Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence

2018 ◽  
Vol 178 (1) ◽  
pp. 21-32 ◽  
Author(s):  
Margarida Paiva Coelho ◽  
Esmeralda Martins ◽  
Laura Vilarinho
2015 ◽  
Vol 32 (3) ◽  
pp. 153-163
Author(s):  
Md Mizanur Rahman

Current and emerging biomedical science efforts are driven by determining how to improve clini-cal outcomes for patients. High-throughput tech-nology has revolutionized the area of transla-tional research, confirming the high complexity and heterogeneity of common diseases, partic-ularly cancer. Therefore, moving from ‘classic’ single-gene-based molecular investigation to molecular network research might result in dis-covering clinical implications faster and more efficiently .Molecular characterization of tumour cells enables refinement of classifications for many cancers and can sometimes guide treatment. Malignant diseases are no longer classified only by tumour site and histology but are separated into various homogenous molecular subtypes, distinguished by a presumed key molecular alteration. Therapies for patients with cancer have changed gradually over the past decade, moving away from the administration of broadly acting cytotoxic drugs towards the use of more-specific therapies that are targeted to each tumour. To facilitate this shift, tests need to be developed to identify those individuals who require therapy and those who are most likely to benefit from certain therapies. In particular, tests that predict the clinical outcome for patients on the basis of the genes expressed by their tumours are likely to increasingly affect patient management, heralding a new era of personalized medicine. In this review a brief discussion on definition and molecular aspects of personalized medicine and its practical application for the management of common solid cancers are highlighted.J Bangladesh Coll Phys Surg 2014; 32: 153-163


2011 ◽  
Vol 7 (S285) ◽  
pp. 272-272
Author(s):  
Steve Croft ◽  
Bryan Gaensler

SummaryWe are entering a new era in the study of variable and transient radio sources. This workshop discussed the instruments and the strategies employed to study those sources, how they are identified and classified, how results from different surveys can be compared, and how radio observations tie in with those at other wavelengths. The emphasis was on learning what common ground there is between the plethora of on-going projects, how methods and code can be shared, and how best practices regarding survey strategy could be adopted.The workshop featured the four topics below. Each topic commenced with a fairly brief introductory talk, which then developed into discussion. By way of preparation, participants had been invited to upload and discuss one slide per topic to a wiki ahead of the workshop.1. Telescopes, instrumentation and survey strategy. New radio facilities and on-going projects (including upgrades) are both studying the variability of the radio sky, and searching for transients. The discussion first centred on the status of those facilities, and on projects with a time-domain focus, both ongoing and planned, before turning to factors driving choices of instrumentation, such as phased array versus single pixel feeds, the field of view, spatial and time resolution, frequency and bandwidth, depth, area, and cadence of the surveys.2. Detection, pipelines, and classification. The workshop debated (a) the factors that influence decisions to study variability in the (u,v) plane, in images, or in catalogues, (b) whether, and how much, pipeline code could potentially be shared between one project and another, and which software packages are best for different approaches, (c) how data are stored and later accessed, and (d) how transients and variables are defined and classified.3. Statistics, interpretation, and synthesis. It then discussed how (i) the choice of facility and strategy and (ii) detection and classification schemes influence what is seen (in terms of types of object and rates) by different surveys, (iii) how results from different surveys could be compared, and (iv) how what we know from existing surveys drives choices (i) and (ii), particularly as regards finding new classes of object.4. Multiwavelength approaches. The workshop concluded by discussing what information is needed from wavelengths other than radio in order to classify transients and variables adequately and predict their rates as a function of topics (1), (2) and (3). It asked what the constraints are on responding to, and issuing triggers for, follow-up observations, and how that might feed back into considerations for designing our telescopes and surveys.


2015 ◽  
Vol 22 (5) ◽  
pp. 257-260 ◽  
Author(s):  
Bradley S Quon ◽  
Pearce G Wilcox

The gene responsible for cystic fibrosis (CF) was discovered 25 years ago. This breakthrough has enabled a sophisticated understanding of how various mutations lead to specific alterations in the structure and function of the CF transmembrane regulator (CFTR) protein. Until recently, all therapies in CF were focused on ameliorating the downstream consequences of CFTR dysfunction. High-throughput drug screening approaches have yielded compounds that can modify CFTR structure and function, thus targeting the basic defect in CF. The present article describes theCFTRmutational classes, reviews mutation-specific therapies currently in late-phase clinical development, and highlights research opportunities and challenges with personalized medicine in CF.


2019 ◽  
Vol 69 (1) ◽  
pp. 477-506 ◽  
Author(s):  
Kohta Murase ◽  
Imre Bartos

The recent discoveries of high-energy cosmic neutrinos and gravitational waves from astrophysical objects have led to a new era of multimessenger astrophysics. In particular, electromagnetic follow-up observations triggered by these cosmic signals have proved to be highly successful and have brought about new opportunities in time-domain astronomy. We review high-energy particle production in various classes of astrophysical transient phenomena related to black holes and neutron stars, and discuss how high-energy emission can be used to reveal the underlying physics of neutrino and gravitational-wave sources.


2017 ◽  
Vol 4 (2) ◽  
pp. 43-63 ◽  
Author(s):  
Cody S. Lee ◽  
Elliot S. Bishop ◽  
Ruyi Zhang ◽  
Xinyi Yu ◽  
Evan M. Farina ◽  
...  

2009 ◽  
Vol 14 (5) ◽  
pp. 557-558 ◽  
Author(s):  
Jan Trøst Jørgensen

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