.005, p = .025). INL volume was independent of disease progression (β = 0.002 mm(3), p = .474). CONCLUSION: Our data demonstrate that an increase in INL volume is associated with MSON and the occurrence of clinical relapses. Therefore, INL volume changes may be useful as an outcome marker for inflammatory disease activity in MSON and MS treatment trials