RESUMEN
BACKGROUND: The intersection between health, disability and transport has significant practical challenges for people with a disability living in low- and middle-income countries (LMICs), where road infrastructure is poor and travel unsafe. Lack of transport access to health, education, employment and other services impedes achievement of the Sustainable Development Goals and affects quality of life. The Journey Access Tool (JAT) combines access audit and road safety audit approaches to identify barriers to transport on journeys taken by people with a disability. To be useful and effective, it must fit the expectations of people with a disability (be acceptable) and be feasible for use in different settings (adoptable). Accordingly, a formative evaluation process was undertaken in Phnom Penh, Cambodia. OBJECTIVES: To undertake a formative evaluation of the JAT using an iterative process to tailor the tool, pilot its use by people with a disability, and develop a template for its implementation in other LMICs. METHODS: An iterative process of consultation and three pilots was undertaken. Participants were people with a disability who undertook journeys with a public transport component accompanied by assistants. Focus groups were held after each pilot, and results were integrated into JAT revisions. RESULTS: Issues of terminology were resolved early, as were process issues related to the length of time taken to complete the JAT. Interpersonal issues were more difficult to address, with assistants tending to exceed their role and record their own comments. Use of the tool provided rich information on barriers. CONCLUSIONS: The JAT was both acceptable and adoptable for people with a disability and other stakeholders, and the experience gained will facilitate adaptation of the tool to new settings. The tool has significant potential to shape and support advocacy for change and engagement with transport services and also health, education, employment and other services.
Asunto(s)
Países en Desarrollo , Personas con Discapacidad , Transportes/normas , Cambodia , Empleo/organización & administración , Planificación Ambiental , Femenino , Accesibilidad a los Servicios de Salud/organización & administración , Humanos , Calidad de VidaRESUMEN
PURPOSE: To report a case of corneal copper deposition associated with chronic lymphocytic leukemia (CLL). DESIGN: Case report. METHODS: A 65-year-old woman with a history of CLL was diagnosed with bilateral corneal opacification. Slit-lamp examination revealed dense, central yellow-brown pigmentation of Descemet's membrane in each cornea. The presence of a bilateral pigmented deposition at the level of Descemet's membrane led to a presumptive clinical diagnosis of corneal copper deposition. RESULTS: Serologic investigations revealed a markedly elevated copper (hypercupremia) and IgG levels with a normal ceruloplasmin. Wilson's disease was excluded as a possible cause based on liver function tests and a liver biopsy. Thus, the patient was diagnosed with corneal copper deposition secondary to hypercupremia associated with CLL. CONCLUSIONS: Corneal copper deposition may be associated with systemic malignancy, most commonly myeloproliferative disorders, including CLL. Recognition of the characteristic clinical features associated with corneal copper deposition allows the clinician to confirm the diagnosis with appropriate serologic studies.
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Cobre/metabolismo , Opacidad de la Córnea/metabolismo , Lámina Limitante Posterior/metabolismo , Leucemia Linfocítica Crónica de Células B/metabolismo , Anciano , Ceruloplasmina/análisis , Opacidad de la Córnea/diagnóstico , Lámina Limitante Posterior/patología , Femenino , Humanos , Leucemia Linfocítica Crónica de Células B/diagnóstico , Microscopía Confocal , Trastornos de la Visión/diagnósticoRESUMEN
PURPOSE: We report the occurrence and outcome of a severe late-onset traumatic dislocation of a laser in situ keratomileusis (LASIK) flap with loss of central flap tissue. METHODS: Case report. RESULTS: A 40-year-old woman underwent uncomplicated bilateral LASIK surgery, followed 5 years later by an enhancement procedure in both eyes. Ocular trauma with a power sander occurred 6 years after LASIK and 1 year after the enhancement procedure. The flap was found to have an almost complete tear from the nasal hinge and a central tissue defect. After irrigating, repositioning, and stabilizing the flap with 2 nylon sutures, a bandage contact lens was placed. The patient was treated with topical antibiotic and steroid drops. Stage 2 diffuse lamellar keratitis developed, which responded to topical treatment. Ten weeks after injury, the patient regained an uncorrected visual acuity of 20/20-1. CONCLUSION: Late-onset trauma to the LASIK flap can result in flap dehiscence and tissue loss. Prompt and appropriate management can lead to an excellent visual outcome even in severely traumatized dislocated LASIK flaps.
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Sustancia Propia/lesiones , Lesiones Oculares/etiología , Queratomileusis por Láser In Situ , Colgajos Quirúrgicos , Dehiscencia de la Herida Operatoria/etiología , Heridas no Penetrantes/etiología , Adulto , Topografía de la Córnea , Lesiones Oculares/cirugía , Femenino , Glucocorticoides/uso terapéutico , Humanos , Queratitis/tratamiento farmacológico , Queratitis/etiología , Reoperación , Dehiscencia de la Herida Operatoria/cirugía , Técnicas de Sutura , Heridas no Penetrantes/cirugíaRESUMEN
PURPOSE: To determine whether primary, polymorphic, corneal amyloid deposition is associated with a mutation of the TGFBI gene. METHODS: Interventional case series of 8 patients. Slit lamp examination of all patients and photodocumentation of 5 patients were performed. Genomic DNA was isolated from buccal mucosal swabs obtained from all patients and all 17 exons of the TGFBI gene were amplified and sequenced. RESULTS: Multiple polymorphic, refractile deposits were noted throughout the central corneal stroma in all patients. The deposits appeared gray-white on direct illumination and translucent on retroillumination, characteristic of amyloid. In 2 patients, linear, branching opacities, reminiscent of lattice corneal dystrophy, were identified. Histopathologic examination confirmed the presence of stromal amyloid in the cornea of 1 patient who required corneal transplantation for pseudophakic corneal edema. Screening of the entire coding region of the TGFBI gene revealed 4 previously described synonymous substitutions, Leu217Leu, Val327Val, Leu472Leu, and Phe540Phe. A previously unreported missense change, Asp299Asn, was identified in one affected patient but not in her affected sister. No pathogenic mutations, including the Ala546Asp missense mutation previously associated with polymorphic corneal amyloidosis, were identified in any of the patients. CONCLUSIONS: TGFBI gene mutations were not identified in a series of patients with polymorphic corneal amyloid deposition. As bilateral, discrete stromal amyloid deposits may be dystrophic or degenerative, differentiation between these phenotypically similar conditions is facilitated with the use of molecular genetic analysis.
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Amiloide/metabolismo , Amiloidosis Familiar/genética , Enfermedades de la Córnea/genética , Sustancia Propia/metabolismo , Proteínas de la Matriz Extracelular/genética , Mutación , Factor de Crecimiento Transformador beta/genética , Anciano , Anciano de 80 o más Años , Amiloidosis Familiar/metabolismo , Amiloidosis Familiar/patología , Enfermedades de la Córnea/metabolismo , Enfermedades de la Córnea/patología , Sustancia Propia/patología , Análisis Mutacional de ADN , Femenino , Humanos , Persona de Mediana Edad , Reacción en Cadena de la PolimerasaRESUMEN
PURPOSE: To report a unique corneal dystrophy characterized by deposits at Bowman's layer and stromal lattice lines associated with the Gly623Asp missense mutation in the transforming growth factor beta-induced (TGFBI) gene. DESIGN: Experimental study. PARTICIPANTS AND CONTROLS: The proband, 3 affected siblings, 4 unaffected relatives, and 100 control individuals. METHODS: Slit-lamp examination, photographic documentation, and isolation of genomic DNA from buccal mucosal swabs obtained from each family member examined. Exons 4 and 11 to 14 of the TGFBI gene were amplified and sequenced in these family members and in control individuals. MAIN OUTCOME MEASURES: Clinical characteristics of corneal opacification in affected patients and presence of coding region changes in the TGFBI gene. RESULTS: Significant phenotypic variability, including polymorphic Bowman's layer opacities and stromal lattice lines, was noted in the 4 affected siblings who were examined. Screening of TGFBI exon 14 in the proband, 3 affected siblings, and a 19-year-old unaffected relative revealed a missense change, Gly623Asp, that was absent in the other 3 unaffected relatives screened and in 200 control chromosomes. CONCLUSIONS: We report a novel corneal dystrophy phenotype secondary to the Gly623Asp mutation in the TGFBI gene that is associated with clinical features of both lattice corneal dystrophy and a Bowman's layer dystrophy. The presence of clinical features considered atypical for a TGFBI-associated dystrophy in this pedigree, as well as the wide range of phenotypic expressions of the Gly623Asp mutation in affected members, underscore the clinical utility of molecular genetic analysis in the diagnosis of suspected corneal dystrophies.
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Membrana Basal/patología , Distrofias Hereditarias de la Córnea/genética , Sustancia Propia/patología , Proteínas de la Matriz Extracelular/genética , Mutación Missense , Factor de Crecimiento Transformador beta/genética , Adulto , Anciano , Niño , Distrofias Hereditarias de la Córnea/patología , Análisis Mutacional de ADN , Femenino , Amplificación de Genes , Humanos , Masculino , Persona de Mediana Edad , Linaje , Reacción en Cadena de la Polimerasa , Agudeza VisualRESUMEN
The susceptibility of rainbow trout Oncorhynchus mykiss to infection with various isolates of viral haemorrhagic septicaemia virus (VHSV) was examined. A total of 8 experiments with rainbow trout ranging from 0.6 to 6.2 g was conducted for 139 isolates originating from wild marine fishes in European waters (115 isolates), farmed turbot from Scotland and Ireland (2 isolates), and farmed rainbow trout (22 isolates). The isolates were tested by immersion and/or intraperitoneal injection either as pooled or single isolates. The isolates from wild marine fishes did not cause mortality by immersion while some of the isolates caused mortality when injected. All VHSV isolates from farmed rainbow trout caused significant mortality by immersion. Currently, pathogenicity trials are the only way to differentiate VHSV isolates from wild marine fishes and farmed rainbow trout. The 2 farmed turbot isolates did not cause mortality by immersion, supporting the view that they originated from the marine environment.