Communicated by A. Jamie CuticchiaWe describe a revised and expanded database on human intermediate filament proteins, a major component of the eukaryotic cytoskeleton. The family of 70 intermediate filament genes (including those encoding keratins, desmins, and lamins) is now known to be associated with a wide range of diverse diseases, at least 72 distinct human pathologies, including skin blistering, muscular dystrophy, cardiomyopathy, premature aging syndromes, neurodegenerative disorders, and cataract. To date, the database catalogs 1,274 manually-curated pathogenic sequence variants and 170 allelic variants in intermediate filament genes from over 459 peer-reviewed research articles. Unrelated cases were collected from all of the six sequence homology groups and the sequence variations were described at cDNA and protein levels with links to the related diseases and reference articles. The mutations and polymorphisms are presented in parallel with data on protein structure, gene, and chromosomal location and basic information on associated diseases. Detailed statistics relating to the variants records in the database are displayed by homology group, mutation type, affected domain, associated diseases, and nucleic and amino acid substitutions. Multiple sequence alignment algorithms can be run from queries to determine DNA or protein sequence conservation. Literature sources can be interrogated within the database and external links are provided to public databases. The database is freely and publicly accessible online at www.interfil.org (last accessed 13 September 2007). Users can query the database by various keywords and the search results can be downloaded. It is anticipated that the Human Intermediate Filament Database (HIFD) will provide a useful resource to study human genome variations for basic scientists, clinicians, and students alike. Hum Mutat 29(3), [351][352][353][354][355][356][357][358][359][360] 2008.

CAC may find wide applicability in clinical practice and could contribute to improved morphometric and biomechanical understanding of the cornea.

PurposeLaplace's Law, with its compactness and simplicity, has long been employed in ophthalmology for describing the mechanics of the corneoscleral shell. We questioned the appropriateness of Laplace's Law for computing wall stress in the eye considering the advances in knowledge of ocular biomechanics.MethodsIn this manuscript we recapitulate the formulation of Laplace's Law, as well as common interpretations and uses in ophthalmology. Using numerical modeling, we study how Laplace's Law cannot account for important characteristics of the eye, such as variations in globe shape and size or tissue thickness, anisotropy, viscoelasticity, or that the eye is a living, dynamic organ.ResultsWe show that accounting for various geometrical and material factors, excluded from Laplace's Law, can alter estimates of corneoscleral wall stress as much as 456% and, therefore, that Laplace's Law is unreliable.ConclusionsWe conclude by illustrating how computational techniques, such as finite element modeling, can account for the factors mentioned above, and are thus more suitable tools to provide quantitative characterization of corneoscleral biomechanics.

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PurposeTo establish and to rank the performance of a corneal adaptive compensation (CAC) algorithm in enhancing corneal images with scars acquired from three commercially available anterior segment optical coherence tomography (ASOCT) devices.MethodsHorizontal B-scans of the cornea were acquired from 10 patients using three ASOCT devices (Spectralis, RTVue, and Cirrus). We compared ASOCT image quality (with and without CAC) by computing the intralayer contrast (a measure of shadow removal), the interlayer contrast (a measure of tissue boundary visibility), and the tissue/background contrast (a measure of overall corneal visibility). All six groups (Spectralis, RTVue, Cirrus, Spectralis+CAC, RTVue+CAC, and Cirrus+CAC) were ranked according to a global performance index that averaged all contrast quantities.ResultsCAC provided mean intralayer contrasts improvement for all devices (all P < 0.05). Mean tissue/boundary contrasts were also improved for Spectralis and Cirrus (both P < 0.001). Mean interlayer contrasts were increased for Spectralis (P = 0.011) only. When comparing global performance indices, all CAC groups outperformed their corresponding baseline groups significantly. RTVue performed best without CAC, but Spectralis+CAC was ranked first.ConclusionsASOCT images of corneal scars may be enhanced by CAC through shadow removal, improved tissue boundary visibility, and enhanced corneal visibility against the image background. RTVue produces the finest baseline images but the best image quality can be achieved by applying CAC to Spectralis images.Translational RelevanceCAC could enhance visibility of corneal images with scars acquired from commercially available ASOCT devices and could aid preoperative planning of patients for ophthalmic procedures.