Molecular Diagnostics in Melanoma: Current Status and Perspectives

2011 ◽  
Vol 135 (7) ◽  
pp. 860-869 ◽  
Author(s):  
Soheil S. Dadras

Abstract Context.—In the current “molecular” era, the advent of technology, such as array-based platforms, systems biology, and genome-wide approaches, has made it possible to examine human cancers, including melanoma, for genetic mutations, deletions, amplification, differentially regulated genes, and epigenetic changes. Advancement in current technologies is such that one can now examine ribonucleic acid (RNA), deoxyribonucleic acid (DNA), and protein directly from the patient's own tumor. Objective.—To apply these new technologies in advancing molecular diagnostics in melanoma has historically suffered from a major obstacle, namely, the scarcity of fresh frozen, morphologically defined tumor banks, annotated with clinical information. Recently, some of the new platforms have advanced to permit utilization of formalin-fixed, paraffin-embedded (FFPE) tumor specimens as starting material. Data Sources.—This article reviews the latest technologies applied to FFPE melanoma sections, narrowing its focus on the utility of transcriptional profiling, especially for melastatin; comparative genomic hybridization; BRAF and NRAS mutational analysis; and micro ribonucleic acid profiling. Conclusion.—New molecular approaches are emerging and are likely to improve the classification of melanocytic neoplasms.

2021 ◽  
Author(s):  
Jiyeon Yu ◽  
Angelica de Antonio ◽  
Elena Villalba-Mora

BACKGROUND eHealth and Telehealth play a crucial role in assisting older adults who visit hospitals frequently or who live in nursing homes and can benefit from staying at home while being cared for. Adapting to new technologies can be difficult for older people. Thus, to better apply these technologies to older adults’ lives, many studies have analyzed acceptance factors for this particular population. However, there is not yet a consensual framework to be used in further development and the search for solutions. OBJECTIVE This paper presents an Integrated Acceptance Framework (IAF) for the older user’s acceptance of eHealth, based on 43 studies selected through a systematic review. METHODS We conducted a four-step study. First, through a systematic review from 2010 to 2020 in the field of eHealth, the acceptance factors and basic data for analysis were extracted. Second, we carried out a thematic analysis to group the factors into themes to propose and integrated framework for acceptance. Third, we defined a metric to evaluate the impact of the factors addressed in the studies. Last, the differences amongst the important IAF factors were analyzed, according to the participants’ health conditions, verification time, and year. RESULTS Through the systematic review, 731 studies were founded in 5 major databases, resulting in 43 selected studies using the PRISMA methodology. First, the research methods and the acceptance factors for eHealth were compared and analyzed, extracting a total of 105 acceptance factors, which were grouped later, resulting in the Integrated Acceptance Framework. Five dimensions (i.e., personal, user-technology relational, technological, service-related, environmental) emerged with a total of 23 factors. Also, we assessed the quality of the evidence. And then, we conducted a stratification analysis to reveal the more appropriate factors depending on the health condition and the assessment time. Finally, we assess which are the factors and dimensions that are recently becoming more important. CONCLUSIONS The result of this investigation is a framework for conducting research on eHealth acceptance. To elaborately analyze the impact of the factors of the proposed framework, the criteria for evaluating the evidence from the studies that have extracted factors are presented. Through this process, the impact of each factor in the IAF has been presented, in addition to the framework proposal. Moreover, a meta-analysis of the current status of research is presented, highlighting the areas where specific measures are needed to facilitate e-Health acceptance.


2021 ◽  
Vol 64 (1) ◽  
pp. 57-65
Author(s):  
Young Hwan Kim ◽  
Hong Rim Cha ◽  
Ji Eun Lee ◽  
Se Eun Cha ◽  
Yeong Jin Choi

Human-derived materials are a crucial element of research in the life sciences. The Korea Biobank Network (KBN) portal is a shared open platform that provides the nationʼs most extensive disease resources, possessed by Human Bioresource Unit Banks of the KBN, to the public, including those in the fields of industry, academia, and research. This platform was developed to increase the efficient use of national disease resources. In the KBN portal, the current status of disease resources collected in Korea can be checked online. Human bioresources and clinical information are provided to consumers through systematic search and efficient distribution programs. Additionally, by simultaneously operating the KBN Distribution Support Center, we are working to support the rapid and convenient distribution of human resources in response to the needs of consumers. To effectively utilize the open human bioresource sharing platform, it is necessary to introduce an integrated clinical information management system. Currently, the KBN is in the process of establishing standard terminology for data and applying a common data model for the integrated management of various clinical information held by the KBN. We provide communications through the KBN portal, which is interconnected with the distribution support center, regional biobanks, and consumers. In conclusion, the KBN portal will provide open innovation by creating a business or service model by delivering shared open data and internalizing external innovative capabilities.


Digestion ◽  
2021 ◽  
pp. 1-7
Author(s):  
Zili Xiao ◽  
Danian Ji ◽  
Feng Li ◽  
Zhengliang Li ◽  
Zhijun Bao

<b><i>Background:</i></b> With the development of new technologies such as magnifying endoscopy with narrow band imaging, endoscopists achieved better accuracy for diagnosis of gastric cancer (GC) in various aspects. However, to master such skill takes substantial effort and could be difficult for inexperienced doctors. Therefore, a novel diagnostic method based on artificial intelligence (AI) was developed and its effectiveness was confirmed in many studies. AI system using convolutional neural network has showed marvelous results in the ongoing trials of computer-aided detection of colorectal polyps. <b><i>Summary:</i></b> With AI’s efficient computational power and learning capacities, endoscopists could improve their diagnostic accuracy and avoid the overlooking or over-diagnosis of gastric neoplasm. Several systems have been reported to achieved decent accuracy. Thus, AI-assisted endoscopy showed great potential on more accurate and sensitive ways for early detection, differentiation, and invasion depth prediction of gastric lesions. However, the feasibility, effectiveness, and safety in daily practice remain to be tested. <b><i>Key messages:</i></b> This review summarizes the current status of different AI applications in early GC diagnosis. More randomized controlled trails will be needed before AI could be widely put into clinical practice.


2015 ◽  
Vol 38 (3) ◽  
pp. 218-232 ◽  
Author(s):  
Christopher Konialis ◽  
Constantinos Pangalos ◽  
. InterGenetics

Introduction: The aim of this article is to provide a perspective of prenatal chromosomal diagnosis (PCD) derived from a single center's evolving experience from ∼90,000 consecutive prenatal cases and to highlight important issues and current dilemmas. Materials and Methods: Prenatal cases in this study (1985-2013) were referred for various indications, and PCD was performed by standard karyotype in 84,255 cases, multiplex ligation-dependent probe amplification (MLPA) panel in 3,010 cases and standalone array comparative genomic hybridization (aCGH) in 3,122 cases. Results: Classic karyotype revealed 1.7 and 7.9% of pathological cases in amniotic fluid and CVS samples, respectively, with common aneuploidies accounting for 59.6 and 64.3% of the total abnormal. Molecular approaches increased the diagnostic yield by 0.6% for MLPA and 1.6% for aCGH, uncovering pathogenic chromosomal abnormalities undetectable by karyotype analysis. Conclusions: Current molecular diagnostic capabilities and the recent introduction of noninvasive prenatal testing (NIPT) point to one current major dilemma in PCD, with serious implications in genetic counseling, relating on the one hand to reaping the benefits from the high detection rate afforded through aCGH but accepting an invasive risk, and on the other hand, offering a lower detection rate practically only for Down syndrome, with minimal invasive risk.


2011 ◽  
pp. 2029-2034 ◽  
Author(s):  
Dimitra Petroudi ◽  
Nikolaos Giannakakis

A hospital information system (HIS), variously also called clinical information system (CIS), is a comprehensive, integrated information system designed to manage the administrative, financial, and clinical aspects of a hospital. This encompasses paper-based information processing as well as data processing machines. As an area of medical informatics, the aim of an HIS is to achieve the best possible support of patient care and administration by electronic data processing. It can be composed of one or few software components with specialty specific extensions, as well as of a large variety of subsystems in medical specialties (e.g., laboratory information system, radiology information system). CISs are sometimes separated from HISs in that the former concentrate on patient and clinical state-related data (electronic patient record), whereas the latter keeps track of administrative issues. The distinction is not always clear, and there is contradictory evidence against a consistent use of both terms.


2002 ◽  
Vol 8 (4) ◽  
pp. 291-296 ◽  
Author(s):  
Roy McClelland ◽  
Victoria Thomas

‘Security holds the key’ was the title of a newspaper article concerned with e-commerce (D. Sumner-Smith, The Sunday Times, 6 February, 2000, p. 3.13). However, it applies just as readily to the health sector. The need to safeguard the confidentiality of information that patients share with clinicians is as fundamental as the principle of consent. This issue has come to the fore in the context of the rapid developments and applications of information and communication technologies within society in general and within the health sector in particular. There are also changing societal expectations regarding access to information, confidentiality and disclosure. The emerging scenarios present significant challenges in relation to the traditional methods used to deal with the privacy and confidentiality of personal information (Anderson, 1995). In addition to the impact of new technologies, consideration also needs to be given to the impact of changes in health care organisation and practice, for example multidisciplinary and multi-agency working. Mental health services are in many respects at the vanguard of these changes, where the ideals of community care, shared care and seamless care depend fundamentally on good communication and information sharing. Failures in communicating information, particularly across sectoral boundaries, have led to significant problems in patient care, as revealed in several recent enquiries into homicides (Northamptonshire Health Authority & Northamptonshire Social Services, 1999)


Plants ◽  
2020 ◽  
Vol 9 (11) ◽  
pp. 1454
Author(s):  
Kyung Do Kim ◽  
Yuna Kang ◽  
Changsoo Kim

Plant breeding has a long history of developing new varieties that have ensured the food security of the human population. During this long journey together with humanity, plant breeders have successfully integrated the latest innovations in science and technologies to accelerate the increase in crop production and quality. For the past two decades, since the completion of human genome sequencing, genomic tools and sequencing technologies have advanced remarkably, and adopting these innovations has enabled us to cost down and/or speed up the plant breeding process. Currently, with the growing mass of genomic data and digitalized biological data, interdisciplinary approaches using new technologies could lead to a new paradigm of plant breeding. In this review, we summarize the overall history and advances of plant breeding, which have been aided by plant genomic research. We highlight the key advances in the field of plant genomics that have impacted plant breeding over the past decades and introduce the current status of innovative approaches such as genomic selection, which could overcome limitations of conventional breeding and enhance the rate of genetic gain.


2014 ◽  
Vol 28 (8) ◽  
pp. 2277-2301 ◽  
Author(s):  
Andreas M. Kaiser ◽  
Guy R. Orangio ◽  
Massarat Zutshi ◽  
Suraj Alva ◽  
Tracy L. Hull ◽  
...  

2005 ◽  
Vol 45 (8) ◽  
pp. 995 ◽  
Author(s):  
A. E. Lew ◽  
L. A. Jackson ◽  
M. I. Bellgard

Non-coding (nc) RNAs are important regulators of developmental genes, and essential for the modification of cellular DNA and chromatin through a process known as RNA interference (RNAi). The mediators of RNAi can be in the form of short double stranded (ds) RNAs, micro (mi) RNAs or small interfering (si) RNAs. miRNAs are involved in a translation repression pathway that inhibits protein translation in mRNA targets. Comparative genomic screens have revealed conserved regulatory non-coding sequences, which assist to predict the function of endogenous miRNAs. Only a few comparative studies include bovine genomic sequence, and RNAi has yet to be applied in bovine genome functional screens. siRNAs target homologous mRNAs for degradation, and thereby, silence specific genes. The use of synthetic siRNAs facilitates the elucidation of gene pathways by specific gene knockdown. A survey of the literature identifies a small number of reports using RNAi to examine immune pathways in bovine cell lines; however, they do not target genes involved in specific production traits. Applications of RNAi to elucidate bovine immune pathways for relevant bacterial and parasite diseases are yet to be reported. The inhibition of viral replication using RNAi has been demonstrated with bovine RNA viruses such as pestivirus and foot and mouth disease virus signifying the potential of RNAi as an antiviral therapeutic. RNAi approaches combined with genome data for protozoan parasites, insects and nematodes, will expedite the identification of novel targets for the treatment and prevention of economically important parasitic infections. This review will examine the approaches used in mammalian RNAi research, the current status of its applications to livestock systems and will discuss potential applications in beef cattle programs.


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