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  • Atlas Entry - Pattern dystrophy - University of Iowa
    Pattern dystrophy Category (ies): Inherited Eye Diseases, Retina Vitreous Contributor: Aaron M Ricca, MD Montage color fundus photographs are from a 63-year-old patient with molecularly-confirmed pattern dystrophy, which is an autosomal dominant, inherited retinal degeneration due to a mutation in the RDS peripherin gene located on chromosome 6
  • Pattern Dystrophy Associated with Myotonic Dystrophy
    PD subtypes include butterfly-shaped pattern dystrophy, reticular dystrophy, multifocal PD, simulating flavimaculatus, adult vitelliform dystrophy, and fundus pulverlentus [17] The patient described in this case displayed the butterfly-shaped pattern on FAF, consistent with butterfly-shaped pattern dystrophy (BPD)
  • Atlas Entry - Stargardt disease
    Ed Stone, MD, PhD teaches the following: A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy Most common mutation is Gly1961Glu Clinical features: • bullseye maculopathy • vermillion (orange) fundus and masked choroid • pisciform flecks (due to lipofuscin A2E deposits) → If flecks are seen, then patients will usually
  • Atlas Entry - Epithelial basement membrane dystrophy (map-dot . . .
    Epithelial basement membrane dystrophy (map-dot-fingerprint dystrophy) Category (ies): Cornea Contributor: Lorraine M Provencher, MD Photographer: Brice Critser, CRA This patient had both Meesmann epithelial corneal dystrophy and striking epithelial basement membrane dystrophy (EBMD), neither of which were symptomatic
  • 43-Corneal-Stromal-Dystrophies - University of Iowa
    LATTICE CORNEAL DYSTROPHY Lattice corneal dystrophy (LCD) is the most common of the corneal stromal dystrophies It is an autosomal dominant, bilateral disease that typically presents toward the end of the first decade of life with symptoms of recurrent corneal erosions and decreased vision
  • Fuchs’ Endothelial Corneal Dystrophy - University of Iowa
    : Fuchs’ Endothelial Corneal Dystrophy, Ophthalmology Case Reports and Grand Rounds from the University of Iowa Department of Ophthalmology Visual Sciences
  • Atlas Entry - Lattice corneal dystrophy - University of Iowa
    Posted: 06 04 2024 A 55-year-old female presented with foreign body sensation in both eyes She has a family history significant for lattice corneal dystrophy in her father and paternal grandmother On exam, there were prominent refractile lines in the anterior corneal stroma with a branching pattern consistent with lattice corneal dystrophy
  • Atlas Entry - Granular corneal dystrophy - University of Iowa
    Granular corneal dystrophy type 1 is an autosomal dominant condition secondary to a mutation in the TGFβ1 gene This dystrophy results in hyaline material deposition which appears early in life as discrete "bread crumb" or "rock candy" granular opacities in the anterior corneal stroma with intervening clear spaces and sparing of the periphery
  • Atlas Entry - Fleck Corneal Dystrophy (a. k. a. Francois-Neetens speckled . . .
    Fleck Corneal Dystrophy (a k a Francois-Neetens speckled corneal dystrophy) is an autosomal dominant disorder caused by a mutation in phosphoinositide kinase (gene locus 2q34) that results in the accumulation of glycosaminoglycans and complex lipids in swollen vacuolated keratocytes Clinically, subtle, yet distinctive, small, translucent, gray-white, dandruff-like flakes are seen scattered
  • Malattia Leventinese (Familial Dominant Drusen):
    Plump disc drusen are also seen Course: In this young patient with a radiating pattern of drusen in both eyes and an autosomal dominant family history of similar findings, a diagnosis of a familial dominant drusen is likely Specifically, Malattia Leventinese seemed the most probable diagnosis





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