RESUMEN
PURPOSE: Two mutations (R555Q and R124L) in the BIGH3 gene have been described in anterior or Bowman's layer dystrophies (CDB). The clinical, molecular, and ultrastructural findings of five families with CDB was reviewed to determine whether there is a consistent genotype:phenotype correlation. METHODS: Keratoplasty tissue from each patient was examined by light and electron microscopy (LM and EM). DNA was obtained, and exons 4 and 12 of BIGH3 were analyzed by polymerase chain reaction and single-stranded conformation polymorphism/heteroduplex analysis. Abnormally migrating products were analyzed by direct sequencing. RESULTS: In two families with type I CDB (CDBI), the R124L mutation was defined. There were light and ultrastructural features of superficial granular dystrophy and atypical banding of the "rod-shaped bodies" ultrastructurally. Patients from three families with "honeycomb" dystrophy were found to carry the R555Q mutation and had characteristic features of Bowman's dystrophy type II (CDBII). CONCLUSIONS: There is a strong genotype:phenotype correlation among CBDI (R124L) and CDBII (R555Q). LM and EM findings suggest that epithelial abnormalities may underlie the pathology of both conditions. The findings clarify the confusion over classification of the Bowman's layer dystrophies.
Asunto(s)
Distrofias Hereditarias de la Córnea/genética , Distrofias Hereditarias de la Córnea/patología , Epitelio Corneal/ultraestructura , Proteínas de la Matriz Extracelular , Mutación , Proteínas de Neoplasias/genética , Factor de Crecimiento Transformador beta/genética , Adulto , Membrana Basal/ultraestructura , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Humanos , Lactante , Queratoplastia Penetrante/patología , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Agudeza VisualRESUMEN
PURPOSE: To assess the efficacy, tolerance, and ocular tolerability of a fixed-dose combination of 0.1% diclofenac plus 0.3% tobramycin ophthalmic solution compared with 0.1% diclofenac (Voltaren) and 0.3% tobramycin (Tobrex) in patients undergoing cataract extraction by either nuclear expression (extracapsular) or ultrasound-assisted aspiration (phacoemulsification) with intraocular lens implantation. METHODS: Eighty-eight patients undergoing cataract extraction with intraocular lens implantation participated in a randomized, parallel, observer-masked trial, in which the clinical usefulness of a fixed-dose combination of 0.1% diclofenac plus 0.3% tobramycin ophthalmic solution, two eyedrops every 6 hours (n = 44) was compared with Voltaren and Tobrex, one drop of each every 6 hours (n = 44) in a 22-day course. Efficacy was assessed from changes of the sum of anterior chamber cell count plus flare, conjunctival hyperemia and edema, and ciliary congestion, by means of slit lamp biomicroscopy on days 1, 7, 14, and 21. Tolerance and ocular tolerability were assessed by recording intraocular pressure (IOP), side effects, and the patient's and investigator's opinions. RESULTS: Anterior chamber cell count plus flare showed no differences in the two treatment groups at any evaluation point. The study treatment was associated with a significantly higher score for conjunctival edema on day 1 (p = 0.015), conjuncitval hyperemia on day 14 (p = 0.009) and anterior chamber cell count on day 21 (p = 0.04), but these differences had no clinical relevance. No side effects related to the study treatment were recorded. CONCLUSIONS: Efficacy, tolerance, and ocular tolerability of a fixed-dose combination of 0.1% diclofenac plus 0.3% tobramycin ophthalmic solution were comparable to Voltaren plus Tobrex for the control of anterior chamber inflammation after cataract surgery, with the advantage that both active principles are supplied in a single container.
Asunto(s)
Antibacterianos/administración & dosificación , Antiinflamatorios no Esteroideos/administración & dosificación , Diclofenaco/administración & dosificación , Tobramicina/administración & dosificación , Uveítis Anterior/tratamiento farmacológico , Anciano , Anciano de 80 o más Años , Cámara Anterior/patología , Antibacterianos/uso terapéutico , Antiinflamatorios no Esteroideos/uso terapéutico , Extracción de Catarata/efectos adversos , Diclofenaco/uso terapéutico , Quimioterapia Combinada , Femenino , Estudios de Seguimiento , Humanos , Inflamación/tratamiento farmacológico , Inflamación/etiología , Masculino , Soluciones Oftálmicas , Complicaciones Posoperatorias , Tobramicina/uso terapéutico , Uveítis Anterior/etiología , Uveítis Anterior/patologíaRESUMEN
Through 230 consecutive studies, 180 from patients and 50 from healthy persons, we obtain simultaneous figures of the spleen and the liver. The best position to obtain better scintigraphies of the spleen was the posterior left oblique. The normal dimensions of the spleen image was 11.1 mm. +/- 1.2 mm. (1 sigma) long diameter, and 6.9 mm. +/- 1.1 mm (1 sigma) broad diameter. In a great number of patients we found an enlargement of the spleen in the scintigraphic image without clinical demonstration. The study is easy, rapid and without troubles for patients; moreover it afford an important knowledge in the study of the spleen and the liver in simultaneous form.