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1.
Brain Inj ; 34(11): 1541-1547, 2020 09 18.
Artigo em Inglês | MEDLINE | ID: mdl-32816559

RESUMO

Factor XI (FXI) deficiency, also known as hemophilia C, is included in the rare bleeding disorders (RBDs). It is distinct from other coagulation factor deficiencies because it rarely presents as spontaneous hemorrhage, but rather as bleeding after trauma or surgery; in addition, the severity of bleeding does not correlate with FXI levels. Most delayed traumatic intracerebral hemorrhage (DTICH) occurs during the first 72 hours of the trauma. Factors that contribute to its formation include local or systemic coagulopathy, among others. Hemorrhagic cases of FXI deficiency related to the central nervous system (CNS) are very rare, with only 13 reported cases. To the best of our knowledge, this is the first reported case of a DTICH in a patient with undiagnosed FXI deficiency.


Assuntos
Hemorragia Cerebral Traumática , Deficiência do Fator XI , Hemorragia Cerebral Traumática/diagnóstico , Hemorragia Cerebral Traumática/etiologia , Fator XI , Deficiência do Fator XI/complicações , Deficiência do Fator XI/diagnóstico , Hemorragia , Humanos
2.
J Appl Genet ; 65(2): 383-394, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38528244

RESUMO

Composite breeds, including Brangus, are widely utilized in subtropical and tropical regions to harness the advantages of both Bos t. taurus and Bos t. indicus breeds. The formation and subsequent selection of composite breeds may result in discernible signatures of selection and shifts in genomic population structure. The objectives of this study were to 1) assess genomic inbreeding, 2) identify signatures of selection, 3) assign functional roles to these signatures in a commercial Brangus herd, and 4) contrast signatures of selection between selected and non-selected cattle from the same year. A total of 4035 commercial Brangus cattle were genotyped using the GGP-F250K array. Runs of Homozygosity (ROH) were used to identify signatures of selection and calculate genomic inbreeding. Quantitative trait loci (QTL) enrichment analysis and literature search identified phenotypic traits linked to ROH islands. Genomic inbreeding averaged 5%, primarily stemming from ancestors five or more generations back. A total of nine ROH islands were identified, QTL enrichment analysis revealed traits related to growth, milk composition, carcass, reproductive, and meat quality traits. Notably, the ROH island on BTA14 encompasses the pleiomorphic adenoma (PLAG1) gene, which has been linked to growth, carcass, and reproductive traits. Moreover, ROH islands associated with milk yield and composition were more pronounced in selected replacement heifers of the population, underscoring the importance of milk traits in cow-calf production. In summary, our research sheds light on the changing genetic landscape of the Brangus breed due to selection pressures and reveals key genomic regions impacting production traits.


Assuntos
Genômica , Endogamia , Bovinos/genética , Animais , Feminino , Genótipo , Homozigoto , Locos de Características Quantitativas , Polimorfismo de Nucleotídeo Único
3.
J Anim Sci Biotechnol ; 15(1): 66, 2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38715151

RESUMO

BACKGROUND: Thermal stress in subtropical regions is a major limiting factor in beef cattle production systems with around $369 million being lost annually due to reduced performance. Heat stress causes numerous physiological and behavioral disturbances including reduced feed intake and decreased production levels. Cattle utilize various physiological mechanisms such as sweating to regulate internal heat. Variation in these traits can help identify genetic variants that control sweat gland properties and subsequently allow for genetic selection of cattle with greater thermotolerance. METHODS: This study used 2,401 Brangus cattle from two commercial ranches in Florida. Precise phenotypes that contribute to an animal's ability to manage heat stress were calculated from skin biopsies and included sweat gland area, sweat gland depth, and sweat gland length. All animals were genotyped with the Bovine GGP F250K, and BLUPF90 software was used to estimate genetic parameters and for Genome Wide Association Study. RESULTS: Sweat gland phenotypes heritability ranged from 0.17 to 0.42 indicating a moderate amount of the phenotypic variation is due to genetics, allowing producers the ability to select for favorable sweat gland properties. A weighted single-step GWAS using sliding 10 kb windows identified multiple quantitative trait loci (QTLs) explaining a significant amount of genetic variation. QTLs located on BTA7 and BTA12 explained over 1.0% of genetic variance and overlap the ADGRV1 and CCDC168 genes, respectively. The variants identified in this study are implicated in processes related to immune function and cellular proliferation which could be relevant to heat management. Breed of Origin Alleles (BOA) were predicted using local ancestry in admixed populations (LAMP-LD), allowing for identification of markers' origin from either Brahman or Angus ancestry. A BOA GWAS was performed to identify regions inherited from particular ancestral breeds that might have a significant impact on sweat gland phenotypes. CONCLUSIONS: The results of the BOA GWAS indicate that both Brahman and Angus alleles contribute positively to sweat gland traits, as evidenced by favorable marker effects observed from both genetic backgrounds. Understanding and utilizing genetic traits that confer better heat tolerance is a proactive approach to managing the impacts of climate change on livestock farming.

4.
Front Genet ; 14: 1107468, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37229201

RESUMO

Cattle lose heat predominantly through cutaneous evaporation at the skin-hair coat interface when experiencing heat stress. Sweating ability, sweat gland properties, and hair coat properties are a few of the many variables determining the efficacy of evaporative cooling. Sweating is a significant heat dissipation mechanism responsible for 85% of body heat loss when temperatures rise above 86°F. The purpose of this study was to characterize skin morphological parameters in Angus, Brahman, and their crossbred cattle. Skin samples were taken during the summer of 2017 and 2018 from a total of 319 heifers from six breed groups ranging from 100% Angus to 100% Brahman. Epidermis thickness decreased as the percentage of Brahman genetics increased where the 100% Angus group had a significantly thicker epidermis compared to the 100% Brahman animals. A more extended epidermis layer was identified in Brahman animals due to more pronounced undulations in this skin layer. Breed groups with 75% and 100% Brahman genes were similar and had the largest sweat gland area, indicative of superior resilience to heat stress, compared to breed groups with 50% or lower Brahman genetics. There was a significant linear breed group effect on sweat gland area indicating an increase of 862.0 µm2 for every 25% increase in Brahman genetics. Sweat gland length increased as the Brahman percentage increased, while the sweat gland depth showed an opposite trend, decreasing from 100% Angus to 100% Brahman. The number of sebaceous glands was highest in 100% Brahman animals which had about 1.77 more sebaceous glands (p < 0.05) per 4.6 mm2area. Conversely, the sebaceous gland area was greatest in the 100% Angus group. This study identified significant differences in skin properties related to heat exchange ability between Brahman and Angus cattle. Equally important, these differences are also accompanied by significant levels of variation within each breed, which is indicative that selection for these skin traits would improve the heat exchange ability in beef cattle. Further, selecting beef cattle for these skin traits would lead to increased resilience to heat stress without disrupting production traits.

5.
Transl Anim Sci ; 7(1): txad021, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36970314

RESUMO

The quality grade system used in the United States to identify carcasses with superior eating satisfaction to consumers is based on the amount of marbling within the ribeye and the maturity of the carcass. However, the most important quality attribute for consumers is tenderness. The objective of this study was to investigate the phenotypic correlations between carcass and meat quality traits of strip loin steaks from Brangus steers, particularly the relation between the United States Department of Agriculture (USDA) quality grade and tenderness. Warner-Bratzler shear force (WBSF) values in this study averaged 5.10 ± 0.96 kg, slightly higher than the national average of 4.55 ± 1.14 kg. Average WBSF across all quality grades ranged from 4.90 to 5.27 kg with standard deviations ranging from 0.78 to 1.40 kg. In the present Brangus steer population, there was a weak negative (-0.13) but favorable correlation (P < 0.05) between marbling score and tenderness measured through WBSF. The USDA quality grade had a significant (P = 0.02) effect on WBSF. The WBSF least square means were significantly higher in the Select compared with the Choice¯, and Choiceº quality grades. The Choice⁺ and Prime quality grades were not significantly different from any quality grades regarding the WBSF. The standard quality grade did not have significantly different WBSF least square means from any other quality grade. The range of WBSF values was large, especially in the lower quality grade categories, indicating that there is considerable variation in tenderness, even within quality grade. The high level of variation in tenderness within USDA quality grades highlights the limitation of the USDA grading system to predict eating quality or tenderness.

6.
J Anim Sci Biotechnol ; 14(1): 137, 2023 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-37932831

RESUMO

BACKGROUND: In beef cattle, more than 50% of the energy input to produce a unit of beef is consumed by the female that produced the calf. Development of genomic tools to identify females with high genetic merit for reproductive function could increase the profitability and sustainability of beef production. RESULTS: Genome-wide association studies (GWAS) were performed using a single-step genomic best linear unbiased prediction approach on pregnancy outcome traits from a population of Angus-Brahman crossbred heifers. Furthermore, a validation GWAS was performed using data from another farm. Heifers were genotyped with the Bovine GGP F250 array that contains 221,077 SNPs. In the discovery population, heifers were bred in winter breeding seasons involving a single round of timed artificial insemination (AI) followed by natural mating for 3 months. Two phenotypes were analyzed: pregnancy outcome to first-service AI (PAI; n = 1,481) and pregnancy status at the end of the breeding season (PEBS; n = 1,725). The heritability was estimated as 0.149 and 0.122 for PAI and PEBS, respectively. In the PAI model, one quantitative trait locus (QTL), located between 52.3 and 52.5 Mb on BTA7, explained about 3% of the genetic variation, in a region containing a cluster of γ-protocadherin genes and SLC25A2. Other QTLs explaining between 0.5% and 1% of the genetic variation were found on BTA12 and 25. In the PEBS model, a large QTL on BTA7 was synonymous with the QTL for PAI, with minor QTLs located on BTA5, 9, 10, 11, 19, and 20. The validation population for pregnancy status at the end of the breeding season were Angus-Brahman crossbred heifers bred by natural mating. In concordance with the discovery population, the large QTL on BTA7 and QTLs on BTA10 and 12 were identified. CONCLUSIONS: In summary, QTLs and candidate SNPs identified were associated with pregnancy outcomes in beef heifers, including a large QTL associated with a group of protocadherin genes. Confirmation of these associations with larger populations could lead to the development of genomic predictions of reproductive function in beef cattle. Moreover, additional research is warranted to study the function of candidate genes associated with QTLs.

7.
Surg Neurol Int ; 8: 14, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28217393

RESUMO

BACKGROUND: The association of a hemorrhagic tumor with secondary superficial siderosis (SS) is a relatively rare although well described phenomenon. CASE DESCRIPTION: We present the case report of a 35-year-old male with a history of drowsiness, hypoacusia, drop attacks, and multidirectional nystagmus during the last 2 months, who presented with acute obstructive hydrocephalus caused by a fourth ventricle mass displaying radiological signs of repeated intra and extratumoral hemorrhage with SS. He underwent gross surgical removal of the solid component of the tumor. Microscopic examination revealed an ependymoma with atypical features, including prominent angiomatous formations and internal chronic hemorrhages with hemosiderin deposits, resembling a cavernoma. The scarce tumoral component, which extended around these cavernous vessels, lacked the gross typical features of fibrillary stroma or perivascular pseudorosettes. CONCLUSION: To our knowledge, including the present case, there are 45 published reports of tumors associating secondary SS. Besides ependymoma, no other hemorrhagic lesion, tumoral or vascular, has been previously published associating a fourth ventricle location with secondary SS. The present case represents the fifth with this finding, and we strongly suggest ependymoma as a presumptive diagnosis when this rare association is encountered. In addition, this appears to be the first case reported in the scientific literature of a hemorrhagic fourth ventricle ependymoma mimicking both, radiologically and histologically, a cavernous malformation.

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