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D. E. Porter - One of the best experts on this subject based on the ideXlab platform.

  • CANCER RISK IN Hereditary Multiple Exostoses MAY BE INCREASED IN CARRIERS OF EXT1 MUTATION.
    2020
    Co-Authors: D. E. Porter, M. Fraser, Carol Dobson-stone, A.m. Monaco, Ahrw Simpson
    Abstract:

    To identify if disease severity and cancer-risk might depend on genotype in Hereditary Multiple Exostoses (HME). The discovery that the EXT family of tumour suppressor genes is responsible for Hereditary Multiple Exostoses (HME) now enables correlation of clinical features with genetic defects. Genetic epidemiological studies, such as this, may provide additional data of use to the clinician. In most population-based HME cohorts, the incidence of sarcomatous degeneration has been estimated as 1–5%. This is not high, but occurs at a younger age (on average 2–3 decades younger) than chondrosarcoma in the general population. Genetic stratification might allow a very high-risk subgroup to be identified, within which surveillance for neoplastic change in osteochondromas could be concentrated. In a pilot study, 29 affected individuals from 17 families with HME were screened for EXT mutation, with mutations identified in 12 families. Pedigrees were obtained and a complete assessment of disease severity made. We have since expanded this cohort; a further 71 affected individuals from 34 families with HME have provided detailed pedigree data and undergone a simple clinical examination to assess number of palpable osteo-chondromas. EXT mutation was assessed by means of fluorescent single-strand conformational polymorphism (f-SSCP) screening, followed by sequencing analysis. 1. Validation of clinical examination : In those who underwent radiographic examination for clinical purposes, number of palpable osteochondromas correlated strongly with number seen on radiographs at 146 anatomical sites (r= 0.814, p

  • Hereditary Multiple Exostoses: anatomical distribution and burden of Exostoses is dependent upon genotype and gender.
    Scottish Medical Journal, 2014
    Co-Authors: N. D. Clement, D. E. Porter
    Abstract:

    Background and aimsWe describe the novel anatomical distribution of Exostoses in patients with Hereditary Multiple Exostoses according to their gender and genotype.Methods and resultsA prospective database of 143 patients from 65 families with Hereditary Multiple Exostoses was compiled. Patient demographics, genotype and number of Exostoses according to anatomical site were recorded. The hand was affected by the greatest proportion of Exostoses for both EXT1 (19%) and EXT2 (14%) genotypes and was the most prevalent site for Exostoses in patients with an EXT1 genotype (92%). Patients with an EXT1 genotype had a significantly greater number of Exostoses compared to those with an EXT2 genotype (2680 vs. 1828, p = 0.006); however, this was only significantly different for 10 of the 19 anatomical regions examined. Male patients with an EXT1 genotype had a significantly (p 

  • Hereditary Multiple Exostoses anatomical distribution and burden of Exostoses is dependent upon genotype and gender
    Scottish Medical Journal, 2014
    Co-Authors: N. D. Clement, D. E. Porter
    Abstract:

    Background and aimsWe describe the novel anatomical distribution of Exostoses in patients with Hereditary Multiple Exostoses according to their gender and genotype.Methods and resultsA prospective database of 143 patients from 65 families with Hereditary Multiple Exostoses was compiled. Patient demographics, genotype and number of Exostoses according to anatomical site were recorded. The hand was affected by the greatest proportion of Exostoses for both EXT1 (19%) and EXT2 (14%) genotypes and was the most prevalent site for Exostoses in patients with an EXT1 genotype (92%). Patients with an EXT1 genotype had a significantly greater number of Exostoses compared to those with an EXT2 genotype (2680 vs. 1828, p = 0.006); however, this was only significantly different for 10 of the 19 anatomical regions examined. Male patients with an EXT1 genotype had a significantly (p < 0.05) greater number of Exostoses affecting their hands, distal radius, proximal humerus, scapular and ribs compared to female patients wi...

  • Skeletal growth patterns in Hereditary Multiple Exostoses: a natural history.
    Journal of Pediatric Orthopaedics B, 2012
    Co-Authors: N. D. Clement, Andrew D. Duckworth, Alexander D L Baker, D. E. Porter
    Abstract:

    Hereditary Multiple Exostoses (HME) is a commonly inherited musculoskeletal condition and is associated with a diminished stature. We demonstrated that adults with HME were significantly shorter when compared with a control group (P

  • skeletal growth patterns in Hereditary Multiple Exostoses a natural history
    Journal of Pediatric Orthopaedics B, 2012
    Co-Authors: N. D. Clement, Andrew D. Duckworth, Alexander D L Baker, D. E. Porter
    Abstract:

    : Hereditary Multiple Exostoses (HME) is a commonly inherited musculoskeletal condition and is associated with a diminished stature. We demonstrated that adults with HME were significantly shorter when compared with a control group (P<0.001); preadolescents, however, were significantly taller than predicted (P=0.01). This was reflected by their height centile; 58% of the adults were under the 25th centile, whereas 53% of the preadolescence group were above the 75th centile. Stature was more severely affected in patients with an EXT1 mutation (P=0.008). This study illustrates a novel age-related growth pattern associated with HME, which is also affected by genotype.

William C Torreggiani - One of the best experts on this subject based on the ideXlab platform.

  • PICTORIAL REVIEW Multimodality imaging features of Hereditary Multiple Exostoses
    2020
    Co-Authors: L Fitzgerald, N Campbell, Iain D Lyburn, Peter L Munk, O Buckley, William C Torreggiani
    Abstract:

    Hereditary Multiple Exostoses (HME) or diaphyseal aclasis is an inherited disorder characterised by the formation of Multiple osteochondromas, which are cartilage-capped osseous outgrowths, and the development of associated osseous deformities. Individuals with HME may be asymptomatic or develop clinical symptoms, which prompt imaging studies. Different modalities ranging from plain radiographs to cross-sectional and nuclear medicine imaging studies can be helpful in the diagnosis and detection of complications in HME, including chondrosarcomatous transformation. We review the role and imaging features of these different modalities in HME.

  • multimodality imaging features of Hereditary Multiple Exostoses
    British Journal of Radiology, 2013
    Co-Authors: L Fitzgerald, N Campbell, Iain D Lyburn, Peter L Munk, O Buckley, William C Torreggiani
    Abstract:

    Hereditary Multiple Exostoses (HME) or diaphyseal aclasis is an inherited disorder characterised by the formation of Multiple osteochondromas, which are cartilage-capped osseous outgrowths, and the development of associated osseous deformities. Individuals with HME may be asymptomatic or develop clinical symptoms, which prompt imaging studies. Different modalities ranging from plain radiographs to cross-sectional and nuclear medicine imaging studies can be helpful in the diagnosis and detection of complications in HME, including chondrosarcomatous transformation. We review the role and imaging features of these different modalities in HME.

L Fitzgerald - One of the best experts on this subject based on the ideXlab platform.

  • PICTORIAL REVIEW Multimodality imaging features of Hereditary Multiple Exostoses
    2020
    Co-Authors: L Fitzgerald, N Campbell, Iain D Lyburn, Peter L Munk, O Buckley, William C Torreggiani
    Abstract:

    Hereditary Multiple Exostoses (HME) or diaphyseal aclasis is an inherited disorder characterised by the formation of Multiple osteochondromas, which are cartilage-capped osseous outgrowths, and the development of associated osseous deformities. Individuals with HME may be asymptomatic or develop clinical symptoms, which prompt imaging studies. Different modalities ranging from plain radiographs to cross-sectional and nuclear medicine imaging studies can be helpful in the diagnosis and detection of complications in HME, including chondrosarcomatous transformation. We review the role and imaging features of these different modalities in HME.

  • multimodality imaging features of Hereditary Multiple Exostoses
    British Journal of Radiology, 2013
    Co-Authors: L Fitzgerald, N Campbell, Iain D Lyburn, Peter L Munk, O Buckley, William C Torreggiani
    Abstract:

    Hereditary Multiple Exostoses (HME) or diaphyseal aclasis is an inherited disorder characterised by the formation of Multiple osteochondromas, which are cartilage-capped osseous outgrowths, and the development of associated osseous deformities. Individuals with HME may be asymptomatic or develop clinical symptoms, which prompt imaging studies. Different modalities ranging from plain radiographs to cross-sectional and nuclear medicine imaging studies can be helpful in the diagnosis and detection of complications in HME, including chondrosarcomatous transformation. We review the role and imaging features of these different modalities in HME.

Mariko Y Momoi - One of the best experts on this subject based on the ideXlab platform.

  • association of autism in two patients with Hereditary Multiple Exostoses caused by novel deletion mutations of ext1
    Journal of Human Genetics, 2002
    Co-Authors: Hong Li, Masato Mori, Takanori Yamagata, Mariko Y Momoi
    Abstract:

    Two boys from separate families presented with Hereditary Multiple Exostoses (EXT) and autism associated with mental retardation. Their fathers both expressed a clinical phenotype of Hereditary Multiple Exostoses milder than those of the patients and without the associated mental disorder. The EXT1 and EXT2 genes from lymphocytes of the affected individuals were analyzed by using denaturing high-performance liquid chromatography and direct sequencing. A novel deletion mutation, 1742delTGT-G in exon 9 of EXT1, causing a frameshift was detected in one boy and his father. Another novel deletion mutation, 2093delTT in exon 11 of EXT1, causing transcription termination was detected in the other affected boy and his father. EXT1 is expressed in the brain, and both EXT1 and EXT2 proteins are associated with glycosyltransferase activities required for the biosynthesis of heparan sulfate, which also has activity in the brain. The coincidental association of mental disorders in the boys was not completely excluded. However, these results suggest the involvement of EXT1 in the development of mental disorders, including mental retardation and autism.

Daniel R Benson - One of the best experts on this subject based on the ideXlab platform.

  • thoracic vertebral body exostosis as a cause of myelopathy in a patient with Hereditary Multiple Exostoses
    Journal of Spinal Disorders & Techniques, 2002
    Co-Authors: Matthew J Mermer, Munish C Gupta, Peter B Salamon, Daniel R Benson
    Abstract:

    The posterior thoracic vertebral body appears to be a novel origin for an exostosis causing myelopathy. A patient with Hereditary Multiple Exostoses and myelopathy caused by an exostosis originating from the posterior aspect of the T5 vertebral body was treated with a staged anterior decompression/corpectomy and posterior spinal fusion. The patient had near-complete resolution of his myelopathy immediately after undergoing removal of the exostosis through a right-sided lateral thoracotomy approach. This was a unique origin for an exostosis causing spinal cord compression in a patient with Hereditary Multiple Exostoses. The delivery of the exostosis was performed en bloc during the anterior decompression and corpectomy portion of the surgery. This resulted in the expected favorable outcome.