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

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

Analytical Ancestry: “Firsts” in Fluorescent Labeling of Nucleosides, Nucleotides, and Nucleic Acids

Fluorescently labeled nucleosides, nucleotides, and nucleic acids are important types of reagents for biological assay methods and underpin current methods of chromosome analysis, gel staining, DNA sequencing and quantitative PCR. Although these methods use predominantly organic fluorophores, new types of particulate fluorophores in the form of nanoparticles, nanorods, and nanotubes may provide the basis of a new generation of fluorescent labels and nucleic acid detection methods

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

NIEBO NA ZIEMI WEDŁUG ŚWIĘTEJ ELŻBIETY OD TRÓJCY PRZENAJŚWIĘTSZEJ OCD

The article presents the doctrine of heaven on earth which Saint Elizabeth of the Trinity OCD developed in her writings under the influence of her own mystical experiences. The first part describes the idea of heaven in Christianity in general terms. The second part outlines the short life of the French saint and the gradual shaping of the vision of heaven in her spirituality. The last part develops the experience of heaven on earth according to the Carmelite saint, which she described in her texts, mainly in letters. The summary leads to the conclusion that heaven begins in faith, already here on earth. The feeling of the presence of the Holy Trinity in every human soul is fostered, among others, by prayer, trust, silence, and contemplation. Saint Elizabeth recommends this spirituality mainly to lay people.Artykuł przedstawia doktrynę nieba na ziemi, którą, pod wpływem własnych doświadczeń mistycznych, rozwinęła w swoich pismach święta Elżbieta od Trójcy Przenajświętszej OCD. W pierwszej części została zarysowana idea nieba w chrześcijaństwie. W drugiej części przedstawiono kontur krótkiego życia francuskiej świętej i stopniowe kształtowanie się wizji nieba w jej duchowości. Część ostatnia to rozwinięcie koncepcji doświadczenia nieba na ziemi według świętej karmelitanki, które opisała w swoich tekstach, głównie w listach. Podsumowanie prowadzi do konkluzji, że niebo zaczyna się w wierze, już na ziemi, a odczuwaniu obecności Trójcy Świętej w duszy każdego człowieka sprzyja między innymi modlitwa, ufność, cisza i kontemplacja. Święta Elżbieta proponuje tę duchowość głównie osobom świeckim

Nanobiotechnology: the promise and reality of new approaches to molecular recognition

Nanobiotechnology is the convergence of engineering and molecular biology that is leading to a new class of multifunctional devices and systems for biological and chemical analysis with better sensitivity and specificity and a higher rate of recognition. Nano-objects with important analytical applications include nanotubes, nanochannels, nanoparticles, nanopores and nanocapacitors. Here, we take a critical look at the subset of recent developments in this area relevant to molecular recognition. Potential benefits of using nano-objects (nanotubes, quantum dots, nanorods and nanoprisms) and nanodevices (nanocapacitors, nanopores and nanocantilevers) leading to an expanded range of label multiplexing are described along with potential applications in future diagnostics. We also speculate on further pathways in nanotechnology development and the emergence of order in this somewhat chaotic, yet promising, new field

Printed in Great Britain

Abstract : The scope and diversity of immunoassay technology has shown phenomenal growth

Potencial energético de la biomasa procedente de árboles frutales podados en Croacia

 The world's most developed countries and the European Union (EU) deem that the renewable energy sources should partly substitute fossil fuels and become a “bridge” to the utilization of other energy sources of the future. This paper will present the possibility of using pruned biomass from fruit cultivars. It will also present the calculation of potential energy from the mentioned raw materials in order to determine the extent of replacement of non-renewable sources with these types of renewable energy. One of the results of the intensive fruit-growing process, in post pruning stage, is large amount of pruned biomass waste. Based on the calculated biomass (kg ha-1) from intensively grown woody fruit crops that are most grown in Croatia (apple, pear, apricots, peach and nectarine, sweet cherry, sour cherry, prune, walnut, hazelnut, almond, fig, grapevine, and olive) and the analysis of combustible (carbon 45.55-49.28%, hydrogen 5.91-6.83%, and sulphur 0.18-0.21%) and non-combustible matters (oxygen 43.34-46.6%, nitrogen 0.54-1.05%, moisture 3.65-8.83%, ashes 1.52-5.39%) with impact of lowering the biomass heating value (15.602-17.727 MJ kg-1), the energy potential of the pruned fruit biomass is calculated at 4.21 PJ.Los principales países desarrollados del mundo y de la Unión Europea (UE) consideran que las fuentes de energía renovables deberían sustituir parcialmente a los combustibles fósiles y convertirse en el futuro en un “puente” hacia la utilización de otras fuentes de energía. En este trabajo, se planteó la posibilidad de utilizar biomasa cortada procedente de cultivos frutales con el propósito de calcular el potencial energético del mencionado material en bruto, así como determinar el grado de remplazo de fuentes no renovables con este tipo de fuentes de energía renovable. Uno de los resultados del proceso de cultivo de frutales en intensivo, tras la época de poda, es la gran cantidad de biomasa cortada inútil. En base al cálculo de biomasa (kg ha-1) de los frutales leñosos de cultivo intensivo más comunes en el territorio de Croacia (manzano, peral, albaricoquero, melocotonero y nectarino, cerezo, guindo, ciruelo, nogal, avellano, almendro, higuera, viña y olivo) y en base al análisis de partículas combustibles (carbono 45,55-49,28%, hidrógeno 5,91-6,83% y azufre 0,18-0,21%) y de partículas no combustibles (oxígeno 43,34-46,6%, nitrógeno 0,54-1,05%, vapor de agua 3,65-8,83% y cenizas 1,52-5,39%) que influyen en el poder calorífico  inferior de la biomasa (15,602-17,727 MJ kg-1), se calcula que la energía potencial de los restos de poda de frutales es 4.21 PJ