Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

BACKGROUND: DNA Ligase IV deficiency syndrome is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV gene (LIG4). The clinical phenotype shows overlap with a number of other rare syndromes, including Seckel syndrome, Nijmegen breakage syndrome, and Fanconi anemia. Thus the clinical diagnosis is often delayed and established by exclusion. METHODS: We describe a patient with pre- and postnatal growth retardation and dysmorphic facial features in whom the diagnoses of Seckel-, Dubowitz-, and Nijmegen breakage syndrome were variably considered. Cellular radiosensitivity in the absence of clinical manifestations of Ataxia telangiectasia lead to the diagnosis of DNA ligase IV (LIG4) deficiency syndrome, confirmed by compound heterozygous mutations in the LIG4 gene. At age 11, after a six year history of progressive bone marrow failure and increasing transfusion dependency the patient was treated with matched sibling donor hematopoetic stem cell transplantation (HSCT) using a fludarabine-based conditioning regimen without irradiation. RESULTS: The post-transplantation course was uneventful with rapid engraftment leading to complete and stable chimerism. Now at age 16, the patient has gained weight and is in good clinical condition. CONCLUSION: HSCT using mild conditioning without irradiation qualifies as treatment of choice in LIG4-deficient patients who have a matched sibling donor

Negative perceptions of aging and decline in walking speed: A self-fulfilling prophecy

Introduction Walking speed is a meaningful marker of physical function in the aging population. While it is a primarily physical measure, experimental studies have shown that merely priming older adults with negative stereotypes about aging results in immediate declines in objective walking speed. What is not clear is whether this is a temporary experimental effect or whether negative aging stereotypes have detrimental effects on long term objective health. We sought to explore the association between baseline negative perceptions of aging in the general population and objective walking speed 2 years later. Method 4,803 participations were assessed over 2 waves of The Irish Longitudinal Study on Ageing (TILDA), a prospective, population representative study of adults aged 50+ in the Republic of Ireland. Wave 1 measures – which included the Aging Perceptions Questionnaire, walking speed and all covariates - were taken between 2009 and 2011. Wave 2 measures – which included a second measurement of walking speed and covariates - were collected 2 years later between March and December 2012. Walking speed was measured as the number of seconds to complete the Timed Up-And-Go (TUG) task. Participations with a history of stroke, Parkinson’s disease or an MMSE < 18 were excluded. Results After full adjustment for all covariates (age, gender, level of education, disability, chronic conditions, medications, global cognition and baseline TUG) negative perceptions of aging at baseline were associated with slower TUG speed 2 years later (B=.03, 95% CI = .01 to 05, p< .01). Conclusions Walking speed has previously been considered to be a consequence of physical decline but these results highlight the direct role of psychological state in predicting an objective aging outcome. Negative perceptions about aging are a potentially modifiable risk factor of some elements of physical decline in aging

Towards a library for process programming

Abstract. Process programming is regarded as a critical approach in many cooperative process related areas including software engineering, workflow management, business process management, etc. Many process models, languages, and corresponding runtime support systems have been developed. We argue that a comprehensive library for process programming is essential for the acceptance, popularity, and success of this new programming paradigm. We define an architecture of such a library and present some mechanisms on how the architecture is implemented in the context of P, a process language and system for developing integrated cooperation applications.

EXTREMOPHILIC HOMOCETOGENIC BACTERIA: PHYSIOLOGY, METABOLISM AND BIO-TECHNOLOGICAL POTENTIAL

The work covers the homoacetogenic bacteria of the extremophilic inhabitation places. The aim is to study the special features of the physiology and metabolism, regularities of their existence in the thermophilic and halophilic associations, to study the possibilities of their application in the bio-technology as acetate producers. It has been determined that the special physiological-biochemical features of the homoacetogenic bacteria determine their key role in the extremophilic microbic associations. The factors regulating the growth and activity of the key matabolism enzymes have been revealed. It has been specified that the catalytic properties of the hydrogenases determine their ability to the hygrogen metabolism. The role of the natrium energetics as a procedure of providing energy among extreme-halophilic bacteria has been specified. The biocatalytic system of creating acetate at the expense of conversing gas substrates on base of the immobilized cells of the thermophilic acetogenes has been developed that is a supposition for creation of the new bio-technologies.Available from VNTIC / VNTIC - Scientific & Technical Information Centre of RussiaSIGLERURussian Federatio

Methodological development of a quality index for agricultural operations, for corn cultivation using multi-criterion analysis

One of the major problems in the Brazilian agriculture is related to the production loss in the field, which, due to many factors, is not being considered. This article has the objective to develop a methodology to identify a quality index which integrates some crop quality variables which are able to indicate how the crop is developing in terms of loss in the field. The results have showed that the strategy of multi-criterion analysis and Fuzzy logic proved to be important tools for the assessment and preparation of a quality index for corn production. The index proposed performed well in representing the quality of agricultural operations when compared with reality.<br>Um dos maiores problemas na agricultura brasileira refere-se à perda da produção no campo que, devido a vários fatores, não é considerada. Este artigo tem o objetivo de desenvolver uma metodologia para identificar um índice de qualidade que integre algumas variáveis qualitativas da cultura que são capazes de mostrar como está o desenvolvimento em termos de perda no campo. Os resultados mostraram que a análise de multicritério e lógica fuzzy são ferramentas importantes na verificação e confecção de um índice de qualidade de perdas, para a cultura do milho. O índice calculado representou bem a qualidade das operações agrícolas, quando comparado com a realidade