Search

Your search keyword '"Mackenzie, William G."' showing total 500 results
Start Over Author "Mackenzie, William G."
500 results on '"Mackenzie, William G."'

16. International guidelines for the management and treatment of Morquio A syndrome

Author

Hendriksz, Christian J, Berger, Kenneth I, Giugliani, Roberto, Harmatz, Paul, Kampmann, Christoph, Mackenzie, William G, Raiman, Julian, Villarreal, Martha Solano, and Savarirayan, Ravi

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Clinical Research, Rare Diseases, Humans, Internationality, Mucopolysaccharidosis IV, Practice Guidelines as Topic, Radiography, mucopolysaccharidosis IV, guidelines, symptom assessment, diagnosis, disease management, Genetics, Clinical sciences
Abstract

Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems. The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients. Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists. The current paper presents international guidelines for the evaluation, treatment and symptom-based management of Morquio A syndrome. These guidelines were developed during two expert meetings by an international panel of specialists in pediatrics, genetics, orthopedics, pulmonology, cardiology, and anesthesia with extensive experience in managing Morquio A syndrome.

Published
2015

17. Gait Changes in Skeletal Dysplasia

Author

Mackenzie, William G., Abousamra, Oussama, Müller, Bertram, Editor-in-Chief, Wolf, Sebastian I., Editor-in-Chief, Brüggemann, Gert-Peter, Section Editor, Deng, Zhigang, Section Editor, McIntosh, Andrew S., Section Editor, Miller, Freeman, Section Editor, and Selbie, W. Scott, Section Editor

Published
2018
Full Text
View/download PDF

24. Orthopedic management of the extremities in patients with Morquio A syndrome

Author

White, Klane K, Jester, Andrea, Bache, C Edward, Harmatz, Paul R, Shediac, Renée, Thacker, Mihir M, and Mackenzie, William G

Subjects
Clinical Research, Rare Diseases, Morquio A, Mucopolysaccharidosis IVA, MPS IVA, Lower extremity, Upper extremity, Paediatrics and Reproductive Medicine, Orthopedics
Abstract

BackgroundMusculoskeletal involvement in Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA) contributes significantly to morbidity and mortality. While the spinal manifestations of the disorder have received considerable attention in the literature, there have been few reported studies to date to guide the management of the orthopedic problems associated with the lower and upper extremities.PurposeThe objective was to develop recommendations for the management of the extremities in patients with Morquio A syndrome.MethodsA group of specialists in orthopedics, pediatrics and genetics with experience in the management of Morquio A patients convened to review and discuss current clinical practices and to develop preliminary recommendations. Evidence from the literature was retrieved. Recommendations were further refined until consensus was reached.Results and conclusionsThis present article provides a detailed review and discussion of the lower and upper extremity deformities in Morquio A syndrome and presents recommendations for the assessment and treatment of these complications. Key issues, including the importance of early diagnosis and the implications of medical therapy, are also addressed. The recommendations herein represent an attempt to develop a uniform and practical approach to managing patients with Morquio A syndrome and improving their outcomes.

Published
2014

28. Spinal involvement in mucopolysaccharidosis IVA (Morquio‐Brailsford or Morquio A syndrome): presentation, diagnosis and management

Author

Solanki, Guirish A, Martin, Kenneth W, Theroux, Mary C, Lampe, Christina, White, Klane K, Shediac, Renée, Lampe, Christian G, Beck, Michael, Mackenzie, William G, Hendriksz, Christian J, and Harmatz, Paul R

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Intellectual and Developmental Disabilities (IDD), Neurosciences, Prevention, Biomedical Imaging, Brain Disorders, Mucopolysaccharidoses (MPS), Rare Diseases, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Constriction, Pathologic, Humans, Mucopolysaccharidosis IV, Spinal Cord Compression, Spine, Genetics & Heredity, Genetics, Clinical sciences
Abstract

Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed.

Published
2013

34. Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB

Author

Shimada, Tsutomu, Tomatsu, Shunji, Mason, Robert W., Yasuda, Eriko, Mackenzie, William G., Hossain, Jobayer, Shibata, Yuniko, Montaño, Adriana M., Kubaski, Francyne, Giugliani, Roberto, Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Kenji E., Fukao, Toshiyuki, Orii, Tadao, Zschocke, Johannes, Editor-in-chief, Baumgartner, Matthias, editor, Morava, Eva, editor, Patterson, Marc, editor, Rahman, Shamima, editor, and Peters, Verena, editor

Published
2015
Full Text
View/download PDF

35. Activity of daily living for Morquio A syndrome

Author

Yasuda, Eriko, Suzuki, Yasuyuki, Shimada, Tsutomu, Sawamoto, Kazuki, Mackenzie, William G., Theroux, Mary C., Pizarro, Christian, Xie, Li, Miller, Freeman, Rahman, Tariq, Kecskemethy, Heidi H., Nagao, Kyoko, Morlet, Thierry, Shaffer, Thomas H., Chinen, Yasutsugu, Yabe, Hiromasa, Tanaka, Akemi, Shintaku, Haruo, Orii, Kenji E., Orii, Koji O., Mason, Robert W., Montaño, Adriana M., Fukao, Toshiyuki, Orii, Tadao, and Tomatsu, Shunji

Published
2016
Full Text
View/download PDF

37. Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII

Author

Shimada, Tsutomu, Tomatsu, Shunji, Yasuda, Eriko, Mason, Robert W., Mackenzie, William G., Shibata, Yuniko, Kubaski, Francyne, Giugliani, Roberto, Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Kenji, Orii, Tadao, Zschocke, Johannes, Editor-in-chief, Gibson, K Michael, Editor-in-chief, Gibson, K. Michael, editor, Brown, Garry, editor, Morava, Eva, editor, and Peters, Verena, editor

Published
2014
Full Text
View/download PDF

39. Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure

Author

Kuiper, Gé-Ann, Langereis, Eveline J., Breyer, Sandra, Carbone, Marco, Castelein, René M., Eastwood, Deborah M., Garin, Christophe, Guffon, Nathalie, van Hasselt, Peter M., Hensman, Pauline, Jones, Simon A., Kenis, Vladimir, Kruyt, Moyo, van der Lee, Johanna H., Mackenzie, William G., Orchard, Paul J., Oxborrow, Neil, Parini, Rossella, Robinson, Amy, Schubert Hjalmarsson, Elke, White, Klane K., and Wijburg, Frits A.

Published
2019
Full Text
View/download PDF

44. Additional file 1 of Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

Author

Nahm, Nickolas J., Mackenzie, W. G. Stuart, Mackenzie, William G., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria Elena, Smid, Cory J., Hoover-Fong, Julie, and Bober, Michael B.

Abstract

Additional file 1: Figure S1. Kaplan Meier curve for spine procedures performed by center. Spine surgeries happened later in life in three of four centers that treat adult patients. No patients older than 35 years of age received surgery at duPont.

Published
2023
Full Text
View/download PDF

45. Additional file 2 of Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

Author

Nahm, Nickolas J., Mackenzie, W. G. Stuart, Mackenzie, William G., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria Elena, Smid, Cory J., Hoover-Fong, Julie, and Bober, Michael B.

Abstract

Additional file 2: Figure S2. Kaplan Meier curve for lower extremity procedures performed by center. Most lower extremity procedures were performed before the age of 20 years old at each center. A second cluster of lower extremity procedures was performed in older patients at two centers.

Published
2023
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results