نتایج جستجو برای: canavan disease
تعداد نتایج: 1490117 فیلتر نتایج به سال:
Canavan disease (CD) is an autosomal recessive leukodystrophy characterized by spongy degeneration of the brain. The clinical features of CD are hypotonia, megalencephaly, and mental retardation leading to early death. While aspartoacylase (ASPA) activity increases with age in the wild type mouse brain, there is no ASPA activity in the CD mouse brain. So far ASPA deficiency and elevated NAA hav...
Cancer of the uterine cervix is the second most common and the fifth most deadly cancer among women worldwide, and it is the principal cancer among women in most developing countries (Kent, 2010). With an overall poor survival rate cervical cancer continues to remain a key international health problem (Ferlay et al., 2002). Accomplishment of Papanicolaou (Pap) screening program to reduce the in...
1 Dahlmann AH, Appaswamy S, Headon MP. Orbital cellulitis following subTenon’s anaesthesia. Eye 2002; 16: 200–1. 2 Stevens JD. A new local anaesthesia technique for cataract extraction by one quadrant sub-Tenon’s infiltration. British Journal of Ophthalmology 1992; 76: 670–4. 3 Guise PA. Single quadrant sub-Tenon’s block. Evaluation of a new local anaesthetic technique for eye surgery. Anaesthe...
This study describes a standardized method for recording single-pulse 1H-nuclear magnetic resonance (1H-NMR) spectra from cerebrospinal fluid (CSF). Quantitative data for alanine, valine, threonine, and lactic acid correlated well with data obtained with conventional techniques. The pH of the samples is important for the reproducibility of the chemical shift of resonances, and should be standar...
was a single case of true beriberi seen, whether inside the hospital or in the outpatients' department. Some cases showed ' dys-sebacia' and phrynoderma as a minor evidence of vitamin B or vitamin A deficiency, but more gross signs of avitaminosis such as cheilosis, glossitis, photophobia with corneal vascularization or pellagra were rare. A few cases, however, did have spongy gums and scattere...
Canavan disease (CD) is a fatal genetic neurodegenerative disorder caused by mutations in the gene for aspartoacylase, an enzyme that hydrolyzes N-acetylaspartate (NAA) into L-aspartate and acetate. Because aspartoacylase is localized in oligodendrocytes, and NAA-derived acetate is incorporated into myelin lipids, we hypothesize that an acetate deficiency in oligodendrocytes is responsible for ...
Recombinant adeno-associated virus (rAAV) vectors mediating long term transgene expression are excellent gene therapy tools for chronic neurological diseases. While rAAV2 was the first serotype tested in the clinics, more efficient vectors derived from the rh10 serotype are currently being evaluated and other serotypes are likely to be tested in the near future. In addition, aside from the curr...
respiratory utopia or common sense? Thorax 2013; 68: 691–694. 4 Han MK, Agusti A, Calverley PM, et al. Chronic obstructive pulmonary disease phenotypes: the future of COPD. Am J Respir Crit Care Med 2010; 182: 598–604. 5 Celli BR, Cote CG, Marı́n JM, et al. The body-mass index, airflow obstruction, dyspnea, and exercise capacity index in chronic obstructive pulmonary disease. N Engl J Med 2004; ...
Background Synovial tissue macrophages significantly contribute to Rheumatoid Arthritis, yet the precise nature/function of macrophage subsets within inflamed joint remains unexplored. Objectives To fully explore spectrum distinct activation states residing synovium RA, at risk and healthy individuals. Methods Single-cell synovial suspensions from RA (n=44), IAR (n=5), HC (n=11), PsA (n=11) OA ...
We show how Viennot’s combinatorial theory of orthogonal polynomials may be used to generalize some recent results of Sukumar and Hodges (Hodges & Sukumar 2007 Proc. R. Soc. A 463, 2401–2414 (doi:10.1098/rspa.2007.0001); Sukumar & Hodges 2007 Proc. R. Soc. A 463, 2415–2427 (doi:10.1098/rspa.2007.0003)) on the matrix entries in powers of certain operators in a representation of su(1, 1). Our res...
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