PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 17080745

[Fabry disease].

Ewa Jakubowska·Monika Ryba·Zbigniew Hruby
View original source ↗Export metadata ↓

Abstract

Fabry disease is a rare genetic disorder, which is linked to a defect of alfa-galactosidase. In consequence it leads to an excess of glicosphyngolipids in lysosomes of various tissues and organs. Clinical symptoms are related to heart, skin, kidneys and nervous system. Nowadays due to a possibility of substitution of galactosidase A, a influence on clinical course of the disease can be attained: arresting of progression and avoidance of complications.

Explore related subjects

Disease ProgressionFabry DiseaseFemaleGenetic TherapyHumansIsoenzymesKidneyLysosomesMaleRare DiseasesSkinTrihexosylceramidesalpha-GalactosidaseEnglish AbstractJournal ArticleReview

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Ewa Jakubowska, Monika Ryba, Zbigniew Hruby. 2006. [Fabry disease].. https://pubmed.ncbi.nlm.nih.gov/17080745/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2007

A simple teaching tool for training the pelvic organ prolapse quantification system.

The pelvic organ prolapse quantification (POPQ) system is currently the most common and specific system describing different prolapse stages. Nevertheless, its use is not yet accepted worldwide in routine care. Our aim was to develop a simple teaching tool for the POPQ system capable of simulating different stages of uterovaginal prolapse for use in medical education with hands on training. We constructed a moveable and flexible tool with an inverted Santa Claus' cap, which simulated the vaginal cuff and the tassel at the end representing the cervix. A wooden embroidery frame fixed the cap and served as the hymen, the reference point for all measurements. Inside the cap, we sewed buttons to define the anatomic landmark points Aa and Ap located 3 cm distal from the frame. After explaining the device to the students, we used the three-by-three grid for recording the quantitative description of the pelvic organ support. First, each student had to demonstrate a specific prolapse with his cap device. Then, a prolapse was simulated on the cap, and the student had to take the relevant measurements and record them in the POPQ grid. The main training effect to understand the POPQ system seems to be the possibility for each trainee to simulate a three-dimensional prolapse with this flexible vagina model.

Disease Progression↗
PubMed2007

The plateau iris component of primary angle closure glaucoma: developmental or acquired.

Primary angle closure glaucoma has been called the most common form of glaucoma in the world, and the leading cause of bilateral blindness. Pupillary block is felt to be the main mechanism of outflow obstruction in this condition. Recent advances in morphologic assessment of angle closure, specifically by means of ultrasound biomicroscopy, have revealed that plateau iris in eyes with angle closure glaucoma is more common than had previously been thought. The most characteristic finding in this disease is thicker and more anteriorly positioned lens. This induces the pupillary block that relives by laser iridotomy. Residual angle closure after laser iridotomy is due to the plateau iris. Peripheral iridoplasty, the standard treatment of plateau iris, tights the peripheral iris and opens the angle but has no effect on the ciliary processes configuration. The ciliary processes are positioned posteriorly after lens extraction but dose not disappears completely. Considering these facts we hypothesized that the plateau iris in primary angle closure glaucoma is a developmental entity that reaches to a critical stage with aging owing to the thickening and forward movement of the lens. Cataract surgery deeps the anterior chamber, widens the irido-corneal angle and reposits the ciliary processes posteriorly, so it can prevents synechia formation and progressive lens-induced angle narrowing and plateau iris progression, the acquired component, with aging.

Disease Progression↗