Disease detection

The detection of restriction fi agment length polymorphisms (RFLPs) facilitates prenatal detection of hereditary disorders such as sickle cell trait, beta-thalassemia, infant phenylketonuria, and Huntington s disease. Detection of RFLPs involves cleavage of double-stranded DNA by restriction endonucleases, which can detect subtle alterations in DNA that affect their recognized sites. Chapter 40 provides further details concerning the use of PCR and restriction enzymes for diagnosis. 

In this section, use of the IO YI as an immunosensor is demonstrated, being relevant, e.g., for identification of biomarkers for early disease detection. The sensor is used to monitor the anti-human serum albumin - human serum albumin (a-HSA-HSA) immunoreaction. 

Modem science and medicine have made great strides in the previous decade in the diagnosis and study of disease. Nonetheless, early disease detection capabilities must be improved. Also, new tools are needed for the study of diseases such as cancer, Alzheimer s, heart disease, and many others to enable greater progress toward cure and prevention. Today, the field of optical biosensing is poised to develop tools that will enable earlier diagnosis and that will allow scientists to better study diseases at the molecular level, leading to the development of cures and prevention methods. 

An elegant approach is to capture the target DNA or RNA with specific oligonucleotides on to a microwell plate. Synthetic branched DNA bearing multiple alkaline phosphatase-labeled probes hybridizes to the target. A chemiluminescent substrate is added to produce signal. This branched DNA assay has been used in infectious disease detection (W3). 

Autopsies of 77 Hawaiian individuals between 1966 and 1968 found heptachlor epoxide in tissues at levels ranging from 1 to 32 ppb (Klemmer et al. 1977). The highest levels of heptachlor epoxide occurred in bone marrow and liver, although the actual levels were not provided in the study. Autopsies of 271 patients with various terminal diseases detected heptachlor epoxide concentrations in fat (0.21 0.11-0.48 0.37 ppm) and to a lesser degree in liver and brain (trace to 0.05 ppm and trace to 0.01 ppm, respectively) (Radomski et al. 1968). There appeared to be no correlation between the cause of death and the heptachlor epoxide concentration or pesticide usage during the lifetime of the individual. 

A. M. W. Penn, T. Roberts, J. Hodder, P. S. Allen, G. Zhu and W. R. W. Martin, Generalized mitochondrial dysfunction in Parkinson s disease detected by magnetic resonance spectroscopy of muscle. Neurology, 1995,45, 2097-2099. 

K. Sevastianova, A. Hakkarainen, A. Kotronen, A. Comer, P. Arkkila, J. Arola, J. Westerbacka, R. Bergholm, J. Lundbom, N. Lundbom and H. Yki-Jarvinen, Nonalcoholic fatty Uver disease detection of elevated nicotinamide adenine dinucleotide phosphate with in vivo 3.0-T P MR spectroscopy with proton decoupling. Radiology, 2010, 256,466-473. 

Dworzak MN, Frbschl G, Printz D et al. Austrian Berlin-Frankfurt-Munster Study Group. Prognostic significance and modalities of flow cytometric minimal residual disease detection in childhood acute lymphoblastic leukemia. B/oorf2002 99 1952-1958. 

O Brien JS, Okada S, Chen A, Fillerup DL (1970) Tay-Sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay. N Engl J Med 283 15-20... 

A Tandem Mass Spectrometry Primer for Metabolite Disease Detection... 

In a Finnish study analysis of the association between the prolonged use of lynestrenol (to suppress menstruation in mentally retarded women) and arterial disease detected at autopsy, the conclusion was that such treatment, here given for a mean of more than 6 years, increases the risk of arterial disease and that such treatment must be very carefully considered (7). 

Petricoin E, Wulfkuhle J, Espina V, Liotta LA. Clinical proteomics Revolutionizing disease detection and patient tailoring therapy. J Proteome Res 2004 3(2) 209-217. 

Huang et al. [176] described an integrated microfluidic chip (of PDMS and soda-lime glass) capable of performing DNA/RNA amplification, electroki-netic sample injection and separation, and online optical detection in an automatic mode. The authors tested its functionality for bacterial DNA of Streptococcus pneumoniae and RNA of dengue-2 vims. The NCE developed represented a crucial contribution to the fields of molecular biology, genetic analysis, infectious disease detection, and other biomedical applications. 

Circulating Immune Complex. Anti-dsDNA/DNA immune complexes have long been considered responsible for the development of lupus nephritis. The level of immune complexes in SLE patients with active disease detected by monoclonal anti-DNA antibodies is higher (T7). About half of SLE patients had elevated amounts of DNA antigen in the immune complexes (N4, R2, S27). 

Belch JJ, Topol EJ, Agnelli G, et al. Critical issues in peripheral arterial disease detection and management a call to action. Arch Intern Med 2003 163 884-892. 

Pujia A, Rubba P Spencer M P Prevalence of extracranial carotid artery disease detectable by echo-Doppler in an elderly population. Stroke 1992 23 818-822. 

Lagally, E.T., Scherer, J.R., Blazej, R.G., Toriello, N.M., Diep, B.A., Ramchan-dani, M., Sensabaugh, G.F., Riley, L.W., Mathies, R.A., Integrated portable genetic analysis microsystem for pathogen/infectious disease detection. Anal. Chem. 2004, 76, 3162-3170. 

For late onset diseases such as Alzheimer s disease, detection of genes is even more difficult, because parental information may be difficult or impossible to obtain. The use of siblings has the advantage of avoiding the difficulties of recruiting parents for the study of late-onset conditions. The utility of sib pairs for QTL linkage analysis is well established (17,18). If a marker locus is linked to a QTL the difference in the value of a trait between two sibs in... 

Glycan Array for Diseases Detection and Vaccine Development... 

The techniques of FISH and mFISH used in conjunction with the resolving power and automated digital imaging capabilities of the fluorescence microscope offer a powerful combination of advantages that stand to benefit many areas of biology, from basic research to prenatal disease detection, cancer research, pathology, and cytogenetics. 

Renal disease is detected through urinanaly-sis done yearly on PIZZ individuals with liver disease. Detection of proteinuria would lead to examination of a quantitative 24-hour urine for protein. If confirmation of the diagnosis is essential, then renal biopsy would be necessary. 

Amino acids (AA) have also been studied on microdevices for development of microclinical analysis devices. In urine, normal ranges for standard amino acids and their metabolites range from 0 to 24 mM, with abnormal concentrations indicative of a number of disease states. Plasma concentrations of certain amino acids can also be used for disease detection. Elevated homocysteine levels in plasma is an independent risk factor for cardiovascular disease. Microdevices employing end-column amperometric detection were used for the determination... 

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