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P. James B. Dyck - One of the best experts on this subject based on the ideXlab platform.

  • adult polyglucosan body disease Case Description of an expanding genetic and clinical syndrome
    Muscle & Nerve, 2004
    Co-Authors: Christopher J. Klein, John E. Chapin, Norbert G. Campeau, Christopher J. Boes, Christopher Lynch, James P B Dyck, P. James B. Dyck
    Abstract:

    A non-Jewish patient is described who had adult polyglucosan body disease (APBD) and glycogen branching enzyme (GBE) deficiency without GBE mutation. A heterozygous polymorphism (Val160Ile) was found, and also discovered in 1 of 50 normal individuals. Magnetic resonance imaging demonstrated increased T2 signal in the midbrain, medullary olives, dentate nuclei, cerebellar peduncles, and internal and external capsules, with vermian atrophy. Both muscle and nerve biopsy revealed perivascular inflammatory infiltrates. These findings expand the clinical and genetic spectrum of APBD. Factors other than mutation of the expressed GBE gene may cause enzyme deficiency and varied expression and development of APBD.

  • Adult polyglucosan body disease: Case Description of an expanding genetic and clinical syndrome.
    Muscle & Nerve, 2003
    Co-Authors: Christopher J. Klein, John E. Chapin, Norbert G. Campeau, P. James B. Dyck, Christopher J. Boes, Christopher D Lynch
    Abstract:

    A non-Jewish patient is described who had adult polyglucosan body disease (APBD) and glycogen branching enzyme (GBE) deficiency without GBE mutation. A heterozygous polymorphism (Val160Ile) was found, and also discovered in 1 of 50 normal individuals. Magnetic resonance imaging demonstrated increased T2 signal in the midbrain, medullary olives, dentate nuclei, cerebellar peduncles, and internal and external capsules, with vermian atrophy. Both muscle and nerve biopsy revealed perivascular inflammatory infiltrates. These findings expand the clinical and genetic spectrum of APBD. Factors other than mutation of the expressed GBE gene may cause enzyme deficiency and varied expression and development of APBD. Muscle Nerve 29: 323-328, 2004

Kensley A Behel - One of the best experts on this subject based on the ideXlab platform.

  • a Case Description of speech disturbance and treatment following corrective surgery for stress velopharyngeal incompetence
    Clinical Linguistics & Phonetics, 2015
    Co-Authors: Toby Macrae, Julie A G Stierwalt, Kensley A Behel
    Abstract:

    AbstractThe purpose of this study was to determine the effectiveness of a motor learning guided (MLG) approach to speech treatment in a unique Case of speech disturbance following surgery for stress velopharyngeal incompetence (SVPI). The patient was a 20-year-old female college student. Treatment took place over 6 sessions and focused on eliciting productions through a hierarchy of clinician support, with an emphasis on self-evaluation and -correction. Acoustic measurements and ratings from the treating clinician and unfamiliar listeners revealed a speech disturbance following surgery that was corrected following speech treatment. The patient’s main difficulty appeared to be in producing the vocalic/postvocalic approximant, /r/, although vowel distortions were also noted. These difficulties may be explained by the structural alteration and formation of scar tissue as a result of surgery. The results provide initial support for an MLG approach to treating an acquired speech disturbance following SVPI surg...

  • A Case Description of speech disturbance and treatment following corrective surgery for stress velopharyngeal incompetence
    Clinical Linguistics & Phonetics, 2015
    Co-Authors: Toby Macrae, Julie A G Stierwalt, Kensley A Behel
    Abstract:

    The purpose of this study was to determine the effectiveness of a motor learning guided (MLG) approach to speech treatment in a unique Case of speech disturbance following surgery for stress velopharyngeal incompetence (SVPI). The patient was a 20-year-old female college student. Treatment took place over 6 sessions and focused on eliciting productions through a hierarchy of clinician support, with an emphasis on self-evaluation and -correction. Acoustic measurements and ratings from the treating clinician and unfamiliar listeners revealed a speech disturbance following surgery that was corrected following speech treatment. The patient's main difficulty appeared to be in producing the vocalic/postvocalic approximant, /r/, although vowel distortions were also noted. These difficulties may be explained by the structural alteration and formation of scar tissue as a result of surgery. The results provide initial support for an MLG approach to treating an acquired speech disturbance following SVPI surgery; however, additional research is warranted.

Christopher J. Klein - One of the best experts on this subject based on the ideXlab platform.

  • adult polyglucosan body disease Case Description of an expanding genetic and clinical syndrome
    Muscle & Nerve, 2004
    Co-Authors: Christopher J. Klein, John E. Chapin, Norbert G. Campeau, Christopher J. Boes, Christopher Lynch, James P B Dyck, P. James B. Dyck
    Abstract:

    A non-Jewish patient is described who had adult polyglucosan body disease (APBD) and glycogen branching enzyme (GBE) deficiency without GBE mutation. A heterozygous polymorphism (Val160Ile) was found, and also discovered in 1 of 50 normal individuals. Magnetic resonance imaging demonstrated increased T2 signal in the midbrain, medullary olives, dentate nuclei, cerebellar peduncles, and internal and external capsules, with vermian atrophy. Both muscle and nerve biopsy revealed perivascular inflammatory infiltrates. These findings expand the clinical and genetic spectrum of APBD. Factors other than mutation of the expressed GBE gene may cause enzyme deficiency and varied expression and development of APBD.

  • Adult polyglucosan body disease: Case Description of an expanding genetic and clinical syndrome.
    Muscle & Nerve, 2003
    Co-Authors: Christopher J. Klein, John E. Chapin, Norbert G. Campeau, P. James B. Dyck, Christopher J. Boes, Christopher D Lynch
    Abstract:

    A non-Jewish patient is described who had adult polyglucosan body disease (APBD) and glycogen branching enzyme (GBE) deficiency without GBE mutation. A heterozygous polymorphism (Val160Ile) was found, and also discovered in 1 of 50 normal individuals. Magnetic resonance imaging demonstrated increased T2 signal in the midbrain, medullary olives, dentate nuclei, cerebellar peduncles, and internal and external capsules, with vermian atrophy. Both muscle and nerve biopsy revealed perivascular inflammatory infiltrates. These findings expand the clinical and genetic spectrum of APBD. Factors other than mutation of the expressed GBE gene may cause enzyme deficiency and varied expression and development of APBD. Muscle Nerve 29: 323-328, 2004

Toby Macrae - One of the best experts on this subject based on the ideXlab platform.

  • a Case Description of speech disturbance and treatment following corrective surgery for stress velopharyngeal incompetence
    Clinical Linguistics & Phonetics, 2015
    Co-Authors: Toby Macrae, Julie A G Stierwalt, Kensley A Behel
    Abstract:

    AbstractThe purpose of this study was to determine the effectiveness of a motor learning guided (MLG) approach to speech treatment in a unique Case of speech disturbance following surgery for stress velopharyngeal incompetence (SVPI). The patient was a 20-year-old female college student. Treatment took place over 6 sessions and focused on eliciting productions through a hierarchy of clinician support, with an emphasis on self-evaluation and -correction. Acoustic measurements and ratings from the treating clinician and unfamiliar listeners revealed a speech disturbance following surgery that was corrected following speech treatment. The patient’s main difficulty appeared to be in producing the vocalic/postvocalic approximant, /r/, although vowel distortions were also noted. These difficulties may be explained by the structural alteration and formation of scar tissue as a result of surgery. The results provide initial support for an MLG approach to treating an acquired speech disturbance following SVPI surg...

  • A Case Description of speech disturbance and treatment following corrective surgery for stress velopharyngeal incompetence
    Clinical Linguistics & Phonetics, 2015
    Co-Authors: Toby Macrae, Julie A G Stierwalt, Kensley A Behel
    Abstract:

    The purpose of this study was to determine the effectiveness of a motor learning guided (MLG) approach to speech treatment in a unique Case of speech disturbance following surgery for stress velopharyngeal incompetence (SVPI). The patient was a 20-year-old female college student. Treatment took place over 6 sessions and focused on eliciting productions through a hierarchy of clinician support, with an emphasis on self-evaluation and -correction. Acoustic measurements and ratings from the treating clinician and unfamiliar listeners revealed a speech disturbance following surgery that was corrected following speech treatment. The patient's main difficulty appeared to be in producing the vocalic/postvocalic approximant, /r/, although vowel distortions were also noted. These difficulties may be explained by the structural alteration and formation of scar tissue as a result of surgery. The results provide initial support for an MLG approach to treating an acquired speech disturbance following SVPI surgery; however, additional research is warranted.

Edith R Lederman - One of the best experts on this subject based on the ideXlab platform.

  • progressive vaccinia Case Description and laboratory guided therapy with vaccinia immune globulin st 246 and cmx001
    The Journal of Infectious Diseases, 2012
    Co-Authors: Edith R Lederman, Whitni Davidson, Harold L Groff, Scott K Smith, Tyler Warkentien, Kimberly Wilkins, Kevin L Karem, Rama Akondy, Rafi Ahmed
    Abstract:

    Progressive vaccinia (PV) is a rare but potentially lethal complication that develops in smallpox vaccine recipients with severely impaired cellular immunity. We describe a patient with PV who required treatment with vaccinia immune globulin and who received 2 investigational agents, ST-246 and CMX001. We describe the various molecular, pharmacokinetic, and immunologic studies that provided guidance to escalate and then successfully discontinue therapy. Despite development of resistance to ST-246 during treatment, the patient had resolution of PV. This Case demonstrates the need for continued development of novel anti-orthopoxvirus pharmaceuticals and the importance of both intensive and timely clinical and laboratory support in management of PV.