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1. Clinical outcomes of endoscope-assisted vitrectomy for treatment of rhegmatogenous retinal detachment

Author

Yokoyama S, Kojima T, Mori T, Matsuda T, Sato H, Yoshida N, Kaga T, Smith RT, and Ichikawa K

Subjects
Endoscope-assisted vitrectomy, endoscopic vitrectomy, ophthalmic endoscope, retinal detachment, rhegmatogenous retinal detachment, Ophthalmology, RE1-994
Abstract

Sho Yokoyama,1 Takashi Kojima,2 Toshio Mori,3 Taisuke Matsuda,1 Hiroyuki Sato,3 Norihiko Yoshida,4 Tatsushi Kaga,1 R Theodore Smith,5 Kazuo Ichikawa6 1Department of Ophthalmology, Japan Community Healthcare Organization Chukyo Hospital, Nagoya, Japan; 2Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan; 3Department of Ophthalmology, Iida Municipal Hospital, Iida, Japan; 4Department of Ophthalmology, Japanese Red Cross Gifu Hospital, Gifu, Japan; 5Department of Ophthalmology, New York University School of Medicine, New York, NY, USA; 6Chukyo Eye Clinic, Nagoya, Japan Summary: We evaluated the clinical outcomes for ophthalmic endoscope-assisted vitrectomy in consecutive patients with uncomplicated rhegmatogenous retinal detachment (RRD). The primary success rate was 98.4% (125/127) without performing a posterior drainage retinotomy or using perfluorocarbon liquids (PFCL) for subretinal fluid drainage.Purpose: To investigate the clinical outcomes of endoscope-assisted vitrectomy in patients with uncomplicated RRD.Methods: We examined 127 eyes from consecutive patients who underwent repair of RRD by 23- or 25-gauge endoscope-assisted vitrectomy, with a minimum follow-up of 3 months. Eyes with the following criteria were excluded: Giant retinal tears, grade C proliferative vitreoretinopathy, dense vitreous hemorrhage, retinal detachment secondary to other ocular diseases, and prior retinal or vitreous surgery. All cases underwent subretinal fluid drainage, endolaser photocoagulation and fundus inspection were performed under ophthalmic endoscopic observation. Success rate, visual acuity, surgery time and complications were evaluated.Results: Primary and final success rate was 98.4% (125/127) and 100% (127/127), respectively, Surgery time was 59.6±26.3 minutes. The best-corrected visual acuity significantly improved from 20/100 to 20/20 (P

Published
2017

2. Your best day: An interactive app to translate how time reallocations within a 24-hour day are associated with health measures

Author

Harezlak, J, Dumuid, D, Olds, T, Wake, M, Rasmussen, CL, Pedisic, Z, Hughes, JH, Foster, DJR, Walmsley, R, Atkin, AJ, Straker, L, Fraysse, F, Smith, RT, Neumann, F, Kenett, RS, Mork, PJ, Bennett, D, Doherty, A, Stanford, T, Harezlak, J, Dumuid, D, Olds, T, Wake, M, Rasmussen, CL, Pedisic, Z, Hughes, JH, Foster, DJR, Walmsley, R, Atkin, AJ, Straker, L, Fraysse, F, Smith, RT, Neumann, F, Kenett, RS, Mork, PJ, Bennett, D, Doherty, A, and Stanford, T

Abstract

Reallocations of time between daily activities such as sleep, sedentary behavior and physical activity are differentially associated with markers of physical, mental and social health. An individual's most desirable allocation of time may differ depending on which outcomes they value most, with these outcomes potentially competing with each other for reallocations. We aimed to develop an interactive app that translates how self-selected time reallocations are associated with multiple health measures. We used data from the Australian Child Health CheckPoint study (n = 1685, 48% female, 11-12 y), with time spent in daily activities derived from a validated 24-h recall instrument, %body fat from bioelectric impedance, psychosocial health from the Pediatric Quality of Life Inventory and academic performance (writing) from national standardized tests. We created a user-interface to the compositional isotemporal substitution model with interactive sliders that can be manipulated to self-select time reallocations between activities. The time-use composition was significantly associated with body fat percentage (F = 2.66, P < .001), psychosocial health (F = 4.02, P < .001), and academic performance (F = 2.76, P < .001). Dragging the sliders on the app shows how self-selected time reallocations are associated with the health measures. For example, reallocating 60 minutes from screen time to physical activity was associated with -0.8 [95% CI -1.0 to -0.5] %body fat, +1.9 [1.4 to 2.5] psychosocial score and +4.5 [1.8 to 7.2] academic performance. Our app allows the health associations of time reallocations to be compared against each other. Interactive interfaces provide flexibility in selecting which time reallocations to investigate, and may transform how research findings are disseminated.

Published
2022

3. Your best day: An interactive app to translate how time reallocations within a 24-hour day are associated with health measures

Author

Dumuid, D, Olds, T, Wake, M, Lund Rasmussen, C, Pedišić, Ž, Hughes, JH, Foster, D Jr, Walmsley, R, Atkin, AJ, Straker, L, Fraysse, F, Smith, RT, Neumann, F, Kenett, RS, Jarle Mork, P, Bennett, D, Doherty, A, Stanford, T, Dumuid, Dorothea, Olds, Timothy, Wake, Melissa, Lund Rasmussen, Charlotte, Pedišić, Željko, Hughes, Jim H, Foster, David JR, Walmsley, Rosemary, Atkin, Andrew J, Straker, Leon, Fraysse, Francois, Smith, Ross T, Neumann, Frank, Kenett, Ron S, Jarle Mork, Paul, Bennett, Derrick, Doherty, Aiden, and Stanford, Ty

Subjects
Male, Multidisciplinary, exercise, Australia, physical activity, mobile application, time reallocations, Mobile Applications, quality of life, sedentary behaviour, Quality of Life, Humans, Female, Sedentary Behavior, Child, Exercise
Abstract

Reallocations of time between daily activities such as sleep, sedentary behavior and physical activity are differentially associated with markers of physical, mental and social health. An individual’s most desirable allocation of time may differ depending on which outcomes they value most, with these outcomes potentially competing with each other for reallocations. We aimed to develop an interactive app that translates how self-selected time reallocations are associated with multiple health measures. We used data from the Australian Child Health CheckPoint study (n = 1685, 48% female, 11–12 y), with time spent in daily activities derived from a validated 24-h recall instrument, %body fat from bioelectric impedance, psychosocial health from the Pediatric Quality of Life Inventory and academic performance (writing) from national standardized tests. We created a user-interface to the compositional isotemporal substitution model with interactive sliders that can be manipulated to self-select time reallocations between activities. The time-use composition was significantly associated with body fat percentage (F = 2.66, P < .001), psychosocial health (F = 4.02, P < .001), and academic performance (F = 2.76, P < .001). Dragging the sliders on the app shows how self-selected time reallocations are associated with the health measures. For example, reallocating 60 minutes from screen time to physical activity was associated with -0.8 [95% CI -1.0 to -0.5] %body fat, +1.9 [1.4 to 2.5] psychosocial score and +4.5 [1.8 to 7.2] academic performance. Our app allows the health associations of time reallocations to be compared against each other. Interactive interfaces provide flexibility in selecting which time reallocations to investigate, and may transform how research findings are disseminated.

Published
2022

4. Mucinosis: Treatment with Radiation Therapy A Case Report

Author

Paul Rava, Maryann Bishop-Jodoin, Andrea Hebert Rt, Kara Banson, Samantha Boudreau Rt, Allison Sacher, Kevin C. O’Connor, Nadine Bayless, Kelly Fournier Rt, Raymond Geitler Rt, Carla Bradford, Erica Smith Rt, Thomas Quinn Rt, Jesse N. Aronowitz, TJ Fitz Gerald, Harry Bushe, James Shen, Linda Ding, and Jonathan Roubil

Subjects
Radiation therapy, medicine.medical_specialty, business.industry, medicine.medical_treatment, medicine, business, medicine.disease, Dermatology, Mucinosis
Published
2021
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5. Quantitative fundus autofluorescence (qAF) of SA secondary to AMD

Author

Smith, RT and Freund, KB

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Purpose: Quantitative autofluorescence (qAF) offers scaled, reproducible AF measurements between patients and over time. We studied qAF in lobules of geographic atrophy (GA) to correlate with two main pathways from intermediate age-related macular degeneration (iAMD) to two phenotypes of GA. Methods:[for full text, please go to the a.m. URL], 7th International Symposium on AMD: Age-related Macular Degeneration - Understanding Pathogenetic Mechanisms of Disease

Published
2020
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6. Artificial Intelligence to Stratify Severity of Age-Related Macular Degeneration (AMD) and Predict Risk of Progression to Late AMD.

Author

Bhuiyan, A, Wong, TY, Ting, DSW, Govindaiah, A, Souied, EH, Smith, RT, Bhuiyan, A, Wong, TY, Ting, DSW, Govindaiah, A, Souied, EH, and Smith, RT

Abstract

PURPOSE: To build and validate artificial intelligence (AI)-based models for AMD screening and for predicting late dry and wet AMD progression within 1 and 2 years. METHODS: The dataset of the Age-related Eye Disease Study (AREDS) was used to train and validate our prediction model. External validation was performed on the Nutritional AMD Treatment-2 (NAT-2) study. FIRST STEP: An ensemble of deep learning screening methods was trained and validated on 116,875 color fundus photos from 4139 participants in the AREDS study to classify them as no, early, intermediate, or advanced AMD and further stratified them along the AREDS 12 level severity scale. Second step: the resulting AMD scores were combined with sociodemographic clinical data and other automatically extracted imaging data by a logistic model tree machine learning technique to predict risk for progression to late AMD within 1 or 2 years, with training and validation performed on 923 AREDS participants who progressed within 2 years, 901 who progressed within 1 year, and 2840 who did not progress within 2 years. For those found at risk of progression to late AMD, we further predicted the type (dry or wet) of the progression of late AMD. RESULTS: For identification of early/none vs. intermediate/late (i.e., referral level) AMD, we achieved 99.2% accuracy. The prediction model for a 2-year incident late AMD (any) achieved 86.36% accuracy, with 66.88% for late dry and 67.15% for late wet AMD. For the NAT-2 dataset, the 2-year late AMD prediction accuracy was 84%. CONCLUSIONS: Validated color fundus photo-based models for AMD screening and risk prediction for late AMD are now ready for clinical testing and potential telemedical deployment. TRANSLATIONAL RELEVANCE: Noninvasive, highly accurate, and fast AI methods to screen for referral level AMD and to predict late AMD progression offer significant potential improvements in our care of this prevalent blinding disease.

Published
2020

7. Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration

Author

Waksmunski, AR, Grunin, M, Kinzy, TG, Igo, RP, Haines, JL, Bailey, JNC, Fritsche, LG, Igl, W, Grassmann, F, Sengupta, S, Bragg-Gresham, JL, Burdon, KP, Hebbring, SJ, Wen, C, Gorski, M, Kim, IK, Cho, D, Zack, D, Souied, E, Scholl, HPN, Bala, E, Lee, KE, Hunter, DJ, Sardell, RJ, Mitchell, P, Merriam, JE, Cipriani, V, Hoffman, JD, Schick, T, Lechanteur, YTE, Guymer, RH, Johnson, MP, Jiang, Y, Stanton, CM, Buitendijk, GHS, Zhan, X, Kwong, AM, Boleda, A, Brooks, M, Gieser, L, Ratnapriya, R, Branham, KE, Foerster, JR, Heckenlively, JR, Othman, M, Vote, BJ, Liang, HH, Souzeau, E, McAllister, IL, Isaacs, T, Hall, J, Lake, S, Mackey, DA, Constable, IJ, Craig, JE, Kitchner, TE, Yang, Z, Su, Z, Luo, H, Chen, D, Ouyang, H, Flagg, K, Lin, D, Mao, G, Ferreyra, H, Stark, K, von Strachwitz, CN, Wolf, A, Brandl, C, Rudolph, G, Olden, M, Morrison, MA, Morgan, DJ, Schu, M, Ahn, J, Silvestri, G, Tsironi, EE, Park, KH, Farrer, LA, Orlin, A, Brucker, A, Li, M, Curcio, CA, Mohand-Said, S, Sahel, J-A, Audo, I, Benchaboune, M, Cree, AJ, Rennie, CA, Goverdhan, S, Hagbi-Levi, S, Campochiaro, P, Katsanis, N, Holz, FG, Blond, F, Blanche, H, Deleuze, J-F, Truitt, B, Peachey, NS, Meuer, SM, Myers, CE, Moore, EL, Klein, R, Hauser, MA, Postel, EA, Courtenay, MD, Schwartz, SG, Kovach, JL, Scott, WK, Liew, G, Tan, AG, Gopinath, B, Merriam, JC, Smith, RT, Khan, JC, Shahid, H, Moore, AT, McGrath, JA, Laux, R, Brantley, MA, Agarwal, A, Ersoy, L, Caramoy, A, Langmann, T, Saksens, NTM, de Jong, EK, Hoyng, CB, Cain, MS, Richardson, AJ, Martin, TM, Blangero, J, Weeks, DE, Dhillon, B, van Duijn, CM, Doheny, KF, Romm, J, Klaver, CCW, Hayward, C, Gorin, MB, Klein, ML, Baird, PN, den Hollander, A, Fauser, S, Yates, JRW, Allikmets, R, Wang, JJ, Schaumberg, DA, Klein, BEK, Hagstrom, SA, Chowers, I, Lotery, AJ, Leveillard, T, Zhang, K, Brilliant, MH, Hewitt, AW, Swaroop, A, Chew, EY, Pericak-Vance, MA, DeAngelis, M, Stambolian, D, Iyengar, SK, Weber, BHF, Abecasis, GR, Heid, IM, Waksmunski, AR, Grunin, M, Kinzy, TG, Igo, RP, Haines, JL, Bailey, JNC, Fritsche, LG, Igl, W, Grassmann, F, Sengupta, S, Bragg-Gresham, JL, Burdon, KP, Hebbring, SJ, Wen, C, Gorski, M, Kim, IK, Cho, D, Zack, D, Souied, E, Scholl, HPN, Bala, E, Lee, KE, Hunter, DJ, Sardell, RJ, Mitchell, P, Merriam, JE, Cipriani, V, Hoffman, JD, Schick, T, Lechanteur, YTE, Guymer, RH, Johnson, MP, Jiang, Y, Stanton, CM, Buitendijk, GHS, Zhan, X, Kwong, AM, Boleda, A, Brooks, M, Gieser, L, Ratnapriya, R, Branham, KE, Foerster, JR, Heckenlively, JR, Othman, M, Vote, BJ, Liang, HH, Souzeau, E, McAllister, IL, Isaacs, T, Hall, J, Lake, S, Mackey, DA, Constable, IJ, Craig, JE, Kitchner, TE, Yang, Z, Su, Z, Luo, H, Chen, D, Ouyang, H, Flagg, K, Lin, D, Mao, G, Ferreyra, H, Stark, K, von Strachwitz, CN, Wolf, A, Brandl, C, Rudolph, G, Olden, M, Morrison, MA, Morgan, DJ, Schu, M, Ahn, J, Silvestri, G, Tsironi, EE, Park, KH, Farrer, LA, Orlin, A, Brucker, A, Li, M, Curcio, CA, Mohand-Said, S, Sahel, J-A, Audo, I, Benchaboune, M, Cree, AJ, Rennie, CA, Goverdhan, S, Hagbi-Levi, S, Campochiaro, P, Katsanis, N, Holz, FG, Blond, F, Blanche, H, Deleuze, J-F, Truitt, B, Peachey, NS, Meuer, SM, Myers, CE, Moore, EL, Klein, R, Hauser, MA, Postel, EA, Courtenay, MD, Schwartz, SG, Kovach, JL, Scott, WK, Liew, G, Tan, AG, Gopinath, B, Merriam, JC, Smith, RT, Khan, JC, Shahid, H, Moore, AT, McGrath, JA, Laux, R, Brantley, MA, Agarwal, A, Ersoy, L, Caramoy, A, Langmann, T, Saksens, NTM, de Jong, EK, Hoyng, CB, Cain, MS, Richardson, AJ, Martin, TM, Blangero, J, Weeks, DE, Dhillon, B, van Duijn, CM, Doheny, KF, Romm, J, Klaver, CCW, Hayward, C, Gorin, MB, Klein, ML, Baird, PN, den Hollander, A, Fauser, S, Yates, JRW, Allikmets, R, Wang, JJ, Schaumberg, DA, Klein, BEK, Hagstrom, SA, Chowers, I, Lotery, AJ, Leveillard, T, Zhang, K, Brilliant, MH, Hewitt, AW, Swaroop, A, Chew, EY, Pericak-Vance, MA, DeAngelis, M, Stambolian, D, Iyengar, SK, Weber, BHF, Abecasis, GR, and Heid, IM

Abstract

PURPOSE: Age-related macular degeneration (AMD) is the worldwide leading cause of blindness among the elderly. Although genome-wide association studies (GWAS) have identified AMD risk variants, their roles in disease etiology are not well-characterized, and they only explain a portion of AMD heritability. METHODS: We performed pathway analyses using summary statistics from the International AMD Genomics Consortium's 2016 GWAS and multiple pathway databases to identify biological pathways wherein genetic association signals for AMD may be aggregating. We determined which genes contributed most to significant pathway signals across the databases. We characterized these genes by constructing protein-protein interaction networks and performing motif analysis. RESULTS: We determined that eight genes (C2, C3, LIPC, MICA, NOTCH4, PLCG2, PPARA, and RAD51B) "drive" the statistical signals observed across pathways curated in the Kyoto Encyclopedia of Genes and Genomes (KEGG), Reactome, and Gene Ontology (GO) databases. We further refined our definition of statistical driver gene to identify PLCG2 as a candidate gene for AMD due to its significant gene-level signals (P < 0.0001) across KEGG, Reactome, GO, and NetPath pathways. CONCLUSIONS: We performed pathway analyses on the largest available collection of advanced AMD cases and controls in the world. Eight genes strongly contributed to significant pathways from the three larger databases, and one gene (PLCG2) was central to significant pathways from all four databases. This is, to our knowledge, the first study to identify PLCG2 as a candidate gene for AMD based solely on genetic burden. Our findings reinforce the utility of integrating in silico genetic and biological pathway data to investigate the genetic architecture of AMD.

Published
2019

8. Classification of healthy and diseased retina using SD-OCT imaging and Random Forest algorithm

Author

Vavvas, DG, Hussain, MA, Bhuiyan, A, Luu, CD, Smith, RT, Guymer, RH, Ishikawa, H, Schuman, JS, Ramamohanarao, K, Vavvas, DG, Hussain, MA, Bhuiyan, A, Luu, CD, Smith, RT, Guymer, RH, Ishikawa, H, Schuman, JS, and Ramamohanarao, K

Abstract

In this paper, we propose a novel classification model for automatically identifying individuals with age-related macular degeneration (AMD) or Diabetic Macular Edema (DME) using retinal features from Spectral Domain Optical Coherence Tomography (SD-OCT) images. Our classification method uses retinal features such as the thickness of the retina and the thickness of the individual retinal layers, and the volume of the pathologies such as drusen and hyper-reflective intra-retinal spots. We extract automatically, ten clinically important retinal features by segmenting individual SD-OCT images for classification purposes. The effectiveness of the extracted features is evaluated using several classification methods such as Random Forrest on 251 (59 normal, 177 AMD and 15 DME) subjects. We have performed 15-fold cross-validation tests for three phenotypes; DME, AMD and normal cases using these data sets and achieved accuracy of more than 95% on each data set with the classification method using Random Forrest. When we trained the system as a two-class problem of normal and eye with pathology, using the Random Forrest classifier, we obtained an accuracy of more than 96%. The area under the receiver operating characteristic curve (AUC) finds a value of 0.99 for each dataset. We have also shown the performance of four state-of-the-methods for classification the eye participants and found that our proposed method showed the best accuracy.

Published
2018

11. As the bright light dims: loss of lipofuscin-attributable autofluorescence from RPE in aging and AMD

Author

Ach, T, Smith, RT, Ablonczy, Z, Hillenkamp, J, Heintzmann, R, Sloan, KR, and Curcio, CA

Subjects
ddc: 610, genetic structures, sense organs, 610 Medical sciences, Medicine, eye diseases
Abstract

Background: In healthy persons, fundus autofluorescence (AF) intensity diminishes after age 70 [ref:1], with the underlying mechanisms still unknown. In age-related macular degeneration (AMD), hypoautofluorescent areas in fundus AF-imaging are often referred to as retinal pigment epithelium[for full text, please go to the a.m. URL], VI. International Symposium on AMD – Age-Related Macular Degeneration – Emerging Concepts – Exploring known and Identifying new Pathways

Published
2015
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12. Using visuo-kinetic virtual reality to induce illusory spinal movement: The MoOVi illusion

Author

Harvie, DS, Smith, RT, Hunter, EV, Davis, MG, Sterling, M, Lorimer Moseley, G, Harvie, DS, Smith, RT, Hunter, EV, Davis, MG, Sterling, M, and Lorimer Moseley, G

Abstract

© 2017 Harvie et al. Background. Illusions that alter perception of the body provide novel opportunities to target brain-based contributions to problems such as persistent pain. One example of this, mirror therapy, uses vision to augment perceived movement of a painful limb to treat pain. Since mirrors can't be used to induce augmented neck or other spinal movement, we aimed to test whether such an illusion could be achieved using virtual reality, in advance of testing its potential therapeutic benefit. We hypothesised that perceived head rotation would depend on visually suggested movement. Method. In a within-subjects repeated measures experiment, 24 healthy volunteers performed neck movements to 50° of rotation, while a virtual reality system delivered corresponding visual feedback that was offset by a factor of 50%-200%-the Motor Offset Visual Illusion (MoOVi)-thus simulating more or less movement than that actually occurring. At 50° of real-world head rotation, participants pointed in the direction that they perceived they were facing. The discrepancy between actual and perceived direction was measured and compared between conditions. The impact of including multisensory (auditory and visual) feedback, the presence of a virtual body reference, and the use of 360° immersive virtual reality with and without three- dimensional properties, was also investigated. Results. Perception of head movement was dependent on visual-kinaesthetic feedback (p = 0:001, partial eta squared = 0.17). That is, altered visual feedback caused a kinaesthetic drift in the direction of the visually suggested movement. The magnitude of the drift was not moderated by secondary variables such as the addition of illusory auditory feedback, the presence of a virtual body reference, or three-dimensionality of the scene. Discussion. Virtual reality can be used to augment perceived movement and body position, such that one can perform a small movement, yet perceive a large one. The MoOVi techniq

Published
2017

13. The UK in Y2K

Author

CHRIS SMITH, RT HON

Subjects
United Kingdom -- Buildings and facilities, Millennium Dome -- Social aspects, Millennium -- Social aspects, Architecture and design industries, Business, Buildings and facilities, Social aspects
Abstract

WHILE THE DOME MAY BE THE MOST WELL KNOWN SYMBOL OF THE UNITED KINGDOM'S CELEBRATION OF THE MILLENNIUM, NUMEROUS PROJECTS ARE HELPING TO TRANSFORM THE REST OF THE COUNTRY. The [...]

Published
2000

14. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Author

Fritsche, LG, Igl, W, Bailey, JNC, Grassmann, F, Sengupta, S, Bragg-Gresham, JL, Burdon, KP, Hebbring, SJ, Wen, C, Gorski, M, Kim, IK, Cho, D, Zack, D, Souied, E, Scholl, HPN, Bala, E, Lee, KE, Hunter, DJ, Sardell, RJ, Mitchell, P, Merriam, JE, Cipriani, V, Hoffman, JD, Schick, T, Lechanteur, YTE, Guymer, RH, Johnson, MP, Jiang, Y, Stanton, CM, Buitendijk, GHS, Zhan, X, Kwong, AM, Boleda, A, Brooks, M, Gieser, L, Ratnapriya, R, Branham, KE, Foerster, JR, Heckenlively, JR, Othman, MI, Vote, BJ, Liang, HH, Souzeau, E, McAllister, IL, Isaacs, T, Hall, J, Lake, S, Mackey, DA, Constable, IJ, Craig, JE, Kitchner, TE, Yang, Z, Su, Z, Luo, H, Chen, D, Hong, O, Flagg, K, Lin, D, Mao, G, Ferreyra, H, Starke, K, von Strachwitz, CN, Wolf, A, Brandl, C, Rudolph, G, Olden, M, Morrison, MA, Morgan, DJ, Schu, M, Ahn, J, Silvestri, G, Tsironi, EE, Park, KH, Farrer, LA, Orlin, A, Brucker, A, Li, M, Curcio, CA, Mohand-Said, S, Sahel, J-M, Audo, I, Benchaboune, M, Cree, AJ, Rennie, CA, Goverdhan, SV, Grunin, M, Hagbi-Levi, S, Campochiaro, P, Katsanis, N, Holz, FG, Blond, F, Blanche, H, Deleuze, J-F, Igo, RP, Truitt, B, Peachey, NS, Meuer, SM, Myers, CE, Moore, EL, Klein, R, Hauser, MA, Postel, EA, Courtenay, MD, Schwartz, SG, Kovach, JL, Scott, WK, Liew, G, Tan, AG, Gopinath, B, Merriam, JC, Smith, RT, Khan, JC, Shahid, H, Moore, AT, McGrath, JA, Laux, R, Brantley, MA, Agarwal, A, Ersoy, L, Caramoy, A, Langmann, T, Saksens, NTM, de Jong, EK, Hoyng, CB, Cain, MS, Richardson, AJ, Martin, TM, Blangero, J, Weeks, DE, Dhillon, B, van Duijn, CM, Doheny, KF, Romm, J, Klaver, CCW, Hayward, C, Gorin, MB, Klein, ML, Baird, PN, den Hollander, AI, Fauser, S, Yates, JRW, Allikmets, R, Wang, JJ, Schaumberg, DA, Klein, BEK, Hagstrom, SA, Chowers, I, Lotery, AJ, Leveillard, T, Zhang, K, Brilliant, MH, Hewitt, AW, Swaroop, A, Chew, EY, Pericak-Vance, MA, DeAngelis, M, Stambolian, D, Haines, JL, Iyengar, SK, Weber, BHF, Abecasis, GR, Heid, IM, Fritsche, LG, Igl, W, Bailey, JNC, Grassmann, F, Sengupta, S, Bragg-Gresham, JL, Burdon, KP, Hebbring, SJ, Wen, C, Gorski, M, Kim, IK, Cho, D, Zack, D, Souied, E, Scholl, HPN, Bala, E, Lee, KE, Hunter, DJ, Sardell, RJ, Mitchell, P, Merriam, JE, Cipriani, V, Hoffman, JD, Schick, T, Lechanteur, YTE, Guymer, RH, Johnson, MP, Jiang, Y, Stanton, CM, Buitendijk, GHS, Zhan, X, Kwong, AM, Boleda, A, Brooks, M, Gieser, L, Ratnapriya, R, Branham, KE, Foerster, JR, Heckenlively, JR, Othman, MI, Vote, BJ, Liang, HH, Souzeau, E, McAllister, IL, Isaacs, T, Hall, J, Lake, S, Mackey, DA, Constable, IJ, Craig, JE, Kitchner, TE, Yang, Z, Su, Z, Luo, H, Chen, D, Hong, O, Flagg, K, Lin, D, Mao, G, Ferreyra, H, Starke, K, von Strachwitz, CN, Wolf, A, Brandl, C, Rudolph, G, Olden, M, Morrison, MA, Morgan, DJ, Schu, M, Ahn, J, Silvestri, G, Tsironi, EE, Park, KH, Farrer, LA, Orlin, A, Brucker, A, Li, M, Curcio, CA, Mohand-Said, S, Sahel, J-M, Audo, I, Benchaboune, M, Cree, AJ, Rennie, CA, Goverdhan, SV, Grunin, M, Hagbi-Levi, S, Campochiaro, P, Katsanis, N, Holz, FG, Blond, F, Blanche, H, Deleuze, J-F, Igo, RP, Truitt, B, Peachey, NS, Meuer, SM, Myers, CE, Moore, EL, Klein, R, Hauser, MA, Postel, EA, Courtenay, MD, Schwartz, SG, Kovach, JL, Scott, WK, Liew, G, Tan, AG, Gopinath, B, Merriam, JC, Smith, RT, Khan, JC, Shahid, H, Moore, AT, McGrath, JA, Laux, R, Brantley, MA, Agarwal, A, Ersoy, L, Caramoy, A, Langmann, T, Saksens, NTM, de Jong, EK, Hoyng, CB, Cain, MS, Richardson, AJ, Martin, TM, Blangero, J, Weeks, DE, Dhillon, B, van Duijn, CM, Doheny, KF, Romm, J, Klaver, CCW, Hayward, C, Gorin, MB, Klein, ML, Baird, PN, den Hollander, AI, Fauser, S, Yates, JRW, Allikmets, R, Wang, JJ, Schaumberg, DA, Klein, BEK, Hagstrom, SA, Chowers, I, Lotery, AJ, Leveillard, T, Zhang, K, Brilliant, MH, Hewitt, AW, Swaroop, A, Chew, EY, Pericak-Vance, MA, DeAngelis, M, Stambolian, D, Haines, JL, Iyengar, SK, Weber, BHF, Abecasis, GR, and Heid, IM

Abstract

Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 × 10(-8)) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 × 10(-10)). Very rare coding variants (frequency <0.1%) in CFH, CFI and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.

Published
2016

15. Resource support and heart patient recovery

Author

Helena Hämäläinen, Smith Rt, Arstila M, Kallio, T. Rönnemaa, Lind J, Kuttila K, and Pauli Puukka

Subjects
Male, medicine.medical_specialty, Multivariate analysis, Patient interview, Myocardial Infarction, Work Capacity Evaluation, Physical Therapy, Sports Therapy and Rehabilitation, Comorbidity, Bivariate analysis, Social class, Resource (project management), Activities of Daily Living, Outcome Assessment, Health Care, Health care, Humans, Medicine, Prospective Studies, Myocardial infarction, Coronary Artery Bypass, Prospective cohort study, Aged, business.industry, Rehabilitation, Middle Aged, medicine.disease, Social Class, Multivariate Analysis, Emergency medicine, Health Resources, Female, business
Abstract

This prospective study examines the effects of resources utilized by myocardial infarction (MI) and coronary artery bypass (BY) patients in the recovery process. The resource support model incorporates formal (institutionalized) and semi-formal (mutual aid) services along with informal assistance (social networks). Patient interview data were collected on 147 MI and 159 BY patients at hospitalization and at 3 months. Sociodemographic, illness and resource data were obtained, and hospital records were abstracted. Two outcomes were evaluated: activity limitations and work capacity. Bivariate and multivariate analyses were used to assess individual and resource effects. Multivariate analyses revealed that, for MI patients, a higher level of activity prior to hospitalization and a shorter hospital stay were significantly related to recovery. A smaller social network with greater frequency of contact enhanced recovery. For BY patients, recovery was significantly associated with higher social class higher level of activity prior to hospitalization and fewer health care visits. Outcome based on work capacity revealed that MI patients who were younger in age, male sex and who had fewer prescribed medications were more likely to recover. By patients had a similar pattern as that observed for MI patients in terms of age and sex. Co-morbidity had a negative effect on recovery. Those with less affective informal support were more likely to have recovered. The resource support model employed in this prospective study proved to have mixed results. However, the model may be a useful multifactorial framework for examining the effects on patient recovery over a longer duration.

Published
1997
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18. Detection of third and sixth cranial nerve palsies with a novel method for eye tracking while watching a short film clip

Author

Samadani, U, primary, Farooq, S, additional, Ritlop, R, additional, Warren, F, additional, Reyes, M, additional, Lamm, E, additional, Alex, A, additional, Nehrbass, E, additional, Kolecki, R, additional, Jureller, M, additional, Schneider, J, additional, Chen, A, additional, Shi, C, additional, Mendhiratta, N, additional, Huang, JH, additional, Qian, M, additional, Kwak, R, additional, Mikheev, A, additional, Rusinek, H, additional, George, A, additional, Fergus, R, additional, Kondziolka, D, additional, Huang, PP, additional, and Smith, RT, additional

Published
2015
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21. Seven new loci associated with age-related macular degeneration

Author

Fritsche, LG, Chen, W, Schu, M, Yaspan, BL, Yu, Y, Thorleifsson, G, Zack, DJ, Arakawa, S, Cipriani, V, Ripke, S, Igo, RP, Buitendijk, GHS, Sim, X, Weeks, DE, Guymer, RH, Merriam, JE, Francis, PJ, Hannum, G, Agarwal, A, Armbrecht, AM, Audo, I, Aung, T, Barile, GR, Benchaboune, M, Bird, AC, Bishop, PN, Branham, KE, Brooks, M, Brucker, AJ, Cade, WH, Cain, MS, Campochiaroll, PA, Chan, C-C, Cheng, C-Y, Chew, EY, Chin, KA, Chowers, I, Clayton, DG, Cojocaru, R, Conley, YP, Cornes, BK, Daly, MJ, Dhillon, B, Edwards, A, Evangelou, E, Fagemess, J, Ferreyra, HA, Friedman, JS, Geirsdottir, A, George, RJ, Gieger, C, Gupta, N, Hagstrom, SA, Harding, SP, Haritoglou, C, Heckenlively, JR, Hoz, FG, Hughes, G, Ioannidis, JPA, Ishibashi, T, Joseph, P, Jun, G, Kamatani, Y, Katsanis, N, Keilhauer, CN, Khan, JC, Kim, IK, Kiyohara, Y, Klein, BEK, Klein, R, Kovach, JL, Kozak, I, Lee, CJ, Lee, KE, Lichtner, P, Lotery, AJ, Meitinger, T, Mitchell, P, Mohand-Saied, S, Moore, AT, Morgan, DJ, Morrison, MA, Myers, CE, Naj, AC, Nakamura, Y, Okada, Y, Orlin, A, Ortube, MC, Othman, MI, Pappas, C, Park, KH, Pauer, GJT, Peachey, NS, Poch, O, Priya, RR, Reynolds, R, Richardson, AJ, Ripp, R, Rudolph, G, Ryu, E, Sahel, J-A, Schaumberg, DA, Scholl, HPN, Schwartz, SG, Scott, WK, Shahid, H, Sigurdsson, H, Silvestri, G, Sivakumaran, TA, Smith, RT, Sobrin, L, Souied, EH, Stambolian, DE, Stefansson, H, Sturgill-Short, GM, Takahashi, A, Tosakulwong, N, Truitt, BJ, Tsironi, EE, Uitterlinden, AG, van Duijn, CM, Vijaya, L, Vingerling, JR, Vithana, EN, Webster, AR, Wichmann, H-E, Winkler, TW, Wong, TY, Wright, AF, Zelenika, D, Zhang, M, Zhao, L, Zhang, K, Klein, ML, Hageman, GS, Lathrop, GM, Stefansson, K, Allikmets, R, Baird, PN, Gorin, MB, Wang, JJ, Klaver, CCW, Seddon, JM, Pericak-Vance, MA, Iyengar, SK, Yates, JRW, Swaroop, A, Weber, BHF, Kubo, M, DeAngelis, MM, Leveillard, T, Thorsteinsdottir, U, Haines, JL, Farrer, LA, Heid, IM, Abecasis, GR, Fritsche, LG, Chen, W, Schu, M, Yaspan, BL, Yu, Y, Thorleifsson, G, Zack, DJ, Arakawa, S, Cipriani, V, Ripke, S, Igo, RP, Buitendijk, GHS, Sim, X, Weeks, DE, Guymer, RH, Merriam, JE, Francis, PJ, Hannum, G, Agarwal, A, Armbrecht, AM, Audo, I, Aung, T, Barile, GR, Benchaboune, M, Bird, AC, Bishop, PN, Branham, KE, Brooks, M, Brucker, AJ, Cade, WH, Cain, MS, Campochiaroll, PA, Chan, C-C, Cheng, C-Y, Chew, EY, Chin, KA, Chowers, I, Clayton, DG, Cojocaru, R, Conley, YP, Cornes, BK, Daly, MJ, Dhillon, B, Edwards, A, Evangelou, E, Fagemess, J, Ferreyra, HA, Friedman, JS, Geirsdottir, A, George, RJ, Gieger, C, Gupta, N, Hagstrom, SA, Harding, SP, Haritoglou, C, Heckenlively, JR, Hoz, FG, Hughes, G, Ioannidis, JPA, Ishibashi, T, Joseph, P, Jun, G, Kamatani, Y, Katsanis, N, Keilhauer, CN, Khan, JC, Kim, IK, Kiyohara, Y, Klein, BEK, Klein, R, Kovach, JL, Kozak, I, Lee, CJ, Lee, KE, Lichtner, P, Lotery, AJ, Meitinger, T, Mitchell, P, Mohand-Saied, S, Moore, AT, Morgan, DJ, Morrison, MA, Myers, CE, Naj, AC, Nakamura, Y, Okada, Y, Orlin, A, Ortube, MC, Othman, MI, Pappas, C, Park, KH, Pauer, GJT, Peachey, NS, Poch, O, Priya, RR, Reynolds, R, Richardson, AJ, Ripp, R, Rudolph, G, Ryu, E, Sahel, J-A, Schaumberg, DA, Scholl, HPN, Schwartz, SG, Scott, WK, Shahid, H, Sigurdsson, H, Silvestri, G, Sivakumaran, TA, Smith, RT, Sobrin, L, Souied, EH, Stambolian, DE, Stefansson, H, Sturgill-Short, GM, Takahashi, A, Tosakulwong, N, Truitt, BJ, Tsironi, EE, Uitterlinden, AG, van Duijn, CM, Vijaya, L, Vingerling, JR, Vithana, EN, Webster, AR, Wichmann, H-E, Winkler, TW, Wong, TY, Wright, AF, Zelenika, D, Zhang, M, Zhao, L, Zhang, K, Klein, ML, Hageman, GS, Lathrop, GM, Stefansson, K, Allikmets, R, Baird, PN, Gorin, MB, Wang, JJ, Klaver, CCW, Seddon, JM, Pericak-Vance, MA, Iyengar, SK, Yates, JRW, Swaroop, A, Weber, BHF, Kubo, M, DeAngelis, MM, Leveillard, T, Thorsteinsdottir, U, Haines, JL, Farrer, LA, Heid, IM, and Abecasis, GR

Abstract

Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry. We identified 19 loci associated at P < 5 × 10(-8). These loci show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis. Our results include seven loci with associations reaching P < 5 × 10(-8) for the first time, near the genes COL8A1-FILIP1L, IER3-DDR1, SLC16A8, TGFBR1, RAD51B, ADAMTS9 and B3GALTL. A genetic risk score combining SNP genotypes from all loci showed similar ability to distinguish cases and controls in all samples examined. Our findings provide new directions for biological, genetic and therapeutic studies of AMD.

Published
2013

22. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Author

Yu, Y, Bhangale, TR, Fagerness, J, Ripke, S, Thorleifsson, G, Tan, PL, Souied, EH, Richardson, AJ, Merriam, JE, Buitendijk, GHS, Reynolds, R, Raychaudhuri, S, Chin, KA, Sobrin, L, Evangelou, E, Lee, PH, Lee, AY, Leveziel, N, Zack, DJ, Campochiaro, B, Campochiaro, P, Smith, RT, Barile, GR, Guymer, RH, Hogg, R, Chakravarthy, U, Robman, LD, Gustafsson, O, Sigurdsson, H, Ortmann, W, Behrens, TW, Stefansson, K, Uitterlinden, AG, van Duijn, CM, Vingerling, JR, Klaver, CCW, Allikmets, R, Brantley, MA, Baird, PN, Katsanis, N, Thorsteinsdottir, U, Ioannidis, JPA, Daly, MJ, Graham, RR, Seddon, JM, Yu, Y, Bhangale, TR, Fagerness, J, Ripke, S, Thorleifsson, G, Tan, PL, Souied, EH, Richardson, AJ, Merriam, JE, Buitendijk, GHS, Reynolds, R, Raychaudhuri, S, Chin, KA, Sobrin, L, Evangelou, E, Lee, PH, Lee, AY, Leveziel, N, Zack, DJ, Campochiaro, B, Campochiaro, P, Smith, RT, Barile, GR, Guymer, RH, Hogg, R, Chakravarthy, U, Robman, LD, Gustafsson, O, Sigurdsson, H, Ortmann, W, Behrens, TW, Stefansson, K, Uitterlinden, AG, van Duijn, CM, Vingerling, JR, Klaver, CCW, Allikmets, R, Brantley, MA, Baird, PN, Katsanis, N, Thorsteinsdottir, U, Ioannidis, JPA, Daly, MJ, Graham, RR, and Seddon, JM

Abstract

Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to the remaining genetic susceptibility, we performed the largest meta-analysis of genome-wide association studies to date for advanced AMD. We imputed 6 036 699 single-nucleotide polymorphisms with the 1000 Genomes Project reference genotypes on 2594 cases and 4134 controls with follow-up replication of top signals in 5640 cases and 52 174 controls. We identified two new common susceptibility alleles, rs1999930 on 6q21-q22.3 near FRK/COL10A1 [odds ratio (OR) 0.87; P = 1.1 × 10(-8)] and rs4711751 on 6p12 near VEGFA (OR 1.15; P = 8.7 × 10(-9)). In addition to the two novel loci, 10 previously reported loci in ARMS2/HTRA1 (rs10490924), CFH (rs1061170, and rs1410996), CFB (rs641153), C3 (rs2230199), C2 (rs9332739), CFI (rs10033900), LIPC (rs10468017), TIMP3 (rs9621532) and CETP (rs3764261) were confirmed with genome-wide significant signals in this large study. Loci in the recently reported genes ABCA1 and COL8A1 were also detected with suggestive evidence of association with advanced AMD. The novel variants identified in this study suggest that angiogenesis (VEGFA) and extracellular collagen matrix (FRK/COL10A1) pathways contribute to the development of advanced AMD.

Published
2011

23. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Author

Yu, Y (Yi), Bhangale, TR, Fagerness, J, Ripke, S, Thorleifsson, G, Tan, PL, Souied, EH, Richardson, AJ, Merriam, JE, Buitendijk, Gabriëlle, Reynolds, R, Raychaudhuri, S, Chin, KA, Sobrin, L, Evangelou, E, Lee, PH, Lee, A Y, Leveziel, N, Zack, DJ, Campochiaro, B, Campochiaro, P, Smith, RT, Barile, GR, Guymer, RH, Hogg, R, Chakravarthy, U, Robman, LD, Gustafsson, O, Sigurdsson, H, Ortmann, W, Behrens, TW, Stefansson, K, Uitterlinden, André, Duijn, Cornelia, Vingerling, Hans, Klaver, Caroline, Allikmets, R, Brantley, MA, Baird, PN, Katsanis, N, Thorsteinsdottir, U, Ioannidis, JPA, Daly, MJ, Graham, RR, Seddon, JM, Yu, Y (Yi), Bhangale, TR, Fagerness, J, Ripke, S, Thorleifsson, G, Tan, PL, Souied, EH, Richardson, AJ, Merriam, JE, Buitendijk, Gabriëlle, Reynolds, R, Raychaudhuri, S, Chin, KA, Sobrin, L, Evangelou, E, Lee, PH, Lee, A Y, Leveziel, N, Zack, DJ, Campochiaro, B, Campochiaro, P, Smith, RT, Barile, GR, Guymer, RH, Hogg, R, Chakravarthy, U, Robman, LD, Gustafsson, O, Sigurdsson, H, Ortmann, W, Behrens, TW, Stefansson, K, Uitterlinden, André, Duijn, Cornelia, Vingerling, Hans, Klaver, Caroline, Allikmets, R, Brantley, MA, Baird, PN, Katsanis, N, Thorsteinsdottir, U, Ioannidis, JPA, Daly, MJ, Graham, RR, and Seddon, JM

Abstract

Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to the remaining genetic susceptibility, we performed the largest meta-analysis of genome-wide association studies to date for advanced AMD. We imputed 6 036 699 single-nucleotide polymorphisms with the 1000 Genomes Project reference genotypes on 2594 cases and 4134 controls with follow-up replication of top signals in 5640 cases and 52 174 controls. We identified two new common susceptibility alleles, rs1999930 on 6q21-q22.3 near FRK/COL10A1 [odds ratio (OR) 0.87; P = 1.1 x 10(-8)] and rs4711751 on 6p12 near VEGFA (OR 1.15; P = 8.7 x 10(-9)). In addition to the two novel loci, 10 previously reported loci in ARMS2/HTRA1 (rs10490924), CFH (rs1061170, and rs1410996), CFB (rs641153), C3 (rs2230199), C2 (rs9332739), CFI (rs10033900), LIPC (rs10468017), TIMP3 (rs9621532) and CETP (rs3764261) were confirmed with genome-wide significant signals in this large study. Loci in the recently reported genes ABCA1 and COL8A1 were also detected with suggestive evidence of association with advanced AMD. The novel variants identified in this study suggest that angiogenesis (VEGFA) and extracellular collagen matrix (FRK/COL10A1) pathways contribute to the development of advanced AMD.

Published
2011

24. The ERCC6 Gene and Age-Related Macular Degeneration

Author

Baas, DC, Despriet, Dominiek, Gorgels, TGMF (Theo), Bergeron-Sawitzke, J, Uitterlinden, André, Hofman, Bert, Duijn, Cornelia, Merriam, JE, Smith, RT, Barile, GR, Brink, JB, Vingerling, Hans, Klaver, Caroline, Allikmets, R, Dean, M, Bergen, Arthur, Baas, DC, Despriet, Dominiek, Gorgels, TGMF (Theo), Bergeron-Sawitzke, J, Uitterlinden, André, Hofman, Bert, Duijn, Cornelia, Merriam, JE, Smith, RT, Barile, GR, Brink, JB, Vingerling, Hans, Klaver, Caroline, Allikmets, R, Dean, M, and Bergen, Arthur

Abstract

Background: Age-related macular degeneration (AMD) is the leading cause of irreversible visual loss in the developed countries and is caused by both environmental and genetic factors. A recent study (Tuo et al., PNAS) reported an association between AMD and a single nucleotide polymorphism (SNP) (rs3793784) in the ERCC6 (NM_000124) gene. The risk allele also increased ERCC6 expression. ERCC6 is involved in DNA repair and mutations in ERCC6 cause Cockayne syndrome (CS). Amongst others, photosensitivity and pigmentary retinopathy are hallmarks of CS. Methodology/Principal Findings: Separate and combined data from three large AMD case-control studies and a prospective population-based study (The Rotterdam Study) were used to analyse the genetic association between ERCC6 and AMD (2682 AMD cases and 3152 controls). We also measured ERCC6 mRNA levels in retinal pigment epithelium (RPE) cells of healthy and early AMD affected human donor eyes. Rs3793784 conferred a small increase in risk for late AMD in the Dutch population (The Rotterdam and AMRO-NL study), but this was not replicated in two non-European studies (AREDS, Columbia University). In addition, the AMRO-NL study revealed no significant association for 9 other variants spanning ERCC6. Finally, we determined that ERCC6 expression in the human RPE did not depend on rs3793784 genotype, but, interestingly, on AMD status: Early AMD-affected donor eyes had a 50% lower ERCC6 expression than healthy donor eyes (P = 0.018). Conclusions/Significance: Our meta-analysis of four Caucasian cohorts does not replicate the reported association between SNPs in ERCC6 and AMD. Nevertheless, our findings on ERCC6 expression in the RPE suggest that ERCC6 may be functionally involved in AMD. Combining our data with those of the literature, we hypothesize that the AMD-related reduced transcriptional activity of ERCC6 may be caused by diverse, small and heterogeneous genetic and/or environmental determinants.

Published
2010

26. 6442 Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 gene

Author

Burke, Tomas, primary, Fishman, GA, additional, Zernant, J, additional, Schuber, C, additional, Tsang, SH, additional, Smith, RT, additional, Ayyagari, R, additional, Koenekoop, RK, additional, Umfress, A, additional, Ciccarelli, ML, additional, Baldi, A, additional, Iannaccone, A, additional, Cremers, FP, additional, Klaver, CCW, additional, and Allikmets, R, additional

Published
2012
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28. SUDDEN CARDIAC DEATH AND THE USE OF IMPLANTABLE CARDIOVERTER-DEFIBRILLATORS IN PEDIATRIC-PATIENTS

Author

SILKA, MJ, KRON, J, DUNNIGAN, A, DICK, M, BINKBOELKENS, M, ERICKSON, CC, JEDEIKIN, R, WETZEL, GT, VANHARE, GF, CAMPBELL, R, WALSH, E, SAUL, JP, SCHAFFER, MS, KARPAWICH, P, VOGEL, RL, BENSON, DW, DEAL, B, SCAGLIOTTI, D, STERBA, R, HORDOF, AJ, KRONGRAD, E, KANTER, RJ, EPSTEIN, M, COHEN, M, BEDER, S, HAMILTON, R, FOURNIER, A, HUBBARD, J, CHRISTIANSEN, JL, JENNINGS, J, VILLAFANE, J, PORTER, CBJ, CASE, C, GILLETTE, PC, BELAND, M, KUGLER, JD, OCONNOR, BK, ALLENDER, H, HERNDON, SP, SMITH, RT, BURTON, D, KURER, CC, BYRUM, C, GUAM, WE, FRIEDMAN, R, PERRY, JC, SCOTT, W, MEHTA, AV, PICKHOFF, AS, FISH, F, YEAGER, S, KAWABORI, [No Value], TRIPPLE, M, ROSENFELD, LE, and Faculteit Medische Wetenschappen/UMCG

Subjects
STIMULATION, SURVIVORS, CARDIOMYOPATHY, CHILDREN, PEDIATRIC CARDIOLOGY, CONGENITAL HEART DISEASE, THERAPY, DISEASE, CARDIOVERTER-DEFIBRILLATOR, UNEXPECTED DEATH, MANAGEMENT, HEART, VENTRICULAR ARRHYTHMIA, SUDDEN CARDIAC DEATH, MALIGNANT VENTRICULAR ARRHYTHMIAS
Abstract

Background. During the past decade. the implantable cardioverter-defibrillator (ICD) has emerged as the primary therapeutic option for survivors of sudden cardiac death (SCD). Investigation of the clinical efficacy of these devices has primarily assessed outcome in adults with coronary artery disease. The purpose of this cooperative, international study was to evaluate the impact of ICDs on the pediatric population of SCD survivors, based on an analysis of the clinical characteristics and outcomes of young patients who underwent ICD implantation following an episode of life-threatening ventricular tachycardia or resuscitation from SCD. Methods and Results. An initial data base, established by contacting the manufacturers of the various commercially and investigationally available devices, identified 177 patients who were less than 20 years of age at the time of initial implantation of an ICD. With this data base as a reference, detailed responses were subsequently obtained from physicians involved in the care of 125 (71%) of these patients. The patients ranged in age from 1.9 to 19.9 years (mean, 14.5+/-4 years) and weighed 9.7-117 kg (mean, 44.6+/-14 kg). Of the 125 patients, 76% were survivors of SCD, 10% had drug refractory ventricular tachycardia, and 10% had syncope with heart disease and inducible sustained ventricular tachyarrhythmias. The most common types of associated cardiovascular disease were hypertrophic and dilated cardiomyopathies (54%), primary electrical diseases (26%), and congenital heart defects (18%). Ventricular function was abnormal in 46% of the patients. During a mean follow-up of 31+/-23 months, at least one ICD discharge occurred in 85 of the 125 (68%) patients. Seventy-three patients (59%) received at least one appropriate ICD discharge, and 25 patients (20%) had one or more spurious or indeterminate discharges. Duration of follow-up >24 months (p=0.001) and inducibility of a sustained ventricular arrhythmia (p=0.05) were correlated with appropriate ICD discharges. There were nine deaths during the study period: five sudden, two due to recurrent ventricular arrhythmias, and two related to congestive heart failure. Abnormal ventricular function (p=0.002) and prior ICD discharge (p=0.01) were univariate correlates of patient mortality; by multivariate logistic regression, abnormal ventricular function was the only significant correlate of death (p=0.005). By actuarial analysis, the estimated overall post-ICD implant survival rates at 1, 2, and 5 years were 95%, 93%, and 85%, respectively. The corresponding sudden death-free survival rates were 97%, 95%, and 90%. Conclusions. Pediatric patients resuscitated from SCD appear to remain at risk for recurrence of life-threatening tachyarrhythmias. During a mean follow-up of 31 months, the ICD provided an effective therapy for such arrhythmias in the majority of patients in this study. Following ICD implant, impaired ventricular function was the primary factor correlated with mortality. The patterns or ICD discharge observed in young patients and. thus, inferred risk of recurrent life threatening arrhythmias are similar to those of adult survivors of SCD. Thus, the use of ICDs in pediatric patients, with implant selection criteria similar to adults. appear valid.

Published
1993

29. Phreatoplinian eruptions

Author

Sigurdsson, Haraldur, Houghton, BF, Wilson, CJN, Smith, RT, Gilbert, JS, Sigurdsson, Haraldur, Houghton, BF, Wilson, CJN, Smith, RT, and Gilbert, JS

Published
2000

35. Pearls, pith, and provocation. The development of a social support intervention among African American women.

Author

DeJoseph JF, Norbeck JS, Smith RT, and Miller S

Abstract

The purpose of this feminist qualitative study was the development of a psychosocial intervention to reduce the number of low birthweight babies among lower income, socially isolated, pregnant, African American women. Using data from both group and individual interviews, we constructed a series of interactive sessions. The focus of these sessions was skill building, both to develop self-esteem and to access social support; and acknowledgment of the pregnant women's lives and experiences. [ABSTRACT FROM AUTHOR]

Published
1996
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37. Use of fluorosilicone to unfold a giant retinal tear

Author

Smith Rt and Gholam A. Peyman

Subjects
Male, medicine.medical_specialty, business.industry, Giant retinal tear, Retinal Detachment, Middle Aged, Retinal Perforations, Vitreous Body, Ophthalmology, Scleral Buckling, Optics, Fluorosilicone oil, Vitrectomy, medicine, Humans, Silicone Oils, Tissue Adhesives, Laser Therapy, business, Centistokes
Abstract

We unfolded and attached a giant retinal tear with an inverted edge using fluorosilicone oil while the patient was in the supine position. The advantages of high viscosity (10,000 centistokes) and specific gravity (1.31) fluorosilicone are discussed in this paper.

Published
1987

38. Surgical training for the general practitioner

Author

Smith Rt

Subjects
medicine.medical_specialty, business.industry, General Practitioners, Family medicine, General Surgery, medicine, Humans, General Medicine, business, Surgical training
Published
1951

40. A randomized trial of an empirically-derived social support intervention to prevent low birthweight among African American women.

Author

Norbeck JS, DeJoseph JF, and Smith RT

Abstract

Previous clinical trials of social support interventions to reduce low birthweight (LBW) have not fully capitalized on findings from social science research, and therefore have not used empirically-derived criteria to define a low social support population or to develop the intervention. To overcome limitations of previous studies, this randomized clinical trial tested the hypothesis that an empirically-derived social support intervention would reduce LBW among African American women. Based on prior work, African American women were identified as at-risk for LBW due to inadequate social support if they lacked support from their mothers or male partners. Focus groups were used in this study to develop a culturally-relevant intervention. Adult low-income African American pregnant women (n=319) were tested for inadequate social support in mid-pregnancy. Of these, 114 (36%) low-support women were identified and randomly assigned to the intervention group (n = 56) or control group (n = 58). The intervention was designed to provide the support usually provided by the pregnant woman's mother or male partner. It consisted of four standardized face-to-face sessions at two week intervals and telephone contact in the intervening weeks. Birthweight was obtained blinded from charts or birth certificates, with 99% follow-up. The rate of LBW (below 2500 grams) was 9.1% in the intervention group compared to 22.4% in the control group (P < 0.05). Contrary to previous studies, this social support intervention was effective in reducing the rate of LBW. It is promising that this intervention was successful for African Americans because the rate of LBW is twice as high among African Americans than among Caucasians. [ABSTRACT FROM AUTHOR]

Published
1996
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42. A mixed presence collaborative mixed reality system

Author

Mark Billinqhurs, Mitchell Norman, Ross T. Smith, Gun A. Lee, Norman, Mitchell, Lee, Gun, Smith, RT, Billinqhurst, Mark, and 26th IEEE Conference on Virtual Reality and 3D User Interfaces, VR 2019 Osaka, Japan 23-27 March 2019

Subjects
0209 industrial biotechnology, Collaborative software, Computer science, business.industry, Collaboration tool, 02 engineering and technology, Virtual reality, mixed presence, Mixed reality, augmented reality, Consistency (database systems), 020901 industrial engineering & automation, Human–computer interaction, remote collaboration, 0202 electrical engineering, electronic engineering, information engineering, 020201 artificial intelligence & image processing, Augmented reality, business
Abstract

Research has shown that Mixed Presence Groupware (MPG) systems are a valuable collaboration tool. However research into MPG systems is limited to a handful of tabletop and Virtual Reality (VR) systems with no exploration of Head-Mounted Display (HMD) based Augmented Reality (AR) solutions. We present a new system with two local users and one remote user using HMD based AR interfaces. Our system provides tools allowing users to layout a room with the help of a remote user. The remote user has access to a marker and pointer tools to assist in directing the local users. Feedback collected from several groups of users showed that our system is easy to learn but could have increased accuracy and consistency. Refereed/Peer-reviewed

Published
2019

43. Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene

Author

Tomas R. Burke, Robert K. Koenekoop, Caroline C W Klaver, Alfonso Baldi, F. P. M. Cremers, Jana Zernant, Alessandro Iannaccone, Radha Ayyagari, Carl Schubert, Allison C. Umfress, R. T. Smith, Rando Allikmets, Maria Laura Ciccarelli, Stephen H. Tsang, Gerald A. Fishman, Burke, Tr, Fishman, Ga, Zernant, J, Shubert, C, Tsang, Sh, Smith, Rt, Ayyagari, R, Koenekoop, Rk, Umfress, A, Ciccarelli, Ml, Baldi, Alfonso, Iannaccone, A, Cremers, Fp, Klaver, Cc, Allikmets, R., and Ophthalmology

Subjects
Pathology, medicine.medical_specialty, medicine.diagnostic_test, biology, Genetics and epigenetic pathways of disease [NCMLS 6], Fundus photography, ABCA4, Articles, Macular degeneration, Fundus (eye), medicine.disease, Fluorescein angiography, eye diseases, Stargardt disease, Mutation (genetic algorithm), medicine, biology.protein, Age of onset
Abstract

PURPOSE. We evaluated the pathogenicity of the G1961E mutation in the ABCA4 gene, and present the range of retinal phenotypes associated with this mutation in homozygosity in a patient cohort with ABCA4-associated phenotypes. METHODS. Patients were enrolled from the ABCA4 disease database at Columbia University or by inquiry from collaborating physicians. Only patients homozygous for the G1961E mutation were enrolled. The entire ABCA4 gene open reading frame, including all exons and flanking intronic sequences, was sequenced in all patients. Phenotype data were obtained from clinical history and examination, fundus photography, infrared imaging, fundus autofluorescence, fluorescein angiography, and spectral domain-optical coherence tomography. Additional functional data were obtained using the full-field electroretinogram, and static or kinetic perimetry. RESULTS. We evaluated 12 patients homozygous for the G1961E mutation. All patients had evidence of retinal pathology consistent with the range of phenotypes observed in ABCA4 disease. The latest age of onset was recorded at 64 years, in a patient diagnosed initially with age-related macular degeneration (AMD). Of 6 patients in whom severe structural (with/ without functional) fundus changes were detected, 5 had additional, heterozygous or homozygous, variants detected in the ABCA4 gene. CONCLUSIONS. Homozygous G1961E mutation in ABCA4 results in a range of retinal pathology. The phenotype usually is at the milder end of the disease spectrum, with severe phenotypes linked to the presence of additional ABCA4 variants. Our report also highlights that milder, late-onset Stargardt disease may be confused with AMD. (Invest Ophthalmol Vis Sci. 2012; 53:4458–4467) DOI:10.1167/iovs.11-9166

Published
2012
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44. Dynamic Drusen Remodelling in Participants of the Nutritional AMD Treatment-2 (NAT-2) Randomized Trial

Author

R. Theodore Smith, Heather Leisy, Nicole Pumariega, Giuseppe Querques, Bénédicte M. J. Merle, Alain Zourdani, Cécile Delcourt, Pascale Benlian, Michele D. Lee, Eric H. Souied, Querques, Giuseppe, Merle, Bmj, Pumariega, Nm, Benlian, P, Delcourt, C, Zourdani, A, Leisy, Hb, Lee, Md, Smith, Rt, and Souied, Eh

Subjects
Male, Heredity, genetic structures, Administration, Oral, lcsh:Medicine, Biochemistry, law.invention, Macular Degeneration, 0302 clinical medicine, Randomized controlled trial, law, Medicine and Health Sciences, Photography, Prospective Studies, Prospective cohort study, lcsh:Science, Aged, 80 and over, Multidisciplinary, medicine.diagnostic_test, Optic Disk Drusen, Retinal Degeneration, Fatty Acids, Middle Aged, Lipids, Genetic Mapping, Retinal Disorders, Female, Anatomy, Research Article, medicine.medical_specialty, Docosahexaenoic Acids, Imaging Techniques, Variant Genotypes, Drusen, Placebo, Research and Analysis Methods, 03 medical and health sciences, Double-Blind Method, Ocular System, Ophthalmology, medicine, Genetics, Humans, Aged, Evolutionary Biology, Population Biology, business.industry, lcsh:R, Fundus photography, Biology and Life Sciences, Human Genetics, Macular degeneration, medicine.disease, eye diseases, Surgery, Macular Disorders, 030221 ophthalmology & optometry, Genetic Polymorphism, Maculopathy, Eyes, lcsh:Q, sense organs, business, Head, 030217 neurology & neurosurgery, Population Genetics
Abstract

PURPOSE To evaluate the dynamic remodeling of drusen in subjects with unilateral neovascular age-related macular degeneration (AMD) receiving a three-year course of oral docosahexaenoic acid (DHA) or placebo. SETTING Institutional setting. METHODS Three hundred subjects with age-related maculopathy and neovascular AMD in the fellow eye were randomly assigned to receive either 840 mg/day DHA or placebo for 3 years. Main outcome measures of this post-hoc sub-group analysis were progression of drusen number, total diameter, and total area on fundus photography, and their association with DHA supplementation, socio-demographic and genetic characteristics. RESULTS Drusen progression was analyzed in 167 subjects that did not develop CNV (87 that received DHA and 80 that received placebo). None of the drusen remodeling outcomes were significantly associated with DHA supplementation. Total drusen diameter reduction in the inner subfield was significantly associated with age (older patients: r = -0.17; p = 0.003). Women showed a tendency to decreased total drusen diameter in the inner subfield with CFH polymorphism (p = 0.03), where women with TT genotype tended to have a greater reduction in drusen diameter than other genotypes (CC and CT). Drusen area in the inner subfield was more reduced in older patients (r = -0.17) and in women (p = 0.01). Drusen number showed no significant trends. CONCLUSIONS Dynamic drusen remodeling with net reduction in drusen load over three years was found in patients with exudative AMD in one eye and drusen in the other eye (study-eye). This reduction was correlated with increased age and female gender, and showed a tendency to be influenced by CFH genotype, but did not appear to be affected by DHA supplementation. TRIAL REGISTRATION Controlled-Trials.com ISRCTN98246501.

Published
2016

46. Personalised virtual reality in palliative care: clinically meaningful symptom improvement for some.

Author

Altman K, Saredakis D, Keage H, Hutchinson A, Corlis M, Smith RT, Crawford GB, and Loetscher T

Subjects
Humans, Female, Male, Aged, Middle Aged, Virtual Reality, Aged, 80 and over, Adult, Virtual Reality Exposure Therapy methods, Palliative Care methods, Quality of Life
Abstract

Objectives: This study examined the effects of virtual reality (VR) among palliative care patients at an acute ward. Objectives included evaluating VR therapy benefits across three sessions, assessing its differential impact on emotional versus physical symptoms and determining the proportion of patients experiencing clinically meaningful improvements after each session., Methods: A mixed-methods design was employed. Sixteen palliative inpatients completed three personalised 20 min VR sessions. Symptom burden was assessed using the Edmonton Symptom Assessment Scale-Revised and quality of life with the Functional Assessment of Chronic Illness Therapy (FACIT-Pal-14). Standardised criteria assessed clinically meaningful changes. Quantitative data were analysed using linear mixed models., Results: Quality of life improved significantly pre-VR to post-VR with a large effect size (Cohen's d: 0.98). Total symptom burden decreased after 20 min VR sessions (Cohen's d: 0.75), with similar effect sizes for emotional (Cohen's d: 0.67) and physical symptoms (Cohen's d: 0.63). Over 50% of patients experienced clinically meaningful improvements per session, though substantial individual variability occurred., Conclusions: This study reveals the nuanced efficacy of personalised VR therapy in palliative care, with over half of the patients experiencing meaningful benefits in emotional and physical symptoms. The marked variability in responses underscores the need for realistic expectations when implementing VR therapy., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2025. No commercial re-use. See rights and permissions. Published by BMJ Group.)

Published
2024
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47. Quantifying cardiac dysfunction and valvular heart disease associated with subretinal drusenoid deposits in age-related macular degeneration.

Author

Fei Y, Jo JJ, Chen S, Ledesma-Gil G, Otero-Marquez O, Mordechaev E, Le B, Tong Y, Tai K, Lema G, Rosen RB, Agarwal VV, and Smith RT

Subjects
Humans, Cross-Sectional Studies, Female, Male, Aged, Aged, 80 and over, Tomography, Optical Coherence methods, Multimodal Imaging, Fluorescein Angiography methods, Retinal Drusen diagnosis, Heart Valve Diseases complications, Heart Valve Diseases diagnosis, Heart Valve Diseases physiopathology, Echocardiography, Macular Degeneration diagnosis, Macular Degeneration complications, Macular Degeneration physiopathology
Abstract

Background/aims: Demonstrate through objective multidisciplinary imaging that subretinal drusenoid deposits (SDDs) in age-related macular degeneration (AMD) are linked to both coexistent valvular heart disease (VHD) and reduced systemic perfusion via cardiac index (CI)., Methods: Post-hoc analysis of cross-sectional study. 200 intermediate AMD (iAMD) subjects were assigned by masked readers to two groups: SDD (with or without drusen) and drusen (only) based on multimodal ophthalmic imaging. 65 transthoracic echocardiograms (TTEs) reports were available for cardiologist evaluation of VHD severity of the four cardiac valves and the presences of precursor lesions of aortic sclerosis (ASc) and mitral annular calcification (MAC). Necessary parameters to calculate CI were also obtained. Univariate testing was performed using Fisher's Exact test and t-test., Results: 82.6% (19/23) of the iAMD subjects with at least one moderate/severe VHD had concurrent SDDs ( p  = 0.0040). All cases of aortic regurgitation (6/6, p  = 0.0370) and mitral regurgitation (13/13, p  = 0.0004) were found with coexisting SDDs. Stenotic VHD was not significantly associated with SDDs, however 70.7% of subjects with ASc (29/41, p  = 0.0108) and 76.0% of subjects with MAC (19/25, 0.0377) had coexisting SDDs. CI was available in 48 subjects and was significantly below normal levels in the SDD cohort (mean CI SDD 1.95 ± 0.60 L/min/m 2 , non-SDD 2.71 ± 0.73 L/min/m 2 , p  = 0.0004)., Conclusions: Several specific VHDs have been found associated with the SDD form of AMD. Decreased systemic perfusion as measured by CI was also associated with SDDs, which supports a perfusion hypothesis of SDD pathogenesis. Further research is warranted to understand the relationship between cardiovascular disease and SDDs., Competing Interests: Declaration of conflicting interestsThe authors declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: RBR is a consultant to OptoVue, Boehringer-Ingelheim, Astellas, Genentech-Roche, NanoRetina, OD-OS, Regeneron, Bayer, Diopsys, and Teva. He has personal financial interests in Opticology, Guardion, and CellView. The remaining authors have no relevant disclosures.

Published
2024
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48. Anion Exchange and Lateral Heterostructure Formation in Ferromagnetic PEA 2 Cr(Cl,Br) 4 Two-Dimensional Perovskites.

Author

Walsh KM, Smith RT, and Gamelin DR

Abstract

Postsynthetic vapor-phase anion exchange in the ferromagnetic two-dimensional (2D) hybrid metal-halide perovskite, PEA 2 CrCl 4 (PEA + = phenethylammonium), is reported. Anion exchange using vaporous trimethylsilyl bromide (TMS-Br) is shown to drive complete conversion of solution-processed PEA 2 CrCl 4 polycrystalline thin films to PEA 2 CrBr 4 . Low-temperature magnetic circular dichroism spectroscopy indicates ferromagnetic ordering in these PEA 2 CrCl 4 and PEA 2 CrBr 4 films. Via partial anion exchange of exfoliated flakes of PEA 2 CrCl 4 single crystals, we demonstrate that it is possible to generate abrupt lateral PEA 2 CrCl 4 /PEA 2 CrBr 4 magneto-heterointerfaces. Kinetic studies reveal that lateral heterostructure formation is dictated by rapid edge-site halide exchange followed by slower intralayer bromide diffusion, and there is negligible interlayer (3D) bromide or TMS-Br diffusion. The importance of the bulky PEA + interlayer cation in suppressing 3D diffusion is highlighted by parallel anion-exchange experiments on MA 2 CrCl 4 (MA + = methylammonium), which instead show 3D exchange. Comparison of anion-exchange reactions in PEA 2 CrCl 4 , PEA 2 MnCl 4 , and PEA 2 PbCl 4 shows that 2D bromide diffusion is slowest in PEA 2 CrCl 4 , attributed to the antiferrodistortive ordering found in this composition. In addition to demonstrating both postsynthetic composition control and heterostructure formation in ferromagnetic Cr-based 2D perovskites for the first time, these results also advance our fundamental understanding of ion-exchange processes in this relatively unexplored family of 2D perovskites, broadening opportunities for investigation and control of novel spin effects in low-dimensional metal-halide perovskites.

Published
2024
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49. Hyperspectral retinal imaging in Alzheimer's disease and age-related macular degeneration: a review.

Author

Du X, Park J, Zhao R, Smith RT, Koronyo Y, Koronyo-Hamaoui M, and Gao L

Subjects
Humans, Hyperspectral Imaging methods, Animals, Alzheimer Disease diagnostic imaging, Alzheimer Disease pathology, Retina diagnostic imaging, Retina pathology, Macular Degeneration diagnostic imaging, Macular Degeneration pathology
Abstract

While Alzheimer's disease and other neurodegenerative diseases have traditionally been viewed as brain disorders, there is growing evidence indicating their manifestation in the eyes as well. The retina, being a developmental extension of the brain, represents the only part of the central nervous system that can be noninvasively imaged at a high spatial resolution. The discovery of the specific pathological hallmarks of Alzheimer's disease in the retina of patients holds great promise for disease diagnosis and monitoring, particularly in the early stages where disease progression can potentially be slowed. Among various retinal imaging methods, hyperspectral imaging has garnered significant attention in this field. It offers a label-free approach to detect disease biomarkers, making it especially valuable for large-scale population screening efforts. In this review, we discuss recent advances in the field and outline the current bottlenecks and enabling technologies that could propel this field toward clinical translation., (© 2024. The Author(s).)

Published
2024
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50. Smart Pipette: Elevating Laboratory Performance with Tactile Authenticity and Real-Time Feedback.

Author

Pieschacon JM, Costabile M, Cunningham A, Zucco J, Von Itzstein S, and Smith RT

Abstract

Mastering the correct use of laboratory equipment is a fundamental skill for undergraduate science students involved in laboratory-based training. However, hands-on laboratory time is often limited, and remote students may struggle as their absence from the physical lab limits their skill development. An air-displacement micropipette was selected for our initial investigation, as accuracy and correct technique are essential in generating reliable assay data. Handling small liquid volumes demands hand dexterity and practice to achieve proficiency. This research assesses the importance of tactile authenticity during training by faithfully replicating the micropipette's key physical and operational characteristics. We developed a custom haptic training approach called 'Smart Pipette' which promotes accurate operation and enhances laboratory dexterity training. A comparative user study with 34 participants evaluated the effectiveness of the Smart Pipette custom haptic device against training with off-the-shelf hardware, specifically the Quest VR hand controller, which was chosen because it is held mid-air similar to a laboratory micropipette. Both training conditions are integrated with the same self-paced virtual simulation displayed on a computer screen, offering clear video instructions and realtime guidance. Results demonstrated that participants trained with the Smart Pipette custom haptic exhibited increased accuracy and precision while making fewer errors than those trained with off-the-shelf hardware. The Smart Pipette and the Quest VR controller had no significant differences in cognitive load and system usability scores. Tactile authentic interaction devices address challenges faced by online learners, while their applicability extends to traditional classrooms, where real-time feedback significantly enhances overall training performance outcomes.

Published
2024
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