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70,615 results
  • Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants. [Journal Article]
    J Appl Genet 2019Lipiński P, Stawiński P, … Tylki-Szymańska A
  • Zellweger spectrum disorders (ZSD) constitute a group of rare autosomal recessive disorders characterized by a defect in peroxisome biogenesis due to mutations in one of 13 PEX genes. The broad clinical heterogeneity especially in late-onset presenting patients and a mild phenotype complicates and delays the diagnostic process. Here, we report a case of mild ZSD, due to novel PEX1 variants. The p…
  • [Sumbawanga eye camp follow-up study 2019]. [Journal Article]
    Ophthalmologe 2019Irle S, Msigomba E, Paust K
  • CONCLUSIONS: Although the vision improved, the results are sobering when taken in the context of the WHO guidelines. The postoperative refraction showed a myopic shift and an high level of astigmatism. The reasons are manifold: ocular comorbidities, limited diagnostic and therapeutic possibilities in a nonclinical setting. Other factors are the kind of training of the staff in the camp, the difficult circumstances and advanced findings. Consideration of the results of this study is imperative to be able to measure the quality of the work and to create the potential to make future improvements.
  • Ionising radiation and lens opacities in interventional physicians: results of a German pilot study. [Journal Article]
    J Radiol Prot 2019; 39(4):1041-1059Scheidemann-Wesp U, Gianicolo EAL, … Hammer GP
  • We assessed the feasibility of an epidemiological study on the risk of radiation-related lens opacities among interventional physicians in Germany. In a regional multi-centre pilot study associated with a European project, we tested the recruitment strategy, a European questionnaire on work history for the latter dosimetry calculation and the endpoint assessment. 263 interventional physicians and…
  • Visual acuity and defocus curves with six multifocal intraocular lenses. [Journal Article]
    Int Ophthalmol 2019Gil MA, Varón C, … Buil JA
  • CONCLUSIONS: The extended depth of focus of the Symfony ZXR00 offers a superior range of clear vision at far and intermediate distances than other multifocal designs, with worse results at near distance. Visual outcomes reflect the particular optical, geometrical and power distribution characteristics of each IOL.
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