The future of laboratory medicine - A 2014 perspective.

Predicting the future is a difficult task. Not surprisingly, there are many examples and assumptions that have proved to be wrong. This review surveys the many predictions, beginning in 1887, about the future of laboratory medicine and its sub-specialties such as clinical chemistry and molecular pathology. It provides a commentary on the accuracy of the predictions and offers opinions on emerging technologies, economic factors and social developments that may play a role in shaping the future of laboratory medicine

Acute Myeloid Leukemia

Acute myeloid leukemia (AML) is the most common type of leukemia. The Cancer Genome Atlas Research Network has demonstrated the increasing genomic complexity of acute myeloid leukemia (AML). In addition, the network has facilitated our understanding of the molecular events leading to this deadly form of malignancy for which the prognosis has not improved over past decades. AML is a highly heterogeneous disease, and cytogenetics and molecular analysis of the various chromosome aberrations including deletions, duplications, aneuploidy, balanced reciprocal translocations and fusion of transcription factor genes and tyrosine kinases has led to better understanding and identification of subgroups of AML with different prognoses. Furthermore, molecular classification based on mRNA expression profiling has facilitated identification of novel subclasses and defined high-, poor-risk AML based on specific molecular signatures. However, despite increased understanding of AML genetics, the outcome for AML patients whose number is likely to rise as the population ages, has not changed significantly. Until it does, further investigation of the genomic complexity of the disease and advances in drug development are needed. In this review, leading AML clinicians and research investigators provide an up-to-date understanding of the molecular biology of the disease addressing advances in diagnosis, classification, prognostication and therapeutic strategies that may have significant promise and impact on overall patient survival

Clinical exome performance for reporting secondary genetic findings.

BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG). However, the performance of clinical exome methods for reporting small subsets of genes has not been previously reported. METHODS : In this study, 57 exome data sets performed as clinical (n ! 12) or research (n ! 45) tests were retrospec- tively analyzed. Exome sequencing data was examined for adequacy in the detection of potentially pathogenic variant locations in the 56 genes described in the ACMG incidental findings recommendation. All exons of the 56 genes were examined for adequacy of sequencing coverage. In addition, nucleotide positions annotated in HGMD (Human Gene Mutation Database) were examined. RESULTS : The 56 ACMG genes have 18336 nucleotide variants annotated in HGMD. None of the 57 exome data sets possessed a HGMD variant. The clinical exome test had inadequate coverage for " 50% of HGMD vari- ant locations in 7 genes. Six exons from 6 different genes had consistent failure across all 3 test methods; these exons had high GC content (76%–84%). CONCLUSIONS : The use of clinical exome sequencing for the interpretation and reporting of subsets of genes requires recognition of the substantial possibility of inadequate depth and breadth of sequencing coverage at clinically relevant locations. Inadequate depth of coverage may contribute to false-negative clinical ex- ome results

Hierarchical Coding for Distributed Computing

Coding for distributed computing supports low-latency computation by relieving the burden of straggling workers. While most existing works assume a simple master-worker model, we consider a hierarchical computational structure consisting of groups of workers, motivated by the need to reflect the architectures of real-world distributed computing systems. In this work, we propose a hierarchical coding scheme for this model, as well as analyze its decoding cost and expected computation time. Specifically, we first provide upper and lower bounds on the expected computing time of the proposed scheme. We also show that our scheme enables efficient parallel decoding, thus reducing decoding costs by orders of magnitude over non-hierarchical schemes. When considering both decoding cost and computing time, the proposed hierarchical coding is shown to outperform existing schemes in many practical scenarios.Comment: 7 pages, part of the paper is submitted to ISIT201

Review article: the global emergence of Helicobacter pylori antibiotic resistance.

BackgroundHelicobacter pylori is one of the most prevalent global pathogens and can lead to gastrointestinal disease including peptic ulcers, gastric marginal zone lymphoma and gastric carcinoma.AimTo review recent trends in H. pylori antibiotic resistance rates, and to discuss diagnostics and treatment paradigms.MethodsA PubMed literature search using the following keywords: Helicobacter pylori, antibiotic resistance, clarithromycin, levofloxacin, metronidazole, prevalence, susceptibility testing.ResultsThe prevalence of bacterial antibiotic resistance is regionally variable and appears to be markedly increasing with time in many countries. Concordantly, the antimicrobial eradication rate of H. pylori has been declining globally. In particular, clarithromycin resistance has been rapidly increasing in many countries over the past decade, with rates as high as approximately 30% in Japan and Italy, 50% in China and 40% in Turkey; whereas resistance rates are much lower in Sweden and Taiwan, at approximately 15%; there are limited data in the USA. Other antibiotics show similar trends, although less pronounced.ConclusionsSince the choice of empiric therapies should be predicated on accurate information regarding antibiotic resistance rates, there is a critical need for determination of current rates at a local scale, and perhaps in individual patients. Such information would not only guide selection of appropriate empiric antibiotic therapy but also inform the development of better methods to identify H. pylori antibiotic resistance at diagnosis. Patient-specific tailoring of effective antibiotic treatment strategies may lead to reduced treatment failures and less antibiotic resistance

Twenty years of technology and strategic roadmapping research: A school of thought perspective

© 2020 Two decades ago the thirtieth-anniversary special issue of Technological Forecasting and Social Change correctly anticipated the widespread adoption of technology and strategic roadmapping at firm, sectoral and national levels. In this article, we explore the evolution of roadmapping studies since that time. Drawing on a mixed-methods approach (i.e. topic modelling, genealogical analysis, content analysis and interviews), we reveal the development of seven distinctive ‘schools of thought’: the Cambridge practical school, the Seoul school, the Portland and Bangkok schools, the Cambridge phenomenological school, the Beijing school and the Moscow school. We show that the schools differ in terms of (a) the research orientation, whether it be solution- or theory-oriented; (b) the research methods and data sources being used; and (c) the nature of contributions that each school seeks to achieve. The different areas of emphasis associated with each school are not competing but complementary, and together they develop the eclectic body of knowledge on roadmapping

Adsorption-induced conversion of the carbon nanotube field effect transistor from ambipolar to unipolar behavior

We investigate ambipolar to unipolar transition by the effect of ambient air on the carbon nanotube field-effect transistor. A unipolar transport property of the double-walled nanotube field-effect transistor and its conversion from ambipolar behavior are observed. We suggest that adsorptions of oxygen molecules, whose lowest-unoccupied-molecular-orbital state is around the midgap of the carbon nanotube, could suppress the electron channel formation and, consequently, result in the unipolar transport behavior.open343

Temperature dependent core-level photoemission study of UNiSn

UNiSn undergoes an anomalous phase transition at T-N = 47 K, at which temperature it transforms from an antiferromagnetic metal to a paramagnetic semiconductor with an energy gap similar or equal to 70 meV. In order to investigate how the electronic structure of UNiSn changes as it crosses the transition temperature, we have used the X ray photoemission spectroscopy (XPS) technique from 20 to 70 K. According to the XPS studies, the U 4f core levels are almost temperature independent while the Ni 2p core levels and the satellite structure display a weak anomaly at T-N

Fabrication of a Highly Sensitive Chemical Sensor Based on ZnO Nanorod Arrays

We report a novel method for fabricating a highly sensitive chemical sensor based on a ZnO nanorod array that is epitaxially grown on a Pt-coated Si substrate, with a top–top electrode configuration. To practically test the device, its O2 and NO2 sensing properties were investigated. The gas sensing properties of this type of device suggest that the approach is promising for the fabrication of sensitive and reliable nanorod chemical sensors

Oxygen-Vacancy-Induced Orbital Reconstruction of Ti Ions at the Interface of LaAlO3/SrTiO3 Heterostructures: A Resonant Soft-X-Ray Scattering Study

Resonant soft-x-ray scattering measurements have been performed to investigate interface electronic structures of (LaAlO3/SrTiO3) superlattices. Resonant scattering intensities at superlattice reflections show clear evidence of degeneracy lifting in t(2g) states of interface Ti ions. Polarization dependence of intensities indicates the energy of d(xy) states is lower by similar to 1 eV than two other t(2g) states. The energy splitting is insensitive to epitaxial strain. The orbital reconstruction is induced by oxygen vacancies and confined to the interface within two unit cells, indicating charge compensation at the polar interfaces. DOI: 10.1103/PhysRevLett.110.017401X112723Nsciescopu