Abstract

This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.The nondystrophic myotonias (NDM) are a very rare group of muscle disorders caused by abnormalities in different muscle cell membrane proteins. Patients experience impaired muscle relaxation that causes impaired physical activity, pain and weakness. There are no proven therapies for NDM as yet. This study will be a longitudinal analysis wherein data will be collected from NDM patients and this will include clinical symptoms, exam findings, as well as the results of strength, functional and electrophysiological testing. Genetic testing will also be done that will permit precise identification of individual NDM subtypes. This information will allow for the identification and implementation of appropriate endpoints in future studies of potential treatments.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000633-35
Application #
7606348
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2007-04-01
Project End
2007-09-16
Budget Start
2007-04-01
Budget End
2007-09-16
Support Year
35
Fiscal Year
2007
Total Cost
$205
Indirect Cost

  Institution

Name
University of Texas Sw Medical Center Dallas
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
800771545
City
Dallas
State
TX
Country
United States
Zip Code
75390

  Publications

Gregg, L Parker; Tio, Maria Clarissa; Li, Xilong et al. (2018) Association of Monocyte Chemoattractant Protein-1 with Death and Atherosclerotic Events in Chronic Kidney Disease. Am J Nephrol 47:395-405
Askie, Lisa M; Darlow, Brian A; Finer, Neil et al. (2018) Association Between Oxygen Saturation Targeting and Death or Disability in Extremely Preterm Infants in the Neonatal Oxygenation Prospective Meta-analysis Collaboration. JAMA 319:2190-2201
Srinivasan, Lakshmi; Page, Grier; Kirpalani, Haresh et al. (2017) Genome-wide association study of sepsis in extremely premature infants. Arch Dis Child Fetal Neonatal Ed 102:F439-F445
Denson, Lee A; McDonald, Scott A; Das, Abhik et al. (2017) Early Elevation in Interleukin-6 is Associated with Reduced Growth in Extremely Low Birth Weight Infants. Am J Perinatol 34:240-247
James, Jennifer; Munson, David; DeMauro, Sara B et al. (2017) Outcomes of Preterm Infants following Discussions about Withdrawal or Withholding of Life Support. J Pediatr 190:118-123.e4
Younge, Noelle; Goldstein, Ricki F; Bann, Carla M et al. (2017) Survival and Neurodevelopmental Outcomes among Periviable Infants. N Engl J Med 376:617-628
Sakhaee, Khashayar; Poindexter, John; Aguirre, Crystal (2016) The effects of bariatric surgery on bone and nephrolithiasis. Bone 84:1-8
Phelps, Dale L; Ward, Robert M; Williams, Rick L et al. (2016) Safety and pharmacokinetics of multiple dose myo-inositol in preterm infants. Pediatr Res 80:209-17
Archer, Stephanie Wilson; Carlo, Waldemar A; Truog, William E et al. (2016) Improving publication rates in a collaborative clinical trials research network. Semin Perinatol 40:410-417
Foglia, Elizabeth E; Nolen, Tracy L; DeMauro, Sara B et al. (2015) Short-term Outcomes of Infants Enrolled in Randomized Clinical Trials vs Those Eligible but Not Enrolled. JAMA 313:2377-9

Showing the most recent 10 out of 693 publications