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1.
Zhonghua Yi Xue Za Zhi ; 100(6): 460-464, 2020 Feb 18.
Artículo en Chino | MEDLINE | ID: mdl-32146771

RESUMEN

Objective: In this study, we used the Weighted gene co-expression network analysis (WGCNA) analysis to find the gene module that are specifically expressed in Medulloblastoma and screened the marker genes that may diagnose and treat Medulloblastoma. Methods: WGCNA was used to identify the gene modules that are specifically associated with suvival in Medulloblastoma. Cytoscape software was used to construct Co-expression Network. Survival analysis of hub genes using Kaplan Meier (KM) analysis method. Results: Based on the predicted co-expression network, we found that green module significantly associated with survival traits. Green module genes were analyzed and we identified the hub gene UBE2G1 by cytoscape software which have the most correlation with survival trait. Conclusions: Our results indicate that UBE2G1 may be served as a candidate diagnostic biomarker and a promising therapeutic target for Medulloblastoma.


Asunto(s)
Neoplasias Cerebelosas , Meduloblastoma , Redes Reguladoras de Genes , Humanos , Pronóstico , Programas Informáticos
2.
Zhonghua Zhong Liu Za Zhi ; 42(2): 115-121, 2020 Feb 23.
Artículo en Chino | MEDLINE | ID: mdl-32135645

RESUMEN

Objective: To construct the competitive endogenous RNA (ceRNA) network related to gastric cancer and explore the molecular mechanism. Methods: The expression profiles of lncRNA, miRNA and mRNA in gastric cancer and paracancer tissues were analyzed by biochip technology, edgeR package in R software was used to filtrate differential expression genes (multiple change of >1.5 times, P<0.05) and volcano map was drawn. Based on the online miRNA-lncRNA prediction tool lncBase database and the miRNA Target gene prediction database (miRTarBase, target-scan, miRDB, starBase), the relationship between miRNA, lncRNA and mRNA was predicted. Cytoscape software was used to construct lncRNA-miRNA-mRNA ceRNA network and key genes (hub genes) were identified based on cytohubba calculation of degree score of each node. Then Hub genes related to the prognosis of gastric cancer were verified in the TCGA database. The GO and KEGG enrichment analysis of differentially expressed mRNA was performed using the online biological information annotation database DAVID, P<0.05 and false discovery rate (FDR)<0.05 were used as cut-off criteria. R software was used to download the RNA sequencing data and mirna-seq data of gastric cancer and adjacent tissues in TCGA database, edgeR package was used to screen out differentially expressed mRNA, miRNA and lncRNA, and some differentially expressed genes in our data were verified. In OncoLnc database, STAD project of TCGA data was selected and hub gene was input. Patients were divided into two groups based on the median value for hub genes and Kaplan-meier analysis was performed. Results: The differentially expressed 766 mRNA, 110 lncRNA and 10 miRNA were screened out, among them 90 mRNA, 4 lncRNA and 6 miRNA were used to construct the ceRNA network, and 2 of the 20 hub genes were related to the prognosis of patients. MLK7-AS1, SPP1, SULF1, hsa-miR-1307-3p were upregulated in gastric cancer tissues from our biochip, while MT2A, MT1X were downregulated, which were consistent with the results of TCGA gastric cancer database. The differentially expressed mRNAs were significantly enriched in the biological process (BP) and the mineral absorption pathway. CHST1 was negatively correlated while miR-183-5p was positively corelated with the survival of patients. Conclusion: The establishment of ceRNA network for gastric cancer is conducive to further understanding of the molecular biological mechanism. CHST1 and miR-183-5p can be used as prognostic factors of gastric cancer.


Asunto(s)
Redes Reguladoras de Genes/genética , Neoplasias Gástricas/genética , Humanos , MicroARNs/genética , Pronóstico , ARN Largo no Codificante/genética , ARN Mensajero/genética , Programas Informáticos
3.
Rev Bras Epidemiol ; 23: e200013, 2020.
Artículo en Portugués, Inglés | MEDLINE | ID: mdl-32159624

RESUMEN

The 24-hour recall (R24h) has been the method for dietary assessment in surveys. Technological advances have allowed the development of a program for the collection of R24h data. International Agency for Research on Cancer-World Health Organization (IARC-WHO) developed a standardized interview and computer-based 24-hour dietary recall program called GloboDiet, aimed at using it in research and nutrition surveillance. Brazil was included in a project for the global expansion of this methodology for developing and adapting a version for national use. The adaptation followed the procedures established by the IARC-WHO that considered the translation and adaptation of approximately 70 databases. For the development of the food list, national databases of food consumption from national surveys were consulted obtaining a final list of 2113 foods and recipes. GloboDiet program guides an interview in five steps: general information of the participant; quick list of foods and recipes; details of food / recipes and quantities consumed using mainly a picture book; control of the amount of food and nutrients; and information on dietary supplements. The Brazilian version of the GloboDiet program will provide a more accurate assessment of food intake based on a standardized method for nutrition surveillance and investigation of the relationship between diet and health outcomes, as well as comparisons of dietary intakes within and between countries.


Asunto(s)
Registros de Dieta , Dieta , Conducta Alimentaria , Programas Informáticos , Encuestas y Cuestionarios , Encuestas sobre Dietas , Estudios Epidemiológicos , Humanos , Evaluación Nutricional
4.
Med Sci Monit ; 26: e920754, 2020 Mar 06.
Artículo en Inglés | MEDLINE | ID: mdl-32141441

RESUMEN

BACKGROUND Rupture of intracranial aneurysms (IA) is associated with high rates of mortality around the world. Use of intestinal probiotics can regulate the pathophysiology of aneurysms, but the details of the mechanism involved have been unclear. MATERIAL AND METHODS The GEO2R analysis website was used to detect the DEGs between IAs, AAAs, samples after supplementation with probiotics, and normal samples. The online tool DAVID provides functional classification and annotation analyses of associated genes, including GO and KEGG pathway. PPI of these DEGs was analyzed based on the STRING database, followed by analysis using Cytoscape software. RESULTS We found 170 intersecting DEGs (contained in GSE75240 and more than 2 of the 4 aneurysms datasets), 5 intersecting DEGs (contained in all datasets) and 1 intersecting DEG (contained in GSE75240 and all IAs datasets). GO analysis results suggested that the DEGs primarily participate in signal transduction, cell adhesion, immune response, response to drug, extracellular matrix organization, cell-cell signaling, and inflammatory response in the BP terms, and the KEGG pathways are mainly enriched in focal adhesion, cytokine-cytokine receptor interaction, ECM-receptor interaction, amoebiasis, chemokine signaling pathway, proteoglycans, and PI3K-Akt signaling pathway in cancer pathways. Through PPI network analysis, we confirmed 2 candidates for further study: CAV1 and MYH11. These downregulated DEGs are associated with the formation of aneurysms, and the change of these DEGs is the opposite in probiotics-treated animals. CONCLUSIONS Our study suggests that MYH11 and CAV1 are potential target genes for prevention of aneurysms. Further experiments are needed to verify these findings.


Asunto(s)
Biología Computacional , Aneurisma Intracraneal/genética , Probióticos , Caveolina 1/genética , Regulación hacia Abajo , Regulación de la Expresión Génica , Ontología de Genes , Humanos , Cadenas Pesadas de Miosina/genética , Programas Informáticos
5.
Biomed Khim ; 66(1): 30-41, 2020 Jan.
Artículo en Ruso | MEDLINE | ID: mdl-32116224

RESUMEN

New drug discovery is based on the analysis of public information about the mechanisms of the disease, molecular targets, and ligands, which interaction with the target could lead to the normalization of the pathological process. The available data on diseases, drugs, pharmacological effects, molecular targets, and drug-like substances, taking into account the combinatorics of the associative relations between them, correspond to the Big Data. To analyze such data, the application of computer-aided drug design methods is necessary. An overview of the studies in this area performed by the Laboratory for Structure-Function Based Drug Design of IBMC is presented. We have developed the approaches to identifying promising pharmacological targets, predicting several thousand types of biological activity based on the structural formula of the compound, analyzing protein-ligand interactions based on assessing local similarity of amino acid sequences, identifying likely molecular mechanisms of side effects of drugs, calculating the integral toxicity of drugs taking into account their metabolism, have been developed in the human body, predicting sustainable and sensitive options strains and evaluating the effectiveness of combinations of antiretroviral drugs in patients, taking into account the molecular genetic characteristics of the clinical isolates of HIV-1. Our computer programs are implemented as the web-services freely available on the Internet, which are used by thousands of researchers from many countries of the world to select the most promising substances for the synthesis and determine the priority areas for experimental testing of their biological activity.


Asunto(s)
Diseño Asistido por Computador , Diseño de Drogas , Preparaciones Farmacéuticas/química , Descubrimiento de Drogas , Humanos , Ligandos , Programas Informáticos
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(3): 345-351, 2020 Mar 10.
Artículo en Chino | MEDLINE | ID: mdl-32128756

RESUMEN

Bioinformatic analysis and variant classification are the key components of high-throughput sequencing-based genetic diagnostic approach. This consensus is part of the effort to develop a standardized process for next generation sequencing (NGS)-based test for germline mutations underlying Mendelian disorders in China. The flow-chart, common software, key parameters of bioinformatics pipeline for data processing, annotation, storage and variant classification are reviewed, which is aimed to help improving and maintaining a high-quality process and obtaining consistent outcomes for NGS-based molecular diagnosis.


Asunto(s)
Enfermedades Genéticas Congénitas/diagnóstico , Pruebas Genéticas/normas , Secuenciación de Nucleótidos de Alto Rendimiento/normas , China , Biología Computacional , Consenso , Análisis de Datos , Humanos , Programas Informáticos
7.
Braz Oral Res ; 34: e017, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32130364

RESUMEN

Prevention and health promotion are considered important strategies to control oral diseases. Dental caries is preventable disease and remains the most common chronic disease that affects mainly low income children and still considered the main cause of tooth loss in adulthood in Brazil. The aim of this study is to present a System Dynamics model (SDM) specifically developed with the Stella Architect software to estimate the cost and clinical hours required to control the evolution of dental caries in preschool children in Maringá, Brazil. Two main strategies to control caries were considered in the model: the application of fluoride varnish on teeth presenting white spots, and the use of Atraumatic Restorative Treatment (ART) in cavitated carious lesions without pulp involvement. The parameters used in the model were: number of people covered by a local oral health team = 4,000; number of children up to 5 years = 7% of the population; children's decayed, missing, filled teeth (dmft) index = 2.4; time/cost of 4 applications of fluoride varnish = 5 minutes/US$ 0.716; and time/cost of each ART restoration = 15 minutes/US$ 1.475. The SDM generated an estimated total cost of US$698.00, and a total of 112 clinical hours to treat the population in question. The use of the SDM presented here has the potential to assist decision making by measuring the material and human resources required to prevent and control dental caries at an early age.


Asunto(s)
Tratamiento Restaurativo Atraumático Dental/economía , Caries Dental/economía , Caries Dental/terapia , Análisis de Sistemas , Brasil , Preescolar , Índice CPO , Tratamiento Restaurativo Atraumático Dental/métodos , Materiales Dentales/economía , Femenino , Fluoruros Tópicos/economía , Humanos , Masculino , Programas Informáticos/normas , Factores de Tiempo
8.
Quintessence Int ; 51(3): 238-245, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32020134

RESUMEN

OBJECTIVES: Replacing conventional round intraoral collimators with rectangular collimators provides a considerable radiation dose reduction in adult patients. This study aimed to determine the radiation dose reduction via mathematical phantom when converting from round to appropriately sized rectangular collimation in children ages 5 to 15 years. METHOD AND MATERIALS: Virtual full mouth series (FMX) were simulated using a commercially available radiation dose software. This software is designed to calculate patient radiation doses from x-ray exams for various age pediatric and adult mathematical phantoms. For this pediatric study an 18-image FMX was simulated for the 15-year-old and a 12-image FMX was simulated for the 5-year-old and 10-year-old pediatric phantoms. An area of 12.0 to 16.8 cm2 represented rectangular collimation, while a 20.4 to 31.7 cm2 area represented typical round collimation. RESULTS: Effective doses decreased in all ages by nearly 60% when switching from 31.7 cm2 round to 12.0 cm2 rectangular collimation. Reduction in absorbed doses to the thyroid (70% to 73%), salivary glands (62% to 78%), and active bone marrow (60% to 62%) were also noted when switching from the largest to smallest collimation. CONCLUSION: This study suggests the use of rectangular collimators provides clinically relevant dose reduction for pediatric patients, even when altering from smaller round to rectangular collimation with equivalent beam quality, and this information can be utilized in all dental practices.


Asunto(s)
Programas Informáticos , Glándula Tiroides , Adolescente , Adulto , Niño , Preescolar , Humanos , Fantasmas de Imagen , Dosis de Radiación
9.
Epidemiol Psychiatr Sci ; 29: e100, 2020 Jan 31.
Artículo en Inglés | MEDLINE | ID: mdl-32000876

RESUMEN

There are tens of thousands of mental health-related apps available today - representing extreme duplication in this digital age. Instead of a plethora of apps, there is a need for a few that meet the needs of many. Focusing on transparency and free sharing of software, we argue that a collaborative approach towards apps can advance care through creating customisable and future proofed digital tools that allow all stakeholders to engage in their design and use.


Asunto(s)
Servicios de Salud Mental/organización & administración , Salud Mental , Aplicaciones Móviles , Telemedicina/métodos , Tecnología Biomédica , Humanos , Trastornos Mentales/terapia , Programas Informáticos
10.
Ultrasonics ; 103: 106086, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32070827

RESUMEN

Ultrasonic bioreactors have been used for in vitro experimentation to study cellular responses to low-intensity pulsed ultrasound. The presence of an air interface in these bioreactors contributes to variability in the acoustic pressure field, reducing experimental reproducibility. A multiphysics finite element model was developed to simulate the acoustic field in an in-dish ultrasonic bioreactor, where the transducer is immersed in culture medium above the dish surface, and the effects of replacing air below the dish in the bioreactor with a water layer bounded by an acoustic absorbent layer were evaluated. Frequency domain simulations showed that the spatially-averaged pressure at the dish surface alternated between a minimum and maximum level as the distance between the dish and transducer increased. The ratio of the maximum to minimum level was 6.5-fold when the air interface was present, and this ratio dropped to 1.8-fold with replacement of the air interface. However, radial pressure variability was present with or without the air interface in the bioreactor model. Time-dependent simulations showed that the increase in acoustic pressure to a maximum level after US signal activation and the pressure drop after signal cessation were faster when the water-coupled non-reflective layer was used to replace the air layer below the dish, generating a pressure pattern that more closely followed the applied pulsed ultrasound signal due to reduced wave reflection and interference. Overall, this work showed that having water rather than air in contact with the lower dish surface when paired with an acoustic absorbent layer resulted in a less variable pressure field, providing an improved bioreactor design for in vitro experiments.


Asunto(s)
Acústica , Reactores Biológicos , Análisis de Elementos Finitos , Fenómenos Biofísicos , Medios de Cultivo , Diseño de Equipo , Presión , Programas Informáticos , Propiedades de Superficie , Transductores , Ultrasonido , Agua
11.
J Evid Based Med ; 13(1): 57-69, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32086994

RESUMEN

Data mining technology can search for potentially valuable knowledge from a large amount of data, mainly divided into data preparation and data mining, and expression and analysis of results. It is a mature information processing technology and applies database technology. Database technology is a software science that researches manages, and applies databases. The data in the database are processed and analyzed by studying the underlying theory and implementation methods of the structure, storage, design, management, and application of the database. We have introduced several databases and data mining techniques to help a wide range of clinical researchers better understand and apply database technology.


Asunto(s)
Macrodatos , Minería de Datos , Bases de Datos Factuales , Programas Informáticos
12.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(1): 124-128, 2020 Feb 18.
Artículo en Chino | MEDLINE | ID: mdl-32071475

RESUMEN

OBJECTIVE: To analyze the relationship between the width of the maxillary anterior teeth and the anterior arch perimeter, to analyze the change rule of the width of the anterior teeth and the anterior arch perimeter, when altered the convexity of the anterior arch, with the width of the maxillary anterior arch keeping constant, and to provide a reliable basis for later digitized and personalized aesthetic analysis of front teeth. METHODS: In the study, 61 front teeth complete and well-arranged models had been selected from the working models after the prostheses in Department of Prosthodontics, Peking University School and Hospital of Stomatology, including 22 male models and 39 female models. A photograph was taken from the occlusal surface of each model using the fixed magnification with a single lens reflex camera. The width of anterior teeth, the width of anterior arch and the convexity of anterior arch had been measured using the Photoshop software. The ratio of the width of the anterior teeth to the width of the anterior arch was calculated. Keeping the width of anterior arch unchanged, the layer free transformation function used to add or decrease the curvature of the anterior arch from 1-5 mm, each circumference of the anterior arch was measured. According to the proportion of their anterior teeth in the anterior arch perimeter, the width of each anterior teeth crown under different convexities of anterior arch was calculated. SPSS 23.0 was used to analyze the ratio of the width anterior teeth to the anterior arch perimeter and correlation between the convexity of the anterior arch and the width of the anterior teeth. RESULTS: The percentages of the median length of the anterior arch in the central incisor, lateral incisor and canine were 36.2%±1.3%, 30.2%±1.5%, and 33.6%±1.4%, respectively. The proportions were normal distributions and not related to the perimeter of the anterior arch. When the width of the anterior arch was constant, there was a positive correlation between the convexity of anterior arch in the range of 5 mm and the width of anterior teeth or the front arch circumference. With each increase or decrease of 1 mm of the convexity of anterior arch, the width of the middle incisor increased or decreased by about 0.18 mm, the half circumference of the anterior arch increased or decreased by about 0.50 mm. CONCLUSION: The width of the anterior teeth in the middle-distal direction remained stable in the anterior arch circumference. Within a certain range, when the width of the maxillary anterior arch remains unchanged, the width of the anterior teeth and the perimeter of the anterior teeth are positively correlated to the convexity of the anterior arch.


Asunto(s)
Diente Canino , Incisivo , Arco Dental , Femenino , Humanos , Masculino , Maxilar , Odontometría , Programas Informáticos
13.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(1): 138-143, 2020 Feb 18.
Artículo en Chino | MEDLINE | ID: mdl-32071477

RESUMEN

OBJECTIVE: To evaluate the three-dimensional (3D) reconstruction accuracy of the intercuspal occlusion (ICO) of the dental casts, by the dental articulator position method, and provide a reference for clinical application. METHODS: The standard dental casts in ICO were mounted on average values articulator, and five pairs of milling resin cylinders were respectively attached to the base of both the casts. 100 µm articulating paper and occlusal record silicone rubber were used to detect the occlusal contact number between the posterior teeth of casts mounted on articulator in ICO. The occlusal contact numbers NA detected by the two methods were calculated simultaneously, as the reference. After the upper and lower casts were scanned separately, and the buccal data of casts in ICO were scanned with the aid of the dental articulator position, registration was carried out utilizing the registration software. Then the digital casts mounted in ICO as well as the buccal occlusal data were saved in standard tessellation language (STL) format. Geomagic Studio 2013 software was used to analyze the contact number NS between digital upper and lower casts by the "deviation analysis" function. The differences were compared between NS and NA, to evaluate the sensitivity and positive predict value (PPV) of the model scanner to reproduce the occlusal contact with the aid of dental articulator position. The distance DR between the centers of the circles at the top surface of the upper and lower corresponding cylinders was obtained by the three-coordinate measuring system Faro Edge, as the reference value. The Geomagic Studio 2013 software was used to construct the cylinders of digital casts and the distance DM between the centers of the circles at the top surface of the corresponding cylinders were measured, as the test value. The one-sample T test was used to analyze the variable differences between DM and DR. RESULTS: The PPV of reproducing the occlusal contact point was 0.76 and sensitivity was 0.81. The distance error of the opposite cylinder was (0.232±0.089) mm. There was no statistical difference between the feature points 5-5', while there were statistical differences between the other feature points. CONCLUSION: By the dental articulator position method, the model scanner reproduces the occlusal contact point with high sensitivity and PPV, and that meets clinical needs. Meanwhile, the distance between the feature points is greater than the reference value, which will lead to occlusal disturbance, and require clinical grinding.


Asunto(s)
Articuladores Dentales , Modelos Dentales , Oclusión Dental , Imagen Tridimensional , Registro de la Relación Maxilomandibular , Programas Informáticos
14.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(1): 144-151, 2020 Feb 18.
Artículo en Chino | MEDLINE | ID: mdl-32071478

RESUMEN

OBJECTIVE: To analyze the distribution and area of occlusal contacts of clinical dental model using three kinds of digital analysis methods, to compare the results of these methods and traditional occlusal analysis method, and to further analyze the characteristics of each digital analysis method. METHODS: A set of plaster models of normal subjects was selected. The models were scanned by lab scanner 3shape E4 and the files were exported in a stereolithography file format. In 3D analysis software Geomagic Studio 2013 and Geomagic Qualify 2013, the corresponding results of 3D occlusal contact distribution and occlusal contact area were obtained through three digital analysis methods: "3D color difference map method", "point cloud analysis method", and "virtual articulating paper method". The occlusal contact distribution and occlusal contact area were also obtained by two traditional occlusal analysis methods: "silicone interocclusal recording material method" and "scanned articulating paper mark method". A threshold of 100 µm was used to analyze the occlusal contacts and 100 µm was also the thickness of articulating paper used in this study. The results of these five different occlusal analysis methods were evaluated qualitatively and quantitatively. RESULTS: The results of 3D occlusal contact distribution obtained by the above five methods were basically consistent. The total occlusal contact area obtained by 3D color difference map method, point cloud analysis method, virtual articulating paper method, silicone interocclusal recording material method and scanned articulating paper mark method were 133.10 mm², 142.08 mm², 128.95 mm², 163.31 mm², and 100.55 mm² respectively. There was little difference between the results of three digital analysis methods. The results of occlusal contact area obtained by the digital methods and the traditional methods were different. CONCLUSION: The three digital analysis methods can provide reliable and accurate analysis results of occlusal contact distribution and occlusal contact area of dental model. The results obtained by these methods can serve as references for the digital occlusal surface design of dental prosthesis and clinical occlusal analysis.


Asunto(s)
Modelos Dentales , Programas Informáticos , Imagen Tridimensional
15.
Int J Prosthodont ; 33(2): 224-228, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32069348

RESUMEN

PURPOSE: To develop a new digital method for color-mixing analysis and to evaluate the validity of this method for quantifying masticatory performance. MATERIALS AND METHODS: Specimens of red-green (RG) chewing gum were prepared as a bicolor test food. A total of 300 specimens were masticated by 20 healthy volunteers for different numbers of mastication cycles (from 1 to 25). The boluses were flattened and scanned, and the digital images were analyzed using ImageJ software. Two parameters (spatial and value) of color mixing were measured, and multiple regression analysis was performed to estimate the number of mastication cycles. The estimated number of mastication cycles that the healthy reference cohort needed to achieve a certain degree of color mixing was proposed as the mastication index (MI). The validity of this method was assessed using Pearson correlation between the MI and concurrent measurements with ViewGum software (variance of hue) within a group of 10 healthy subjects and 10 complete denture wearers. RESULTS: Independent samples t test showed a significant difference in MI between healthy subjects and denture wearers (P < .001). A significant correlation was observed between the MI and ViewGum outcomes (r = -0.95, P < .001). CONCLUSION: The new proposed method proved to be valid and has the potential for evaluating masticatory performance in both research and clinical settings.


Asunto(s)
Goma de Mascar , Dentadura Completa , Color , Humanos , Masticación , Programas Informáticos
16.
Am J Orthod Dentofacial Orthop ; 157(2): 148-155.e1, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32005465

RESUMEN

INTRODUCTION: A prospective randomized study was undertaken to compare conventional study model-based manual Peer Assessment Rating (PAR) scoring with computer-based automated scoring using scanned study models or intraoral scanning. METHODS: The sample consisted of 67 patients, mean age 15.03 (range 11-37) years. Sixty-seven patients underwent alginate impression-taking and intraoral scanning (CS 3600; Carestream Dental, Stuttgart, Germany) at a single appointment in a randomized order. For each patient, a weighted PAR score was calculated manually by a calibrated examiner using study models and a PAR ruler (conventional group), and automatically using Carestream Dental CS Model+ software and data from scanned study models (indirect digital group) or intraoral scans (direct digital group). All procedures were timed, and each patient completed a binary questionnaire relating to their experience. RESULTS: There were no significant differences between methods for calculated mean weighted PAR score (P = 0.68). Mean (standard deviation) chairside time for impression-taking was 5.35 (± 1.16) minutes and for intraoral scanning, 7.76 (± 2.76) minutes (P <0.05). Mean (standard deviation) times taken to calculate weighted PAR scores were 2.86 (± 0.96), 5.58 (± 2.33), and 4.58 (± 2.18) minutes for conventional, indirect digital, and direct digital groups, respectively (P >0.05). A total of 61 patients (91%) preferred intraoral scanning to impression-taking. CONCLUSIONS: Automated PAR scoring using cast study models or intraoral scanning is valid, though both methods take longer than conventional scoring. Patients prefer intraoral scanning to impression-taking. REGISTRATION: ClinicalTrials.gov (NCT03405961). PROTOCOL: The protocol was not published before study commencement.


Asunto(s)
Diseño Asistido por Computador , Técnica de Impresión Dental , Adolescente , Adulto , Niño , Modelos Dentales , Humanos , Imagen Tridimensional , Estudios Prospectivos , Programas Informáticos , Adulto Joven
17.
Mol Genet Genomics ; 295(2): 261-274, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31894399

RESUMEN

Facing the explosive growth of biological sequences unearthed in the post-genomic age, one of the most important but also most difficult problems in computational biology is how to express a biological sequence with a discrete model or a vector, but still keep it with considerable sequence-order information or its special pattern. To deal with such a challenging problem, the ideas of "pseudo amino acid components" and "pseudo K-tuple nucleotide composition" have been proposed. The ideas and their approaches have further stimulated the birth for "distorted key theory", "wenxing diagram", and substantially strengthening the power in treating the multi-label systems, as well as the establishment of the famous "5-steps rule". All these logic developments are quite natural that are very useful not only for theoretical scientists but also for experimental scientists in conducting genetics/genomics analysis and drug development. Presented in this review paper are also their future perspectives; i.e., their impacts will become even more significant and propounding.


Asunto(s)
Desarrollo de Medicamentos/tendencias , Genoma Humano/genética , Genómica/tendencias , Algoritmos , Biología Computacional/tendencias , Humanos , Programas Informáticos
18.
Nat Commun ; 11(1): 542, 2020 Jan 28.
Artículo en Inglés | MEDLINE | ID: mdl-31992710

RESUMEN

Understanding the impact of rare variants is essential to understanding human health. We analyze rare (MAF < 0.1%) variants against 4264 phenotypes in 49,960 exome-sequenced individuals from the UK Biobank and 1934 phenotypes (1821 overlapping with UK Biobank) in 21,866 members of the Healthy Nevada Project (HNP) cohort who underwent Exome + sequencing at Helix. After using our rare-variant-tailored methodology to reduce test statistic inflation, we identify 64 statistically significant gene-based associations in our meta-analysis of the two cohorts and 37 for phenotypes available in only one cohort. Singletons make significant contributions to our results, and the vast majority of the associations could not have been identified with a genotyping chip. Our results are available for interactive browsing in a webapp (https://ukb.research.helix.com). This comprehensive analysis illustrates the biological value of large, deeply phenotyped cohorts of unselected populations coupled with NGS data.


Asunto(s)
Exoma/genética , Variación Genética , Genoma Humano , Estudio de Asociación del Genoma Completo , Fenotipo , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Bases de Datos Genéticas , Europa (Continente) , Femenino , Genética de Población/estadística & datos numéricos , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Metaanálisis como Asunto , Persona de Mediana Edad , Programas Informáticos , Secuenciación del Exoma Completo , Adulto Joven
19.
Genome Biol ; 21(1): 10, 2020 01 14.
Artículo en Inglés | MEDLINE | ID: mdl-31937348

RESUMEN

Although scRNA-seq is now ubiquitously adopted in studies of intratumor heterogeneity, detection of somatic mutations and inference of clonal membership from scRNA-seq is currently unreliable. We propose DENDRO, an analysis method for scRNA-seq data that clusters single cells into genetically distinct subclones and reconstructs the phylogenetic tree relating the subclones. DENDRO utilizes transcribed point mutations and accounts for technical noise and expression stochasticity. We benchmark DENDRO and demonstrate its application on simulation data and real data from three cancer types. In particular, on a mouse melanoma model in response to immunotherapy, DENDRO delineates the role of neoantigens in treatment response.


Asunto(s)
Heterogeneidad Genética , Técnicas Genéticas , Neoplasias/genética , Filogenia , Programas Informáticos , Animales , Humanos , Ratones , Análisis de la Célula Individual
20.
Artículo en Alemán | MEDLINE | ID: mdl-31915865

RESUMEN

Digital public health applications are becoming increasingly popular; for example, about 45% of smartphone users have health or fitness apps on their devices. Most of these applications transfer the user's personal data to the provider of the health app. Application providers must comply with the relevant data protection statutes.In this article we provide a survey of important data protection requirements and the necessary technical measures for data security that the provider of a health app must observe. This includes - amongst other things - mechanisms for consent, determination of and compliance with the legitimate purposes of the processing, and the granting of so-called "rights of the data subject" (e.g. right of access). Furthermore, the provider of the health application must follow best practice recommendations from the area of data security. Therefore, the provider must ensure that, for example, unauthorized access, manipulation, loss, and destruction of personal data are prevented by appropriate technical and organizational measures. State-of-the-art procedures such as encryption, rights management, securing integrity, pseudonymization, and logging are some examples of technical and organizational measures. When implementing these measures, it must be taken into account that the processing of health data generally entails high risk for the rights and freedoms of the data subjects and that unauthorized access to and/or manipulation of data, for example, can lead to the publication of a stigmatizing diagnosis or incorrect medication.


Asunto(s)
Seguridad Computacional , Salud Pública , Alemania , Humanos , Programas Informáticos
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