217 research outputs found

    Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

    Full text link
    CHARGE syndrome [coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities (including deafness)] is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 ( CHD7 ) are the major cause of CHARGE syndrome. Here, we review the clinical features of 379 CHARGE patients who tested positive or negative for mutations in CHD7 . We found that CHARGE individuals with CHD7 mutations more commonly have ocular colobomas, temporal bone anomalies (semicircular canal hypoplasia/dysplasia), and facial nerve paralysis compared with mutation negative individuals. We also highlight recent genetic and genomic studies that have provided functional insights into CHD7 and the pathogenesis of CHARGE syndrome. © 2010 Wiley-Liss, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/65049/1/33323_ftp.pd

    Exercise is medicine in oncology: Engaging clinicians to help patients move through cancer

    Get PDF
    A compelling evidence base supports exercise as a safe, effective intervention to improve many cancer related health outcomes among cancer patients and survivors. Oncology clinicians play a key role in encouraging their patients to move more. Therefore, the oncology clinical care team is urged to do the following at regular intervals: ASSESS exercise levels, ADVISE patients to become more active, and REFER patients to specific exercise programming. It is recommended that a process be developed to incorporate these steps into the standard care of oncology patients. A simple, straightforward approach is recommended to discern whether patients should be referred to outpatient rehabilitation versus community based exercise programming. The exponential growth of exercise oncology research has driven the need for revised cancer exercise guidelines and a roadmap for oncology clinicians to follow to improve physical and psychological outcomes from cancer diagnosis and for the balance of life. This paper serves as a call to action and details pathways for exercise programming (clinical, community and self-directed) tailored to the different levels of support and intervention needed by a given cancer patient or survivor. Preserving activity and functional ability is integral to cancer care and oncology clinicians are key to providing these referrals

    Currículum, saberes y prácticas ¿Qué dicen algunos medios masivos? ¿Hacia dónde y cómo puede evolucionar el tema en los próximos 10 años? ‒ De cómo la futuridad supera la prospectiva

    Get PDF
    Fil: Nakayama, Lilia. Universidad Católica de Córdoba. Facultad de Educación; Argentina.Fil: Calneggia, María Isabel. Universidad Católica de Córdoba. Facultad de Educación; ArgentinaFil: Di Francesco, Adriana Carlota. Universidad Católica de Córdoba. Facultad de Educación; ArgentinaFil: Cignoli, María de los Ángeles. Universidad Católica de Córdoba. Facultad de Educación; Argentin

    Estudios de prospectiva en educación. Currículum, saberes y prácticas ¿Hacia dónde y cómo puede evolucionar el tema en los próximos 10 años?

    Get PDF
    Fil: Ferreyra, Horacio Ademar. Universidad Católica de Córdoba. Facultad de Educación; ArgentinaFil: Di Francesco, Adriana Carlota. Universidad Católica de Córdoba. Facultad de Educación; ArgentinaFil: Tenutto, Marta Alicia. Universidad Católica de Córdoba. Facultad de Educación; Argentin

    International Legal Protection for Victims of Environmental Abuse

    No full text
    Environmental disasters are increasing. They often result from human activities, such as the disposal of toxic chemicals, the generation of power, and the exploitation of oil. Mismanagement of natural resources has caused severe watershed erosion, desertification, and atmospheric pollution, which, in turn, have seriously impaired human life. Although the human suffering associated with environmental destruction is growing, international and regional human rights organizations and institutions have yet to clarify the obligation of governments to protect and provide remedies for these victims. This paper seeks to inspire such clarification and suggests legal and institutional reforms toward that end
    corecore