tbuckley/cabot-search huggingface dataset:
Abstract 10264: Additional Value of a Combined Genetic Score to Framingham Risk Score
Authors: Andreia Pereira, Isabel Mendonca, Ricardo Rodrigues, Susana Gomes, Micaela Neto, Ana C Sousa, Eva Henriques, Graca Guerra, Sofia Borges, Decio Pereira, Roberto Palma dos Reis
Journal: Circulation (2015)

Introduction: Previous studies consistently reported statistically significant relative risk for coronary artery disease (CAD) with multiple genes. The utility of genetic risk scores (GRS) as additive risk predictors to standard stratification like Framingham risk score (FS) remains inconclusive. Objectives: To evaluate the ability of a multiloci GRS to provide additive value to 10 year risk FS subgroups (low risk &lt;5%, intermediate risk 5-20%, high risk &gt;20%) in a south European sample. Methods: Case-control study of 2555 individuals, 1321 (51.7%) coronary patients and 1234 (48.3%) of controls without coronary disease with a mean age of 52±8.3 years divided in three groups according to FS (FS&lt;5, n=403, 53.3% male, FS 5-20, n=1657, 78% male and FS&gt;20, n= 495, 89.7% male). The multiloci GRS was determined with specific primers of 29 different genetic variants associated to atherosclerotic/CAD disease. A multiplicative model was used based on risk multiplication (odds ratio - OR) of each genotype. Multivariate analysis and respective ROC curves and area under curve (AUC) were performed for each Framingham risk subgroup. The analysis was repeated adding GRS and pairwise comparison of the two ROC Curve was done by the DeLong test. Results: By multivariate analysis GRS was an independent predictor for CAD (OR=2.05; 1.66-2.54, p&lt;0.0001). Diabetes, arterial hypertension, dyslipidemia and smoking (OR= 3.07 (2.47-3.80); OR=2.07 (1.73-2.49); OR=3.1 (2.37-4.07); OR=3.11 (2.58-3.74); all p&lt;0.0001) were also independent CAD predictors. GRS added significant predictive value to Framingham score across the intermediate (0.70 to 0.73 (p&lt;0.0001) and high risk group from 0.68 to 0.72 (p=0.005). Conclusion: GRS proved to add significant incremental value only in intermediate and high risk subgroups. In these subgroups, the inclusion of genotyping may be considered to better clarify cardiovascular risk.
Micro <scp>RNA</scp> ‐184 and its long noncoding <scp>RNA</scp> sponge urothelial carcinoma associated 1 are induced in wounded keratinocytes in a store‐operated calcium entry‐dependent manner
Authors: A. Richardson, D.J. Owens, K. Ross
Journal: British Journal of Dermatology (2018)

There remains a significant need for therapeutic interventions for wound healing as the clinical and socioeconomic challenges presented by the ageing population and associated rise in non-healing wounds persist, exerting enormous pressure on health services 1 .
4D Biofabrication: Materials, Methods, and Applications
Authors: Leonid Ionov
Journal: Advanced Healthcare Materials (2018)

Abstract The mission of regenerative medicine is the development of methods to regrow, repair, or replace damaged or diseased cells, organs, or tissues. 3D bioprinting techniques are one of the most promising approaches for engineering the design of artificial tissues. Current 3D bioprinting technologies possess, however, several intrinsic limitations. 4D biofabrication, a recently developed technology with the embedded ability of shape transformation upon response to intrinsic and/or external stimuli, may solve challenges of 3D bioprinting as well as more accurately mimic the dynamics of the native tissues. This article covers recent advances in 4D biofabrication. It gives a detailed picture of used materials and technologies, provides critical comparisons of methods, discusses possibilities and limitations of different 4D biofabrication technologies, and gives examples of applications.
Punción guiada por ecoendoscopia mediante técnicas de capilaridad, aspiración seca y aspiración húmeda. Estudio prospectivo, ciego y aleatorizado
Authors: A Repiso, S Aso, R Sánchez, A Castillo, I Alía, R Gómez
Journal: Endoscopy (2017)

El objetivo del estudio fue comparar la calidad de las muestras obtenidas mediante USE-PAAF utilizando distintas técnicas de aspiración.
NOTCH1 Mutations Are Associated With The 14q Deletion In Chronic Lymphocytic Leukemia (CLL) and Small Lymphocytic Lymphoma (SLL)
Authors: Florence Nguyen-Khac, Adrien Cosson, Elise Chapiro, Nabila Belhouachi, hong-Anh Cung, Boris Keren, Frederik Damm, Caroline Algrin, Christine Lefebvre, Sandra fert-Ferrer, Isabelle Luquet, Nathalie Gachard, Francine Mugneret, Christine Terré, Marie-Agnes Collonge-Rame, Lucienne Michaux, Isabelle Radford-Weiss, Pascaline Talmant, Lauren Veronese, Nathalie Nadal, Stephanie Struski, Carole Barin, Catherine Helias, Marina Lafage, Éric Lippert, Nathalie Auger, Virginie Eclache, Catherine Settegrana, Karim Maloum, CLaude Lesty, Frederic Davi, Hélène Merle-Beral
Journal: Blood (2013)
Arabidopsis thaliana and Pseudomonas Pathogens Exhibit Stable Associations over Evolutionary Timescales
Authors: Talia L. Karasov, Juliana Almario, Claudia Friedemann, Wei Ding, Michael Giolai, Darren Heavens, Sonja Kersten, Derek S. Lundberg, Manuela Neumann, Julian Regalado, Richard A. Neher, Eric Kemen, Detlef Weigel
Journal: Cell Host & Microbe (2018)

Crop disease outbreaks are often associated with clonal expansions of single pathogenic lineages. To determine whether similar boom-and-bust scenarios hold for wild pathosystems, we carried out a multi-year, multi-site survey of Pseudomonas in its natural host Arabidopsis thaliana. The most common Pseudomonas lineage corresponded to a ubiquitous pathogenic clade. Sequencing of 1,524 genomes revealed this lineage to have diversified approximately 300,000 years ago, containing dozens of genetically identifiable pathogenic sublineages. There is differentiation at the level of both gene content and disease phenotype, although the differentiation may not provide fitness advantages to specific sublineages. The coexistence of sublineages indicates that in contrast to crop systems, no single strain has been able to overtake the studied A. thaliana populations in the recent past. Our results suggest that selective pressures acting on a plant pathogen in wild hosts are likely to be much more complex than those in agricultural systems.
Sharing more than friendship – transmission of NDM-5 ST167 and CTX-M-9 ST69 Escherichia coli between dogs and humans in a family, Finland, 2015
Authors: Thomas Grönthal, Monica Österblad, Marjut Eklund, Jari Jalava, Suvi Nykäsenoja, Katariina Pekkanen, Merja Rantala
Journal: Eurosurveillance (2018)

Introduction Carbapenemase-producing Enterobacteriaceae (CPE) have rarely been reported in dogs, and never in animals in Finland. However, in April 2015, two meropenem-resistant Escherichia coli were identified from two dogs in one family. Both dogs suffered from chronic otitis externa . Methods: Epidemiological and molecular investigations (pulsed-field gel electrophoresis (PFGE), multilocus sequence typing) were conducted to investigate the source of infection and transmission routes. Results: In both dogs and one family member New Delhi metallo-beta-lactamase (NDM-5)-producing multidrug-resistant ST167 E. coli was found. Whole genome sequencing confirmed that the isolates were identical or only had one or two allelic differences. Additionally, the dogs and humans of the family carried an identical extended-spectrum beta-lactamase (ESBL) CTX-M-group 9 E. coli ST69 strain, indicating interspecies transmission. While the original source remains unclear, human-to-canine transmission is possible. No carbapenems had been administered to the dogs, but exposure to numerous other antimicrobials likely sustained the bacteria and supported its propagation in the canine host. Conclusion: To our knowledge, canine clinical NDM-5 E. coli in Europe, and confirmed CPE transmission between dogs and humans have not been previously reported. The screening of veterinary Enterobacteriaceae isolates for carbapenem resistance is highly recommended.
Multifunctional gold nanostar-based nanocomposite: Synthesis and application for noninvasive MR-SERS imaging-guided photothermal ablation
Authors: Yongping Gao, Yongsheng Li, Jianzhuang Chen, Shaojia Zhu, Xiaohang Liu, Liangping Zhou, Ping Shi, Dechao Niu, Jinlou Gu, Jianlin Shi
Journal: Biomaterials (2015)
ESOPHAGEAL “OUTLET PATCHY VESICLES”: ENDOSCOPIC, MAGNIFICATION ENDOSCOPY, HISTOLOGIC AND ELECTRONMICROSCOPIC DESCRIPTION OF NEW LESIONS AT THE GASTROESOOPHAGEAL JUNCTION
Authors: K Mönkemüller, A Martínez-Alcalá García, C Delgado-Linares, P Malfertheiner, LC Fry, H Neumann
Journal: Endoscopy (2018)

We have often observed the presence of small yellow vesicles or tiny submucosal cysts above the Z-line in a significant number of patients. These lesions have not been described in the literature. The aim of this study was to evaluate the incidence of these lesions and characterize them endoscopically and histolgically.
Striking White Hair
Authors: Monica Rosales Santillan
Journal: JAMA Dermatology (2018)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA Dermatology HomeNew OnlineCurrent IssueFor Authors Podcast Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA Dermatology journal
Large-Scale Single-Cell RNA-Seq Reveals Molecular Signatures of Heterogeneous Populations of Human Induced Pluripotent Stem Cell-Derived Endothelial Cells
Authors: David T. Paik, Lei Tian, Jaecheol Lee, Nazish Sayed, Ian Y. Chen, Siyeon Rhee, June-Wha Rhee, Youngkyun Kim, Robert C. Wirka, Jan W. Buikema, Sean M. Wu, Kristy Red-Horse, Thomas Quertermous, Joseph C. Wu
Journal: Circulation Research (2018)

Human-induced pluripotent stem cell-derived endothelial cells (iPSC-ECs) have risen as a useful tool in cardiovascular research, offering a wide gamut of translational and clinical applications. However, inefficiency of the currently available iPSC-EC differentiation protocol and underlying heterogeneity of derived iPSC-ECs remain as major limitations of iPSC-EC technology.Here, we performed droplet-based single-cell RNA sequencing (scRNA-seq) of the human iPSCs after iPSC-EC differentiation. Droplet-based scRNA-seq enables analysis of thousands of cells in parallel, allowing comprehensive analysis of transcriptional heterogeneity.Bona fide iPSC-EC cluster was identified by scRNA-seq, which expressed high levels of endothelial-specific genes. iPSC-ECs, sorted by CD144 antibody-conjugated magnetic sorting, exhibited standard endothelial morphology and function including tube formation, response to inflammatory signals, and production of NO. Nonendothelial cell populations resulting from the differentiation protocol were identified, which included immature cardiomyocytes, hepatic-like cells, and vascular smooth muscle cells. Furthermore, scRNA-seq analysis of purified iPSC-ECs revealed transcriptional heterogeneity with 4 major subpopulations, marked by robust enrichment of CLDN5, APLNR, GJA5, and ESM1 genes, respectively.Massively parallel, droplet-based scRNA-seq allowed meticulous analysis of thousands of human iPSCs subjected to iPSC-EC differentiation. Results showed inefficiency of the differentiation technique, which can be improved with further studies based on identification of molecular signatures that inhibit expansion of nonendothelial cell types. Subtypes of bona fide human iPSC-ECs were also identified, allowing us to sort for iPSC-ECs with specific biological function and identity.
Lack of effect of clonidine on stuttering in children
Authors: Althaus M, Vink Hj, Minderaa Rb, Goorhuis-Brouwer Sm, Oosterhoff
Journal: American Journal of Psychiatry (1995)

The authors studied the effects of the alpha 2-receptor agonist clonidine on stuttering in children.Using a double-blind crossover study, they gave placebo or 4 micrograms/kg body weight per day to 25 stuttering children who were 6-13 years old. Stuttering was measured by counting the occurrences of four elementary speech difficulties and by asking parents and teachers to give an overall impression of the amount of stuttering, as well as their impression of how troublesome the stuttering was to the children.Clonidine did not improve stuttering.Clonidine cannot be recommended as a useful drug for treating children who stutter.
Acciones realizadas en el servicio de endoscopia del consorci sanitari del garraf tras obtener resultados positivos
Authors: C Calvo Larraz, E Moreno Rubio, T Albareda Estape, E Cerdan, M Pumareta, D Blancas Altabella
Journal: Endoscopy (2017)

El control microbiológico es un indicador de calidad en nuestro servicio de endoscopia. Durante el segundo semestre del 2015 en uno de los controles rutinarios sistematizados aparecen cultivos positivos. Como contramedida se aplica el protocolo de limpieza y desinfección establecido y aún así persisten. En octubre de 2015 aparecen micobacterias en las lavadoras.
MicroRNA: Biological and Computational Perspective
Authors: Yong Kong, Jin-Hua Han
Journal: Genomics Proteomics & Bioinformatics (2005)

Abstract MicroRNAs (miRNAs) are endogenously expressed non-coding RNAs of 20–24 nucleotides, which post-transcriptionally regulate gene expression in plants and animals. Recently it has been recognized that miRNAs comprise one of the abundant gene families in multicellular species, and their regulatory functions in various biological processes are widely spread. There has been a surge in the research activities in this field in the past few years. From the very beginning, computational methods have been utilized as indispensable tools, and many discoveries have been obtained through combination of experimental and computational approaches. In this review, both biological and computational aspects of miRNA will be discussed. A brief history of the discovery of miRNA and discussion of microarray applications in miRNA research are also included.
RETRACTED ARTICLE: LncRNA PVT1 triggers Cyto-protective autophagy and promotes pancreatic ductal adenocarcinoma development via the miR-20a-5p/ULK1 Axis
Authors: Fengting Huang, Wenying Chen, Juanfei Peng, Yuanhua Li, Yanyan Zhuang, Zhe Zhu, Chunkui Shao, Wanling Yang, Herui Yao, Shineng Zhang
Journal: Molecular Cancer (2018)

Abstract Background Defective autophagy is thought to contribute to the pathogenesis of many diseases, including cancer. Human plasmacytoma variant translocation 1 (PVT1) is an oncogenic long non-coding RNA that has been identified as a prognostic biomarker in pancreatic ductal adenocarcinoma, but how PVT1 operates in the regulation of autophagy in pancreatic ductal adenocarcinoma (PDA) is unclear. Methods PVT1 expression level was detected by quantitative real-time polymerase chain reaction (qRT-PCR) and hybridization in situ (ISH). Western blot or qRT-PCR was performed to assess the ULK1 protein or mRNA level. Autophagy was explored via autophagic flux detection under a confocal microscope and autophagic vacuoles investigation under a transmission electron microscopy (TEM). The biological role of PVT1 in autophagy and PDA development was determined by gain-of-function and loss-of-function assays. Results We found that PVT1 levels paralleled those of ULK1 protein in PDA cancer tissues. PVT1 promoted cyto-protective autophagy and cell growth by targeting ULK1 both in vitro and in vivo. Moreover, high PVT1 expression was associated with poor prognosis. Furthermore, we found that PVT1 acted as sponge to regulate miR-20a-5p and thus affected ULK1 expression and the development of pancreatic ductal adenocarcinoma. Conclusions The present study demonstrates that the “PVT1/miR-20a-5p/ULK1/autophagy” pathway modulates the development of pancreatic ductal adenocarcinoma and may be a novel target for developing therapeutic strategies for pancreatic ductal adenocarcinoma.
Krebs von den Lungen-6 associated with chest high-resolution CT score in evaluation severity of patients with interstitial lung disease
Authors: H. Qin, X.P. Xu, J. Zou, X.J. Zhao, H.W. Wu, Q.F. Zha, S. Chen, Y. Kang, H.D. Jiang
Journal: Pulmonology (2018)

The purpose of this prospective, single-center study was to measure the value of Krebs von den Lungen-6 (KL-6), a kind of transmembrane mucoprotein, in diagnosing interstitial lung disease (ILD) and in assessing the severity of ILD.We enrolled 184 patients and 30 healthy controls. Ninety-eight patients were diagnosed with ILD, 47 with pneumonia, 19 with non-small cell lung cancer without ILD (NSCLC/non-ILD) and 20 with other lung diseases. Serum KL-6 levels, CT scores of high-resolution computerised tomography (HRCT) and pulmonary function in ILD patients were assessed.The mean value of serum KL-6 in patients with ILD, pneumonia, NSCLC/non-ILD, other lung diseases and healthy controls were 1000.67±882.73U/ml, 234.11±91.02U/ml, 269.95±149.23U/ml, 234.85±83.51U/ml and 189.03±55.50U/ml, respectively. Serum KL-6 levels of patients with ILD were significantly higher than that of other groups (P<0.000). The level of serum KL-6 in patients with pneumonia, NSCLC/non-ILD and other lung diseases was also statistically higher than healthy controls (P<0.05). When the cut-off value was 312U/ml, the sensitivity and specificity of KL-6 for the diagnosis of ILD was 84.7% and 85.3% respectively (AUC: 0.936, 95% CI: 0.906-0.965). The serum KL-6 levels in patients with ILD were significantly positively correlated with the CT scores (r=0.539, P=0.000) and negatively correlated with DLCO (r=-0.513, P=0.000).Serum KL-6 might be useful in the diagnosis of ILD, especially in the hard-to-diagnose cases, with high sensitivity and specificity. Furthermore, KL-6 might be a valuable marker for evaluation of ILD severity.
Resección endoscópica de neoplasias infiltrantes superficiales colorrectales: ¿Son utiles los factores patológicos de mal pronóstico para decidir el tratamiento quirúrgico complementario?
Authors: A Elosua, S Oquiñena, M Rullan, D Oyón, S López, J Carrascosa, A Guerra, A Pueyo, JJ Vila
Journal: Endoscopy (2017)

Las neoplasias infiltrantes superficiales colorrectales (NISCR) presentan invasión submucosa (pT1) sin afectación de la muscular propia. Existe la posibilidad de metástasis por la presencia de vasos sanguíneos y linfáticos submucosos. La indicación de cirugía oncológica se valora en función de los factores patológicos de mal pronóstico (FMP).
PH-metría endoscópica telemétrica para el estudio de la erge. Experiencia inicial
Authors: E Espinet Coll, C Hernández Ballesteros, C Vila Lolo, E Vidal Gispert, JA Gómez Valero, D Maluenda Colomer, S Bacchiddu, E Hernández Ramos, A Juan-Creix Comamala
Journal: Endoscopy (2017)

La pH-metría esofágica es el método estándar para el estudio del reflujo gastro-esofágico (RGE). Cierta incomodidad física y social por la sonda pueden limitar su aplicabilidad. Además, el registro limitado a 24h puede infraestimar el reflujo real.
Tunable Enzymatically Cross‐Linked Silk Fibroin Tubular Conduits for Guided Tissue Regeneration
Authors: Cristiana R. Carvalho, João B. Costa, Alain da Silva Morais, Rita López‐Cebral, Joana Silva‐Correia, Rui L. Reis, J. Miguel Oliveira
Journal: Advanced Healthcare Materials (2018)

Abstract Hollow tubular conduits (TCs) with tunable architecture and biological properties are in great need for modulating cell functions and drug delivery in guided tissue regeneration. Here, a new methodology to produce enzymatically cross‐linked silk fibroin TCs is described, which takes advantage of the tyrosine groups present in silk structure that are known to allow the formation of a covalently cross‐linked hydrogel. Three different processing methods are used as a final step to modulate the properties of the silk‐based TCs. This approach allows to virtually adjust any characteristic of the final TCs. The final microstructure ranges from a nonporous to a highly porous network, allowing the TCs to be selectively porous to 4 kDa molecules, but not to human skin fibroblasts. Mechanical properties are dependent both on the processing method and thickness of the TCs. Bioactivity is observed after 30 days of immersion in simulated body fluid only for the TCs submitted to a drying processing method (50 °C). The in vivo study performed in mice demonstrates the good biocompatibility of the TCs. The enzymatically cross‐linked silk fibroin TCs are versatile and have adjustable characteristics that can be exploited in a variety of biomedical applications, particularly in guidance of peripheral nerve regeneration.
Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma
Authors: Maria I. Carlo, Semanti Mukherjee, Diana Mandelker, Joseph Vijai, Yelena Kemel, Liying Zhang, Andrea Knezevic, Sujata Patil, Ozge Ceyhan-Birsoy, Kuo-Cheng Huang, Almedina Redzematovic, Devyn T. Coskey, Carolyn Stewart, Nisha Pradhan, Angela G. Arnold, A. Ari Hakimi, Ying-Bei Chen, Jonathan A. Coleman, David M. Hyman, Marc Ladanyi, Karen A. Cadoo, Michael F. Walsh, Zsofia K. Stadler, Chung-Han Lee, Darren R. Feldman, Martin H. Voss, Mark Robson, Robert J. Motzer, Kenneth Offit
Journal: JAMA Oncology (2018)

Identification of patients with hereditary renal cell carcinoma (RCC) is important for cancer screening and, in patients with advanced disease, for guiding treatment. The prevalence of cancer-related germline mutations in patients with advanced RCC and the phenotypes associated with some rare mutations are unknown.To examine the prevalence of germline mutations in both known RCC predisposition genes and other cancer-associated genes and to identify clinical and pathologic factors associated with germline mutations.In this cohort study conducted from October 1, 2015, to July 31, 2017, 254 of 267 patients with advanced (American Joint Committee on Cancer stage III or IV) RCC who were seen in medical oncology or urology clinics agreed to germline sequencing and disclosure of results under an institutional protocol of matched tumor-germline DNA sequencing.Mutation prevalence and spectrum in patients with advanced RCC were determined. Clinical characteristics were assessed by mutation status.Of the 254 patients (median age [range], 56 [13-79] years; 179 [70.5%] male; 211 [83.1%] non-Hispanic white), germline mutations were identified in 41 (16.1%); 14 (5.5%) had mutations in syndromic RCC-associated genes (7 in FH, 3 in BAP1, and 1 each in VHL, MET, SDHA, and SDHB). The most frequent mutations were CHEK2 (n = 9) and FH (n = 7). Of genes not previously associated with RCC risk, CHEK2 was overrepresented in patients compared with the general population, with an odds ratio of RCC of 3.0 (95% CI, 1.3-5.8; P = .003). Patients with non-clear cell RCC were significantly more likely to have an RCC-associated gene mutation (9 [11.7%] of 74 vs 3 [1.7%] of 177; P = .001), and 8 (10.0%) had a mutation in a gene that could guide therapy. Of patients with mutations in RCC-associated genes, 5 (35.7%) failed to meet current clinical guidelines for genetic testing.Of patients with non-clear cell RCC, more than 20% had a germline mutation, of which half had the potential to direct systemic therapy. Current referral criteria for genetic testing did not identify a substantial portion of patients with mutations, supporting the role of a more inclusive sequencing approach.