NIEHS News October 2003

نویسنده

  • J Medlin
چکیده

Background: Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, adult onset, non-inflammatory neuromuscular disorder with no effective treatment. The causative gene, GNE, codes for UDP-N-acetylglucosamine 2epimerase/N-acetylmannosamine kinase, which catalyzes the first two reactions in the synthesis of sialic acid. Reduced sialylation of muscle glycoproteins, such as α-dystroglycan and neural cell adhesion molecule (NCAM), has been reported in HIBM. Methods: We treated 4 HIBM patients with intravenous immune globulin (IVIG), in order to provide sialic acid, because IgG contains 8 μmol of sialic acid/g. IVIG was infused as a loading dose of 1 g/kg on two consecutive days followed by 3 doses of 400 mg/kg at weekly intervals. Results: For all four patients, mean quadriceps strength improved from 19.0 kg at baseline to 23.2 kg (+22%) directly after IVIG loading to 25.6 kg (+35%) at the end of the study. Mean shoulder strength improved from 4.1 kg at baseline to 5.9 kg (+44%) directly after IVIG loading to 6.0 kg (+46%) at the end of the study. The composite improvement for 8 other muscle groups was 5% after the initial loading and 19% by the end of the study. Esophageal motility and lingual strength improved in the patients with abnormal barium swallows. Objective measures of functional improvement gave variable results, but the patients experienced improvements in daily activities that they considered clinically significant. Immunohistochemical staining and immunoblotting of muscle biopsies for α-dystroglycan and NCAM did not provide consistent evidence for increased sialylation after IVIG treatment. Side effects were limited to transient headaches and vomiting. Conclusion: The mild benefits in muscle strength experienced by HIBM patients after IVIG treatment may be related to the provision of sialic acid supplied by IVIG. Other sources of sialic acid are being explored as treatment options for HIBM. Published: 29 January 2007 BMC Neurology 2007, 7:3 doi:10.1186/1471-2377-7-3 Received: 12 September 2006 Accepted: 29 January 2007 This article is available from: http://www.biomedcentral.com/1471-2377/7/3 © 2007 Sparks et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Iterative Design of Metadata Creation Tools for Resource Authors

The National Institute of Environmental Heath Sciences (NIEHS), as part of the Metadata Generation Research Project, is exploring resource authors' abilities for creating acceptable metadata. As part of this work, two different versions of the NIEHS Dublin Core-based metadata generation tool have been tested. An iterative design approach, supported by cognitive walkthroughs, guided the design o...

متن کامل

Editorial Independence for EHP

Over the years, Environmental Health Perspectives (EHP) has emerged as one of the leading journals in the environmental health sciences. It can be argued that one reason for EHP's standing in the field of environmental health is its credibility as an unbiased source of news and research. With the National Institute of Environmental Health Sciences (NIEHS)—the journal's parent agency—under new d...

متن کامل

Building Research Capacity in Developing Nations

Environmental Health Perspectives • VOLUME 114 | NUMBER 10 | October 2006 A 603 The NIEHS Strategic Plan for 2006–2011, New Frontiers in Environmental Sciences and Human Health, lays out a vision for establishing a global effort in the environmental health sciences. A central component of that vision is the establishment of enhanced research capacity in developing nations and cooperation betwee...

متن کامل

The response of individual FX dealers ’ quoting activity to macroeconomic news announcements ∗

This paper analyses the effect of nine categories of news announcements on the quoting activity of individual FX dealers on the Euro/Dollar exchange rate from May to October 2001. We use the Double Autoregressive Conditional Poisson model (DACP), which is designed for time series of count data, which can be both underor overdispersed. We find that dealers’ quoting activity reacts differently to...

متن کامل

NIEHS News August 2003

Background: Coronary artery bypass grafting ranks as one of the most frequent operations worldwide. The presence of carotid artery stenosis may increase the stroke rate in the perioperative period. Routine preoperative noninvasive assessment of the carotid arteries are recommended in many institutions to reduce the stroke rate. Methods: 271 consecutive patients undergoing coronary artery bypass...

متن کامل

Fernando de Castro Development Pathfinding and Cell Migration During CNS Chemotropic Molecules : Guides for Axonal

Int. Union Physiol. Sci./Am.Physiol. Soc.. ESSN: 1548-9221. Visit our website at http://www.the-aps.org/. December by the American Physiological Society, 9650 Rockville Pike, Bethesda MD 20814-3991. © 2003 physiological developments. It is published bimonthly in February, April, June, August, October, and (formerly published as News in Physiological Science) publishes brief review articles on m...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:
  • Environmental Health Perspectives

دوره 111  شماره 

صفحات  -

تاریخ انتشار 2003