The Experts below are selected from a list of 186 Experts worldwide ranked by ideXlab platform
Prapai Dejkhamron - One of the best experts on this subject based on the ideXlab platform.
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cutis laxa with pulmonary emphysema conjunctivochalasis nasolacrimal duct obstruction abnormal hair and a novel fbln5 mutation
American Journal of Medical Genetics Part A, 2014Co-Authors: Piranit Nik Kantaputra, Massupa Kaewgahya, Atchareeya Wiwatwongwana, Damrong Wiwatwongwana, Rekwan Sittiwangkul, Anak Iamaroon, Prapai DejkhamronAbstract:We report on a 4-year-old girl with autosomal recessive cutis laxa, type IA, or pulmonary emphysema type (ARCL1A; OMIM #219100), with loose and wrinkled skin, mitral and Tricuspid Valve Prolapse, conjunctivochalasis, obstructed nasolacrimal ducts, hypoplastic maxilla, and early childhood-onset pulmonary emphysema. Mutation analysis of FBLN5 showed a homozygous c.432C>G missense mutation, and heterozygosity in the parents. This is predicted to cause amino acid substitution p.Cys144Trp. Conjunctivochalasis or redundant folds of conjunctiva and obstructed nasolacrimal ducts have not been reported to be associated with FBLN5 mutations. Histopathological study of the conjunctival biopsy showed that most blood vessels had normal elastic fibers. The gingiva appeared normal, but histologically elastic fibers were defective. Scanning electron micrography of scalp hair demonstrated hypoplastic hair follicles. The cuticles appear intact underneath the filamentous meshwork. © 2014 Wiley Periodicals, Inc.
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Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.
American Journal of Medical Genetics Part A, 2014Co-Authors: Piranit Nik Kantaputra, Massupa Kaewgahya, Atchareeya Wiwatwongwana, Damrong Wiwatwongwana, Rekwan Sittiwangkul, Anak Iamaroon, Prapai DejkhamronAbstract:We report on a 4-year-old girl with autosomal recessive cutis laxa, type IA, or pulmonary emphysema type (ARCL1A; OMIM #219100), with loose and wrinkled skin, mitral and Tricuspid Valve Prolapse, conjunctivochalasis, obstructed nasolacrimal ducts, hypoplastic maxilla, and early childhood-onset pulmonary emphysema. Mutation analysis of FBLN5 showed a homozygous c.432C>G missense mutation, and heterozygosity in the parents. This is predicted to cause amino acid substitution p.Cys144Trp. Conjunctivochalasis or redundant folds of conjunctiva and obstructed nasolacrimal ducts have not been reported to be associated with FBLN5 mutations. Histopathological study of the conjunctival biopsy showed that most blood vessels had normal elastic fibers. The gingiva appeared normal, but histologically elastic fibers were defective. Scanning electron micrography of scalp hair demonstrated hypoplastic hair follicles. The cuticles appear intact underneath the filamentous meshwork.
Piranit Nik Kantaputra - One of the best experts on this subject based on the ideXlab platform.
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cutis laxa with pulmonary emphysema conjunctivochalasis nasolacrimal duct obstruction abnormal hair and a novel fbln5 mutation
American Journal of Medical Genetics Part A, 2014Co-Authors: Piranit Nik Kantaputra, Massupa Kaewgahya, Atchareeya Wiwatwongwana, Damrong Wiwatwongwana, Rekwan Sittiwangkul, Anak Iamaroon, Prapai DejkhamronAbstract:We report on a 4-year-old girl with autosomal recessive cutis laxa, type IA, or pulmonary emphysema type (ARCL1A; OMIM #219100), with loose and wrinkled skin, mitral and Tricuspid Valve Prolapse, conjunctivochalasis, obstructed nasolacrimal ducts, hypoplastic maxilla, and early childhood-onset pulmonary emphysema. Mutation analysis of FBLN5 showed a homozygous c.432C>G missense mutation, and heterozygosity in the parents. This is predicted to cause amino acid substitution p.Cys144Trp. Conjunctivochalasis or redundant folds of conjunctiva and obstructed nasolacrimal ducts have not been reported to be associated with FBLN5 mutations. Histopathological study of the conjunctival biopsy showed that most blood vessels had normal elastic fibers. The gingiva appeared normal, but histologically elastic fibers were defective. Scanning electron micrography of scalp hair demonstrated hypoplastic hair follicles. The cuticles appear intact underneath the filamentous meshwork. © 2014 Wiley Periodicals, Inc.
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Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.
American Journal of Medical Genetics Part A, 2014Co-Authors: Piranit Nik Kantaputra, Massupa Kaewgahya, Atchareeya Wiwatwongwana, Damrong Wiwatwongwana, Rekwan Sittiwangkul, Anak Iamaroon, Prapai DejkhamronAbstract:We report on a 4-year-old girl with autosomal recessive cutis laxa, type IA, or pulmonary emphysema type (ARCL1A; OMIM #219100), with loose and wrinkled skin, mitral and Tricuspid Valve Prolapse, conjunctivochalasis, obstructed nasolacrimal ducts, hypoplastic maxilla, and early childhood-onset pulmonary emphysema. Mutation analysis of FBLN5 showed a homozygous c.432C>G missense mutation, and heterozygosity in the parents. This is predicted to cause amino acid substitution p.Cys144Trp. Conjunctivochalasis or redundant folds of conjunctiva and obstructed nasolacrimal ducts have not been reported to be associated with FBLN5 mutations. Histopathological study of the conjunctival biopsy showed that most blood vessels had normal elastic fibers. The gingiva appeared normal, but histologically elastic fibers were defective. Scanning electron micrography of scalp hair demonstrated hypoplastic hair follicles. The cuticles appear intact underneath the filamentous meshwork.
Mark E. Silverman - One of the best experts on this subject based on the ideXlab platform.
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Tricuspid Valve honk due to pulmonary hypertension secondary to left atrial myxoma.
The American journal of cardiology, 1991Co-Authors: Michael P. Cecil, Mark E. SilvermanAbstract:Abstract ATricuspid “honk” is a rare and fascinating auscultatory phenomenon that has been heard in patients with congestive cardiomyopathy, 1 a right-sided cardiac pacemaker catheter, 2 Tricuspid Valve Prolapse, 3 cor pulmonale 4 and mitral stenosis with pulmonary hypertension. 5 We report a patient in whom a Tricuspid honk was due to a left atrial myxoma causing severe pulmonary hypertension and secondary Tricuspid regurgitation.
Norman E. Liddell - One of the best experts on this subject based on the ideXlab platform.
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Transesophageal echocardiography: Normal variants and mimickers
American heart journal, 1992Co-Authors: Marcus F. Stoddard, Norman E. Liddell, Rita A. Longaker, Phillip R. DawkinsAbstract:An accurate diagnosis of cardiac pathology using TEE is contingent upon the ability to recognize and differentiate normal cardiac structures and normal variants from pathologic conditions. We describe several normal cardiac structures commonly imaged using TEE of the atria, interatrial septum, aorta, Valves, and extracardiac spaces that may mimic diverse pathologic states, such as intracardiac tumor and thrombus, valvular vegetations, mitral and Tricuspid Valve Prolapse, atherosclerotic plaque, and aortic dissection. Methods to aid in the differentiation of normal cardiac structures from pathology are offered.
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Transesophageal echocardiographic diagnosis of isolated Tricuspid Valve Prolapse with severe Tricuspid regurgitation
American heart journal, 1992Co-Authors: Norman E. Liddell, Marcus F. Stoddard, J. David Talley, Vincent L. Guinn, Joel KupersmithAbstract:Prolapse of only the Tricuspid Valve (TVP), with or without associated cardiac disease, is a phenomenon infrequently reported.’ Weinreich et a1.2 in 1985 found just 34 cases in the world literature. Even rarer are descriptions of Tricuspid regurgitation (TR) with isolated TVP. This combination of findings was implied but not well documented in two of the patients described by Weinreich et al. In a 1975 catheterization study of TVP by Maranhao et al.,s “mild or moderate degrees of Tricuspid regurgitation occurred in some cases, but was caused, at least in part, by catheter impingement.“3 In 1985, Yamazaki et a1.4 found mild TR by contrast two-dimensional echocardiography and right ventriculography in a patient with isolated TVP. To our knowledge, the following is the first reported case of isolated TVP with severe TR, diagnosed by transesophageal echocardiography. A 40-year-old black man was referred by his family phy
Marcus F. Stoddard - One of the best experts on this subject based on the ideXlab platform.
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Transesophageal echocardiography: Normal variants and mimickers
American heart journal, 1992Co-Authors: Marcus F. Stoddard, Norman E. Liddell, Rita A. Longaker, Phillip R. DawkinsAbstract:An accurate diagnosis of cardiac pathology using TEE is contingent upon the ability to recognize and differentiate normal cardiac structures and normal variants from pathologic conditions. We describe several normal cardiac structures commonly imaged using TEE of the atria, interatrial septum, aorta, Valves, and extracardiac spaces that may mimic diverse pathologic states, such as intracardiac tumor and thrombus, valvular vegetations, mitral and Tricuspid Valve Prolapse, atherosclerotic plaque, and aortic dissection. Methods to aid in the differentiation of normal cardiac structures from pathology are offered.
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Transesophageal echocardiographic diagnosis of isolated Tricuspid Valve Prolapse with severe Tricuspid regurgitation
American heart journal, 1992Co-Authors: Norman E. Liddell, Marcus F. Stoddard, J. David Talley, Vincent L. Guinn, Joel KupersmithAbstract:Prolapse of only the Tricuspid Valve (TVP), with or without associated cardiac disease, is a phenomenon infrequently reported.’ Weinreich et a1.2 in 1985 found just 34 cases in the world literature. Even rarer are descriptions of Tricuspid regurgitation (TR) with isolated TVP. This combination of findings was implied but not well documented in two of the patients described by Weinreich et al. In a 1975 catheterization study of TVP by Maranhao et al.,s “mild or moderate degrees of Tricuspid regurgitation occurred in some cases, but was caused, at least in part, by catheter impingement.“3 In 1985, Yamazaki et a1.4 found mild TR by contrast two-dimensional echocardiography and right ventriculography in a patient with isolated TVP. To our knowledge, the following is the first reported case of isolated TVP with severe TR, diagnosed by transesophageal echocardiography. A 40-year-old black man was referred by his family phy
