ABSTRACT
Ocular colobomata present diagnostic and therapeutic challenges in patients of all ages, but especially in young children. The "typical" coloboma, caused by defective closure of the fetal fissure, is located in the inferonasal quadrant, and it may affect any part of the globe traversed by the fissure from the iris to the optic nerve. Ocular colobomata are often associated with microphthalmia, and they may be idiopathic or associated with various syndromes. Types and severity of complications vary depending on the location and size of the colobomata. This article reviews the pathogeneses, categorization, genetic bases, differential diagnoses and management of ocular coloboma.
Subject(s)
Coloboma , Abnormalities, Multiple , Coloboma/diagnosis , Coloboma/etiology , Coloboma/genetics , Diagnosis, Differential , Genetic Predisposition to Disease , Humans , Microphthalmos/diagnosis , Microphthalmos/genetics , Prognosis , Visual AcuityABSTRACT
Efaroxan was synthetised by cyclisation of the tertiary alcohol 2 which was prepared by the ring opening of the gem-disubstituted epoxide 3 with ortho-metallated fluorobenzene.
Subject(s)
Adrenergic alpha-Antagonists/chemical synthesis , Benzofurans/chemical synthesis , Imidazoles/chemical synthesis , Epoxy Compounds/chemistryABSTRACT
One potential limitation of adenovirus (Ad)-based vectors for the gene therapy of cystic fibrosis (CF) and other genetic diseases is the transience of expression observed in most in vivo systems. In this study, the influence of various factors on persistence of transgene expression in the lung was investigated. In the absence of immune pressure, such as in the nude mouse, the genomic structure of the vector was found to be predominant in determining the persistence of expression; Ad vector constructs with an E1-E3+E4ORF6+ backbone encoding beta-galactosidase (beta-Gal) or the cystic fibrosis transmembrane conductance regulator (CFTR) produced declining levels of expression while an Ad/CMV beta Gal vector with an E1-E3+E4+ backbone gave rise to sustained, long-term reporter gene expression. The ability of the latter vector to persist was in turn limited in part by the presence of cytotoxic T lymphocytes (CTLs). Adoptive transfer experiments indicated that CTLs directed against either viral proteins or the beta-Gal reporter gene product were able to reduce expression in nude C57BL/6 mice stably expressing beta-Gal from the E4+ vector. Finally, the specificity and strength of the CTL response elicited by Ad vector was found to vary considerably depending on mouse strain haplotype. These results indicate that persistence of transgene expression in a given system is determined by the interplay between several factors including genomic structure of the vector, host background, and immune response.
Subject(s)
Adenoviridae/genetics , Gene Expression Regulation/genetics , Gene Transfer Techniques , Animals , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis Transmembrane Conductance Regulator/metabolism , DNA, Recombinant , DNA, Viral/genetics , DNA, Viral/metabolism , Genes, Reporter/genetics , Genetic Therapy , Genetic Vectors/genetics , Genetic Vectors/metabolism , Haplotypes/genetics , Lung/metabolism , Mice , Mice, Inbred Strains , Mice, Nude , T-Lymphocytes, Cytotoxic/immunology , T-Lymphocytes, Cytotoxic/metabolism , Viral Proteins/immunology , Viral Proteins/metabolism , beta-Galactosidase/genetics , beta-Galactosidase/metabolismABSTRACT
PURPOSE: We encountered a 4 1/2-year-old girl with gradual onset of intermittent, comitant esotropia in the absence of diplopia and other neurologic findings. METHODS: Because of the patient's relatively advanced age and lack of response to hyperopic correction for accommodative esotropia, computed tomography of the head was performed. RESULTS: A large cerebellar astrocytoma was identified and successfully resected. After strabismus surgery, fusion was reestablished. CONCLUSIONS: The onset of comitant esotropia in an older child may indicate an underlying neurologic disorder.
Subject(s)
Astrocytoma/diagnosis , Cerebellar Neoplasms/diagnosis , Esotropia/diagnosis , Astrocytoma/surgery , Cerebellar Neoplasms/surgery , Child, Preschool , Diagnosis, Differential , Esotropia/surgery , Female , Humans , Oculomotor Muscles/surgery , Tomography, X-Ray ComputedABSTRACT
A collaborative study was conducted of the Food and Drug Administration (FDA)-optimized Monier-Williams method for determining sulfites in foods. Twenty-one industry and government laboratories participated in the study, which was jointly sponsored by the National Food Processors Association and FDA. Familiarization samples were shipped to each collaborator. Collaborators were permitted to proceed to the main study only after they demonstrated ability to perform the method to ensure that the study tested the performance of the method itself and not that of the individual laboratories. The study design involved 3 food matrixes (hominy, fruit juice, and protein [seafood]). Each matrix was prepared at 3 sulfite levels--the regulatory level, half the regulatory level, twice the regulatory level--and as a blank. All test samples were analyzed as blind duplicates, which gave each collaborator a total of 24 test portions. Collaborative recoveries gave a reproducibility (among-laboratories) coefficient of variation that ranged from 15.5 to 26.6% for sulfite determined as SO2 by weight in the 3 foods at the 10 ppm level. The optimized Monier-Williams method has been approved interim official first action to replace the AOAC modified Monier-Williams method, 20.123-20.125.
