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Samuel C M Huang - One of the best experts on this subject based on the ideXlab platform.
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Alport syndrome with recurrent herpes simplex virus keratitis.
Cornea, 2007Co-Authors: Pei-chen Chung, Hu-shien Song, Wan-chen Ku, Samuel C M HuangAbstract:To report a case of Alport syndrome with recurrent herpes simplex virus (HSV) keratitis. Case report and review of the literature. A 29-year-old man with Alport syndrome suffered from 4 consecutive episodes of HSV keratitis within 2 years. A type IV Collagen Defect in basement membranes plays an important role in the pathogenesis of Alport syndrome. The relationship between HSV keratitis and Alport syndrome is discussed. After remission from HSV keratitis, the patient underwent bilateral phacoemulsification and posterior-chamber intraocular lens implantation for anterior lenticonus and an anterior polar cataract. After surgery, the uncorrected visual acuity was 20/20 in both eyes. We assume that the underlying basement membrane Defects in Alport syndrome may account for the recurrent episodes of HSV keratitis in this patient. In addition, phacoemulsification and posterior-chamber intraocular lens implantation, rather than correction of refractive errors, provide a safe and efficient therapeutic choice for the management of anterior lenticonus, with or without associated cataract in patients with Alport syndrome.
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Alport syndrome with recurrent herpes simplex virus keratitis.
Cornea, 2007Co-Authors: Pei-chen Chung, Hu-shien Song, Samuel C M Huang, Ken-kuo Lin, Chi-chin SunAbstract:PURPOSE To report a case of Alport syndrome with recurrent herpes simplex virus (HSV) keratitis. METHODS Case report and review of the literature. RESULTS A 29-year-old man with Alport syndrome suffered from 4 consecutive episodes of HSV keratitis within 2 years. A type IV Collagen Defect in basement membranes plays an important role in the pathogenesis of Alport syndrome. The relationship between HSV keratitis and Alport syndrome is discussed. After remission from HSV keratitis, the patient underwent bilateral phacoemulsification and posterior-chamber intraocular lens implantation for anterior lenticonus and an anterior polar cataract. After surgery, the uncorrected visual acuity was 20/20 in both eyes. CONCLUSIONS We assume that the underlying basement membrane Defects in Alport syndrome may account for the recurrent episodes of HSV keratitis in this patient. In addition, phacoemulsification and posterior-chamber intraocular lens implantation, rather than correction of refractive errors, provide a safe and efficient therapeutic choice for the management of anterior lenticonus, with or without associated cataract in patients with Alport syndrome.
Pei-chen Chung - One of the best experts on this subject based on the ideXlab platform.
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Alport syndrome with recurrent herpes simplex virus keratitis.
Cornea, 2007Co-Authors: Pei-chen Chung, Hu-shien Song, Wan-chen Ku, Samuel C M HuangAbstract:To report a case of Alport syndrome with recurrent herpes simplex virus (HSV) keratitis. Case report and review of the literature. A 29-year-old man with Alport syndrome suffered from 4 consecutive episodes of HSV keratitis within 2 years. A type IV Collagen Defect in basement membranes plays an important role in the pathogenesis of Alport syndrome. The relationship between HSV keratitis and Alport syndrome is discussed. After remission from HSV keratitis, the patient underwent bilateral phacoemulsification and posterior-chamber intraocular lens implantation for anterior lenticonus and an anterior polar cataract. After surgery, the uncorrected visual acuity was 20/20 in both eyes. We assume that the underlying basement membrane Defects in Alport syndrome may account for the recurrent episodes of HSV keratitis in this patient. In addition, phacoemulsification and posterior-chamber intraocular lens implantation, rather than correction of refractive errors, provide a safe and efficient therapeutic choice for the management of anterior lenticonus, with or without associated cataract in patients with Alport syndrome.
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Alport syndrome with recurrent herpes simplex virus keratitis.
Cornea, 2007Co-Authors: Pei-chen Chung, Hu-shien Song, Samuel C M Huang, Ken-kuo Lin, Chi-chin SunAbstract:PURPOSE To report a case of Alport syndrome with recurrent herpes simplex virus (HSV) keratitis. METHODS Case report and review of the literature. RESULTS A 29-year-old man with Alport syndrome suffered from 4 consecutive episodes of HSV keratitis within 2 years. A type IV Collagen Defect in basement membranes plays an important role in the pathogenesis of Alport syndrome. The relationship between HSV keratitis and Alport syndrome is discussed. After remission from HSV keratitis, the patient underwent bilateral phacoemulsification and posterior-chamber intraocular lens implantation for anterior lenticonus and an anterior polar cataract. After surgery, the uncorrected visual acuity was 20/20 in both eyes. CONCLUSIONS We assume that the underlying basement membrane Defects in Alport syndrome may account for the recurrent episodes of HSV keratitis in this patient. In addition, phacoemulsification and posterior-chamber intraocular lens implantation, rather than correction of refractive errors, provide a safe and efficient therapeutic choice for the management of anterior lenticonus, with or without associated cataract in patients with Alport syndrome.
Allan M Lund - One of the best experts on this subject based on the ideXlab platform.
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2017Co-Authors: Allan M Lund, Jorn Muller, Flemming SkovbyAbstract:Standing height, sitting height, armspan, subischial leg length, head circumference, and growth hormone‐insulin-like growth factor I (IGF-I) axis were determined in 86 patients with osteogenesis imperfecta. The aim of this study was to determine standing height and body proportions and their variability among osteogenesis imperfecta types and Collagen Defects. Mean standing height was reduced in all groups of patients, to the greatest extent and variability in osteogenesis imperfecta type III/IV and in those with qualitative Collagen Defects. The mean standing height of patients with osteogenesis imperfecta was lower than that of their unaVected first degree family members. Truncal height of patients with osteogenesis imperfecta was reduced; head size was increased, and this was more pronounced in patients with osteogenesis imperfecta type III/IV and qualitative Collagen Defects than in patients with osteogenesis imperfecta type I and quantitative Collagen Defects. Mean concentrations of IGF-I and IGF binding protein 3 (IGFBP-3) were low, but most values were within age specific reference values. The reduction of standing height appears to correlate with osteogenesis imperfecta type and the type of Collagen Defect. A relatively short trunk is typical and head circumference and body length are disproportionate. (Arch Dis Child 1999;80:524‐528)
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Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I Collagen mutations.
American journal of medical genetics. Part A, 2013Co-Authors: Anthony M Vandersteen, Allan M Lund, David J P Ferguson, Philip Sawle, Rebecca C Pollitt, Susan E Holder, Emma Wakeling, Neil Moat, F Michael PopeAbstract:Osteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures from infancy. We present four examples of OI type I complicated by valvular heart disease and associated with tissue fragility. The diagnosis of a type I Collagen disorder was confirmed by abnormal COL1A1 or COL1A2 gene sequencing. One patient was investigated with electrophoresis of Collagens from cultured skin fibroblasts, showing structurally abnormal Collagen type I, skin biopsy showed unusual histology and abnormal Collagen fibril ultra-structure at electron microscopy. The combined clinical, surgical, histological, ultra-structural, and molecular genetic data suggest the type I Collagen Defect as contributory to cardiac valvular disease. The degree of tissue fragility experienced at cardiac surgery in these individuals, also reported in a small number of similar case reports, suggests that patients with OI type I need careful pre-operative assessment and consideration of the risks and benefits of cardiac surgery.
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Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I Collagen mutations.
American Journal of Medical Genetics Part A, 2013Co-Authors: Anthony M Vandersteen, Allan M Lund, David J P Ferguson, Philip Sawle, Rebecca C Pollitt, Susan E Holder, Emma Wakeling, Neil Moat, F Michael PopeAbstract:Osteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures from infancy. We present four examples of OI type I complicated by valvular heart disease and associated with tissue fragility. The diagnosis of a type I Collagen disorder was confirmed by abnormal COL1A1 or COL1A2 gene sequencing. One patient was investigated with electrophoresis of Collagens from cultured skin fibroblasts, showing structurally abnormal Collagen type I, skin biopsy showed unusual histology and abnormal Collagen fibril ultra-structure at electron microscopy. The combined clinical, surgical, histological, ultra-structural, and molecular genetic data suggest the type I Collagen Defect as contributory to cardiac valvular disease. The degree of tissue fragility experienced at cardiac surgery in these individuals, also reported in a small number of similar case reports, suggests that patients with OI type I need careful pre-operative assessment and consideration of the risks and benefits of cardiac surgery. © 2013 Wiley Periodicals, Inc.
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Bone mineral content and Collagen Defects in osteogenesis imperfecta
Acta paediatrica (Oslo Norway : 1992), 2007Co-Authors: Allan M Lund, Jorn Muller, Christian Mølgaard, Flemming SkovbyAbstract:Whole-body and spine dual-energy X-ray absorptiometry was done in 63 patients with osteogenesis imperfecta aged 5 to 63 y, and the results were compared with OI types and Collagen Defects. Bone mineral content (BMC)-for-age, bone area (BA)-for-age, bone mineral density (BMD)-for-age, and BMC-for-BA were reduced, especially in patients with OI III/IV and/or in those with a qualitative Collagen Defect. BA-for-height was normal. Some patients with OI I and/or a quantitative Collagen Defect had BMD at or above -2 z-scores. We conclude (i) that both BMC and BMD differ significantly between OI types and Collagen Defects, (ii) that reduced BMC-for-age in OI patients is due mainly to reduced height ("short bones") and reduced BMC-for-BA ("light bones"), whereas BA-for-height ("bone width") is normal, (iii) that most OI patients have lower than average BMC, but in some mildly affected patients brittleness may exist with only small reductions in BMC.
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Collagen-derived markers of bone metabolism in osteogenesis imperfecta.
Acta paediatrica (Oslo Norway : 1992), 2007Co-Authors: Allan M Lund, M Hansen, G. Kollerup, Anders Juul, B Teisner, Flemming SkovbyAbstract:Markers of bone formation [C-terminal and N-terminal propeptides of proCollagen I (PICP, PINP), osteocalcin and alkaline phosphatase] and bone resorption [C-terminal cross-linked telopeptide of Collagen I (ICTP) and hydroxypyridinium cross-links, pyridinoline (Pyr) and deoxypyridinoline (Dpyr)] were measured in 78 osteogenesis imperfecta (OI) patients to investigate bone metabolism in vivo and relate marker concentrations to phenotype and in vitro Collagen I Defects, as shown by sodium dodecyl sulphate -polyacrylamide gel electrophoresis (SDS-PAGE). PICP and PINP were generally low, and the serum levels were lower in all children and adults with mild OI and a quantitative Collagen Defect than in patients with severe OI and a qualitative Collagen I Defect. ICTP, Pyr and Dpyr were generally normal or reduced, but elevated in severely affected adults with a qualitative Collagen I Defect. The in vivo findings correlated with in vitro results of Collagen I SDS-PAGE. Bone turnover is reduced in OI children and mildly affected OI adults, whereas bone resorption is elevated in severely affected adults. These findings may prove helpful for diagnosis and decision-making regarding therapy in OI.
Chi-chin Sun - One of the best experts on this subject based on the ideXlab platform.
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Alport syndrome with recurrent herpes simplex virus keratitis.
Cornea, 2007Co-Authors: Pei-chen Chung, Hu-shien Song, Samuel C M Huang, Ken-kuo Lin, Chi-chin SunAbstract:PURPOSE To report a case of Alport syndrome with recurrent herpes simplex virus (HSV) keratitis. METHODS Case report and review of the literature. RESULTS A 29-year-old man with Alport syndrome suffered from 4 consecutive episodes of HSV keratitis within 2 years. A type IV Collagen Defect in basement membranes plays an important role in the pathogenesis of Alport syndrome. The relationship between HSV keratitis and Alport syndrome is discussed. After remission from HSV keratitis, the patient underwent bilateral phacoemulsification and posterior-chamber intraocular lens implantation for anterior lenticonus and an anterior polar cataract. After surgery, the uncorrected visual acuity was 20/20 in both eyes. CONCLUSIONS We assume that the underlying basement membrane Defects in Alport syndrome may account for the recurrent episodes of HSV keratitis in this patient. In addition, phacoemulsification and posterior-chamber intraocular lens implantation, rather than correction of refractive errors, provide a safe and efficient therapeutic choice for the management of anterior lenticonus, with or without associated cataract in patients with Alport syndrome.
F Michael Pope - One of the best experts on this subject based on the ideXlab platform.
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Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I Collagen mutations.
American journal of medical genetics. Part A, 2013Co-Authors: Anthony M Vandersteen, Allan M Lund, David J P Ferguson, Philip Sawle, Rebecca C Pollitt, Susan E Holder, Emma Wakeling, Neil Moat, F Michael PopeAbstract:Osteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures from infancy. We present four examples of OI type I complicated by valvular heart disease and associated with tissue fragility. The diagnosis of a type I Collagen disorder was confirmed by abnormal COL1A1 or COL1A2 gene sequencing. One patient was investigated with electrophoresis of Collagens from cultured skin fibroblasts, showing structurally abnormal Collagen type I, skin biopsy showed unusual histology and abnormal Collagen fibril ultra-structure at electron microscopy. The combined clinical, surgical, histological, ultra-structural, and molecular genetic data suggest the type I Collagen Defect as contributory to cardiac valvular disease. The degree of tissue fragility experienced at cardiac surgery in these individuals, also reported in a small number of similar case reports, suggests that patients with OI type I need careful pre-operative assessment and consideration of the risks and benefits of cardiac surgery.
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Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I Collagen mutations.
American Journal of Medical Genetics Part A, 2013Co-Authors: Anthony M Vandersteen, Allan M Lund, David J P Ferguson, Philip Sawle, Rebecca C Pollitt, Susan E Holder, Emma Wakeling, Neil Moat, F Michael PopeAbstract:Osteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures from infancy. We present four examples of OI type I complicated by valvular heart disease and associated with tissue fragility. The diagnosis of a type I Collagen disorder was confirmed by abnormal COL1A1 or COL1A2 gene sequencing. One patient was investigated with electrophoresis of Collagens from cultured skin fibroblasts, showing structurally abnormal Collagen type I, skin biopsy showed unusual histology and abnormal Collagen fibril ultra-structure at electron microscopy. The combined clinical, surgical, histological, ultra-structural, and molecular genetic data suggest the type I Collagen Defect as contributory to cardiac valvular disease. The degree of tissue fragility experienced at cardiac surgery in these individuals, also reported in a small number of similar case reports, suggests that patients with OI type I need careful pre-operative assessment and consideration of the risks and benefits of cardiac surgery. © 2013 Wiley Periodicals, Inc.