Search results for: Brian S. Tseng

Items from 1 to 8 out of 8 results

article

Truncal fat distribution correlates with decreased vital capacity in Duchenne muscular dystrophy

Craig A. Canapari, Nick Barrowman, Lynda Hoey, Scott W. Walker, more

Pediatric Pulmonology > 50 > 1 > 63 - 70

BackgroundDuchenne muscular dystrophy (DMD) is an X‐linked recessive disorder associated with progressive muscle weakness and respiratory failure. Oral corticosteroids are the mainstay of treatment, but are associated with obesity with a central distribution. This study is designed to determine the relationship between body mass index, central adiposity, and lung function in subjects with DMD. MethodsRetrospective...

article

Lower leg muscle involvement in Duchenne muscular dystrophy: an MR imaging and spectroscopy study

Martin Torriani, Elise Townsend, Bijoy J. Thomas, Miriam A. Bredella, more

Skeletal Radiology > 2012 > 41 > 4 > 437-445

Objective To describe the involvement of lower leg muscles in boys with Duchenne muscular dystrophy (DMD) by using MR imaging (MRI) and spectroscopy (MRS) correlated to indices of functional status. Subjects and methods Nine boys with DMD (mean age, 11 years) and eight healthy age- and BMI-matched boys (mean age, 13 years) prospectively underwent lower leg MRI, 1H-MRS of tibialis anterior (TA) and...

article

Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy

A. Reghan Foley, Ying Hu, Yaqun Zou, Michele Yang, more

Annals of Neurology > 69 > 1 > 206 - 211

Two mutational mechanisms are known to underlie Ullrich congenital muscular dystrophy (UCMD): heterozygous dominant negatively‐acting mutations and recessively‐acting loss‐of‐function mutations. We describe large genomic deletions on chromosome 21q22.3 as a novel type of mutation underlying recessively inherited UCMD in 2 families. Clinically unaffected parents carrying large genomic deletions of...

article

An 18-year-old man with fenestrated vertebral arteries, recurrent stroke and successful angiographic coiling

Timothy J. Bernard, Brendan R. Mull, Michael H. Handler, Roger K. Harned, more

Journal of the Neurological Sciences > 2007 > 260 > 1-2 > 279-282

Fenestration of vertebral arteries has been reported in association with thromboembolic brain infarctions. However, few cases have been reported in which recurrent infarction occurred in spite of adequate anticoagulation. We report a young man with fenestrated vertebral arteries and stroke who failed to respond to standard anticoagulation therapy but did well with angiographic coil obliteration of...

article

Upregulation of the creatine synthetic pathway in skeletal muscles of mature mdx mice

Warren C. McClure, Rick E. Rabon, Hirofumi Ogawa, Brian S. Tseng

Neuromuscular Disorders > 2007 > 17 > 8 > 639-650

Duchenne muscular dystrophy (DMD) is a fatal neuromuscular human disease caused by dystrophin deficiency. The mdx mouse lacks dystrophin protein, yet does not exhibit the debilitating DMD phenotype. Investigating compensatory mechanisms in the mdx mouse may shed new insights into modifying DMD pathogenesis. This study targets two metabolic genes, guanidinoacetate methyltransferase (GAMT) and arginine:glycine...

article

Neuromyelitis Optica Immunoglobulin G in a Child

Lynsee A. Hudson, Timothy J. Bernard, Brian S. Tseng, Bradford R. Miller, more

Pediatric Neurology > 2006 > 35 > 5 > 370-372

Neuromyelitis optica or Devic’s syndrome is an uncommon demyelinating disorder that preferentially attacks the spinal cord and optic nerves. Although it is well described in adults, childhood neuromyelitis optica has rarely been reported in the literature and is frequently misdiagnosed as severe multiple sclerosis. Recently, a serum immunoglobulin G test for neuromyelitis optica has become available...

article

Human bHLH Transcription Factor GeneMyogenin(MYOG): Genomic Sequence and Negative Mutation Analysis in Patients with Severe Congenital Myopathies

Brian S. Tseng, Sash T. Cavin, Eric P. Hoffman, Susan T. Iannaccone, more

Genomics > 1999 > 57 > 3 > 419-423

Themyogeningene encodes an evolutionarily conserved basic helix-loop-helix transcription (bHLH) factor that is required for differentiation of skeletal muscle, and its homozygous deletion in mice results in perinatal death from respiratory failure due to the lack of muscle fibers. Since the histology of skeletal muscle inmyogeninnull mice is reminiscent of that found in severe congenital myopathy...

article

Cytoplasm-to-myonucleus ratios and succinate dehydrogenase activities in adult rat slow and fast muscle fibers

Brian S. Tseng, Christine E. Kasper, V. Reggie Edgerton

Cell and Tissue Research > 1994 > 275 > 1 > 39-49

Abstract. The relationship between myonuclear number, cellular size, succinate dehydrogenase activity, and myosin type was examined in single fiber segments (n = 54; 9 3 mm long) mechanically dissected from soleus and plantaris muscles of adult rats. One end of each fiber segment was stained for DNA before quantitative photometric analysis of succinate dehydrogenase activity; the other end was double...

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