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OBJECTIVE: To explore the clinical efficacy of antibiotic bone cement covered reconstruction steel plate in the treatment of infected anterior pelvic ring fracture. METHODS: From January 2017 to March 2022, 11 patients with infected anterior pelvic ring fracture were treated with antibiotic bone cement covered reconstruction steel plate including 7 males and 4 females and the age ranged from 27 to 49 years old. The pelvic fractures were classified according to the Tile typology: 4 cases of C1 type, 4 cases of C2 type, and 3 cases of C3 type. Among them, 2 cases of infected anterior ring were infected after internal fixation of anterior ring, and 9 patients were infected with infected anterior ring due to incomplete early debridement, which was classified as infected according to the injury severity score(ISS) for 24 to 38 scores. The anterior ring was internally fixed by extended debridement, irrigation, and antibiotic bone cement covered reconstruction plate, and the posterior ring fractures were all closed reduction and internally fixed with sacroiliac screws. RESULTS: All 11 cases obtained follow-up from 13 to 20 months. Among them, 2 patients had recurrence of postoperative infection, 1 case was re-dissected and replaced with antibiotic bone cement-coated internal fixation, and 1 case had a milder infection without accumulation of the medullary cavity, and the infection was controlled by retaining the plate and replacing the antibiotic bone cement only after dissecting. Two cases developed incisional oozing, which healed after removal of the internal fixation three months postoperatively. All patients did not show pelvic fracture redisplacement or reinfection during the follow-up period. All 11 cases eventually healed bony. At the final follow-up, according to the Matta score, the fracture reduction was excellent in 6 cases, good in 4, and possible in 1. According to the Majeed functional score, it was excellent in 6, good in 3, and possible in 2. CONCLUSION: Antibiotic bone cement covered reconstruction plate is effective in the treatment of infected anterior pelvic ring fracture, with high intraoperative safety and low recurrence rate of infection, which is conducive to the early postoperative rehabilitation and significantly shortens the course of the disease.
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Antibacterianos , Cimentos Ósseos , Placas Ósseas , Fixação Interna de Fraturas , Fraturas Ósseas , Ossos Pélvicos , Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Ossos Pélvicos/lesões , Ossos Pélvicos/cirurgia , Fraturas Ósseas/cirurgia , Antibacterianos/administração & dosagem , Antibacterianos/uso terapêutico , Fixação Interna de Fraturas/métodos , Procedimentos de Cirurgia Plástica/métodosRESUMO
BACKGROUND: The performance of thyroidectomies has been increasing over the last decade due to the growing prevalence of thyroid diseases. The purpose of this study was to investigate the clinical significance of preoperative vocal cord paralysis (VCP) associated with thyroid disease and other incidences of malignant or benign lesions, as well as different thyroid pathological features. Additionally, the epidemiological changes of thyroid diseases with preoperative VCP were investigated. METHODS: Ninety-nine out of 12,530 patients with preoperative VCP who had undergone thyroid surgery for various diseases in the Zhejiang Cancer Hospital from January 2007 to December 2015 were identified. Their clinicopathological data was recorded and case distributions from different years and intraoperative recurrent laryngeal nerve statuses were retrospectively analyzed. RESULTS: The incidence of preoperative VCP in 2007 was reported to be 1.53% (9/590) and had decreased to 0.53% (12/2,247) by 2015 (P < 0.05). Among the 99 patients with preoperative VCP, 81 had malignancies (81.82%), while 18 (18.18%) had benign thyroid diseases. The incidences of preoperative VCP in malignant and benign diseases were 1.13% (81/7,159) and 0.35% (18/5,371), respectively (P < 0.05). There were only 5 (0.04%, 5/12,530) cases of papillary thyroid microcarcinoma with preoperative VCP. There was no statistical difference between the incidence of preoperative hoarseness in malignant 69.14% (56/81) and benign diseases 61.11% (11/18) with preoperative VCP. CONCLUSIONS: The preoperative VCP incidence rate had gradually decreased with an increased proportion of papillary thyroid cancer. Preoperative voice symptoms do not necessarily suggest a malignancy. Selective rather than routine preoperative laryngoscopic examinations should be performed on papillary thyroid microcarcinomas. The probability of preoperative VCP in malignancy was significantly higher than in benign lesions.
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BACKGROUND: prognosis, identify clinicopathological characteristics, and determine optimal modalities for cT1N0M0 solitary papillary thyroid carcinoma in the isthmus (PTCI). METHODS: The clinical data of 124 patients with cT1N0M0 solitary PTCI from 3 medical centers were analyzed retrospectively. Of these, 32 participants had undergone total thyroidectomy plus unilateral central neck dissection, 36 had received total thyroidectomy plus bilateral central neck dissection, 24 had less-than-total thyroidectomy plus unilateral central neck dissection, and 32 had less-than-total thyroidectomy plus bilateral central neck dissection. We compared the effects of different surgical modalities and clinicopathological characteristics on the prognosis of cT1N0M0 solitary PTCI. RESULTS: There was no significant difference in postoperative recurrence-free survival between participants who received different extents of central region lymph node dissection and thyroidectomies (P>0.05). Temporary hypocalcemia occurred in participants who underwent total thyroidectomy plus bilateral central neck dissection [chi-square (χ2) =7.87, P=0.005]. Tumors with primary lesions ≥0.55 cm were prone to have central lymph node metastasis [95% confidence interval (CI): 0.51 to 0.71, P=0.047]. Multiple logistic analysis suggested that age over 55 years [odds ratio (OR) =11.90, 95% CI: 1.36 to 104.03, P=0.025], tumor size greater than 0.55 cm (OR =4.16, 95% CI: 1.28 to 13.52, P=0.018), and absence of nodular goiter (OR =2.57, 95% CI: 1.05 to 6.32, P=0.04) were risk factors for central lymph node metastasis of patients with cT1N0M0 solitary PTCI. CONCLUSIONS: Less-than-total thyroidectomy is recommended for patients with cT1N0M0 solitary PTCI. Central lymph node dissection is recommended for patients who are prone to have central occult lymph node metastases with tumor size ≥55 cm, older than 55 years, and without nodular goiter.
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BACKGROUND: We aimed to explore whether the anatomic extent of lymph node metastases (AE-LNM) could independently predict prognosis of node-positive major salivary gland carcinoma (MaSGC). METHODS: A total of 376 pathologically node-positive MaSGC patients were identified from the Surveillance, Epidemiology and End Results database and constituted the training cohort. Using the X-Tile program, these patients were divided into three groups based on AE-LNM degrees. Discrimination of overall survival (OS) and disease-specific survival (DSS) was evaluated and compared with the 8th American Joint Committee on Cancer (AJCC) pN classification. The results were externally validated by 220 patients in a Chinese multicenter cohort (Validation cohort). RESULTS: Using the training cohort, AE-LNM was divided into Extent 1 (spread to parotid LNs or level I), Extent 2 (spread to level II-IV) and Extent 3 (spread to level V or bilateral LNs or rare LNs). Regarding both OS and DSS, the AE-LNM model revealed clear separation of survival curves, while the pN classification failed to discriminate the prognosis of pN1 and pN2 patients. When we incorporated both the AE-LNM model and AJCC pN classification into the same multivariate Cox analyses, AE-LNM was still an independent prognostic factor, while the AJCC pN classification lost its significance. These results were externally validated by the validation cohort. CONCLUSION: AE-LNM is an independent nodal prognosticator for node-positive MaSGC and may have improved discriminative ability over the current AJCC pN classification. Integration of anatomic extent of LNM into the current AJCC N classification could be considered.
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Adenocarcinoma/patologia , Linfonodos/patologia , Neoplasias das Glândulas Salivares/patologia , Adulto , Idoso , Carcinoma de Células Acinares/patologia , Carcinoma Adenoide Cístico/patologia , Carcinoma Ductal/patologia , Carcinoma Mucoepidermoide/patologia , China , Estudos de Coortes , Feminino , Humanos , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Estadiamento de Neoplasias , Neoplasias Parotídeas/patologia , Prognóstico , Programa de SEER , Taxa de Sobrevida , Estados UnidosRESUMO
Smoking is a risk factor associated with bone and oral diseases, particularly periodontitis. Nicotine, the major toxic component of tobacco, is able to affect the quality and quantity of bone. Osteoblasts serve an important role in bone formation. Thus far, the effects of nicotine on metabolismassociated gene and protein expression in osteoblasts have been controversial and the mechanisms remain unclear. The present study assessed alterations in osteogenic activity by performing a Cell Counting kit8 assay to investigate proliferation, Annexin Vfluorescein isothiocyanate/propidium iodide staining to investigate apoptosis, alizarin red staining to investigate the formation of mineralized nodules, reverse transcriptionquantitative polymerase chain reaction and western blotting to investigate the mRNA and protein levels of collagen I, alkaline phosphatase, bone osteocalcin, bone sialoprotein and osteopontin; and mRNA microarray expression analysis, Kyoto Encyclopedia of Genes and Genomes and Gene Ontology analysis to investigate the whole genome expression profile of SpragueDawley (SD) rat primary osteoblasts following treatment with different concentrations of nicotine. The results demonstrated that nicotine inhibited proliferation, promoted early apoptosis and inhibited mineralized nodule formation in a dosedependent manner by regulating alkaline phosphatase activity and the expression of osteoblast metabolismassociated genes and proteins. According to microarray analysis, several genes associated with bone metabolism and genes in the Hedgehog and Notch signaling pathways were downregulated significantly in nicotinetreated osteoblasts. The results of the present study indicated that nicotine may serve an inhibitory, dosedependent role in SD rat primary osteoblasts that may be caused by the perturbation of genes and signaling pathways associated with bone formation. These results may provide a theoretical basis for future research regarding bone metabolism and targeted treatment of oral diseases associated with smoking.
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Metabolismo Energético/efeitos dos fármacos , Regulação da Expressão Gênica/efeitos dos fármacos , Nicotina/farmacologia , Osteoblastos/efeitos dos fármacos , Osteoblastos/metabolismo , Transcriptoma , Animais , Apoptose/efeitos dos fármacos , Apoptose/genética , Biomarcadores , Proliferação de Células/efeitos dos fármacos , Osteogênese/efeitos dos fármacos , Ratos , Ratos Sprague-DawleyRESUMO
PURPOSE: To compare the efficacy and safety profiles of LigaSure™ small jaw instrument (LSJI) versus conventional technique in patients undergoing open thyroidectomy. METHODS: This single-center, prospective, observational study conducted in Zhejiang Provincial Cancer Hospital enrolled patients who underwent thyroidectomy between September 2013 and September 2014. The primary study outcomes included determination of blood loss, operative duration, length of hospital stay, and drainage volume. The secondary outcomes included evaluation of recurrent laryngeal nerve palsy, postoperative bleeding, and hypoparathyroidism. RESULTS: A total of 842 patients undergoing thyroidectomy either with conventional method (n = 440) or with LSJI (n = 402) were enrolled. A significantly reduced operative time and intraoperative blood loss were noted in the LSJI group (p < .001) compared with the conventional group. Further, the LSJI group also demonstrated a significantly lower postoperative drainage (p < .05) compared with the conventional group. Length of hospital stay and incidence of postoperative complications were similar in both the LSJI and conventional groups. CONCLUSION: LigaSure hemostasis in thyroidectomy appears to result in significantly reduced operative time, intraoperative blood loss, and postoperative drainage compared with the conventional method in Chinese patients.
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Perda Sanguínea Cirúrgica/prevenção & controle , Hemostasia Cirúrgica/instrumentação , Hipoparatireoidismo/prevenção & controle , Complicações Pós-Operatórias/prevenção & controle , Hemorragia Pós-Operatória/prevenção & controle , Tireoidectomia , Adulto , Idoso , Desenho de Equipamento , Feminino , Hemostasia Cirúrgica/métodos , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Duração da Cirurgia , Período Pós-Operatório , Estudos Prospectivos , Tireoidectomia/efeitos adversos , Tireoidectomia/instrumentação , Tireoidectomia/métodosRESUMO
BACKGROUND/AIMS: Newly identified IL-10-producing regulatory B cells (Bregs) have been shown to play an important role in the suppression of immune responses. Chronic immune activation participates in the pathogenesis of dilated cardiomyopathy (DCM) but whether Bregs are involved in its development remains unclear. We aimed to investigate the circulating frequency and function of Bregs in DCM. METHODS: In total, 35 DCM patients (20 men and 15 women) and 44 healthy controls (23 men and 21 women) were included in the experiment, and the frequency of Bregs was detected using flow cytometry. RESULTS: According to our results, the frequency of circulating IL-10-producing Bregs was significantly lower in DCM patients compared with healthy controls. Furthermore, the CD24hiCD27+ B cell subset in which IL-10-producing Bregs were mainly enriched from DCM patients showed impaired IL-10 expression and a decreased ability to suppress the TNF-α production of CD4+CD25- Tconv cells and to maintain Tregs differentiation. Correlation analysis showed that the frequency of IL-10-producing Bregs and the suppressive function of CD24hiCD27+ B cells were positively correlated with left ventricular ejection fraction and negatively correlated with NT-proBNP in DCM patients. CONCLUSIONS: In conclusion, the reduced frequency and impaired functions suggest a potential role of Bregs in the development of DCM.
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Linfócitos B Reguladores/metabolismo , Cardiomiopatia Dilatada/patologia , Adulto , Idoso , Linfócitos B Reguladores/citologia , Antígeno CD24/metabolismo , Linfócitos T CD4-Positivos/citologia , Linfócitos T CD4-Positivos/metabolismo , Cardiomiopatia Dilatada/imunologia , Cardiomiopatia Dilatada/metabolismo , Estudos de Casos e Controles , Diferenciação Celular , Proliferação de Células , Feminino , Ventrículos do Coração/diagnóstico por imagem , Humanos , Interleucina-10/metabolismo , Leucócitos Mononucleares/citologia , Masculino , Pessoa de Meia-Idade , Peptídeo Natriurético Encefálico/análise , Peptídeo Natriurético Encefálico/metabolismo , Fragmentos de Peptídeos/análise , Fragmentos de Peptídeos/metabolismo , Linfócitos T Reguladores/citologia , Linfócitos T Reguladores/metabolismo , Membro 7 da Superfamília de Receptores de Fatores de Necrose Tumoral/metabolismo , Fator de Necrose Tumoral alfa/metabolismoRESUMO
OBJECTIVE: To study the clinical characteristics, treatment, and prognosis of thyroid cancer in children and adolescents. METHODS: We performed a retrospective analysis of clinical data from 83 cases of thyroid cancer in children and adolescents from January 1990 to December 2010. We compared extra-thyroid extension, lymph node metastasis, distant metastasis, and prognosis between pediatric patients ≤12 years of age (27 cases) and those >12 years of age (56 cases). All the patients agreed to undergo thyroidectomy and endocrine therapy, and the consent was obtained from parents or guardians. RESULTS: Histopathology included papillary carcinoma in 67 cases, papillary carcinoma with partial follicular growth pattern in 1 case, papillary carcinoma with squamous metaplasia in 4 cases, follicular carcinoma in 7 cases, medullary carcinoma in 3 cases, and poorly differentiated carcinoma in 1 case. The total lymph node metastasis rate was 78.31%. Patients ≤12 years of age showed a higher rate of lymph node metastasis than the older group (92.59% vs. 71.43%, P=0.028). The incidence rate in females in the older group was higher than that in the younger group (80.36% vs. 59.26%, P=0.041). There were no significant differences in extra-thyroid extension, distant metastasis, survival rate, or recurrent disease between the two groups. CONCLUSIONS: The lymph node metastasis of thyroid cancer is higher in patients ≤12 years of age than in those >12 years of age; the incidence rate is higher in females than in males. Childhood thyroid cancer has a good prognosis, surgery being the most effective treatment. Choosing a reasonable surgery method and comprehensive postoperative treatment can achieve a cure and satisfactory survival rate.
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Terapia de Reposição Hormonal/mortalidade , Avaliação de Sintomas/métodos , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/terapia , Tireoidectomia/mortalidade , Adolescente , Distribuição por Idade , Criança , Pré-Escolar , China/epidemiologia , Diagnóstico Diferencial , Feminino , Terapia de Reposição Hormonal/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Metástase Linfática , Masculino , Prevalência , Fatores de Risco , Distribuição por Sexo , Taxa de Sobrevida , Neoplasias da Glândula Tireoide/mortalidade , Tireoidectomia/estatística & dados numéricos , Resultado do TratamentoRESUMO
BACKGROUND/AIMS: Recent studies have shown that circulating microRNAs (miRNAs) are emerging as promising biomarkers for cardiovascular diseases. This study aimed to determine whether miR-19b-3p, miR-134-5p and miR-186-5p can be used as novel indicators for acute myocardial infarction (AMI). METHODS: To investigate the kinetic expression of the three selected miRNAs, we enrolled 18 patients with AMI and 20 matched controls. Plasma samples were collected from each participant, and total RNA was extracted. Quantitative real-time PCR and ELISA assays were used to investigate the expression of circulating miRNAs and cardiac troponin I (cTnI), respectively. Plasma samples from another age- and gender-matched cohort were collected to investigate the impact of medications for AMI on the expression of the selected miRNAs. RESULTS: Levels of plasma miR-19b-3p, miR-134-5p and miR-186-5p were significantly increased in early stage of AMI. Plasma miR-19b-3p and miR-134-5p levels reached peak expression immediately after admission (T0), whereas miR-186-5p achieved peak expression at 4 h after T0. All of these times were earlier than the peak for cTnI (8 h after T0). In addition, all three miRNAs were positively correlated with cTnI. Receiver Operating Characteristic (ROC) analysis indicated that each single miRNA showed considerable diagnostic efficiency for predicting AMI. Furthermore, combining all three miRNAs in a panel increased the efficiency of distinguishing between patients with AMI and controls. Moreover, we found that heparin and medications for AMI did not impact the expression of these circulating miRNAs. CONCLUSION: Circulating miR-19b-3p, miR-134-5p and miR-186-5p could be considered promising novel diagnostic biomarkers for the early phase of AMI.
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MicroRNAs/sangue , Infarto do Miocárdio/diagnóstico , Infarto do Miocárdio/genética , Adulto , Idoso , Diagnóstico Precoce , Feminino , Regulação da Expressão Gênica , Marcadores Genéticos/genética , Humanos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/metabolismo , Curva ROC , Troponina I/genética , Troponina I/metabolismoRESUMO
The aim of the present study was to identify potential therapeutic targets for papillary thyroid carcinoma (PTC) and to investigate the possible mechanism underlying this disease. The gene expression profile, GSE53157, was downloaded from the Gene Expression Omnibus database. Only 10 chips, including 3 specimens of normal thyroid tissues and 7 specimens of well-differentiated thyroid carcinomas, were analyzed in the present study. Differentially-expressed genes (DEGs) between PTC patients and normal individuals were identified. Next, Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses of DEGs were performed. Modules in the protein-protein interaction (PPI) network were identified. Significant target genes were selected from the microRNA (miRNA) regulatory network. Furthermore, the integrated network was constructed with the miRNA regulatory and PPI network modules, and key target genes were screened. A total of 668 DEGs were identified. Modules M1, M2 and M3 were identified from the PPI network. From the modules, DEGs of cyclin-dependent kinase inhibitor 1A, S100 calcium binding protein A6 (S100A6), dual specificity phosphatase 5, keratin 19, met proto-oncogene (MET) and lectin galactoside-binding soluble 3 were included in the Malacards database. In the miRNA regulatory and integrated networks, genes of cyclin-dependent kinase inhibitor 1C (CDKN1C), peroxisome proliferator-activated receptor γ, aryl hydrocarbon receptor, basic helix-loop-helix family, member e40 and reticulon 1 were the key target genes. S100A6, MET and CDKN1C may exhibit key roles in the progression and development of PTC, and may be used as specific therapeutic targets in the treatment of PTC. However, further experiments are required to confirm these results.
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BACKGROUND: Single-stranded non-protein coding small RNAs, 18-25 nucleotides in length, are ubiquitous throughout plants genomes and are involved in post-transcriptional gene regulation. Several types of DNA markers have been reported for the detection of genetic diversity or sequence variation in soybean, one of the most important legume crops in worldwide for seed protein and oil content. Recently, with the available of public genomic databases, there has been a shift from the labor-intensive development of PCR-based markers to sequence-based genotyping and the development of functional markers within genes, often coupled with the use of RNA information. But thus far miRNA-based markers have been only developed in rice and tobacco. Here we report the first functional molecular miRNA marker, miR1511-InDel, in soybean for a specific single copy locus used to assess genetic variation in domesticated soybean (Glycine max [L.] Merr) and its wild progenitor (Glycine soja Sieb. & Zucc.). RESULTS: We genotyped a total of 1,669 accessions of domesticated soybean (G. max) and its wild progenitor G. soja which are native throughout the China and parts of Korea, Japan and Russia. The results indicate that the miR1511 locus is distributed in cultivated soybean and has three alleles in annual wild soybean. Based on this result, we proposed that miR-InDel marker technology can be used to assess genetic variation. The inclusion of geo-reference data with miR1511-InDel marker data corroborated that accessions from the Yellow River basin (Huanghuai) exhibited high genetic diversity which provides more molecular evidence for gene diversity in annual wild soybean and domestication of soybean. CONCLUSIONS: These results provide evidence for the use of RNA marker, miRNA1511-InDel, as a soybean-specific functional maker for the study of genetic diversity, genotyping of germplasm and evolution studies. This is also the first report of functional marker developed from soybean miRNA located within the functional region of pre-miRNA1511.
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Marcadores Genéticos/genética , Glycine max/genética , Mutação INDEL/genética , MicroRNAs/genética , Polimorfismo de Nucleotídeo Único/genética , Alelos , China , Genoma de Planta/genética , Genótipo , Japão , Filogenia , República da Coreia , Federação Russa , Análise de Sequência de DNA/métodosRESUMO
Regulatory T-cells (Tregs) are generally regarded as key immunomodulators that maintain immune tolerance and counteract tissue damage in a variety of immune-mediated disorders. However, its role in myocardial ischaemia/reperfusion injury (MIRI) remains unknown. The purpose of the present study was to determine whether Tregs exert a beneficial effect on mouse MIRI. We examined the role of Tregs in murine MIRI by depletion using 'depletion of regulatory T-cell' (DEREG) mice and adoptive transfer using Forkhead box P3 (Foxp3)-GFP knockin mice and the mechanisms of cardio protection were further studied in vivo and in vitro. Tregs rapidly accumulated in murine hearts following MIRI. Selective depletion of Tregs in the DEREG mouse model resulted in aggravated MIRI. In contrast, the adoptive transfer of in vitro-activated Tregs suppressed MIRI, whereas freshly isolated Tregs had no effect. Mechanistically, activated Treg-mediated protection against MIRI was not abrogated by interleukin (IL)-10 or transforming growth factor (TGF)-ß1 inhibition but was impaired by the genetic deletion of cluster of differentiation 39 (CD39). Moreover, adoptive transfer of in vitro-activated Tregs attenuated cardiomyocyte apoptosis, activated a pro-survival pathway involving Akt and extracellular-signal-regulated kinase (ERK) and inhibited neutrophil infiltration, which was compromised by CD39 deficiency. Finally, the peripheral blood mononuclear cells of acute myocardial infarction (AMI) patients after primary percutaneous coronary intervention (PCI) revealed a decrease in CD4+CD25+CD127low Tregs and a relative increase in CD39+ cells within the Treg population. In conclusion, our data validated a protective role for Tregs in MIRI. Moreover, in vitro-activated Tregs ameliorated MIRI via a CD39-dependent mechanism, representing a putative therapeutic strategy.
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Antígenos CD/metabolismo , Apirase/metabolismo , Imunoterapia/métodos , Ativação Linfocitária/imunologia , Traumatismo por Reperfusão Miocárdica/imunologia , Linfócitos T Reguladores/imunologia , Transferência Adotiva/métodos , Análise de Variância , Animais , Fatores de Transcrição Forkhead/genética , Técnicas de Introdução de Genes , Proteínas de Fluorescência Verde/genética , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Linfócitos T Reguladores/metabolismoRESUMO
Wild relatives of crops are an important source of genetic diversity for agriculture, but their gene repertoire remains largely unexplored. We report the establishment and analysis of a pan-genome of Glycine soja, the wild relative of cultivated soybean Glycine max, by sequencing and de novo assembly of seven phylogenetically and geographically representative accessions. Intergenomic comparisons identified lineage-specific genes and genes with copy number variation or large-effect mutations, some of which show evidence of positive selection and may contribute to variation of agronomic traits such as biotic resistance, seed composition, flowering and maturity time, organ size and final biomass. Approximately 80% of the pan-genome was present in all seven accessions (core), whereas the rest was dispensable and exhibited greater variation than the core genome, perhaps reflecting a role in adaptation to diverse environments. This work will facilitate the harnessing of untapped genetic diversity from wild soybean for enhancement of elite cultivars.
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Genoma de Planta/genética , Genômica/métodos , Glycine max/genética , Glycine max/fisiologia , Polimorfismo de Nucleotídeo Único/genética , Agricultura , Sequência de Aminoácidos , Biomassa , DNA de Plantas/análise , DNA de Plantas/genética , Resistência à Doença/genética , Dados de Sequência Molecular , Filogenia , Sementes/genética , Alinhamento de Sequência , Análise de Sequência de DNA , Glycine max/classificaçãoRESUMO
BACKGROUND: Artificial selection played an important role in the origin of modern Glycine max cultivars from the wild soybean Glycine soja. To elucidate the consequences of artificial selection accompanying the domestication and modern improvement of soybean, 25 new and 30 published whole-genome re-sequencing accessions, which represent wild, domesticated landrace, and Chinese elite soybean populations were analyzed. RESULTS: A total of 5,102,244 single nucleotide polymorphisms (SNPs) and 707,969 insertion/deletions were identified. Among the SNPs detected, 25.5% were not described previously. We found that artificial selection during domestication led to more pronounced reduction in the genetic diversity of soybean than the switch from landraces to elite cultivars. Only a small proportion (2.99%) of the whole genomic regions appear to be affected by artificial selection for preferred agricultural traits. The selection regions were not distributed randomly or uniformly throughout the genome. Instead, clusters of selection hotspots in certain genomic regions were observed. Moreover, a set of candidate genes (4.38% of the total annotated genes) significantly affected by selection underlying soybean domestication and genetic improvement were identified. CONCLUSIONS: Given the uniqueness of the soybean germplasm sequenced, this study drew a clear picture of human-mediated evolution of the soybean genomes. The genomic resources and information provided by this study would also facilitate the discovery of genes/loci underlying agronomically important traits.
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Genoma de Planta , Glycine max/genética , Teorema de Bayes , Cruzamento , Evolução Molecular , Genética Populacional , Haplótipos , Humanos , Mutação INDEL , Anotação de Sequência Molecular , Filogenia , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Seleção Genética , Análise de Sequência de DNARESUMO
OBJECTIVE: To explore the clinical characteristics, therapeutic and clinical significance for RET proto-oncogene screening in a pedigree with familial medullary thyroid carcinoma. METHODS: Comprehensive medical history was obtained from 19 members in a 4-generate southern Chinese family. Systemic clinical investigations including biochemical testing, imaging examinations and germline RET screening. RESULTS: RET screening showed heterozygous missense mutations of TGC to TAC at codon 618 on exon 10 in 8 cases (p.C618Y) completely consistent with the clinical manifestations. The clinical data of 7 patients with medullary thyroid carcinoma (MTC) and 2 carriers of asymptomatic RET mutation from were analyzed. Single/bilateral multi-centric MTC with lymph node metastases was confirmed in 6 cases by histopathology and 1 case by clinical examination. There were 1 male and 6 females with an initial mean diagnostic age was 49.6 years (range: 24 - 78). All had palpable neck masses. And the mean maximum diameter of MTC was 2.6 cm (range 1.4 - 4.4). Seven patients underwent thyroidectomy except a 78-year-old female patient: right total and left subtotal thyroidectomy (n = 1), right total thyroidectomy (previous left total thyroidectomy for benign mass) (n = 1) and total thyroidectomy (n = 4) were performed. All procedures were accompanied by at least bilateral level VI lymph node dissection and/or with modified single/bilateral neck dissection. After the first operation, 6 patients still presented a high value of calcitonin: 1 patient died of metastasis 64 months postoperatively; 3 patients underwent reoperation at 6 months after initial operation, the calcitonin levels dropped to normal in 2/3 cases and stayed higher in 1 case; another two cases presented bilateral thyroid gland residua, local lymph node enlargement on imaging examination and elevated levels of calcitonin at 214 and 60 months postoperation respectively. However, 1/2 asymptomatic with elevated pre-operative calcitonin subjects underwent total thyroidectomy and histopathological examination showed bilateral C cell hyperplasia. The other carriers, without surgery, with normal neck images, close monitoring and a 10-month follow-up, still presented undetectable calcitonin. CONCLUSIONS: Based on family survey, integrated RET screening and serum levels of calcitonin facilitate an early diagnosis and normalize surgery to improve the prognosis. For asymptomatic RET mutation carriers, their levels of calcitonin shall guide the individualized regimen of prophylactic thyroidectomy or strict monitoring and follow-ups.
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Proteínas Proto-Oncogênicas c-ret/genética , Neoplasias da Glândula Tireoide/genética , Adolescente , Adulto , Idoso , Carcinoma Neuroendócrino , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Mutação Puntual , Proto-Oncogene Mas , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/terapia , Adulto JovemRESUMO
PURPOSE: To investigate the clinicopathological feature of oncocytic carcinoma of the salivary gland, and discuss diagnosis, treatment and prognosis. METHODS: From March 2001 to September 2010, the clinical data and pathological features of 12 cases of oncocytic carcinoma of the salivary gland in Zhejiang Cancer Hospital were reviewed and analyzed retrospectively. All cases are followed up. The Kaplan-Meier method was used to calculate survival curves by SPSS 16.0 software package. RESULTS: The tumors were found mainly as a painless, irregular-shaped mass or lymphadenectasis in the head and neck firstly. Pathologically, oncocytic carcinoma of salivary gland origin was an extremely rare proliferation of malignant oncocytes with adenocarcinomatous architectural phenotypes, including prominent nucleoli and infiltrative qualities. Surgery was the principal treatment, and postoperative radiotherapy was used as adjuvant treatment. Of the 12 cases with follow-up for 6 to 120 months, 7 cases survived without regional or distant metastases. 1 case survived with regional and distant metastases. 2 cases died of regional recurrences.1 case had lymphatic metastasis and died of distant metastasis finally.1 case had given up therapy and died of tumor progress ultimately. 3 cases had local recurrence within 2 years, and the recurrence rate was 25%; 3 cases died within 2 years, and the mortality rate was 25%. CONCLUSIONS: Oncocytic carcinoma of salivary gland origin is an extremely rare tumor in head and neck, with short course and rapid progress. Radical resection postoperative radiotherapy is the treatment of choice. The prognosis of oncocytic carcinoma may be associated with tumor stage, regional lymph node metastases and complete surgical excision.
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Neoplasias das Glândulas Salivares , Glândulas Salivares , Humanos , Metástase Linfática , Prognóstico , Estudos RetrospectivosRESUMO
We report five cases of primary synovial sarcomas arising in the parapharyngeal space. The patients were all men with a median age of 35 years (range 22 to 41 years). The tumors were non-encapsulated solid masses ranging from 2.0 to 6.6 cm in size. Histologically, three cases were biphasic subtype, and the other two cases were monophasic subtype. Immunohistochemically, the tumor cells were strongly positive for bcl-2 and CD99, partly positive for CK and EMA, and negative for CD117, CD34, SMA and desmin in all five cases. S-100 protein was detected in one case. The presence of an SYT-SSX1 and/or SYT-SSX2 gene fusion resulting from t(X;18) was demonstrated from paraffin blocks by reverse transcriptase polymerase chain reaction in five cases. All five patients received tumor radical excision and postoperative radiotherapy, and two patients with pulmonary metastasis received additional chemotherapy. Follow-up data revealed that two patients with tumor size <5 cm were alive without disease for 54 and 57 months, one patient with tumor size <5 cm was alive with pulmonary metastasis for 78 months, and two patients with tumor size >5 cm died of disease 26 and 37 months after the diagnosis, respectively. Primary parapharyngeal synovial sarcoma is a rare variant that occurs more frequently in males than females. Accurate diagnosis depends on morphologic and immunohistochemical examination and proper molecular analysis. The prognosis is relatively good in those patients whose tumor size is less than 5 cm.
Assuntos
Estadiamento de Neoplasias , Neoplasias Faríngeas/patologia , Sarcoma Sinovial/patologia , Adulto , Diagnóstico Diferencial , Evolução Fatal , Humanos , Masculino , Adulto JovemRESUMO
OBJECTIVE: To investigate the prognosis of adenoid cystic carcinoma (ACC) in salivary gland and its influencing factors. METHODS: Clinical and following-up data of 76 patients with ACC in salivary glands were reviewed. Major gland tumors represented 35.5% whereas minor gland tumors comprised 64.5% of the cohort, with 8 cases (10.5%) in stage I, 23 (30.3%) in stage II, 18 (23.7%) in stage III and 27(35.5%) in stage IV. Survival rates were calculated by Kaplan-Merier method. Cumulative survival curves were evaluated using the Log-rank test. Multivariate analysis was performed by Cox proportional hazard model. RESULTS: The regional recurrence rate was 28.9% and distant metastasis rate was 21.1%. The overall 5-year survival rate, tumor-free survival rate and tumor-related survival rate were 73.7%, 61.8% and 74.9% respectively. The overall 10-year survival rate, tumor-free survival rate and tumor-related survival rate were 48.2%, 39.8% and 56.2% respectively. Univariate survival analysis showed pathological type, clinical stage and perineural invasion were relevant to the prognosis of ACC and multivariate analysis showed they were the independent prognostic factors of ACC in salivary gland. CONCLUSIONS: Clinical stage, pathological type and perineural invasion were the independent prognostic factors for adenoid cystic carcinoma in salivary gland. Surgery was the first choice for the treatment of adenoid cystic carcinoma in salivary gland, and postoperative radiotherapy may prolong the tumor-free survival time of patients in stage III and IV.
Assuntos
Carcinoma Adenoide Cístico/diagnóstico , Neoplasias das Glândulas Salivares/diagnóstico , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Adulto JovemRESUMO
OBJECTIVE: To investigate the prognosis of adenoid cystic carcinoma (ACC) in minor salivary glands and its influencing factors. METHODS: Clinical data of 52 patients with ACC in minor salivary glands were reviewed. The distribution of stage was as follows: stage I (6%), stage II (21%), stage III (27%) and stage IV (46%). Counting data was analyzed by χ(2) test or Fisher's exact. Survival rates were calculated by Kaplan-Merier method. Statistical significance of differences in the cumulative survival curves was evaluated using the Log-rank test. Multivariate analysis was performed by Cox proportional hazard model. RESULTS: All patients underwent primary tumor radical resection, 39 patients (75%) received postoperative radiation. The regional recurrence rate was 37% and distant metastasis rate was 21%. The 5-, 10-year cumulative local control rate were 68% and 63% respectively. The 5-, 10-year cumulative distant control rate were 86%, 68% respectively. The 5-, 10-year tumor specific survival rates were 70% and 54% respectively. Multivariate analysis showed that T stage, lymph node metastasis and perineural invasion were relevant to the tumor specific survival of ACC in minor salivary glands. CONCLUSIONS: Recurrence and metastasis were the main cause of treatment failure of ACC in minor salivary glands. T stage, lymph node metastasis and perineural invasion were the independent prognostic factors of ACC in minor salivary glands. Radical surgery and reasonably postoperative radiotherapy were the main treatment strategy.
Assuntos
Carcinoma Adenoide Cístico/cirurgia , Neoplasias das Glândulas Salivares/cirurgia , Adulto , Idoso , Carcinoma Adenoide Cístico/patologia , Carcinoma Adenoide Cístico/radioterapia , Carcinoma Adenoide Cístico/secundário , Radioisótopos de Cobalto/uso terapêutico , Feminino , Seguimentos , Humanos , Neoplasias Pulmonares/secundário , Excisão de Linfonodo , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica , Recidiva Local de Neoplasia , Estadiamento de Neoplasias , Aceleradores de Partículas , Modelos de Riscos Proporcionais , Radioterapia Adjuvante , Neoplasias das Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/radioterapia , Glândulas Salivares Menores , Taxa de Sobrevida , Adulto JovemRESUMO
Wild and cultivated species of soybeans have coexisted for 5000 years in China. Despite this long history, there is very little information on the genetic relationship of Glycine soja and G. max. To gain insight into the major events in the history of the subgenus Soja, we examined 20 simple sequence repeat (SSR) markers of a large number of accessions (910). The results showed no significant differences between wild and semi-wild soybeans in genetic diversity but significant differences between G. soja and G. max. Ancestry and cluster analyses revealed that semi-wild soybeans should belong to the wild category and not to G. max. Our results also showed that differentiation had occurred not only among G. soja, G. gracilis, and G. max but also within G. soja and within G. gracilis. Glycine soja had 3 clear genetic categories: typical small-seeded (≤2.0 g 100-seed weight), dual-origin middle-seeded (2.0-2.5 g), and large-seeded plants (2.51-3.0 g). These last were genetically close to G. gracilis, their defining some traits having been acquired mainly by introgression from soybeans. Small-seeded G. gracilis (3.01-3.5 g) were genetically different from larger seeded ones (from 3.51 to 4.0 to over 10 g). Seed size predominated over seed coat color in evolutionary degree. Typical and large-seeded G. soja were found to have 0.7% and 12% introgressive cultivar genes, respectively. The genetic boundary of G. gracilis was at the range of 2.51-3.0 g of G. soja. In the great majority of wild accessions, traits such as white flowers, gray pubescences, no-seed bloom, and colored seed coats were likely introgressive from domesticated soybeans.