9 results on '"Mahajan VB"'
Search Results
2. Reply to Comment on: Sex Differences in the Repair of Retinal Detachments in the United States.
- Author
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Callaway NF, Vail D, Al-Moujahed A, Ludwig C, Ji MH, Mahajan VB, Pershing S, and Moshfeghi DM
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- Female, Humans, Male, Scleral Buckling, Sex Characteristics, United States epidemiology, Vitrectomy, Retinal Detachment surgery
- Published
- 2021
- Full Text
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3. Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.
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Li AS, Velez G, Darbro B, Toral MA, Yang J, Tsang SH, Ferguson PJ, Folk JC, Bassuk AG, and Mahajan VB
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- Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Female, Genetic Association Studies, Humans, Inflammasomes metabolism, Male, Middle Aged, Mutation, Missense, Proteomics, Uveitis, Posterior metabolism, Calpain genetics, NLR Proteins genetics, TYK2 Kinase genetics, Uveitis, Posterior genetics, Exome Sequencing
- Abstract
Objective: To elucidate molecular risk factors for posterior segment uveitis using a functional genomics approach., Design: Genetic association cohort study., Methods: Setting: Single-center study at an academic referral center., Study Population: 164 patients with clinically diagnosed uveitis of the posterior segment., Main Outcome Measures: Exome sequencing was used to detect variants identified in 164 patients with posterior segment uveitis. A phenotype-driven analysis, protein structural modeling, and in silico calculations were then used to rank and predict the functional consequences of key variants., Results: A total of 203 single nucleotide variants, in 23 genes across 164 patients, were included in this study. Both known and novel variants were identified in genes previously implicated in specific types of syndromic uveitis-such as NOD2 (Blau syndrome) and CAPN5 NIV (neovascular inflammatory vitreoretinopathy)-as well as variants in genes not previously linked to posterior segment uveitis. Based on a ranked list and protein-protein-interaction network, missense variants in NOD-like receptor family genes (NOD2, NLRC4, NLRP3, and NLRP1), CAPN5, and TYK2 were characterized via structural modeling and in silico calculations to predict how specific variants might alter protein structure and function. The majority of analyzed variants were notably different from wild type., Conclusions: This study implicates new pathways and immune signaling proteins that may be associated with posterior segment uveitis susceptibility. A larger cohort and functional studies will help validate the pathogenicity of the mutations identified. In specific cases, whole-exome sequencing can help diagnose nonsyndromic uveitis in patients harboring known variants for syndromic inflammatory diseases., (Published by Elsevier Inc.)
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- 2021
- Full Text
- View/download PDF
4. Sex Differences in the Repair of Retinal Detachments in the United States.
- Author
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Callaway NF, Vail D, Al-Moujahed A, Ludwig C, Ji MH, Mahajan VB, Pershing S, and Moshfeghi DM
- Subjects
- Adult, Aged, Databases, Factual statistics & numerical data, Female, Humans, Male, Middle Aged, Odds Ratio, Reoperation statistics & numerical data, Retinal Detachment epidemiology, Retinal Detachment physiopathology, Retrospective Studies, Sex Factors, Treatment Outcome, United States epidemiology, Visual Acuity, Cryosurgery, Healthcare Disparities statistics & numerical data, Retinal Detachment surgery, Scleral Buckling, Vitrectomy
- Abstract
Purpose: To investigate differences between women and men in the repair of rhegmatogenous retinal detachments (RRDs) in the United States., Design: Retrospective cohort study., Methods: Setting: A large insurance claims database., Participants: Subjects with an incident RRD between 2007 and 2015., Data: Demographic data, comorbid ocular conditions associated with RRD, systemic comorbidities, and surgical intervention (pneumatic retinopexy [PR], pars plana vitrectomy [PPV], laser barricade, or scleral buckle [SB]) were collected., Main Outcome Measures: Odds of receipt of surgical intervention for incident RRD, time to repair, type of intervention, and the rate of reoperation by sex., Results: The study period included 133 million eligible records with 61,071 cases of incident RRD among which 43% (n = 26,289) were women. The primary outcome model had 23,933 confirmed RRD cases with a 93% retinal detachment repair rate. Women had 34% reduced odds of receipt of surgical repair of an RRD (odds ratio [OR] 0.66, 95% confidence interval [CI] 0.59, 0.73; P < .001) after adjusting for confounders. This effect persisted in all sensitivity models. Among patients who received repair, women were more often delayed (0.17 days, P = .04). Women were more likely to undergo primary laser barricade (relative risk ratio [RRR] 1.68, P < .001), primary SB (RRR 1.15, P < .001), and PR (RRR 1.07, P < .04) than men. The odds of reoperation were lower in women (OR 0.91, 95% CI 0.85, 0.96; P = .002) after adjustment., Conclusions: Insured women are less likely than insured men to receive surgical intervention for an RRD. Based on the results of this study, if the odds of repair were equal between women and men in the United States, then 781 more women would receive surgery each year, or 7,029 more during the study period. Women are more likely to have the repair performed with scleral buckle, laser barricade, and pneumatic retinopexy. The reason for these sex differences in RRD repair remains unknown and requires further investigation., (Copyright © 2020 Elsevier Inc. All rights reserved.)
- Published
- 2020
- Full Text
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5. Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.
- Author
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Oh JK, Ryu J, Lima de Carvalho JR Jr, Levi SR, Lee W, Tsamis E, Greenstein VC, Mahajan VB, Allikmets R, and Tsang SH
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- Adolescent, Adult, Aged, Calcium-Binding Proteins genetics, Child, Color Vision Defects physiopathology, Cone-Rod Dystrophies physiopathology, Disease Progression, Electroretinography, Female, Humans, Macular Degeneration physiopathology, Male, Membrane Proteins genetics, Middle Aged, Phenotype, Retina physiopathology, Retinitis Pigmentosa genetics, Retinitis Pigmentosa physiopathology, Retrospective Studies, Stargardt Disease physiopathology, Visual Acuity physiology, rab GTP-Binding Proteins genetics, Biomarkers, Color Vision Defects diagnostic imaging, Cone-Rod Dystrophies diagnostic imaging, Macular Degeneration diagnostic imaging, Retinitis Pigmentosa diagnostic imaging, Stargardt Disease diagnostic imaging, Tomography, Optical Coherence
- Abstract
Purpose: To characterize the progression of optical gaps and expand the known etiologies of this phenotype., Design: Retrospective cohort study., Methods: Thirty-six patients were selected based on the identification of an optical gap on spectral-domain optical coherence tomography (OCT) from a large cohort of patients (N = 746) with confirmed diagnoses of inherited retinal dystrophy. The width and height of the gaps in 70 eyes of 36 patients were measured by 2 independent graders using the caliper tool on Heidelberg Explorer. Measurements of outer and central retinal thickness were also evaluated and correlated with gap dimensions., Results: Longitudinal analysis confirmed the progressive nature of optical gaps in patients with Stargardt disease, achromatopsia, occult macular dystrophy, and cone dystrophies (P < .003). Larger changes in gap width were noted in patients with Stargardt disease (78.1 μm/year) and cone dystrophies (31.9 μm/year) compared with patients with achromatopsia (16.2 μm/year) and occult macular dystrophy (15.4 μm/year). Gap height decreased in patients with Stargardt disease (6.5 μm/year; P = .02) but increased in patients with achromatopsia (3.3 μm/year) and occult macular dystrophy (1.2 μm/year). Gap height correlated with measurements of central retinal thickness at the fovea (r = 0.782, P = .00012). Interocular discordance of the gap was observed in 7 patients. Finally, a review of all currently described etiologies of optical gap was summarized., Conclusion: The optical gap is a progressive phenotype seen in an increasing number of etiologies. This progressive nature suggests a use as a biomarker in the understanding of disease progression. Interocular discordance of the phenotype may be a feature of Stargardt disease and cone dystrophies., (Copyright © 2020 Elsevier Inc. All rights reserved.)
- Published
- 2020
- Full Text
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6. Rates of Bone Spicule Pigment Appearance in Patients With Retinitis Pigmentosa Sine Pigmento.
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Takahashi VKL, Takiuti JT, Jauregui R, Mahajan VB, and Tsang SH
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- Adolescent, Adult, Child, Disease Progression, Electroretinography, Female, Humans, Male, Middle Aged, Ophthalmoscopy, Optical Imaging, Pigmentation, Retrospective Studies, Tomography, Optical Coherence, Visual Acuity physiology, Young Adult, Biomarkers, Pigment Epithelium of Eye pathology, Retinitis Pigmentosa diagnosis
- Abstract
Purpose: To determine rate of bone spicule pigmentation appearance in patients with retinitis pigmentosa (RP)., Design: Retrospective, observational case series., Participants: A total of 240 patients were analyzed for this study., Methods: A retrospective analysis was conducted at the Electrodiagnostic Clinic at Columbia University Medical Center of all patients' medical records with a diagnosis of RP between July 2017 and January 2018. The medical records of these patients were analyzed to determine whether the patients presented with pigment migration on their first and last visit to our clinic. Among those who did not have bone spicule at first visit, we examined the time to appearance of newly formed bone spicule. The survival distribution was then estimated using the Kaplan-Meier estimator, where the event is bone spicule and time starts at first visit., Results: From the 240 patients analyzed, 213 patients presented with intraretinal pigmentation on the first visit to our clinic, and 27 patients presented without intraretinal pigmentation. Of these 27 patients, 10 patients developed pigmentation by their follow-up, with a median time to appearance of bone spicule of 5.4 years from first visit, according to the Kaplan-Meier estimates., Conclusions: The timeline of bone spicule pigment appearance in RP has important implications in the natural history characterization of disease progression and application as a biomarker for interventional trials., (Published by Elsevier Inc.)
- Published
- 2018
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7. Personalized Proteomics in Proliferative Vitreoretinopathy Implicate Hematopoietic Cell Recruitment and mTOR as a Therapeutic Target.
- Author
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Roybal CN, Velez G, Toral MA, Tsang SH, Bassuk AG, and Mahajan VB
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- Biopsy, Case-Control Studies, Female, Follow-Up Studies, Humans, Male, Prospective Studies, Vitreoretinopathy, Proliferative pathology, Vitreoretinopathy, Proliferative surgery, Vitreous Body pathology, Vitreous Body surgery, Cytokines biosynthesis, Proteomics methods, TOR Serine-Threonine Kinases biosynthesis, Vitrectomy, Vitreoretinopathy, Proliferative metabolism, Vitreous Body metabolism
- Abstract
Purpose: To profile vitreous cytokine expression of proliferative vitreoretinopathy (PVR) patients., Design: Case-control study., Methods: Liquid biopsies were collected from 2 groups: control subjects (n = 3) undergoing pars plana vitrectomy to remove an epiretinal membrane (ERM), and test subjects (n = 7) with varying degrees of PVR. A high-throughput cytokine screen measured expression of 200 cytokines. Cytokine expression patterns were prospectively validated in separate cohorts of control patients and those with PVR-A, PVR-B, and PVR-C (n = 10 for each group). Expression changes were evaluated by analysis of variance (significant P value < .05), hierarchical cluster algorithm, and pathway analysis, to identify candidate pathways for prospective studies., Results: In PVR vitreous, 29 cytokines were upregulated compared to controls. Early PVR vitreous showed upregulation of T-cell markers, profibrotic cytokines, and cytokines downstream of mTOR activation (IL-2, IL-6, and IL-13), whereas in late PVR vitreous, cytokines driving monocyte responses and stem-cell recruitment (SDF-1) prevailed. Prospective validation confirmed the differential expression of specific cytokines from PVR-A to C., Conclusions: Early PVR is characterized by activation of T cells and mTOR signaling, whereas advanced PVR is characterized by a chronic monocyte response. PVR might be treated by rational repositioning of existing drugs that target mTOR and IL-6. Our analysis demonstrates that successful therapeutic intervention will be highly dependent on the specific therapeutic target and the stage of PVR. This study provides insights into cytokines that will serve as biomarkers and therapeutic targets. These biomarkers will help design clinical trials that intervene at appropriate times., (Copyright © 2017 Elsevier Inc. All rights reserved.)
- Published
- 2018
- Full Text
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8. Aflibercept therapy for exudative age-related macular degeneration resistant to bevacizumab and ranibizumab.
- Author
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Bakall B, Folk JC, Boldt HC, Sohn EH, Stone EM, Russell SR, and Mahajan VB
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- Aged, Aged, 80 and over, Bevacizumab, Drug Resistance, Drug Substitution, Exudates and Transudates, Female, Humans, Intravitreal Injections, Male, Middle Aged, Postoperative Complications, Ranibizumab, Retina pathology, Retreatment, Retrospective Studies, Subretinal Fluid metabolism, Tomography, Optical Coherence, Treatment Outcome, Visual Acuity physiology, Wet Macular Degeneration diagnosis, Wet Macular Degeneration physiopathology, Angiogenesis Inhibitors therapeutic use, Antibodies, Monoclonal, Humanized therapeutic use, Receptors, Vascular Endothelial Growth Factor therapeutic use, Recombinant Fusion Proteins therapeutic use, Vascular Endothelial Growth Factor A antagonists & inhibitors, Wet Macular Degeneration drug therapy
- Abstract
Purpose: To evaluate the outcome of intravitreal injection of aflibercept in cases with exudative age-related macular degeneration, (AMD) resistant to injections of bevacizumab or ranibizumab., Design: Retrospective observational case series., Methods: A retrospective chart review at a single institution was conducted to identify patients with exudative AMD and choroidal neovascularization (CNV) in 1 or both eyes resistant to treatment with ranibizumab or bevacizumab who were switched to treatment with at least 3 monthly injections of aflibercept. In total, 36 eyes from 31 patients were included. The demographic data, visual acuities, central macular thickness on optical coherence tomography (OCT), complications, and number of injections were reviewed., Results: The mean patient age was 79 years (range 60-88). There were 13 male and 18 female patients. The number of prior injections with either bevacizumab or ranibizumab ranged from 6-74. After 3 monthly injections of aflibercept, there was a reduction of either subretinal or intraretinal fluid in 18 of 36 (50.0%) of the treated eyes; the amount of fluid remained stable in 15 eyes (41.7%) and worsened in 3 eyes (8.3%). A significant average decrease was observed for the central macular thickness after 3 injections of 65 μm (P = 2.9 × 10(-6)), with no significant change in visual acuity., Conclusions: Aflibercept therapy appears to be beneficial in a subset of patients with neovascular age-related macular degeneration who exhibit recurrent or resistant intraretinal or subretinal fluid following multiple injections with either bevacizumab or ranibizumab., (Copyright © 2013 Elsevier Inc. All rights reserved.)
- Published
- 2013
- Full Text
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9. Infrared imaging and optical coherence tomography reveal early-stage astrocytic hamartomas not detectable by fundoscopy.
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Xu L, Burke TR, Greenberg JP, Mahajan VB, and Tsang SH
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- Adolescent, Child, Diagnostic Imaging, Female, Fluorescein Angiography, Humans, Male, Ophthalmoscopes, Prospective Studies, Astrocytes pathology, Infrared Rays, Retinal Neoplasms diagnosis, Tomography, Optical Coherence, Tuberous Sclerosis diagnosis
- Abstract
Purpose: To describe and correlate the features of astrocytic hamartomas using multimodal imaging., Design: Prospective, noncomparative, observational case series., Methods: This was a single-center study of 4 patients (8 eyes) with tuberous sclerosis complex. A complete ophthalmologic examination, fundus photography, fundus autofluorescence (FAF), infrared imaging, and spectral-domain optical coherence tomography (SD-OCT) were performed for each patient. Images from each modality were analyzed and compared., Results: In 2 patients, infrared imaging and SD-OCT detected occult retinal astrocytic hamartomas that were not observed on clinical examination or color fundus photography. FAF demonstrated the greatest contrast between lesions and surrounding retina but failed to identify 1 occult lesion that was detected with infrared imaging and SD-OCT. SD-OCT revealed lesions arising from the retinal nerve fiber layer with overlying vitreous adhesions, hyperreflective dots, and optically empty spaces at all depths of the tumor. Hamartomas were hyporeflective on infrared imaging and hypoautofluorescent on FAF. FAF of some lesions demonstrated hyperautofluorescent spots., Conclusions: Infrared imaging and SD-OCT aid in the detection of astrocytic hamartomas that are not visible on clinical examination or color fundus photography. SD-OCT enhances visualization of structural details. FAF is a useful adjunctive test to obtain greater contrast between lesions and surrounding retina. The ability to monitor structural changes over time in astrocytic hamartomas using SD-OCT may be beneficial for monitoring the success of systemic chemotherapy in the treatment of various tuberous sclerosis tumors., (Copyright © 2012 Elsevier Inc. All rights reserved.)
- Published
- 2012
- Full Text
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