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1.
Indian J Ophthalmol ; 71(8): 2995-3000, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37530271

RESUMO

Purpose: Early detection of sight-threatening disorders by technological applications like teleophthalmology and prompt treatment can help decrease visual impairment. This study evaluated the role of teleophthalmology in underserved rural areas along with cost-saving estimates for the end user. Methods: A prospective, observational, cross-sectional hospital-based study was conducted over 3 months. First 1000 teleconsultations were included. None of the patients denied providing informed consent. The patients were consulted at the eight vision centers and three satellite centers of the hospital in the nearby rural and tribal regions closer to their residential places. These vision and satellite centers were connected to the base hospital like a hub and spoke model with a teleophthalmology network. Results: Cataract (n = 301, 30.1%) and refractive error (n = 290, 29%) were the most common diagnosis. 42.1% of patients were referred to base hospital for further evaluation. Thus, a total of 57.9% of patients were not required to visit the base hospital for initial consultation, saving time and money. Furthermore, 15.1% of patients were provided medical treatment at the vision center and satellite center, which helped in making teleophthalmology cost-saving for the patients. An average of Rs. 621/- were saved per patient for the community in our study. Conclusion: Networked teleophthalmology model can be an affordable and feasible tool for providing eye care delivery services in rural and tribal regions of Gujarat and the whole country, especially for the end user. Thus, it may be a workable model in ophthalmology practice with substantial cost saving to the community.


Assuntos
Oftalmologia , Consulta Remota , Telemedicina , Humanos , Estudos Transversais , Estudos Prospectivos
2.
Optom Vis Sci ; 99(7): 560-567, 2022 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-35446302

RESUMO

SIGNIFICANCE: The article highlights various topographic patterns and their prevalence in a large spectrum of ectatic corneal diseases (ECDs). Knowledge of these patterns can help clinicians for quicker diagnosis and selection of appropriate contact lens design. PURPOSE: This study aimed to determine various corneal topography patterns and their prevalence in patients with ECDs who visited a tertiary eye hospital in western India. METHODS: Keratoconus, pellucid marginal degeneration, keratoglobus, and post-refractive surgery progressive corneal ectasia are considered under ECDs. This cross-sectional retrospective study reviewed records of 632 consecutive patients with clinical ECDs at their first presentation. The right eye was considered for pattern analysis. In cases with suspected or forme fruste ectasia in the right eye, the fellow eye was considered. A sagittal map with standard scale of Atlas 9000 topographer (Carl Zeiss Meditec AG, Jena, Germany) was used for pattern analysis. They were classified into 18 categories and grouped under five groups. The prevalence of these patterns was calculated and assessed with 95% confidence interval (CI). RESULTS: The mean ± SD age of patients was 23.6 ± 8.2 years. The highest prevalence was of asymmetric patterns (39.6% [95% CI, 35.7 to 43.5%]; asymmetric bowtie [AB] with steepest radial axis index [SRAX], 18.8%; AB with inferior steep, 16.0%; AB with superior steep [SS], 3.2%; symmetric bowtie with SRAX, 1.6%) and of central or paracentral patterns (28.6% [95% CI, 25.1 to 32.3%]; inferior steep, 12.2%; heart, 7.4%; oval, 4.1%; symmetric bowtie, 2.4%; round, 1.6%; irregular, 0.9%) followed by advanced patterns (17.3% [95% CI, 14.4 to 20.4%; nonmeasurable, 5.4%; globus, 4.9%; indiscriminate, 7.0%). The peripheral patterns were 11.7% (95% CI, 9.3 to 14.4%) (claw, 6.3%; junctional, 3.2%; butterfly, 1.9%; SS, 0.3%). Rare patterns were 2.8% (95% CI, 1.7 to 4.5%) (superior [junctional, claw, and heart], AB with SS with SRAX, and AB with SRAX located temporally). CONCLUSIONS: Asymmetric and central or paracentral are the most common patterns in our study. The higher prevalence of advanced patterns indicates the need for earlier diagnosis of ECDs in our population. The peripheral patterns also have significant prevalence.


Assuntos
Doenças da Córnea , Ceratocone , Adolescente , Adulto , Córnea , Doenças da Córnea/diagnóstico , Doenças da Córnea/epidemiologia , Topografia da Córnea , Estudos Transversais , Dilatação Patológica/epidemiologia , Humanos , Ceratocone/diagnóstico , Ceratocone/epidemiologia , Prevalência , Estudos Retrospectivos , Adulto Jovem
3.
Nat Genet ; 53(3): 294-303, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33589841

RESUMO

The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.


Assuntos
Estudo de Associação Genômica Ampla , Doença por Corpos de Lewy/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Doença de Alzheimer/genética , Estudos de Casos e Controles , Perfilação da Expressão Gênica , Predisposição Genética para Doença , Genoma Humano , Glucosilceramidase/genética , Humanos , Proteínas Nucleares/genética , Doença de Parkinson/genética , Polimorfismo de Nucleotídeo Único , Proteínas Supressoras de Tumor/genética , alfa-Sinucleína/genética
4.
Middle East Afr J Ophthalmol ; 27(3): 156-159, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33488011

RESUMO

PURPOSE: To report the prevalence of keratoconus (KCN) in patients presenting for refractive surgery in western India. METHODS: A cross-sectional, observational, retrospective study performed at a tertiary eye care center. A total of 2902 cases, aged 18-40 years who presented in the refractive surgery department between January 2014 and December 2018 were included. Records of all the included cases were reviewed. Patients showing KCN pattern on topography were noted and divided into KCN and KCN suspects. Annual and overall 5-year prevalence were calculated at 95% confidence interval (CI). Demographic details of KCN and non-KCN participants were compared. RESULTS: Of the 2902 cases, 25 (0.86%) had clinical KCN and 22 (0.76%) were KCN suspects. The combined 5-year prevalence of all these 47 KCN cases was 1.61% (95% CI: 1.15%-2.07%), with an annual prevalence range of 0.97%-2.43%. The mean age of non-KCN cases was 24.60 ± 4.91 years and KCN cases was 24.62 ± 5.37 years (P = 0.98). Among the KCN cases, there were more females (30; 63.83%), and the gender ratio was significantly different than non-KCN cases (P = 0.004). CONCLUSION: The prevalence of KCN in refractive surgery cases was 1.61% which is higher than those found in the western population and lower than those found in the Middle East (Saudi Arabia and Iran). Furthermore, topographic examination performed during the routine screening of patients for refractive surgery can be a useful tool to diagnose new cases of KCN in asymptomatic patients.


Assuntos
Ceratocone/epidemiologia , Procedimentos Cirúrgicos Refrativos/estatística & dados numéricos , Adolescente , Adulto , Topografia da Córnea , Estudos Transversais , Feminino , Humanos , Índia/epidemiologia , Ceratocone/diagnóstico , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Adulto Jovem
5.
J Neurosci ; 35(28): 10357-70, 2015 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-26180210

RESUMO

Although intra-axonal protein synthesis is well recognized in cultured neurons and during development in vivo, there have been few reports of mRNA localization and/or intra-axonal translation in mature CNS axons. Indeed, previous work indicated that mature CNS axons contain much lower quantities of translational machinery than PNS axons, leading to the conclusion that the capacity for intra-axonal protein synthesis is linked to the intrinsic capacity of a neuron for regeneration, with mature CNS neurons showing much less growth after injury than PNS neurons. However, when regeneration by CNS axons is facilitated, it is not known whether the intra-axonal content of translational machinery changes or whether mRNAs localize into these axons. Here, we have used a peripheral nerve segment grafted into the transected spinal cord of adult rats as a supportive environment for regeneration by ascending spinal axons. By quantitative fluorescent in situ hybridization combined with immunofluorescence to unambiguously distinguish intra-axonal mRNAs, we show that regenerating spinal cord axons contain ß-actin, GAP-43, Neuritin, Reg3a, Hamp, and Importin ß1 mRNAs. These axons also contain 5S rRNA, phosphorylated S6 ribosomal protein, eIF2α translation factor, and 4EBP1 translation factor inhibitory protein. Different levels of these mRNAs in CNS axons from regenerating PNS axons may relate to differences in the growth capacity of these neurons, although the presence of mRNA transport and likely local translation in both CNS and PNS neurons suggests an active role in the regenerative process. SIGNIFICANCE STATEMENT: Although peripheral nerve axons retain the capacity to locally synthesize proteins into adulthood, previous studies have argued that mature brain and spinal cord axons cannot synthesize proteins. Protein synthesis in peripheral nerve axons is increased during regeneration, and intra-axonally synthesized proteins have been shown to contribute to nerve regeneration. Here, we show that mRNAs and translational machinery are transported into axons regenerating from the spinal cord into the permissive environment of a peripheral nerve graft. Our data raise the possibility that spinal cord axons may make use of localized protein synthesis for regeneration.


Assuntos
Axônios/metabolismo , Regeneração Nervosa/fisiologia , Iniciação Traducional da Cadeia Peptídica/fisiologia , Biossíntese de Proteínas/fisiologia , RNA Mensageiro/metabolismo , Medula Espinal/fisiopatologia , Animais , Antígenos de Neoplasias/genética , Antígenos de Neoplasias/metabolismo , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Células Cultivadas , Modelos Animais de Doenças , Feminino , Gânglios Espinais/citologia , Hepcidinas/genética , Hepcidinas/metabolismo , Lectinas Tipo C/genética , Lectinas Tipo C/metabolismo , Masculino , Proteínas Associadas a Pancreatite , Iniciação Traducional da Cadeia Peptídica/genética , Traumatismos dos Nervos Periféricos/patologia , Ratos , Ratos Sprague-Dawley , Células Receptoras Sensoriais/metabolismo , Células Receptoras Sensoriais/patologia , Traumatismos da Medula Espinal/patologia
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