Hereditary definition

Without regard to therapy, potentially valuable diagnostic tests are available for presymptomatic evaluation of risk of breast cancer due to predisposition from BRCA 1 or BRCA 2 and of colon cancer related to familial adenomatous polyposis (APC gene) or hereditary nonpolyposis mismatch repair genes (MSH 2). Genetic predisposition to Alzheimer disease associated with ApoE4 is neither sufficient nor necessary to lead to the clinical condition, and no definitive therapy is available. 

Familial transthyretin amyloidosis (ATTR) is a hereditary degenerative disease which is closely associated with single amino acid substitutions in the plasma protein transthyretin (TTR), a 127 amino acid protein (Mr 13,761 Da) that is tetrameric in its native state.28 The clinical manifestations of ATTR are related to specific mutations of TTR (e.g., Val30 - Met and Thr60 — Ala). The definitive diagnosis is often established on the basis of the... 

Hereditary fructose intolerance affects one in 21 000 persons, and there have been more than 12 severe complications caused by these solutions, several lethal. Since a prior history of fructose intolerance is often not obtained, it has been argued that the use of fructose- and sorbitol-containing infusion fluids must be regarded as offering doubtful advantage but carrying definite lethal risk, and that their use should be discontinued. A modified intravenous fructose tolerance test should at least be carried out before infusions of fructose or sorbitol are giveu (8). 

The Species,. . ., designates the whole of the individuals supposed to be descended from one original plant, or pair of plants. But this definition is practically useless - for we have no means of ascertaining the hereditary history of individual plants. ... 

The chromosomes are threadlike assemblies that are extremely important because they contain the genes that transmit the hereditary information. Every species has a definite number of chromosomes. The human species has 23 pairs, one chromosome of each pair being contributed by each parent. Every cell has 23 pairs of chromosomes with the exception of the egg and the sperm, which have 23 chromosomes each. When fertilization occurs, the first cell of the new organism contains 23 pairs of chromosomes, equally contributed by each parent. 

The host-mediated assay is a simple technique that attempts to bridge the gap between in vitro microbial studies and definitive tests in mammals. The numerous advantages of microorganisms as determinants of hereditary change are utilized in an experimental mammal after it has had an opportunity to metabolize the compound under investigation. This assay was developed to determine the ability of laboratory animals to either potentiate or detoxify compounds in regard to their mutagenic activity. In addition to the studies in mammals, it is essential to conduct the in vitro assay as a control for the host-mediated assay. 

The intruder elements undergo random, single base substitutions these mutations are frequent (one to 10/10 base pairs), heterogenous, and become clonal. Best known are these mutations in the hereditary non-polyposis colon cancer Lynch syndrome [2098]. These somatic point mutations appear as repetitive sequences, which are mismatch-repaired. While the initial mutations as oncogenic pathways were of definitive causative effect, the additional somatic point mutations occur... 

Xanthinuria is a rare hereditary disease characterized by a deficiency of xanthine oxidase (E C 1,2,3,2), which metabolized hypoxanthine and xanthine to uric acid. In Japan, two cases of xanthinuria have been reported. However, during the past two years, we have investigated four patients with hypouricemia, hypouricosuria and xanthinuria. In almost all of these patients, hypouricemia (less than 1,0 mg/dl) was the most important index information to make a definite diagnosis of this disorder. After clinical profiles of these four patients were described, an easy method of detection of xanthine oxidase activity from the duodenal mucosa was developed by the authors. Urinary oxypurine was also analyzed by high-pressure liquid chromatography, and the results are reported here. 

It is assumed that within the range of exposure conditions usually encountered in radiation work, the risks of cancer and hereditary damage increase in direct proportion to the radiation dose. It is also assumed that there is no exposure level that is entirely without risk. Thus, for example, the risk factor for leukaemia is about 1 in 300 per sievert (see below for definition) of dose equivalent to the red bone marrow. In scientific notation, this is given as 3.4 x 10 per sievert. The mortality risk factor for all cancers from uniform irradiation of the whole body is about 3.4 x 10 per sievert for a UK working population, aged 20 to 64 years, averaged over both sexes. 

The nonlinear constitutive law due to Schapery may be linearized by assuming that the nonlinearizing parameters 8 y d g2 have a value of unity. In addition, the stress-dependent part of the exponent in the definition of the shift function is set to zero. Consequently, the constitutive law reduces to the hereditary integral form commonly used to describe a linear viscoelastic material. 

No political truth is certainly of greater intrinsic value or is stamped with the authority of more enlightened patrons of liberty than that on which the objection is founded. The accumulation of all powers legislative, executive and judiciary in the same hands, whether of one, a few or many, and whether hereditary, self appointed, or elective, may justly be pronounced the very definition of tyranny. Were the federal constitution therefore really chargeable with this accumulat ion of power or with a mixture of powers having a dangerous tendency to such an accumulation, no further arguments would be necessary to inspire a universal reprobation of the system. I persuade myself however, that it will be made apparent... 

These include the following (a) s-IBM is a vacuolar myopathy with protein aggregates (inclusions), which include aggregates containing amyloid-P, phosphorylated-tau, a-synudein, parkin, and many other AMieimer- and Parkinson-type proteins in those accumnlations (see Chapters 7 and 10). s-IBM still lacks a definitive treatment (see Chapter 7). (b) Hereditary indusion-body myopathy is dne to mutation of the GNE or VCPgene (see Chapters 12 and 15). (c) Adult-onset add-maltase defidency. (d) Dermatomy-ositis often well-treatable (see above and Chapter 3). 

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