Atypical immunologic response in a patient with CRIM-negative Pompe disease.
ABSTRACT We report the clinical course of a patient with severe infantile onset Pompe disease [cross-reactive immunologic material (CRIM) negative, R854X/R854X] who was diagnosed prenatally and received standard dosing of alglucosidase alfa (Myozyme®) enzyme replacement therapy (ERT) from day 10 of life until she passed away at the age of 3 years 9 months. In the immediate neonatal period there was cardiomegaly on chest X-ray, cardiac hypertrophy by echocardiogram, and development of a wide complex tachycardia. CRIM negative (CN) status was suspected based on her family history, and the available data at the time indicated that CN patients had limited survival even with ERT. However, given the opportunity for very early treatment, the treating provider and family elected to initiate treatment with ERT, without immune modulation. By 9 months of age echocardiogram was normal. Early motor development was within normal limits but by 2 years of age her developmental progress had slowed. She seroconverted by the 4th month of ERT, and anti-rhGAA antibody titers peaked at 25,600 in the 27th month. Immunomodulatory therapy was considered but declined by family. She acquired Influenza A at 2 years 6 months, which led to a prolonged hospitalization with invasive respiratory support, and placement of tracheostomy and gastrostomy tube. Her developmental progress ceased, and she died suddenly at home from a presumed cardiac event at age 3 years 9 months. The poor outcomes observed in CN patients have been attributed to the development of high sustained antibody titers. Although this CN patient's anti-rhGAA response was elevated and sustained, it is unlike any of the 3 patterns that have been previously described: high titer CN, high titer CRIM positive (HTCP), and low titer CP (LTCP) patients. This patient's clinical course, with achievement of 24 months of motor gains, 30 months of ventilator-free survival and 45 month survival, is like that of only a fraction of ERT treated CN patients, yet it is identical to other reported CN patients in its relentless progression and early fatality. The immunologic response (moderate sustained antibody titers) described here has not been previously reported and may have played a role in the overall pattern of developmental decline. In light of proposed universal newborn screening for Pompe disease, there is an urgent need for improved understanding of the interplay between immunologic responses to the only available treatment, ERT, and the relentless nature of this disease in CN patients.
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ABSTRACT: This paper takes a new look at the methods of embodiment for psychotherapy supervision. It makes a rigorous distinction between knowledge derived by language and knowledge derived by the body without the intervention of conscious thought.In an account of a study (Panhofer, 2010) whereby the principal researcher and her co-researchers, all professional practitioners of dance movement psychotherapy, shows the genesis and development of new tools designed to capture the connection between movement and the possibility of “languaging” the embodied experience (Sheets-Johnstone, 2007, p. 1). An unexpected outcome resulted in which the methodology developed for the study proved to be useful for clinical supervision. Of the several different models developed, one, a model for self-supervision, is presented here as a practical example of how to access the knowledge of the body when reflecting on practice day to day. In putting forward implications for practice, the authors suggest that the integration of movement and writing may be beneficial not only for clinical supervision in dance movement psychotherapy, but also for body psychotherapies, arts therapies, and for any verbal approaches of psychotherapy supervision that aim to integrate and explore the embodied experience.Research highlights► Knowledge can be achieved through the moving body and without the intervention of conscious thought. ► Not all of the embodied experience can or needs to be “languaged” – put into words. ► Movement and writing may be beneficial for clinical supervision in dance movement psychotherapy, as well as for body psychotherapies, arts therapies, and for other verbal approaches of psychotherapy supervision that aim to integrate the embodied experience.The Arts in Psychotherapy. 01/2011; 38(1):9-16.
- Arts in Psychotherapy - ART PSYCHOTHER. 01/2005; 32(4):293-301.
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ABSTRACT: This article reports upon a research study which explored the significance of art to people who use mental health services. A narrative approach to data collection was chosen as the most appropriate method of gaining in-depth stories regarding the significance of art to the person. This involved the implementation of arts based workshops and in-depth individual follow-up interviews. The study offers a contribution to the debate surrounding the most appropriate research methods for identifying the relationship between the arts and health. The findings give an indication of the unique and complex meaning attached to art. It is evident that creativity represents an integral aspect of the person's perception of themselves and that for many it is an essential component of the way they wish to live their life. The multiple benefits described by participants suggest the need for the development of creative resources within statutory mental health care, thus complementing medically based interventions. A research approach that is creative and consistent with empowering and inclusive practice has been employed in this study. Furthermore, greater attention in research methods to the often neglected area of people's stories is advocated. Historically, in mental health care, people have felt oppressed by statutory service providers. Narrative approaches in research enable the person to become centre-stage, and, as a parallel to creative expression, the person is given a voice.Perspectives in Public Health 03/2010; 130(2):70-7. · 1.09 Impact Factor