Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 470
Filtrar
1.
Animals (Basel) ; 14(3)2024 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-38338087

RESUMO

Understanding the genetic makeup of local sheep breeds is essential for their scientific conservation and sustainable utilization. The Liangshan semi-fine-wool sheep (LSS), a Chinese semi-fine-wool breed renowned for its soft wool, was analyzed using whole-genome sequencing data including 35 LSS, 84 sheep from other domestic breeds, and 20 Asiatic mouflons. We investigated the genetic composition of LSS by conducting analyses of the population structure, runs of homozygosity, genomic inbreeding coefficients, and selection signature. Our findings indicated that LSS shares greater genetic similarity with Border Leicester and Romney sheep than with Tibetan (TIB), Yunnan (YNS), and Chinese Merino sheep. Genomic analysis indicated low to moderate inbreeding coefficients, ranging from 0.014 to 0.154. In identifying selection signals across the LSS genome, we pinpointed 195 candidate regions housing 74 annotated genes (e.g., IRF2BP2, BVES, and ALOX5). We also found the overlaps between the candidate regions and several known quantitative trait loci related to wool traits, such as the wool staple length and wool fiber diameter. A selective sweep region, marked by the highest value of cross-population extended haplotype homozygosity, encompassed IRF2BP2-an influential candidate gene affecting fleece fiber traits. Furthermore, notable differences in genotype frequency at a mutation site (c.1051 + 46T > C, Chr25: 6,784,190 bp) within IRF2BP2 were observed between LSS and TIB and YNS sheep (Fisher's exact test, p < 2.2 × 10-16). Taken together, these findings offer insights crucial for the conservation and breeding enhancement of LSS.

2.
Microbiome ; 12(1): 33, 2024 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-38374121

RESUMO

BACKGROUND: Domesticated pigs serve as an ideal animal model for biomedical research and also provide the majority of meat for human consumption in China. Porcine intramuscular fat content associates with human health and diseases and is essential in pork quality. The molecular mechanisms controlling lipid metabolism and intramuscular fat accretion across tissues in pigs, and how these changes in response to pig breeds, remain largely unknown. RESULTS: We surveyed the tissue-resident cell types of the porcine jejunum, colon, liver, and longissimus dorsi muscle between Lantang and Landrace breeds by single-cell RNA sequencing. Combining lipidomics and metagenomics approaches, we also characterized gene signatures and determined key discriminating markers of lipid digestibility, absorption, conversion, and deposition across tissues in two pig breeds. In Landrace, lean-meat swine mainly exhibited breed-specific advantages in lipid absorption and oxidation for energy supply in small and large intestinal epitheliums, nascent high-density lipoprotein synthesis for reverse cholesterol transport in enterocytes and hepatocytes, bile acid formation, and secretion for fat emulsification in hepatocytes, as well as intestinal-microbiota gene expression involved in lipid accumulation product. In Lantang, obese-meat swine showed a higher synthesis capacity of chylomicrons responsible for high serum triacylglycerol levels in small intestinal epitheliums, the predominant characteristics of lipid absorption in muscle tissue, and greater intramuscular adipcytogenesis potentials from muscular fibro-adipogenic progenitor subpopulation. CONCLUSIONS: The findings enhanced our understanding of the cellular biology of lipid metabolism and opened new avenues to improve animal production and human diseases. Video Abstract.


Assuntos
Metabolismo dos Lipídeos , Músculo Esquelético , Animais , China , Metabolismo dos Lipídeos/genética , Lipídeos , Músculo Esquelético/metabolismo , Obesidade/metabolismo , Suínos
4.
Otol Neurotol ; 45(3): e156-e161, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38270174

RESUMO

OBJECTIVE: To improve estimation of cochlear implant (CI) insertion depth in postoperative skull x-rays using synthesized information from preoperative CT scans. STUDY DESIGN: Retrospective cohort. SETTING: Tertiary referral center. PATIENTS: Ten adult cochlear implant recipients with preoperative and postoperative temporal bone computed tomography (CT)scans and postoperative skull x-ray imaging. INTERVENTIONS: Postoperative x-rays and digitally reconstructed radiographs (DRR) from preoperative CTs were registered using 3D Slicer and MATLAB to enhance localization of the round window and modiolus. Angular insertion depth (AID) was estimated in unmodified and registration-enhanced x-rays and DRRs in the cochlear view. Linear insertion depth (LID) was estimated in registered images by two methods that localized the proximal CI electrode or segmented the cochlea. Ground truth assessments were made in postoperative CTs. MAIN OUTCOME MEASURES: Errors of insertion depth estimates were calculated relative to ground truth measurements and compared with paired t t ests. Pearson correlation coefficient was used to assess inter-rater reliability of two reviewer's measurements of AID in unmodified x-rays. RESULTS: In postoperative x-rays, AID estimation errors were similar with and without registration enhancement (-1.3 ± 20.7° and -4.8 ± 24.9°, respectively; mean ± SD; p = 0.6). AID estimation in unmodified x-rays demonstrated strong interrater agreement (ρ = 0.79, p < 0.05) and interrater differences (-15.0 ± 35.3°) comparable to estimate errors. Registering images allowed measurement of AID in the cochlear view with estimation errors of 14.6 ± 30.6° and measurement of LID, with estimate errors that were similar between proximal electrode localization and cochlear segmentation methods (-0.9 ± 2.2 mm and -2.1 ± 2.7 mm, respectively; p = 0.3). CONCLUSIONS: 2D-3D image registration allows measurement of AID in the cochlear view and LID using postoperative x-rays and preoperative CT imaging. The use of this technique may reduce the need for postimplantation CT studies to assess these metrics of CI electrode position. Further work is needed to improve the accuracy of AID assessment in the postoperative x-ray view with registered images compared with established methods.


Assuntos
Implante Coclear , Implantes Cocleares , Adulto , Humanos , Raios X , Estudos Retrospectivos , Reprodutibilidade dos Testes , Implante Coclear/métodos , Cóclea/diagnóstico por imagem , Cóclea/cirurgia , Tomografia Computadorizada por Raios X/métodos
5.
Cell Rep Med ; 5(1): 101360, 2024 01 16.
Artigo em Inglês | MEDLINE | ID: mdl-38232694

RESUMO

The failure of the Staphylococcus aureus (SA) IsdB vaccine trial can be explained by the recall of non-protective immune imprints from prior SA exposure. Here, we investigate natural human SA humoral imprints to understand their broader impact on SA immunizations. We show that antibody responses against SA cell-wall-associated antigens (CWAs) are non-opsonic, while antibodies against SA toxins are neutralizing. Importantly, the protective characteristics of the antibody imprints accurately predict the failure of corresponding vaccines against CWAs and support vaccination against toxins. In passive immunization platforms, natural anti-SA human antibodies reduce the efficacy of the human monoclonal antibodies suvratoxumab and tefibazumab, consistent with the results of their respective clinical trials. Strikingly, in the absence of specific humoral memory responses, active immunizations are efficacious in both naive and SA-experienced mice. Overall, our study points to a practical and predictive approach to evaluate and develop SA vaccines based on pre-existing humoral imprint characteristics.


Assuntos
Staphylococcus aureus Resistente à Meticilina , Vacinas Antiestafilocócicas , Vacinas , Animais , Humanos , Camundongos , Imunização , Staphylococcus aureus , Ensaios Clínicos como Assunto
6.
J Foot Ankle Surg ; 63(2): 233-236, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38043602

RESUMO

Plantar fasciitis is one of the most common foot conditions presenting to a foot and ankle specialist. Surgical treatment outcomes following plantar fasciotomy vary but short-term studies have reported excellent early pain relief and significant improvements in symptoms. This study evaluates patient reported pain scores collected pre- and post-op for patients who underwent percutaneous ultrasonic microtenotomy (PUT) plantar fasciotomy with PRP injection vs without the use of PRP. We compared pain visual analog scale (VAS) scores, for patients treated surgically by Orthopedic Surgery department of foot and ankle faculty members between December 2007 and December 2022. A total of 30 patients were identified that met inclusion and exclusion criteria. Our results showed that there was a significant decrease in pain VAS scores from pre-op visit (at least 1 month prior to operation) to post-op visit (at least 1 month following operation) for both groups, with a paired t test (p value <.0001). However, patients who received PRP had a statistically significant decrease in pain level compared to the group who did not receive PRP. Statistical analysis completed with a 2-sample t test (p-value <.0325). Our results found the mean time between the initial pre-op visit and last post-op follow-up visit was 19 months. The mean for time following surgical intervention was 10 months. The findings of our study suggest that the dual use of PUT and PRP to treat plantar fasciitis, could potentially lead to an improvement in pain reduction and longevity of pain relief.


Assuntos
Fasciíte Plantar , Plasma Rico em Plaquetas , Humanos , Fasciotomia , Fasciíte Plantar/diagnóstico por imagem , Fasciíte Plantar/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Dor , Ultrassonografia de Intervenção
7.
Mol Ther ; 32(1): 59-73, 2024 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-37974401

RESUMO

GPIHBP1 plays an important role in the hydrolysis of triglyceride (TG) lipoproteins by lipoprotein lipases (LPLs). However, Gpihbp1 knockout mice did not develop hypertriglyceridemia (HTG) during the suckling period but developed severe HTG after weaning on a chow diet. It has been postulated that LPL expression in the liver of suckling mice may be involved. To determine whether hepatic LPL expression could correct severe HTG in Gpihbp1 deficiency, liver-targeted LPL expression was achieved via intravenous administration of the adeno-associated virus (AAV)-human LPL gene, and the effects of AAV-LPL on HTG and HTG-related acute pancreatitis (HTG-AP) were observed. Suckling Gpihbp1-/- mice with high hepatic LPL expression did not develop HTG, whereas Gpihbp1-/- rat pups without hepatic LPL expression developed severe HTG. AAV-mediated liver-targeted LPL expression dose-dependently decreased plasma TG levels in Gpihbp1-/- mice and rats, increased post-heparin plasma LPL mass and activity, decreased mortality in Gpihbp1-/- rat pups, and reduced the susceptibility and severity of both Gpihbp1-/- animals to HTG-AP. However, the muscle expression of AAV-LPL had no significant effect on HTG. Targeted expression of LPL in the liver showed no obvious adverse reactions. Thus, liver-targeted LPL expression may be a new therapeutic approach for HTG-AP caused by GPIHBP1 deficiency.


Assuntos
Hipertrigliceridemia , Pancreatite , Receptores de Lipoproteínas , Animais , Humanos , Camundongos , Ratos , Doença Aguda , Dependovirus/genética , Dependovirus/metabolismo , Hipertrigliceridemia/genética , Hipertrigliceridemia/terapia , Lipase Lipoproteica/genética , Lipase Lipoproteica/metabolismo , Fígado/metabolismo , Pancreatite/genética , Pancreatite/terapia , Pancreatite/metabolismo , Receptores de Lipoproteínas/genética , Receptores de Lipoproteínas/metabolismo , Triglicerídeos/metabolismo
8.
J Foot Ankle Surg ; 63(2): 226-232, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37984694

RESUMO

Hallux valgus (HV) is a common condition in which the first ray is deformed, leading to pain and altered joint mechanics. A variety of radiographic measurements are used to evaluate HV. Little is known about measurements used in the assessment of HV on lateral radiographs compared to anteroposterior (AP) radiographs. The primary aim of this study was to correlate lateral measurements with AP measurements pre and postoperatively. The secondary aim was to correlate lateral measurements with patient-reported outcome measures (PROMs) pre and postoperatively. One hundred eighty-three patients were initially enrolled in the study. Two fellowship-trained musculoskeletal radiologists independently performed all measurements. On AP radiographs, hallux valgus angle (HVA) and intermetatarsal angle (IMA) were measured. On lateral radiographs, sagittal IMA, Meary's angle, and sagittal first ray length were measured. Measurements were recorded at baseline and 6, 12, and 24 months postoperatively. Intraclass correlation coefficients (ICCs) were used for inter-reader analysis. ICCs were moderate to very strong among readers. There were significant but weak correlations between lateral measurements and AP measurements. For at least 1 timepoint, IMA correlated with sagittal IMA, sagittal first ray length, and Meary's angle. HVA only correlated with sagittal first ray length. These correlations were all weak in magnitude. There were a few significant but weak correlations between the measurements in the study and PROMs. This study showed that sagittal IMA, sagittal first ray length, and Meary's angle are not predictive of AP measurements or patient outcomes and are not useful in preoperative assessment of HV.


Assuntos
Joanete , Hallux Valgus , Ossos do Metatarso , Humanos , Hallux Valgus/diagnóstico por imagem , Hallux Valgus/cirurgia , Estudos Prospectivos , , Medidas de Resultados Relatados pelo Paciente , Estudos Retrospectivos , Ossos do Metatarso/cirurgia
9.
Laryngoscope ; 134(3): 1426-1430, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37615366

RESUMO

We describe an unusual case of glomangiopericytoma presenting as a mass filling the middle ear, enveloping the ossicles, and extending into the mastoid antrum without bony destruction. Management involved three surgeries and stereotactic radiosurgery, which achieved short-term local control with no evidence of disease on MRI imaging 12 months after radiation. Facial nerve function and hearing were preserved. This is the first report to our knowledge of a glomangiopericytoma presenting as a primary temporal bone lesion. Treatment with surgery and stereotactic radiosurgery for residual or recurrent disease is a reasonable approach to achieve local control and functional preservation. Laryngoscope, 134:1426-1430, 2024.


Assuntos
Otopatias , Neoplasias de Cabeça e Pescoço , Radiocirurgia , Humanos , Audição , Radiocirurgia/métodos , Orelha Média/diagnóstico por imagem , Resultado do Tratamento
10.
Int Forum Allergy Rhinol ; 14(1): 138-140, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37365856

RESUMO

KEY POINTS: Eustachian tube recanalization is a feasible procedure but additional studies are needed to determine its safety. Eustachian tube closure can result from different etiologies and can cause severe symptoms. Ureteral stents have appropriate shape and pliability for placement and long-term healing. Multidisciplinary team approach allows for simultaneous endonasal and otologic approaches.


Assuntos
Tuba Auditiva , Humanos , Tuba Auditiva/cirurgia , Endoscopia/métodos , Nariz , Stents , Dilatação/métodos
11.
mBio ; 15(1): e0022523, 2024 Jan 16.
Artigo em Inglês | MEDLINE | ID: mdl-38112465

RESUMO

IMPORTANCE: The prevalence of multidrug-resistant Staphylococcus aureus is of global concern, and vaccines are urgently needed. The iron-regulated surface determinant protein B (IsdB) of S. aureus was investigated as a vaccine candidate because of its essential role in bacterial iron acquisition but failed in clinical trials despite strong immunogenicity. Here, we reveal an unexpected second function for IsdB in pathogen-host interaction: the bacterial fitness factor IsdB triggers a strong inflammatory response in innate immune cells via Toll-like receptor 4 and the inflammasome, thus acting as a novel pathogen-associated molecular pattern of S. aureus. Our discovery contributes to a better understanding of how S. aureus modulates the immune response, which is necessary for vaccine development against the sophisticated pathogen.


Assuntos
Proteínas de Bactérias , Proteínas de Transporte de Cátions , Citocinas , Staphylococcus aureus Resistente à Meticilina , Proteína 3 que Contém Domínio de Pirina da Família NLR , Infecções Estafilocócicas , Receptor 4 Toll-Like , Humanos , Proteínas de Bactérias/imunologia , Caspase 1/metabolismo , Proteínas de Transporte de Cátions/imunologia , Citocinas/metabolismo , Inflamassomos/metabolismo , Ferro/metabolismo , Staphylococcus aureus Resistente à Meticilina/imunologia , Proteína 3 que Contém Domínio de Pirina da Família NLR/genética , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Infecções Estafilocócicas/imunologia , Receptor 4 Toll-Like/metabolismo
12.
Nat Commun ; 14(1): 8061, 2023 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-38052825

RESUMO

Acne is a dermatologic disease with a strong pathologic association with human commensal Cutibacterium acnes. Conspicuously, certain C. acnes phylotypes are associated with acne, whereas others are associated with healthy skin. Here we investigate if the evolution of a C. acnes enzyme contributes to health or acne. Two hyaluronidase variants exclusively expressed by C. acnes strains, HylA and HylB, demonstrate remarkable clinical correlation with acne or health. We show that HylA is strongly pro-inflammatory, and HylB is modestly anti-inflammatory in a murine (female) acne model. Structural and phylogenic studies suggest that the enzymes evolved from a common hyaluronidase that acquired distinct enzymatic activity. Health-associated HylB degrades hyaluronic acid (HA) exclusively to HA disaccharides leading to reduced inflammation, whereas HylA generates large-sized HA fragments that drive robust TLR2-dependent pathology. Replacing an amino acid, Serine to Glycine near the HylA catalytic site enhances the enzymatic activity of HylA and produces an HA degradation pattern intermediate to HylA and HylB. Selective targeting of HylA using peptide vaccine or inhibitors alleviates acne pathology. We suggest that the functional divergence of HylA and HylB is a major driving force behind C. acnes health- and acne- phenotype and propose targeting of HylA as an approach for acne therapy.


Assuntos
Acne Vulgar , Hialuronoglucosaminidase , Humanos , Feminino , Animais , Camundongos , Pele/microbiologia , Propionibacterium acnes/genética , Aminoácidos
13.
medRxiv ; 2023 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-38076983

RESUMO

Acne vulgaris, rosacea, and hidradenitis suppurativa are enduring inflammatory skin conditions that frequently manifest with akin clinical attributes, posing a considerable challenge for their distinctive diagnosis. While these conditions do exhibit certain resemblances, they also demonstrate distinct underlying pathophysiological mechanisms and treatment modalities. Delving into both the molecular parallels and disparities among these three disorders can yield invaluable insights for refined diagnostics, effective management, and targeted therapeutic interventions. In this report, we present a comparative analysis of transcriptomic data across these three diseases, elucidating differentially expressed genes and enriched pathways specific to each ailment, as well as those shared among them. We also identified high dose dietary zinc as a potential therapeutic agent and validated its efficacy in an acne mouse model.

14.
Genes (Basel) ; 14(12)2023 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-38136943

RESUMO

Feed costs can amount to 75 percent of the total overhead cost of raising cows for milk production. Meanwhile, the livestock industry is considered a significant contributor to global climate change due to the production of greenhouse gas emissions, such as methane. Indeed, the genetic basis of feed efficiency (FE) is of great interest to the animal research community. Here, we explore the epigenetic basis of FE to provide base knowledge for the development of genomic tools to improve FE in cattle. The methylation level of 37,554 CpG sites was quantified using a mammalian methylation array (HorvathMammalMethylChip40) for 48 Holstein cows with extreme residual feed intake (RFI). We identified 421 CpG sites related to 287 genes that were associated with RFI, several of which were previously associated with feeding or digestion issues. Activator of transcription and developmental regulation (AUTS2) is associated with digestive disorders in humans, while glycerol-3-phosphate dehydrogenase 2 (GPD2) encodes a protein on the inner mitochondrial membrane, which can regulate glucose utilization and fatty acid and triglyceride synthesis. The extensive expression and co-expression of these genes across diverse tissues indicate the complex regulation of FE in cattle. Our study provides insight into the epigenetic basis of RFI and gene targets to improve FE in dairy cattle.


Assuntos
Metilação de DNA , Lactação , Feminino , Humanos , Bovinos/genética , Animais , Lactação/fisiologia , Ração Animal/análise , Ingestão de Alimentos/genética , Genoma , Mamíferos/genética
15.
J Adv Res ; 2023 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-37923248

RESUMO

INTRODUCTION: Lecithin cholesterol acyltransferase (LCAT) plays a crucial role in acyl-esterifying cholesterol in plasma, which is essential for reverse cholesterol transport (RCT). Previous studies indicated that its activity on both α and ß lipoproteins interpret its effects on lipoproteins for many controversial investigations of atherosclerosis. OBJECTIVES: To better understand the relationship between LCAT, diet-induced dyslipidemia and atherosclerosis, we developed a double knockout (LCAT-/-&LDLR-/-, DKO) hamster model to evaluate the specific role of LCAT independent of LDL clearance effects. METHODS: Plasma triglyceride (TG), total cholesterol (TC), high-density lipoprotein-cholesterol (HDL-C), and free cholesterol (FC) levels were measured using biochemical reagent kits. FPLC was performed to analyze the components of lipoproteins. Apolipoprotein content was assessed using western blotting (WB). The hamsters were fed a high cholesterol/high fat diet (HCHFD) to induce atherosclerosis. Oil Red O staining was employed to detect plaque formation. Peritoneal macrophages were studied to investigate the effects of LCAT on cholesterol uptake and efflux. RESULTS: On HCHFD, DKO hamsters exhibited significantly elevated levels of TG and FC, while HDL-C was nearly undetectable without affecting TC levels, as compared to low-density lipoprotein receptor (LDLR)-deficient (LDLR-/-, LKO) hamsters. Lipoprotein profiling revealed a marked increase in plasma chylomicron/very low-density lipoprotein (CM/VLDL) fractions, along with an unexpected reduction in LDL fraction in DKO hamsters. Furthermore, DKO hamsters displayed aggravated atherosclerotic lesions in the aorta, aortic root, and coronary artery relative to LKO hamsters, attributed to a pro-atherogenic lipoprotein profile and impaired cholesterol efflux in macrophages. CONCLUSIONS: Our study demonstrates the beneficial role of LCAT in inhibiting atherosclerotic development and highlights the distinctive lipid metabolism characteristics in hamsters with familial hypercholesterolemia.

16.
Cell Genom ; 3(10): 100385, 2023 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-37868035

RESUMO

Many quantitative trait loci (QTLs) are in non-coding regions. Therefore, QTLs are assumed to affect gene regulation. Gene expression and RNA splicing are primary steps of transcription, so DNA variants changing gene expression (eVariants) or RNA splicing (sVariants) are expected to significantly affect phenotypes. We quantify the contribution of eVariants and sVariants detected from 16 tissues (n = 4,725) to 37 traits of ∼120,000 cattle (average magnitude of genetic correlation between traits = 0.13). Analyzed in Bayesian mixture models, averaged across 37 traits, cis and trans eVariants and sVariants detected from 16 tissues jointly explain 69.2% (SE = 0.5%) of heritability, 44% more than expected from the same number of random variants. This 69.2% includes an average of 24% from trans e-/sVariants (14% more than expected). Averaged across 56 lipidomic traits, multi-tissue cis and trans e-/sVariants also explain 71.5% (SE = 0.3%) of heritability, demonstrating the essential role of proximal and distal regulatory variants in shaping mammalian phenotypes.

17.
Laryngoscope Investig Otolaryngol ; 8(5): 1312-1318, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37899847

RESUMO

Objectives: Advances in artificial intelligence (AI) technology have increased the feasibility of classifying voice disorders using voice recordings as a screening tool. This work develops upon previous models that take in single vowel recordings by analyzing multiple vowel recordings simultaneously to enhance prediction of vocal pathology. Methods: Voice samples from the Saarbruecken Voice Database, including three sustained vowels (/a/, /i/, /u/) from 687 healthy human participants and 334 dysphonic patients, were used to train 1-dimensional convolutional neural network models for multiclass classification of healthy, hyperfunctional dysphonia, and laryngitis voice recordings. Three models were trained: (1) a baseline model that analyzed individual vowels in isolation, (2) a stacked vowel model that analyzed three vowels (/a/, /i/, /u/) in the neutral pitch simultaneously, and (3) a stacked pitch model that analyzed the /a/ vowel in three pitches (low, neutral, and high) simultaneously. Results: For multiclass classification of healthy, hyperfunctional dysphonia, and laryngitis voice recordings, the stacked vowel model demonstrated higher performance compared with the baseline and stacked pitch models (F1 score 0.81 vs. 0.77 and 0.78, respectively). Specifically, the stacked vowel model achieved higher performance for class-specific classification of hyperfunctional dysphonia voice samples compared with the baseline and stacked pitch models (F1 score 0.56 vs. 0.49 and 0.50, respectively). Conclusions: This study demonstrates the feasibility and potential of analyzing multiple sustained vowel recordings simultaneously to improve AI-driven screening and classification of vocal pathology. The stacked vowel model architecture in particular offers promise to enhance such an approach. Lay Summary: AI analysis of multiple vowel recordings can improve classification of voice pathologies compared with models using a single sustained vowel and offer a strategy to enhance AI-driven screening of voice disorders. Level of Evidence: 3.

18.
BMC Genomics ; 24(1): 628, 2023 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-37865759

RESUMO

BACKGROUND: The survival and fertility of heifers are critical factors for the success of dairy farms. The mortality of heifers poses a significant challenge to the management and profitability of the dairy industry. In dairy farming, achieving early first calving of heifers is also essential for optimal productivity and sustainability. Recently, Council on Dairy Cattle Breeding (CDCB) and USDA have developed new evaluations of heifer health and fertility traits. However, the genetic basis of these traits has yet to be thoroughly studied. RESULTS: Leveraging the extensive U.S dairy genomic database maintained at CDCB, we conducted large-scale GWAS analyses of two heifer traits, livability and early first calving. Despite the large sample size, we found no major QTL for heifer livability. However, we identified a major QTL in the bovine MHC region associated with early first calving. Our GO analysis based on nearby genes detected 91 significant GO terms with a large proportion related to the immune system. This QTL in the MHC region was also confirmed in the analysis of 27 K bull with imputed sequence variants. Since these traits have few major QTL, we evaluated the genome-wide distribution of GWAS signals across different functional genomics categories. For heifer livability, we observed significant enrichment in promotor and enhancer-related regions. For early calving, we found more associations in active TSS, active Elements, and Insulator. We also identified significant enrichment of CDS and conserved variants in the GWAS results of both traits. By linking GWAS results and transcriptome data from the CattleGTEx project via TWAS, we detected four and 23 significant gene-trait association pairs for heifer livability and early calving, respectively. Interestingly, we discovered six genes for early calving in the Bovine MHC region, including two genes in lymph node tissue and one gene each in blood, adipose, hypothalamus, and leukocyte. CONCLUSION: Our large-scale GWAS analyses of two heifer traits identified a major QTL in the bovine MHC region for early first calving. Additional functional enrichment and TWAS analyses confirmed the MHC QTL with relevant biological evidence. Our results revealed the complex genetic basis of heifer health and fertility traits and indicated a potential connection between the immune system and reproduction in cattle.


Assuntos
Estudo de Associação Genômica Ampla , Reprodução , Bovinos/genética , Animais , Feminino , Masculino , Estudo de Associação Genômica Ampla/veterinária , Fertilidade/genética , Genoma , Fenótipo
19.
iScience ; 26(10): 107753, 2023 Oct 20.
Artigo em Inglês | MEDLINE | ID: mdl-37692285

RESUMO

We performed direct RNA sequencing (DRS) together with PCR-amplified cDNA long and short read sequencing for cattle adipocyte at different stages. We proved that the DRS was with advantages to avoid artificial transcripts and questionable exitrons. Totally, we obtained 68,124 transcripts with information of alternative splicing, poly (A) length and mRNA modification. The number of transcripts for adipogenesis was expanded by alternative splicing, which lead regulation mechanisms far more complex than ever known. We detected 891 differentially expressed genes (DEGs). However, 62.78% transcripts of DEGs were not significantly differentially expressed, and 248 transcripts showed opposite changing directions with their genes. The poly (A) tail became globally shorter in differentiated adipocyte than in primary adipocyte, and had a weak negative correlation with gene/transcript expression. Moreover, the study of different mRNA modifications implied their potential roles in gene expression and alternative splicing. Overall, our study promoted better understanding of adipogenesis mechanisms in cattle adipocytes.

20.
Genes (Basel) ; 14(9)2023 09 12.
Artigo em Inglês | MEDLINE | ID: mdl-37761929

RESUMO

This study aims to collect RNA-Seq data from Bos taurus samples representing dry and lactating mammary tissue, identify lncRNA transcripts, and analyze findings for their features and functional annotation. This allows for connections to be drawn between lncRNA and the lactation process. RNA-Seq data from 103 samples of Bos taurus mammary tissue were gathered from publicly available databases (60 dry, 43 lactating). The samples were filtered to reveal 214 dry mammary lncRNA transcripts and 517 lactating mammary lncRNA transcripts. The lncRNAs met common lncRNA characteristics such as shorter length, fewer exons, lower expression levels, and less sequence conservation when compared to the genome. Interestingly, several lncRNAs showed sequence similarity to genes associated with strong hair keratin intermediate filaments. Human breast cancer research has associated strong hair keratin filaments with mammary tissue cellular resilience. The lncRNAs were also associated with several genes/proteins that linked to pregnancy using expression correlation and gene ontology. Such findings indicate that there are crucial relationships between the lncRNAs found in mammary tissue and the development of the tissue, to meet both the animal's needs and our own production needs; these relationships should be further investigated to ensure that we continue to breed the most resilient, efficient dairy cattle.


Assuntos
Lactação , RNA Longo não Codificante , Humanos , Feminino , Gravidez , Bovinos/genética , Animais , Lactação/genética , RNA Longo não Codificante/genética , Queratinas Específicas do Cabelo , Filamentos Intermediários , Citoesqueleto
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...