Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

Neurofibromatoses are a group of genetic disorders with predisposing for central and peripheral nervous system tumor development. The group includes three entities: neurofibromatosis type I, neurofibromatosis type II and schwannomatosis, which are characterized by gradual phenotype development and have a partially overlapping spectrum of manifestations, which complicates diagnosis establishing, especially at the stage of clinical onset. At the same time, the emergence of new pathogenetic therapy and the high risk of transmission to descendants actualize the necessity of early diagnosis. DNA tests allow us to reliably confirm the presumed diagnosis. This article presents a review of neurofibromatoses, their clinical features and courses, modern diagnostic criteria and indications for DNA tests

The utilisation of health research in policy-making: Concepts, examples and methods of assessment

The importance of health research utilisation in policy-making, and of understanding the mechanisms involved, is increasingly recognised. Recent reports calling for more resources to improve health in developing countries, and global pressures for accountability, draw greater attention to research-informed policy-making. Key utilisation issues have been described for at least twenty years, but the growing focus on health research systems creates additional dimensions. The utilisation of health research in policy-making should contribute to policies that may eventually lead to desired outcomes, including health gains. In this article, exploration of these issues is combined with a review of various forms of policy-making. When this is linked to analysis of different types of health research, it assists in building a comprehensive account of the diverse meanings of research utilisation. Previous studies report methods and conceptual frameworks that have been applied, if with varying degrees of success, to record utilisation in policy-making. These studies reveal various examples of research impact within a general picture of underutilisation. Factors potentially enhancing utilisation can be identified by exploration of: priority setting; activities of the health research system at the interface between research and policy-making; and the role of the recipients, or 'receptors', of health research. An interfaces and receptors model provides a framework for analysis. Recommendations about possible methods for assessing health research utilisation follow identification of the purposes of such assessments. Our conclusion is that research utilisation can be better understood, and enhanced, by developing assessment methods informed by conceptual analysis and review of previous studies

Peer expectations about outstanding competencies of men and women medical students

Men and women enrolled in a combined premedical-medical school programme were asked as they began their clinical training to rate their anticipated competence on sixteen criteria relevant to medical practice. Competence dimensions tapped scientific/technical skills, dedication/commitment, and interpersonal skills. Students then were asked to nominate one classmate whom they expected might be‘the best’in each area. Self-ratings revealed few differences among men and women. Peer nominations, however, revealed a preponderance of male nominees in ten competence areas. Women dominated nominations only in the category of sensitivity to patients. Patterns persisted when peer nominations were controlled for students’academic standing and self-ratings on parallel dimensions. The data suggest that medical school peer groups share expectations about competencies of men and women as physicians which are consistent with generalized sex stereotypes and career patterns of men and women physicians.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/74843/1/1467-9566.ep11340055.pd

Restrictions into opportunities: how boundaries in the life course can shape educational pathways

This study explores relationships between experiences in initial education, subsequent life experiences/opportunities and the decision to return to education later in life. Semi-structured interviews with seven female returners to education, focused initially upon the women’s perceptions of their aspirations and motivations at various ages, how these related to the choices they felt they had available to them at different points in time, and their sense of agency. Subsequently, the interviewees considered the relationship between early educational experiences, post-school experiences, and their current choices. Thematic analysis of the interview transcripts led to the identification of four main themes: restrictions, opportunities, personal development, and an underlying theme of planning. Consideration of the relationships between these themes led to the conclusion that it was life experiences rather than initial education that both motivated and empowered the interviewees to take advantage of opportunities for higher education

Crowd guilds: Worker-led reputation and feedback on crowdsourcing platforms

Crowd workers are distributed and decentralized. While decentralization is designed to utilize independent judgment to promote high-quality results, it paradoxically undercuts behaviors and institutions that are critical to high-quality work. Reputation is one central example: crowdsourcing systems depend on reputation scores from decentralized workers and requesters, but these scores are notoriously inflated and uninformative. In this paper, we draw inspiration from historical worker guilds (e.g., in the silk trade) to design and implement crowd guilds: centralized groups of crowd workers who collectively certify each other’s quality through double-blind peer assessment. A two-week field experiment compared crowd guilds to a traditional decentralized crowd work model. Crowd guilds produced reputation signals more strongly correlated with ground-truth worker quality than signals available on current crowd working platforms, and more accurate than in the traditional model

SBDS Expression and Localization at the Mitotic Spindle in Human Myeloid Progenitors

BACKGROUND: Shwachman-Diamond Syndrome (SDS) is a hereditary disease caused by mutations in the SBDS gene. SDS is clinically characterized by pancreatic insufficiency, skeletal abnormalities and bone marrow dysfunction. The hematologic abnormalities include neutropenia, neutrophil chemotaxis defects, and an increased risk of developing Acute Myeloid Leukemia (AML). Although several studies have suggested that SBDS as a protein plays a role in ribosome processing/maturation, its impact on human neutrophil development and function remains to be clarified. METHODOLOGY/PRINCIPAL FINDINGS: We observed that SBDS RNA and protein are expressed in the human myeloid leukemia PLB-985 cell line and in human hematopoietic progenitor cells by quantitative RT-PCR and Western blot analysis. SBDS expression is downregulated during neutrophil differentiation. Additionally, we observed that the differentiation and proliferation capacity of SDS-patient bone marrow hematopoietic progenitor cells in a liquid differentiation system was reduced as compared to control cultures. Immunofluorescence analysis showed that SBDS co-localizes with the mitotic spindle and in vitro binding studies reveal a direct interaction of SBDS with microtubules. In interphase cells a perinuclear enrichment of SBDS protein which co-localized with the microtubule organizing center (MTOC) was observed. Also, we observed that transiently expressed SDS patient-derived SBDS-K62 or SBDS-C84 mutant proteins could co-localize with the MTOC and mitotic spindle. CONCLUSIONS/SIGNIFICANCE: SBDS co-localizes with the mitotic spindle, suggesting a role for SBDS in the cell division process, which corresponds to the decreased proliferation capacity of SDS-patient bone marrow CD34(+) hematopoietic progenitor cells in our culture system and also to the neutropenia in SDS patients. A role in chromosome missegregation has not been clarified, since similar spatial and time-dependent localization is observed when patient-derived SBDS mutant proteins are studied. Thus, the increased risk of myeloid malignancy in SDS remains unexplained