Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

"Hypomyelination and Congenital Cataract", HCC (MIM #610532), is an autosomal recessive disorder characterized by congenital cataract and diffuse cerebral and peripheral hypomyelination. HCC is caused by deficiency of Hyccin, a protein whose biological role has not been clarified yet. Since the identification of the cell types expressing a protein of unknown function can contribute to define the physiological context in which the molecule is explicating its function, we analyzed the pattern of Hyccin expression in the central and peripheral nervous system (CNS and PNS). Using heterozygous mice expressing the b-galactosidase (LacZ) gene under control of the Hyccin gene regulatory elements, we show that the gene is primarily expressed in neuronal cells. Indeed, Hyccin-LacZ signal was identified in CA1 hippocampal pyramidal neurons, olfactory bulb, and cortical pyramidal neurons, while it did not colocalize with oligodendroglial or astrocytic markers. In the PNS, Hyccin was detectable only in axons isolated from newborn mice. In the brain, Hyccin transcript levels were higher in early postnatal development (postnatal days 2 and 10) and then declined in adult mice. In a model of active myelinogenesis, organotypic cultures of rat Schwann cells (SC)/Dorsal Root Ganglion (DRG) sensory neurons, Hyccin was detected along the neurites, while it was absent from SC. Intriguingly, the abundance of the molecule was upregulated at postnatal days 10 and 15, in the initial steps of myelinogenesis and then declined at 30 days when the process is complete. As Hyccin is primarily expressed in neurons and its mutation leads to hypomyelination in human patients, we suggest that the protein is involved in neuron-to-glia signalling to initiate or maintain myelination.
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PMID:Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein. 2246 84

Objective. To compare patient's satisfaction level in performing routine activities during daylight and night vision after implantation with rigid, foldable, or rollable posterior chamber intraocular lens implants in uneventful cataract surgery. Design. Retrospective, cross-sectional. Place and Duration of Study. PNS SHIFA Hospital, Karachi, from Nov. 2009 to Nov. 2010. Methodology. 91 cataract surgery patients who had uneventful phacoemulsification, within the bag placement of intraocular lens and achieved best corrected visual acuity 6/9 or better were included in the study. Patients who developed postoperative complications were excluded. A specially designed questionnaire was used to assess patient's satisfaction level of vision for those who underwent cataract surgery at least 3 months ago. Finally, they were categorized into five groups ranging from "very good" to "very poor." SPSS version 16 was used to analyze the results. Results. There was a difference in satisfaction level between three groups. Vision was good in the day and the night with foldable posterior chamber intraocular lens implants. Conclusion. It was concluded that visual satisfaction level of patients who had foldable posterior chamber intraocular lens implantation was better during the day and night as compared to patients who had rigid or rollable posterior chamber intraocular lenses implantation.
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PMID:Comparison of Patient's Satisfaction Level after Different Types of Posterior Chamber Intraocular Lens Implantation. 2277 3