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A set of high-quality pan-genomes would help identify important genes that are still hidden/incomplete in bird reference genomes. In an attempt to address these issues, we have assembled a de novo chromosome-level reference genome of the Silkie (Gallus gallus domesticus), which is an important avian model for unique traits, like fibromelanosis, with unclear genetic foundation. This Silkie genome includes the complete genomic sequences of well-known, but unresolved, evolutionarily, endocrinologically, and immunologically important genes, including leptin, ovocleidin-17, and tumor-necrosis factor-α. The gap-less and manually annotated MHC (major histocompatibility complex) region possesses 38 recently identified genes, with differentially regulated genes recovered in response to pathogen challenges. We also provide whole-genome methylation and genetic variation maps, and resolve a complex genetic region that may contribute to fibromelanosis in these animals. Finally, we experimentally show leptin binding to the identified leptin receptor in chicken, confirming an active leptin ligand-receptor system. The Silkie genome assembly not only provides a rich data resource for avian genome studies, but also lays a foundation for further functional validation of resolved genes.
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Pollos , Leptina , Animales , Pollos/genética , Leptina/genética , Genoma , Genómica , CromosomasRESUMEN
Purpose To investigate the expression status and their clinical significances of c-MET, epidermal growth factor receptor (EGFR) and human epidermal growth factor receptor-2 (HER-2) in gastric adenocarcinoma (GC). Methods Tissue samples from 442 cases of GC in patients who accepted D2/D3 radical gastrectomy with R0 resection were stained by immunohistochemistry against c-MET, EGFR and HER-2.Results Over expression of c-MET, EGFR and HER-2 was identified in 195/442 (44.1%), 47/442 (10.6%) and 152/442 (34.4%) GC patients, respectively. Over expression of cMET was more often identified in GC patients with deeper T (P= 0.016), nerve involvement (P = 0.006) and the Lauren diffuse type (P = 0.029). EGFR in cases with vessel permeation (P = 0.012), and HER-2 in cases of distant metastasis (P =0.031), non-nerve involvement (P = 0.024), the Lauren intestinal type (P < 0.001) and G1/G2 grade (P < 0.001). Conclusion The receptors tyrosine kinase (RTKs) markers of cMET, EGFR and HER-2 might involve in the advance of GC, such as invasion and metastasis. The expression status of them could be used as the risk prediction and even the basis for future personalized therapy, especially for tyrosine kinase inhibitor (TKI) therapy, for GC patients.
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<p><b>OBJECTIVE</b>To assess the effect of Guifu Dihuang Wan (GFDHW) in the treatment of yang deficiency and explore the underlying molecular mechanism.</p><p><b>METHODS</b>Sixty-two participants without diseases were randomized into control group (n=31) and experimental group (n=31) and were given lifestyle intervention additional GFDHW treatment for a month. NMR technology was used for metabonomics analysis.</p><p><b>RESULTS</b>Intervention with GFDHW resulted in significantly decreased conversion scores of yang deficiency in the experimental group compared with the control group (P<0.005). The concentrations of lactate, valine, proline, arginine and 3-hydroxybutyrate were increased in the plasma of yang-deficient subjects after lifestyle intervention. GFDHW treatment with lifestyle intervention significantly increased the concentrations of lactate, valine, proline, arginine and 3-hydroxybutyrate and also the levels of alanine, glutamine, alpha glucose, isoleucine, betaine and propylene glycol.</p><p><b>CONCLUSION</b>GFDHW treatment improves yang deficiency possibly by increasing the concentrations of alanine, glutamine, alpha glucose, isoleucine, betaine and propylene glycol and promoting energy metabolism of the body.</p>
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<p><b>OBJECTIVE</b>To determine evaluate the effect of health-promoting lifestyle on the outcomes of suboptimal health status (SHS).</p><p><b>METHODS</b>A prospective population cohort was conducted by consecutively enrolling 5676 college students who took routine health examination from March to May 2013. The participants were assessed for baseline health status and lifestyle and 2972 participants with SHS were followed up for 1.5 years. Exposure was defined as an unhealthy lifestyle. The health-promoting lifestyle was assessed via the Health-promoting Lifestyle Profile (HPLP-II). SHS was evaluated using the medical examination report and Sub-health Measurement Scale V1.0 (SHMS V1.0).</p><p><b>RESULTS</b>Among the 2972 students with SHS, 422 showed recovery of the healthy status at 1.5 year follow-up, 579 showed progression into disease conditions, and 1971 remained in SHS. The participants with recovered health status presented with significant increase of SHMS V1.0 scores by 8.75∓6.95 points compared to the baseline assessment (t=-2.14, P=0.000) in physiological, psychological and social dimensions; they also showed a marked improvement of HPLP-II scores by 14.73 points in 6 dimensions (t=-15.34, P=0.000). Multivariable regression analyses with adjusted demographic variables revealed a significant association between health status and health-promoting lifestyle (P<0.05). Compared with a healthy lifestyle (minimal exposure), a 'poor' lifestyle (the highest level of exposure) was associated with a 30 times higher risk of developing SHS (OR: 30.598, 95% CI: 3.928-238.331), while a 'moderate' lifestyle (a relatively high-level exposure) had a 24 times higher risk of SHS (OR: 23.988, 95%CI: 14.695-39.158), and a suboptimal lifestyle had a nearly 4 times higher risk of SHS (OR: 4.306, 95%CI: 2.767-6.702).</p><p><b>CONCLUSION</b>s SHS may evolve into either a healthy or a disease condition. A unhealthy lifestyle is the important risk factor contributing to the progression of SHS into a disease condition, suggesting the importance of intervention of unhealthy lifestyles in promoting good health.</p>
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Humanos , Conductas Relacionadas con la Salud , Estado de Salud , Estilo de Vida Saludable , Estudios Prospectivos , Análisis de Regresión , Factores de Riesgo , EstudiantesRESUMEN
<p><b>OBJECTIVE</b>To investigate associations between health-promoting lifestyle and suboptimal health status (SHS) in the population of Guangdong province.</p><p><b>METHODS</b>A cross-sectional survey was conducted in a clustered sample of 24 159 individuals aged 12-80 years from 2012 to 2013. Health-promoting lifestyle was assessed via the Health-Promoting Lifestyle Profile (HPLP-II), and SHS was evaluated using the medical examination report and Sub-health Measurement Scale V1.0 (SHMS V1.0).</p><p><b>RESULTS</b>Of the 24159 participants, subjects with SHS (46.0%) and disease status (35.2%) accounted for a much higher percentage than healthy subjects (18.8%). Regression analyses revealed a significant association between health status and healthy lifestyle (P<0.001). Unhealthy lifestyle was an important risk factor for SHS and disease, especially the former. Compared with the participants with a healthy lifestyle (minimal exposure), after demographic adjustment, subjects with a 'poor' lifestyle (maximal exposure) were at a 43 times higher risk of developing SHS (OR: 42.825, 95% CI: 30.567-59.997), those with a general lifestyle were at a 21 times higher risk of SHS (OR: 21.072, 95%CI: 17.258-25.729), and those with a suboptimal lifestyle had a 4 times higher risk (OR: 4.085, 95%CI: 3.352-4.979). In the general population, the major risk factors for SHS included poor stress management, poor self-actualization, inactive exercise and poor interpersonal relationship.</p><p><b>CONCLUSION</b>s Unhealthy lifestyles are significantly related to an increased risk of SHS. Intervention of unhealthy lifestyles, controlling the risk factors of SHS, and rigorous management of the time window of SHS are necessary to promote the heath status.</p>
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Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Humanos , Persona de Mediana Edad , Adulto Joven , Estudios Transversales , Promoción de la Salud , Estado de Salud , Estilo de Vida , Análisis de Regresión , Factores de RiesgoRESUMEN
<p><b>OBJECTIVE</b>To study the clinicopathologic features, differential diagnosis and prognosis of renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions.</p><p><b>METHODS</b>The histopathologic findings and immunophenotype of 11 cases of renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions were studied. Follow-up data (ranged from 10 to 112 months) were also analyzed.</p><p><b>RESULTS</b>There were a total of 7 females and 4 males. The age of patients ranged from 8 to 26 years (mean = 16.3 years). The diameter of the tumors varied from 2.5 to 6.0 cm. Histologically, two morphologic patterns were seen. The first pattern consisted of alveolar, papillary or nested architecture. The tumor cells contained voluminous, clear to eosinophilic cytoplasm, distinct cell borders, vesicular chromatin, and prominent nucleoli. Psammoma bodies were frequently found and could be abundant. In contrast, the second pattern was composed of nested and compact architecture. The tumor cells possessed less abundant cytoplasm and inconspicuous nucleoli. Few psammoma bodies were detected. Immunohistochemical study showed that all cases strongly expressed TFE3, CD10 and P504s. Variable positivity for pan-cytokeratin, epithelial membrane antigen and vimentin was also noted. None of them expressed CK7, Ksp-cadherin and CD117.</p><p><b>CONCLUSIONS</b>Renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions is a newly described but rarely encountered subtype of renal cell carcinoma. Pathologic diagnosis can be established when taken age of the patients, histopathologic findings and immunoreactivity for TFE3 protein into consideration.</p>
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Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Adulto Joven , Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice , Metabolismo , Carcinoma de Células Renales , Genética , Metabolismo , Cromosomas Humanos X , Estudios de Seguimiento , Fusión Génica , Neoplasias Renales , Genética , Metabolismo , Neprilisina , Metabolismo , Racemasas y Epimerasas , Metabolismo , Translocación GenéticaRESUMEN
<p><b>OBJECTIVE</b>To study the clinicopathologic features, prognostic indicators and possible etiology of primary non-Hodgkin lymphoma of bone (PNHLB).</p><p><b>METHODS</b>The clinicopathologic features of 17 cases of PNHLB were reviewed. In-situ hybridization for Epstein-Barr virus early RNA (EBER) and polymerase chain reaction for bcl-2/JH gene rearrangement were performed using paraffin-embedded materials. The correlation between serum lactic dehydrogenase level, treatment options, international prognostic indicator (IPI) and immunophenotype with clinical outcome were analyzed.</p><p><b>RESULTS</b>The majority of the 17 cases studied was diffuse large B-cell lymphoma (94.1%). The 5-year survival rate was 68.8%. Unfavorable prognostic factors included high-risk IPI (P = 0.031) and bcl-2 overexpression (P = 0.028). Treatment options and expression of CD10, MUM-1 or bcl-6 did not correlate with clinical outcome (P > 0.05). Only 1 patient was positive for EBER, as demonstrated by in-situ hybridization.</p><p><b>CONCLUSIONS</b>The clinical outcome of PNHLB is relatively favorable. IPI and bcl-2 expression may serve as useful prognostic indicators. EBV is likely not related to pathogenesis of this type of lymphoma.</p>