Kent Small - Academia.edu (original) (raw)
Papers by Kent Small
Oxford University Press eBooks, 2012
Ophthalmology, Dec 1, 1989
Investigative Ophthalmology & Visual Science, Jun 16, 2013
Archives of Ophthalmology, Apr 1, 2001
1 are to be congratulated on their research of the autosomal dominant Stargardt disease gene (STG... more 1 are to be congratulated on their research of the autosomal dominant Stargardt disease gene (STGD3). This study contains some extremely complex issues that require some clarification , as well as some basic and simple findings that should be emphasized. The basic issues center on gene-alogy, phenotype classification (lumping vs splitting), genotype and haplotype analysis, and statistics. Since the submission and acceptance of this article by Donoso et al, a gene defect responsible for STGD3 was identified. 2 This recent finding helps to clarify several issues relevant to Donoso et al's article and the STGD3 gene locus in general. Their study used " high tech " as well as " low tech " molecular genetic methods, but nonetheless labor-intensive genealogical methods. As was the case with my own studies of North Carolina macular dystrophy, it was the genea-logical work that eventually lead the authors to study in more detail the molecular genetics of these different families. 3-5 It was the genealogical work that made it apparent that these different autosomal dominant Stargardt families likely originated from a common founder. Indeed, the base pair (bp) (position) deletion in the ELOVL4 gene 5 also shows a common founder in 4 small families with STGD3 1. Although genealogical methods are considered low tech, these methods are critically important and are the basic underpinnings of most, if not all, molecular genetics studies. The more accurate and complete these low tech data are, the greater the likelihood that the high tech molecular genetic parts of the study will be fruitful. Obtaining an extended family history in the United States is often difficult. Unlike isolated populations such as Finland and Iceland, there is no centralized genea-logical or medical database in the United States. Most Americans are not knowledgeable about their own family history going back more than 3 generations, and Ameri-can society is highly mobile. These factors make performing genealogical studies more difficult in America. Agrarian societies, where large stable families are typical , make genealogical studies fruitful, as demonstrated in this study. Developing family cooperation and trust are critical in these studies. This study begs the question, " what happened to the STGD2 locus on chromosome 13 reported by Zhang et al 6 ? " It now seems that the chromosome 13 locus (STGD2) might be an error, and that these families actually belong to the STGD3 locus on chromosome 6. 7 In light of …
Journal of Pediatric Ophthalmology & Strabismus, 1994
Archives of Ophthalmology, 2001
1 are to be congratulated on their research of the autosomal dominant Stargardt disease gene (STG... more 1 are to be congratulated on their research of the autosomal dominant Stargardt disease gene (STGD3). This study contains some extremely complex issues that require some clarification , as well as some basic and simple findings that should be emphasized. The basic issues center on gene-alogy, phenotype classification (lumping vs splitting), genotype and haplotype analysis, and statistics. Since the submission and acceptance of this article by Donoso et al, a gene defect responsible for STGD3 was identified. 2 This recent finding helps to clarify several issues relevant to Donoso et al's article and the STGD3 gene locus in general. Their study used " high tech " as well as " low tech " molecular genetic methods, but nonetheless labor-intensive genealogical methods. As was the case with my own studies of North Carolina macular dystrophy, it was the genea-logical work that eventually lead the authors to study in more detail the molecular genetics of these different families. 3-5 It was the genealogical work that made it apparent that these different autosomal dominant Stargardt families likely originated from a common founder. Indeed, the base pair (bp) (position) deletion in the ELOVL4 gene 5 also shows a common founder in 4 small families with STGD3 1. Although genealogical methods are considered low tech, these methods are critically important and are the basic underpinnings of most, if not all, molecular genetics studies. The more accurate and complete these low tech data are, the greater the likelihood that the high tech molecular genetic parts of the study will be fruitful. Obtaining an extended family history in the United States is often difficult. Unlike isolated populations such as Finland and Iceland, there is no centralized genea-logical or medical database in the United States. Most Americans are not knowledgeable about their own family history going back more than 3 generations, and Ameri-can society is highly mobile. These factors make performing genealogical studies more difficult in America. Agrarian societies, where large stable families are typical , make genealogical studies fruitful, as demonstrated in this study. Developing family cooperation and trust are critical in these studies. This study begs the question, " what happened to the STGD2 locus on chromosome 13 reported by Zhang et al 6 ? " It now seems that the chromosome 13 locus (STGD2) might be an error, and that these families actually belong to the STGD3 locus on chromosome 6. 7 In light of …
Journal of vitreoretinal diseases, 2017
Graefes Archive for Clinical and Experimental Ophthalmology, Dec 7, 2010
Purpose-To correlate the clinical and histopathologic features of Best vitelliform macular dystro... more Purpose-To correlate the clinical and histopathologic features of Best vitelliform macular dystrophy (BVMD). Methods-Two eyes were obtained postmortem from a patient with BVMD. The patient's clinical information was reviewed. Series sections of the globes were performed and sequentially stained with hematoxylin-eosin, periodic acid-Schiff or Masson trichrome. A section of the left macula was submitted for electron microscopic processing. Histopathologic findings were reconstructed in a scaled two-dimensional map and compared with fundus photography, fundus autofluorescence (FAF), fundus fluorescein angiography (FFA) and optical coherence tomography (OCT) images. Results-The macular lesion of the right eye was identified as a well-demarcated region with pigment, elevated submacular yellow material and subretinal fluid. This corresponded histopathologically to a well-circumscribed area of RPE hyperplasia, accumulation of lipofuscin in the RPE, deposition of granular material in the photoreceptors, macrophages and drusen. The left eye displayed a 1 disc diameter chorioretinal scar with surrounding shallow fluid and submacular pigment. This corresponded to RPE changes and a fibrocellular proliferation in the choriocapillaris. Conclusion-Histopathologic mapping revealed retinal edema, RPE abnormalities, drusen and a chorioretinal scar in BVMD that correlated with the fundus, FFA, FAF and OCT findings.
Graefe's Archive for Clinical and Experimental Ophthalmology, 2010
Investigative Ophthalmology & Visual Science, Aug 21, 1995
American Journal of Ophthalmology, Oct 1, 2003
Charcot-Marie-Tooth disease (CMT) 2A with optic atrophy is referred to as hereditary motor and se... more Charcot-Marie-Tooth disease (CMT) 2A with optic atrophy is referred to as hereditary motor and sensory neuropathy type VI (HMSN VI) and is caused by mitofusin 2 gene (MFN2) mutation. In patients with MFN2 related CMT, central nervous system is known to be also involved and cerebral white matter is mostly involved. We report a patient confirmed as HMSN VI who had isolated bilateral middle cerebellar peduncular lesions in brain MRI.
Investigative Ophthalmology & Visual Science, Apr 30, 2014
Investigative Ophthalmology & Visual Science, Jun 11, 2015
Acta diabetologica latina, Dec 1, 1989
Diabetic patients appear to be at an increased risk for perioperative morbidity and mortality fol... more Diabetic patients appear to be at an increased risk for perioperative morbidity and mortality following coronary artery bypass grafting. Many have suggested that microangiopathy is a primary cause. Using radionuclide labelled microspheres, we measured the perfusion of the subendocardium, midmyocardium, subepicardium, and the subendocardium/subepicardium ratio in alloxan-induced diabetic and normal dogs. We found no statistical difference in the myocardial perfusion of dogs made diabetic for five months when compared to normal dogs. By using repeated measures two-factor analysis of variance-regression model, changing blood glucose levels had no effect on coronary blood flow in either the diabetic or normal dogs.
Proceedings of the National Academy of Sciences of the United States of America, Jun 7, 2018
Oxford University Press eBooks, 2012
Ophthalmology, Dec 1, 1989
Investigative Ophthalmology & Visual Science, Jun 16, 2013
Archives of Ophthalmology, Apr 1, 2001
1 are to be congratulated on their research of the autosomal dominant Stargardt disease gene (STG... more 1 are to be congratulated on their research of the autosomal dominant Stargardt disease gene (STGD3). This study contains some extremely complex issues that require some clarification , as well as some basic and simple findings that should be emphasized. The basic issues center on gene-alogy, phenotype classification (lumping vs splitting), genotype and haplotype analysis, and statistics. Since the submission and acceptance of this article by Donoso et al, a gene defect responsible for STGD3 was identified. 2 This recent finding helps to clarify several issues relevant to Donoso et al's article and the STGD3 gene locus in general. Their study used " high tech " as well as " low tech " molecular genetic methods, but nonetheless labor-intensive genealogical methods. As was the case with my own studies of North Carolina macular dystrophy, it was the genea-logical work that eventually lead the authors to study in more detail the molecular genetics of these different families. 3-5 It was the genealogical work that made it apparent that these different autosomal dominant Stargardt families likely originated from a common founder. Indeed, the base pair (bp) (position) deletion in the ELOVL4 gene 5 also shows a common founder in 4 small families with STGD3 1. Although genealogical methods are considered low tech, these methods are critically important and are the basic underpinnings of most, if not all, molecular genetics studies. The more accurate and complete these low tech data are, the greater the likelihood that the high tech molecular genetic parts of the study will be fruitful. Obtaining an extended family history in the United States is often difficult. Unlike isolated populations such as Finland and Iceland, there is no centralized genea-logical or medical database in the United States. Most Americans are not knowledgeable about their own family history going back more than 3 generations, and Ameri-can society is highly mobile. These factors make performing genealogical studies more difficult in America. Agrarian societies, where large stable families are typical , make genealogical studies fruitful, as demonstrated in this study. Developing family cooperation and trust are critical in these studies. This study begs the question, " what happened to the STGD2 locus on chromosome 13 reported by Zhang et al 6 ? " It now seems that the chromosome 13 locus (STGD2) might be an error, and that these families actually belong to the STGD3 locus on chromosome 6. 7 In light of …
Journal of Pediatric Ophthalmology & Strabismus, 1994
Archives of Ophthalmology, 2001
1 are to be congratulated on their research of the autosomal dominant Stargardt disease gene (STG... more 1 are to be congratulated on their research of the autosomal dominant Stargardt disease gene (STGD3). This study contains some extremely complex issues that require some clarification , as well as some basic and simple findings that should be emphasized. The basic issues center on gene-alogy, phenotype classification (lumping vs splitting), genotype and haplotype analysis, and statistics. Since the submission and acceptance of this article by Donoso et al, a gene defect responsible for STGD3 was identified. 2 This recent finding helps to clarify several issues relevant to Donoso et al's article and the STGD3 gene locus in general. Their study used " high tech " as well as " low tech " molecular genetic methods, but nonetheless labor-intensive genealogical methods. As was the case with my own studies of North Carolina macular dystrophy, it was the genea-logical work that eventually lead the authors to study in more detail the molecular genetics of these different families. 3-5 It was the genealogical work that made it apparent that these different autosomal dominant Stargardt families likely originated from a common founder. Indeed, the base pair (bp) (position) deletion in the ELOVL4 gene 5 also shows a common founder in 4 small families with STGD3 1. Although genealogical methods are considered low tech, these methods are critically important and are the basic underpinnings of most, if not all, molecular genetics studies. The more accurate and complete these low tech data are, the greater the likelihood that the high tech molecular genetic parts of the study will be fruitful. Obtaining an extended family history in the United States is often difficult. Unlike isolated populations such as Finland and Iceland, there is no centralized genea-logical or medical database in the United States. Most Americans are not knowledgeable about their own family history going back more than 3 generations, and Ameri-can society is highly mobile. These factors make performing genealogical studies more difficult in America. Agrarian societies, where large stable families are typical , make genealogical studies fruitful, as demonstrated in this study. Developing family cooperation and trust are critical in these studies. This study begs the question, " what happened to the STGD2 locus on chromosome 13 reported by Zhang et al 6 ? " It now seems that the chromosome 13 locus (STGD2) might be an error, and that these families actually belong to the STGD3 locus on chromosome 6. 7 In light of …
Journal of vitreoretinal diseases, 2017
Graefes Archive for Clinical and Experimental Ophthalmology, Dec 7, 2010
Purpose-To correlate the clinical and histopathologic features of Best vitelliform macular dystro... more Purpose-To correlate the clinical and histopathologic features of Best vitelliform macular dystrophy (BVMD). Methods-Two eyes were obtained postmortem from a patient with BVMD. The patient's clinical information was reviewed. Series sections of the globes were performed and sequentially stained with hematoxylin-eosin, periodic acid-Schiff or Masson trichrome. A section of the left macula was submitted for electron microscopic processing. Histopathologic findings were reconstructed in a scaled two-dimensional map and compared with fundus photography, fundus autofluorescence (FAF), fundus fluorescein angiography (FFA) and optical coherence tomography (OCT) images. Results-The macular lesion of the right eye was identified as a well-demarcated region with pigment, elevated submacular yellow material and subretinal fluid. This corresponded histopathologically to a well-circumscribed area of RPE hyperplasia, accumulation of lipofuscin in the RPE, deposition of granular material in the photoreceptors, macrophages and drusen. The left eye displayed a 1 disc diameter chorioretinal scar with surrounding shallow fluid and submacular pigment. This corresponded to RPE changes and a fibrocellular proliferation in the choriocapillaris. Conclusion-Histopathologic mapping revealed retinal edema, RPE abnormalities, drusen and a chorioretinal scar in BVMD that correlated with the fundus, FFA, FAF and OCT findings.
Graefe's Archive for Clinical and Experimental Ophthalmology, 2010
Investigative Ophthalmology & Visual Science, Aug 21, 1995
American Journal of Ophthalmology, Oct 1, 2003
Charcot-Marie-Tooth disease (CMT) 2A with optic atrophy is referred to as hereditary motor and se... more Charcot-Marie-Tooth disease (CMT) 2A with optic atrophy is referred to as hereditary motor and sensory neuropathy type VI (HMSN VI) and is caused by mitofusin 2 gene (MFN2) mutation. In patients with MFN2 related CMT, central nervous system is known to be also involved and cerebral white matter is mostly involved. We report a patient confirmed as HMSN VI who had isolated bilateral middle cerebellar peduncular lesions in brain MRI.
Investigative Ophthalmology & Visual Science, Apr 30, 2014
Investigative Ophthalmology & Visual Science, Jun 11, 2015
Acta diabetologica latina, Dec 1, 1989
Diabetic patients appear to be at an increased risk for perioperative morbidity and mortality fol... more Diabetic patients appear to be at an increased risk for perioperative morbidity and mortality following coronary artery bypass grafting. Many have suggested that microangiopathy is a primary cause. Using radionuclide labelled microspheres, we measured the perfusion of the subendocardium, midmyocardium, subepicardium, and the subendocardium/subepicardium ratio in alloxan-induced diabetic and normal dogs. We found no statistical difference in the myocardial perfusion of dogs made diabetic for five months when compared to normal dogs. By using repeated measures two-factor analysis of variance-regression model, changing blood glucose levels had no effect on coronary blood flow in either the diabetic or normal dogs.
Proceedings of the National Academy of Sciences of the United States of America, Jun 7, 2018