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1.
Environ Res ; 244: 117965, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38123048

RESUMO

Despite a multi-decade decrease in cardiovascular disease, geographic disparities have widened, with excess mortality concentrated within the United States (U.S.) South. Petroleum production and refining, a major contributor to climate change, is concentrated within the U.S. South and emits multiple classes of atherogenic pollutants. We investigated whether residential exposure to oil refineries could explain variation in self-reported coronary heart disease (CHD) prevalence among adults in southern states for the year 2018, where the majority of oil refinery activity occurs (Alabama, Mississippi, Louisiana, Arkansas, Texas, New Mexico, and Oklahoma). We examined census tract-level association between oil refineries and CHD prevalence. We used a double matching method to adjust for measured and unmeasured spatial confounders: one-to-n distance matching and one-to-one generalized propensity score matching. Exposure metrics were constructed based on proximity to refineries, activities of refineries, and wind speed/direction. For all census tracts within 10 km of refineries, self-reported CHD prevalence ranged from 1.2% to 17.6%. Compared to census tracts located at ≥5 km and <10 km, one standard deviation increase in the exposure within 5 km of refineries was associated with a 0.33 (95% confidence interval: 0.04, 0.63) percentage point increase in the prevalence. A total of 1119.0 (123.5, 2114.2) prevalent cases or 1.6% (0.2, 3.1) of CHD prevalence in areas within 5 km from refineries were potentially explained by exposure to oil refineries. At the census tract-level, the prevalence of CHD explained by exposure to oil refineries ranged from 0.02% (0.00, 0.05) to 47.4% (5.2, 89.5). Thus, although we cannot rule out potential confounding by other personal risk factors, CHD prevalence was found to be higher in populations living nearer to oil refineries, which may suggest that exposure to oil refineries can increase CHD risk, warranting further investigation.


Assuntos
Doença das Coronárias , Poluição por Petróleo , Petróleo , Adulto , Humanos , Estados Unidos , Indústria de Petróleo e Gás , Fatores de Risco , Doença das Coronárias/induzido quimicamente , Doença das Coronárias/epidemiologia , Poluição por Petróleo/efeitos adversos
2.
J Anim Sci Technol ; 65(5): 912-921, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37969345

RESUMO

Genetic diversity analysis is crucial for maintaining and managing genetic resources. Several studies have examined the genetic diversity of Korean domestic chicken (KDC) populations using microsatellite markers, but it is difficult to capture the characteristics of the whole genome in this manner. Hence, this study analyzed the genetic diversity of several KDC populations using high-density single nucleotide polymorphism (SNP) genotype data. We examined 935 birds from 21 KDC populations, including indigenous and adapted Korean native chicken (KNC), Hyunin and Jeju KDC, and Hanhyup commercial KDC populations. A total of 212,420 SNPs of 21 KDC populations were used for calculating genetic distances and fixation index, and for ADMIXTURE analysis. As a result of the analysis, the indigenous KNC groups were genetically closer and more fixed than the other groups. Furthermore, Hyunin and Jeju KDC were similar to the indigenous KNC. In comparison, adapted KNC and Hanhyup KDC populations derived from the same original species were genetically close to each other, but had different genetic structures from the others. In conclusion, this study suggests that continuous evaluation and management are required to prevent a loss of genetic diversity in each group. Basic genetic information is provided that can be used to improve breeds quickly by utilizing the various characteristics of native chickens.

3.
Environ Res Lett ; 17(9)2022.
Artigo em Inglês | MEDLINE | ID: mdl-36340862

RESUMO

BACKGROUND: The southern United States (U.S.) sustains a disproportionate burden of incident stroke and associated mortality, compared to other parts of the U.S. A large proportion of this risk remains unexplained. Petroleum production and refining (PPR) is concentrated within this region and emits multiple pollutants implicated in stroke pathogenesis. The relationship between residential PPR exposure and stroke has not been studied. OBJECTIVE: We aimed to investigate the census tract-level association between residential PPR exposure and stroke prevalence for adults (≥18 years) in seven southern U.S. states in 2018. METHODS: We conducted spatial distance- and generalized propensity score-matched analysis that adjusts for sociodemographic factors, smoking, and unmeasured spatial confounding. PPR was measured as inverse-distance weighted averages of petroleum production within 2.5km or 5km from refineries, which was strongly correlated with measured levels of sulfur dioxide, a byproduct of PPR. RESULTS: The prevalence of self-reported stroke ranged from 0.4% to 12.7% for all the census tracts of the seven states. People with low socioeconomic status and of Hispanic ethnicity resided closer to petroleum refineries. The non-Hispanic Black population was exposed to higher PPR, while the non-Hispanic White population was exposed to lower PPR. Residential PPR exposure was significantly associated with stroke prevalence. One standard deviation increase in PPR within 5km from refineries was associated with 0.22 (95% confidence interval: 0.09, 0.34) percentage point increase in stroke prevalence. PPR explained 5.6% (2.4, 8.9) of stroke prevalence in the exposed areas. These values differed by states: 1.1% (0.5, 1.7) in Alabama to 11.7% (4.9, 18.6) in Mississippi, and by census tract-level: 0.08% (0.03, 0.13) to 25.3% (10.6, 40.0). CONCLUSIONS: PPR is associated with self-reported stroke prevalence, suggesting possible links between pollutants emitted from refineries and stroke. The increased prevalence due to PPR may differ by sociodemographic factors.

4.
J Korean Neurosurg Soc ; 65(4): 558-571, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35418005

RESUMO

OBJECTIVE: The primary objective of this study was to identify predicting factors for local control (LC) of atypical meningioma, and we validated them with comparing the predicting factors for recurrence-free survival (RFS). We also examined the rate of LC after surgical resection with or without adjuvant treatment and RFS. METHODS: Clinical and radiological records of patients with atypical meningiomas diagnosed at two institutes from January 2000 to December 2018 were reviewed retrospectively. Histopathological features were also reviewed using formalin-fixed paraffin embedded samples from pathological archives. RESULTS: Of the 99 atypical meningiomas eligible for analysis, 36 (36.4%) recurred during the follow-up period (mean, 83.3 months; range, 12-232 months). The rate of 3-year LC and 5-year LC was 80.8% and 74.7%, respectively. The mean time-to-recurrence was 49.4 months (range, 12-150). The mean RFS was 149.3 months (95% confidence interval, 128.8-169.8 months) during the mean follow-up duration of 83.3 months (range, 12-232 months). Multivariate analysis using Cox proportional-hazard regression model showed that the extent of resection (hazard ratio [HR], 4.761; p=0.013), Ki67 index (HR, 8.541; p=0.004), mitotic index (HR, 3.275; p=0.044), and tumor size (HR, 3.228; p=0.041) were independently associated with LC. These factors were also statistically associated with RFS. In terms of radiotherapy after surgical resection, the recurrence was not prevented by immediate radiotherapy because of the strong effect of proliferative index on recurrence. CONCLUSION: The present study suggests that the extent of resection, proliferative index (according to Ki67 expression) and mitotic index, and tumor size are associated with recurrence of atypical meningiomas. However, our results should be further validated through prospective and randomized clinical trials to overcome the inborn bias of retrospective nature of the study design.

5.
Animals (Basel) ; 12(5)2022 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-35268103

RESUMO

To optimize the reproduction of Jeju black cattle (JBC), freezing conditions for sperm were established and sperm motility, vitality, morphology, and fertility were evaluated to select the optimal bull for breeding. Semen samples from five JBC bulls were individually mixed with freezing medium at a final concentration of 1 × 108 sperm/mL and frozen in liquid nitrogen vapor at a height of 3 or 7 cm (referred to as 3 cm sperm and 7 cm sperm, respectively). When the freezing conditions were compared, the motility of 7 cm sperm was significantly higher than that of 3 cm sperm for the JBC-A bull. The motility, curvilinear velocity, straight-line velocity, and average path velocity of fresh and frozen-thawed sperm were the highest for the JBC-A bull. The vitalities of fresh and frozen-thawed sperm were the highest for the JBC-A/E and JBC-A bulls, respectively. The percentage of normal cells in fresh sperm was the highest for the JBC-D bull. The rates of the normal formation of two pronuclei and total sperm penetration were the highest in zygotes fertilized with sperm from the JBC-A bull. The sperm from the JBC-A bull had superior qualities and are thus the most appropriate choice for the preservation and reproduction of these endangered cattle.

6.
Cancer Res Treat ; 54(3): 690-708, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34793663

RESUMO

PURPOSE: This study aimed to investigate the methylation status of major histone modification sites in primary central nervous system lymphoma (PCNSL) samples and examine their prognostic roles in patients with PCNSL. MATERIALS AND METHODS: Between 2007 and 2020, 87 patients were histopathologically diagnosed with PCNSL. We performed immunohistochemical staining of the formalin-fixed paraffin-embedded samples of PCNSL for major histone modification sites, such as H3K4, H3K9, H3K27, H3K14, and H3K36. After detection of meaningful methylation sites, we examined histone modification enzymes that induce methylation or demethylation at each site using immunohistochemical staining. The meaningful immunoreactivity was validated by western blotting using fresh tissue of PCNSL. RESULTS: More frequent recurrences were found in hypomethylation of H3K4me3 (p=0.004) and hypermethylation of H3K27me2 (p<0.001) and H3K27me3 (p=0.002). These factors were also statistically related to short PFS and overall survival in the univariate and multivariate analyses. Next, histone modification enzymes inducing the demethylation of H3K4 (lysine-specific demethylase-1/2 and Jumonji AT-rich interactive domain [JARID] 1A-D]) and methylation of H3K27 (enhancer of zeste homolog [EZH]-1/2) were immu- nohistochemically stained. Among them, the immunoreactivity of JARID1A inversely associated with the methylation status of H3K4me3 (R2=-1.431), and immunoreactivity of EZH2 was directly associated with the methylation status of H3K27me2 (R2=0.667) and H3K27me3 (R2=0.604). These results were validated by western blotting in fresh PCNSL samples. CONCLUSION: Our study suggests that hypomethylation of H3K4me3 and hypermethylation of H3K27me2 and H3K27me3 could be associated with poor outcomes in patients with PCNSL and that these relationships are modified by JARID1A and EZH2.


Assuntos
Histonas , Linfoma , Biomarcadores , Sistema Nervoso Central/metabolismo , Metilação de DNA , Epigênese Genética , Histonas/genética , Histonas/metabolismo , Humanos , Linfoma/diagnóstico , Linfoma/genética , Lisina/metabolismo , Prognóstico
7.
Anim Biosci ; 34(8): 1392-1402, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33561926

RESUMO

OBJECTIVE: The growth rate of pigs is related to differentiation and proliferation of muscle cells, which are regulated by growth factors and expression of growth-related genes. Thus, the objective of this study was to establish optimal culture conditions for Jeju black pig (JBP) muscle cells and determine the relationship of various factors involved in muscle growth with the proliferation of JBP muscle cells. METHODS: Muscles were taken from the femur skeletal muscle of JBP embryos. After isolation of the muscle cells, cells were cultured in a 6-well plate under four different culture conditions to optimize culture conditions for JBP muscle cells. To analyze proliferation rate of JBP muscle cells, these muscle cells were seeded into 6-well plates at a density of 1.5×105 cells per well and cultured for 3 days. Western blot and quantitative real-time polymerase chain reaction were applied to verify the myogenic differentiation 1 (MyoD) expression and growth-related gene expression in JBP muscle cells, respectively. RESULTS: We established a muscle cell line from JBP embryos and optimized its culture conditions. These muscle cells were positive for MyoD, but not for paired box 7. The proliferation rate of these muscle cells was significantly higher in a culture medium containing bFGF and epidermal growth factor + basic fibroblast growth factor (EGF+bFGF) than that without a growth factor or containing EGF alone. Treatment with EGF and bFGF significantly induced the expression of MyoD protein, an important transcription factor in muscle cells. Moreover, we checked the changes of expression of growth-related genes in JBP muscle cells by presence or absence of growth factors. Expression level of collagen type XXI alpha 1 gene was changed only when EGF and bFGF were added together to culture media for JBP muscle cells. CONCLUSION: Concurrent use of EGF and bFGF increased the expression of MyoD protein, thus regulating the proliferation of JBP muscle cells and the expression of growth-related genes.

8.
J Nanosci Nanotechnol ; 21(3): 3192-3196, 2021 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-33404444

RESUMO

We developed self-assembled hybrid dielectric materials via a facile and low-temperature solution process. These dielectrics are used to facilitate ultralow operational voltage of organic thinfilm transistors. Self-assembly of bifunctional phosphonic acid and ultrathin hafnium oxide layers results in the self-assembled hybrid dielectrics. Additionally, the surface property of the top layer of hafnium oxide can be tuned by phosphonic acid-based self-assembled molecules to improve the function of the organic semiconductors. These novel hybrid dielectrics demonstrate great dielectric properties as low-level leakage current densities of <1.45×10-6 A/cm², large capacitances (up to 800 nF/cm²), thermal stability (up to 300 °C), and featureless morphology (root-mean-square roughness ˜0.3 nm). As a result, self-assembled gate dielectrics can be incorporated into thin-film transistors with p-type organic semiconductors functioning at ultralow voltages (<-2 V) to achieve enhanced performance (hole mobility: 0.88 cm²/V·s, and Ion/Ioff: > 105, threshold voltage: 0.5 V).

9.
Cancers (Basel) ; 12(12)2020 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-33291558

RESUMO

PURPOSE: The objective of this study was to investigate the epigenetic role of histone lysine methylation/demethylation on the expression of epithelial-to-mesenchymal transition (EMT) associated transcriptional factors (TFs) during the metastasis of lung adenocarcinoma to the brain. METHODS: Paired samples of lung adenocarcinoma and brain metastasis (BM) were analyzed in 46 individual patients. Both samples were obtained by surgical resection or biopsy of the lung and brain. The paraffin-fixed formalin-embedded samples were obtained from the pathology archives in our institute. In samples of lung adenocarcinoma and BM, immunohistochemical staining was performed for epithelial markers, mesenchymal markers, EMT-TFs, histone lysine methyltransferase and demethylase. RESULTS: The immunoreactivity of EMT-TFs such as Slug (15.6% vs. 42.6%, p = 0.005), Twist (23.6% vs. 45.9%, p = 0.010) and ZEB1 (15.0% vs. 55.9%, p = 0.002) was increased in BM compared with that in lung adenocarcinoma. Epigenetic inducers such as H3K4 methyltransferase (MLL4, p = 0.018) and H3K36me3 demethylase (UTX, p = 0.003) were statistically increased, and epigenetic repressors such as EZH2 (H3K27 methyltransferase, p = 0.046) were significantly decreased in BM compared with those in lung adenocarcinoma. The expression of UTX-ZEB1 (R2 linear = 1.204) and MLL4-Slug (R2 linear = 0.987) was increased in direct proportion, and EZH2-Twist (R2 linear = -2.723) decreased in reverse proportion. CONCLUSIONS: The results suggest that certain histone lysine methyltransferase/demethylase, such as MLL4, UTX, and EZH2, regulate the expression of EMT-TFs such as Slug, ZEB1, and Twist epigenetically, which may thereby influence cancer metastasis from the lung to the brain.

10.
J Pathol Transl Med ; 54(6): 437-452, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33027850

RESUMO

Digital pathology (DP) using whole slide imaging (WSI) is becoming a fundamental issue in pathology with recent advances and the rapid development of associated technologies. However, the available evidence on its diagnostic uses and practical advice for pathologists on implementing DP remains insufficient, particularly in light of the exponential growth of this industry. To inform DP implementation in Korea, we developed relevant and timely recommendations. We first performed a literature review of DP guidelines, recommendations, and position papers from major countries, as well as a review of relevant studies validating WSI. Based on that information, we prepared a draft. After several revisions, we released this draft to the public and the members of the Korean Society of Pathologists through our homepage and held an open forum for interested parties. Through that process, this final manuscript has been prepared. This recommendation contains an overview describing the background, objectives, scope of application, and basic terminology; guidelines and considerations for the hardware and software used in DP systems and the validation required for DP implementation; conclusions; and references and appendices, including literature on DP from major countries and WSI validation studies.

11.
Asian-Australas J Anim Sci ; 33(4): 539-546, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31480194

RESUMO

OBJECTIVE: The Jeju native pig (JNP) found on the Jeju Island of Korea is a unique black pig known for high-quality meat. To investigate the genetic uniqueness of JNP, we analyzed the selection signature of the JNP in comparison to commercial pigs such as Berkshire and Yorkshire pigs. METHODS: We surveyed the genetic diversity to identify the genetic stability of the JNP, using the linkage disequilibrium method. A selective sweep of the JNP was performed to identify the selection signatures. To do so, the population differentiation measure, Weir-Cockerham's Fst was utilized. This statistic directly measures the population differentiation at the variant level. Additionally, we investigated the gene ontologies (GOs) and genetic features. RESULTS: Compared to the Berkshire and Yorkshire pigs, the JNP had lower genetic diversity in terms of linkage disequilibrium decays. We summarized the selection signatures of the JNP as GO. In the JNP and Berkshire pigs, the most enriched GO terms were epithelium development and neuron-related. Considering the JNP and Yorkshire pigs, cellular response to oxygen-containing compound and generation of neurons were the most enriched GO. CONCLUSION: The selection signatures of the JNP were identified through the population differentiation statistic. The genes with possible selection signatures are expected to play a role in JNP's unique pork quality.

12.
J Nanosci Nanotechnol ; 20(2): 1028-1032, 2020 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-31383101

RESUMO

Despite the recent demands of bioinspired superhydrophobic surfaces with self-cleaning properties in various industrial applications, a low-cost fabrication method for superhydrophobic films with excellent stability has rarely been studied. Herein, we report a robust superhydrophobic organic- inorganic hybrid composites film produced via a facile one-step solution-process. As coating materials for the facile one-step fabrication of the robust superhydrophobic films, we included Al2O3 nanoparticles for micro/nano hierarchical dual-scale structures, alkylsilane for low surface energy, and organic cross-linkers for increasing the stability of the hybrid composite films. Based on the hydrophobicity and stability tests of the hybrid composite films, the optimized composition of the robust superhydrophobic hybrid composite films showed high water contact angles (>150°) and low sliding angles (<5°) as well as excellent mechanical and thermal stability (up to 350 °C).

13.
J Microbiol ; 57(4): 238-242, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30929227

RESUMO

A Gram-stain-negative, non-spore-forming, facultative, rod-shaped bacterium (designated LA-28T) was isolated from a sludge sample from a wastewater treatment plant in Hanam city, Republic of Korea. On the basis of 16S rRNA gene sequencing, strain LA-28T clustered with species of the genus Mesorhizobium and appeared closely related to M. jarvisii LMG 28313T (96.8%), M. waimense ICMP 19557T (96.7%), and M. huakuii LMG 14107T (96.7%). Growth occurs at 18-40°C on R2A medium in the presence of 1-4% NaCl (w/v) and at pH 6-8. The DNA G+C content was 61.2 mol%, and the predominant quinone was ubiquinone-10 (Q-10). The major cellular fatty acids (> 5%) were C16:0, C19:0ω8c cyclo, C18:1ω7c 11-methyl, and C18:1ω7c and/or C18:1ω6c (summed feature 8). Major polar lipids were phosphatidylglycerol (PG), phosphatidylethanolamine (PE), phosphatidyl-N-methylethanolamine (PME), and phosphatidylcholine (PC). Physiological and biochemical characteristics indicated that strain LA-28T represents a novel species of the genus Mesorhizobium, for which the name Mesorhizobium denitrificans sp. nov. is proposed. The type strain is LA-28T (= KACC 19675T = LMG 30806T).


Assuntos
Mesorhizobium/isolamento & purificação , Esgotos/microbiologia , Técnicas de Tipagem Bacteriana , Composição de Bases , DNA Bacteriano/genética , Desnitrificação , Ácidos Graxos/metabolismo , Mesorhizobium/classificação , Mesorhizobium/genética , Mesorhizobium/metabolismo , Fosfatidiletanolaminas/metabolismo , Filogenia , RNA Ribossômico 16S/genética , República da Coreia , Ubiquinona/metabolismo
14.
Genes Genomics ; 41(6): 621-628, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30941726

RESUMO

BACKGROUND: The Jeju horse is an indigenous horse breed in Korea. However, there is a severe lack of genomic studies on Korean horse breeds. OBJECTIVE: The objective of this study was to report genomic characteristics of domestic horse populations that inhabit South Korea (Jeju, Jeju crossbred, and Thoroughbred) and a wild horse breed (Przewalski's horse). RESULTS: Using the equine reference genome assembly (EquCab 2.0), more than ~ 6.5 billion sequence reads were successfully mapped, which generated an average of 40.87-fold coverage throughout the genome. Using these data, we detected a total of 12.88 million SNPs, of which 73.7% were found to be novel. All the detected SNPs were deeply annotated to retrieve SNPs in gene regions using the RefSeq and Ensemble gene sets. Approximately 27% of the total SNPs were located within genes, whereas the remaining 73% were found in intergenic regions. Using 129,776 coding SNPs, we retrieved a total of 49,171 nonsynonymous SNPs in 12,351 genes. Furthermore, we identified a total of 10,770 deleterious nonsynonymous SNPs which are predicted to affect protein structure or function. CONCLUSION: We showed numerous genomic variants from domestic and wild horse breeds. These results provide a valuable resource for further studies on functions of SNP-containing genes, and can aid in determining the molecular basis underlying variation in economically important traits of horses.


Assuntos
Genoma , Cavalos/genética , Polimorfismo de Nucleotídeo Único , Animais , Sequenciamento Completo do Genoma
15.
Amino Acids ; 51(3): 495-511, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30519757

RESUMO

Sus scrofa provides a major source of animal protein for humans as well as being an excellent biomedical model. This study was carried out to understand, in detail, the genetic and functional variants of Jeju Native Pigs and miniature pigs through differential expression profiling of the genes controlling their immune response, growth performance, and meat quality. The Illumina HiSeq 2000 platform was used for generating 1.3 billion 90 bp paired-end reads, which were mapped to the S. scrofa genome using TopHat2. A total of 2481 and 2768 genes were differentially expressed with 8-log changes in muscle and liver samples, respectively. Five hundred forty-eight genes in muscle and 642 genes in liver samples had BLAST matches within the non-redundant database. GO process and pathway analyses showed enhanced biological processes related to the extracellular structural organization and skeletal muscle cell differentiation in muscle tissue, whereas the liver tissue shares functions related to the inflammatory response. Herein, we identify inflammatory regulatory genes in miniature pigs and growth response genes in Jeju Native Pigs, information which can provide a stronger base for the selection of breeding stock and facilitate further in vitro and in vivo studies for therapeutic purposes.


Assuntos
Perfilação da Expressão Gênica , Sistema Imunitário/metabolismo , Fígado/metabolismo , Músculo Esquelético/metabolismo , Porco Miniatura/genética , Suínos/genética , Transcriptoma , Animais , Sistema Imunitário/crescimento & desenvolvimento , Sistema Imunitário/imunologia , Fígado/crescimento & desenvolvimento , Fígado/imunologia , Músculo Esquelético/crescimento & desenvolvimento , Músculo Esquelético/imunologia , Suínos/crescimento & desenvolvimento , Suínos/imunologia , Porco Miniatura/crescimento & desenvolvimento , Porco Miniatura/imunologia
16.
Genes Genomics ; 40(11): 1249-1258, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30099720

RESUMO

The Jeju horse is an indigenous Korean horse breed that is currently registered with the Food and Agriculture Organization of the United Nations. However, there is severe lack of genomic studies on Jeju horse. This study was conducted to investigate genetic characteristics of horses including Jeju horse, Thoroughbred and Jeju crossbred (Jeju × Thoroughbred) populations. We compared the genomes of three horse populations using the Equine SNP70 Beadchip array. Short-range Linkage disequilibrium was the highest in Thoroughbred, whereas r2 values were lowest in Jeju horse. Expected heterozygosity was the highest in Jeju crossbred (0.351), followed by the Thoroughbred (0.337) and Jeju horse (0.311). The level of inbreeding was slightly higher in Thoroughbred (- 0.009) than in Jeju crossbred (- 0.035) and Jeju horse (- 0.038). FST value was the highest between Jeju horse and Thoroughbred (0.113), whereas Jeju crossbred and Thoroughbred showed the lowest value (0.031). The genetic relationship was further assessed by principal component analysis, suggesting that Jeju crossbred is more genetically similar to Thoroughbred than Jeju horse population. Additionally, we detected potential selection signatures, for example, in loci located on LCORL/NCAPG and PROP1 genes that are known to influence body. Genome-wide analyses of the three horse populations showed that all the breeds had somewhat a low level of inbreeding within each population. In the population structure analysis, we found that Jeju crossbred was genetically closer to Thoroughbred than Jeju horse. Furthermore, we identified several signatures of selection which might be associated with traits of interest. To our current knowledge, this study is the first genomic research, analyzing genetic relationships of Jeju horse, Thoroughbred and Jeju crossbred.


Assuntos
Cavalos/genética , Polimorfismo de Nucleotídeo Único , Animais , Tamanho Corporal/genética , Cruzamentos Genéticos , Genoma , Técnicas de Genotipagem/normas , Heterozigoto , Endogamia , Desequilíbrio de Ligação , Análise de Sequência com Séries de Oligonucleotídeos , Análise de Componente Principal
17.
BMC Genet ; 17: 35, 2016 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-26847462

RESUMO

BACKGROUND: This study was performed to identify the non- synonymous polymorphisms in the myosin heavy chain 1 gene (MYH1) association with skeletal muscle development in economically important Jeju Native Pig (JNP) and Berkshire breeds. Herein, we present an in silico analysis, with a focus on (a) in silico approaches to predict the functional effect of non-synonymous SNP (nsSNP) in MYH1 on growth, and (b) molecular docking and dynamic simulation of MYH1 to predict the effects of those nsSNP on protein-protein association. RESULTS: The NextGENe (V 2.3.4.) tool was used to identify the variants in MYH1 from JNP and Berkshire using RNA seq. Gene ontology analysis of MYH1 revealed significant association with muscle contraction and muscle organ development. The 95 % confidence intervals clearly indicate that the mRNA expression of MYH1 is significantly higher in the Berkshire longissimus dorsi muscle samples than JNP breed. Concordant in silico analysis of MYH1, the open-source software tools identified 4 potential nsSNP (L884T, K972C, N981G, and Q1285C) in JNP and 1 nsSNP (H973G) in Berkshire pigs. Moreover, protein-protein interactions were studied to investigate the effect of MYH1 mutations on association with hub proteins, and MYH1 was found to be closely associated with the protein myosin light chain, phosphorylatable, fast skeletal muscle MYLPF. The results of molecular docking studies on MYH1 (native and 4 mutants) and MYLFP demonstrated that the native complex showed higher electrostatic energy (-466.5 Kcal mol(-1)), van der Walls energy (-87.3 Kcal mol(-1)), and interaction energy (-835.7 Kcal mol(-1)) than the mutant complexes. Furthermore, the molecular dynamic simulation revealed that the native complex yielded a higher root-mean-square deviation (0.2-0.55 nm) and lower root-mean-square fluctuation (approximately 0.08-0.3 nm) as compared to the mutant complexes. CONCLUSIONS: The results suggest that the variants at L884T, K972C, N981G, and Q1285C in MYH1 in JNP might represent a cause for the poor growth performance for this breed. This study is a pioneering in-depth in silico analysis of polymorphic MYH1 and will serve as a valuable resource for further targeted molecular diagnosis and population-based studies conducted for improving the growth performance of JNP.


Assuntos
Músculo Esquelético/fisiologia , Cadeias Pesadas de Miosina/genética , Polimorfismo de Nucleotídeo Único , Suínos/crescimento & desenvolvimento , Suínos/genética , Animais , Cruzamento , Feminino , Ontologia Genética , Desequilíbrio de Ligação , Modelos Moleculares , Simulação de Acoplamento Molecular , Contração Muscular/fisiologia , Mutação , Locos de Características Quantitativas , RNA Mensageiro/genética , Reprodutibilidade dos Testes , Análise de Sequência de RNA , Software
18.
J Korean Neurosurg Soc ; 59(1): 26-36, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26885283

RESUMO

OBJECTIVE: This study investigated whether pyrosequencing can be used to determine the methylation status of the MGMT promoter as a clinical biomarker using relatively old archival tissue samples of glioblastoma. We also examined other prognostic factors for survival of glioblastoma patients. METHODS: The available study set included formalin-fixed paraffin-embedded (FFPE) tissue from 104 patients at two institutes from 1997 to 2012, all of which were diagnosed histopathologically as glioblastoma. Clinicopathologic data were collected by review of medical records. For pyrosequencing analysis, the PyroMark Q96 CpG MGMT kit (Qiagen, Hilden, Germany) was used to detect the level of methylation at exon 1 positions 17-39 of the MGMT gene, which contains 5 CpGs. RESULTS: Methylation of the MGMT promoter was detected in 43 (41.3%) of 104 samples. The average percentage methylation was 14.0±16.8% overall and 39.0±14.7% for methylated cases. There was no significant pattern of linear increase or decrease according to the age of the FFPE block (p=0.687). In multivariate analysis, age, performance status, extent of surgery, method of adjuvant therapy, and methylation status estimated by pyrosequencing were independently associated with overall survival. Additionally, patients with a high level of methylation survived longer than those with low methylation (p=0.016). CONCLUSION: In this study, the status and extent of methylation of the MGMT promoter analyzed by pyrosequencing were associated with overall survival in glioblastoma patients. Pyrosequencing is a quantitative method that overcomes the problems of MSP and a simple technique for accurate analysis of DNA sequences.

19.
Clin Imaging ; 39(6): 1105-7, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26278012

RESUMO

We present the case of 51-year-old woman with a primary breast leiomyosarcoma. On the postoperative screening after breast cancer surgery, a 4-mm-sized mass assessed as BI-RADS category 3 was detected on her contralateral breast. We recommended follow-up and observation. However, the lesion increased in size and became palpable. It was excised and diagnosed as primary leiomyosarcoma. We review the literature on imaging findings and management of breast leiomyosarcoma, and discuss the differential diagnoses in breast imaging.


Assuntos
Neoplasias da Mama/diagnóstico , Leiomiossarcoma/diagnóstico , Mamografia/métodos , Mama/patologia , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/patologia , Diagnóstico Diferencial , Feminino , Humanos , Leiomiossarcoma/diagnóstico por imagem , Leiomiossarcoma/patologia , Pessoa de Meia-Idade , Ultrassonografia Mamária
20.
J Clin Imaging Sci ; 5: 41, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26312139

RESUMO

Pilomyxoid astrocytoma (PMA) is a rare central nervous system tumor that has been included in the 2007 World Health Organization Classification of Tumors of the Central Nervous System. Due to its more aggressive behavior, PMA is classified as Grade II neoplasm by the World Health Organization. PMA predominantly affects the hypothalamic/chiasmatic region and occurs in children (mean age of occurrence = 10 months). We report a case of a 24-year-old man who presented with headache, nausea, and vomiting. Brain CT and MRI revealed a mass occupying only the third ventricle. We performed partial resection. Histological findings, including monophasic growth with a myxoid background, and absence of Rosenthal fibers or eosinophilic granular bodies, as well as the strong positivity for glial fibrillary acidic protein were consistent with PMA.

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