geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Optical diagnosis of a metabolic disease: cystinosis


, : Optical diagnosis of a metabolic disease: cystinosis. Journal of Biomedical Optics 18(4): 046013-046013

Nephropathic cystinosis (NC) is a rare autosomal recessive storage disease characterized by the lysosomal accumulation of cystine crystals throughout the body, particularly in blood cells, the cornea, skin, kidneys, the central nervous system, and the muscles. The skin and the cornea are the most accessible sites to explore, and in vivo reflectance confocal microscopy (IVCM) helps identify crystals in both but does not provide any information to help define their composition. Raman spectroscopy (RS) allows cystine to be easily recognized thanks to its characteristic signature with a band at 499 cm⁻¹. Two dermatology confocal microscopes were used to visualize crystals in both the skin and the ocular surface of a cystinosis patient, and an ex vivo Raman examination of a skin biopsy and of the cornea was performed and removed during a corneal graft to confirm the cystine composition of the crystals. Recently, RS has been performed in vivo and coupled with IVCM. In the future, it is suggested that crystals in NC and other deposits in storage diseases could be identified with this noninvasive in vivo technique that combines IVCM to recognize the deposits and RS to confirm their chemical nature.

US$19.90

PMID: 23612886

DOI: 10.1117/1.JBO.18.4.046013


Other references

Wirtshafter, D.; Asin, K.E., 1995: Dopamine antagonists induce fos-like-immunoreactivity in the substantia nigra and entopeduncular nucleus of the rat. Injections of the D-2 receptor antagonists haloperidol (0.5-8 mg/kg) and metoclopramide (6.25-50 mg/kg) in rats resulted in a dose dependent induction of Fos-like-immunoreactivity in the rostral portion of the entopeduncular nucleus (EPN) and in t...

Hubbard, T.F.; Goldbaum, L.R., 1950: Effects of pyribenzamine on the respiration of mouse brain homogenates. Journal of Laboratory and Clinical Medicine 35(2): 284-286

Reichsman, F., 1946: Survival times of hypertensive rats receiving fish-oil extracts. Trials with rats and mice in which chronic hypertension was induced by Grollman's technique (Proc. Soc. Exp. Biol. Med., 1944, 57, 102) suggested that the administration of extracts of oxidized fish oils prolonged the life of animals with chr...

Reichsman F.; Levy N.B., 1972: Problems in adaptation to maintenance hemo dialysis a 4 year study of 25 patients. Archives of Internal Medicine 130(6): 859-867

Windhorst, H.W., 2005: EU turkey meat production and trade in perspective. Data are presented on EU turkey meat production and trade between 1970 and 2004. Concentration in production, regional patterns of trade, and per capita consumption are discussed. It is shown that EU turkey meat production and trade seem to have r...

Lee, J.Yeop.; Passalacqua, K.D.; Hanna, P.C.; Sherman, D.H., 2011: Regulation of petrobactin and bacillibactin biosynthesis in Bacillus anthracis under iron and oxygen variation. Bacillus anthracis produces two catecholate siderophores, petrobactin and bacillibactin, under iron-limited conditions. Here, we investigate how variable iron and oxygen concentrations influence the biosynthetic output of both siderophores in B. a...

Hudson, E.; DeMeyer, M.K., 1968: Food as a reinforcer in educational therapy of autistic children. Nine young schizophrenic and autistic children without communicative speech and age-appropriate craft skills entered a program designed to shape the children's use of craft and art media. The children did not learn the new behavior until food...

Mizuno, K.; Sone, S.; Orino, E.; Nii, A.; Ogura, T., 1994: Autonomous expressions of cytokine genes by human lung cancer cells and their paracrine regulation. Cell-to-cell interaction between tumors and host inflammatory cells is important for the subsequent cancer progression or regression. We examined the expressions of mRNAs for various proinflammatory cytokines by nine human lung cancer cell lines a...

Syrynska, M., 1975: Studies of marginal contact of fillings from the standpoint of secondary caries. Czasopismo Stomatologiczne 28(2): 135-142

Buckle, R.M.; Beck, J.C., 1962: Modifying influence of glucose on fatty acid-mobilizing activities of epinephrine, ACTH and growth hormone in vitro. The stimulating effects of varying concentrations of epinephrine, ACTH and growth hormone on the release of non-esterified fatty acids (NEFA) from rat epididymal fat were investigated in the presence and absence of additional glucose in the incuba...