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Part III, Chapter

Calcium (see also Part III, Chapter 2.3) Numerous reports exist relating to patients with either too-high or too-low concentrations of calcium in the blood and/or urine. [Pg.466]

Denfs disease is a familial renal tubular syndrome characterized by low molecular-weight proteinuria, hypercalciuria, nephrolithiasis and eventual renal failure. Mutations in the CLC-5 chloride channel are the basis for this disease. In humans, this channel is expressed mainly in the kidney, and mutations in the human CLCN5 promoter region might be the cause of Denf s disease (Devuyst et al. 1999, Hayama et al. 2000). [Pg.466]

Wilson s disease has been detected in all known ethnic groups, and occurs worldwide with an estimated frequency of 1 in 30000 and a carrier rate of 1 in 90. This frequency is increased in populations where consanguinity was once a common practice (Loudianos et al. 2000). [Pg.467]

DNA analysis from patients with Wilson s disease has revealed more than 190 heterogenous mutations (Gu et al. 2000), comprising a very small number of frequent mutations within specific populations and a greater number of rare individual alleles. The H1069Q mutation accounts for more than 40% of the alleles in populations of Northern European origin. An A778L mutation in the fourth transmembrane domain has been observed in 30% of alleles in Oriental patients (Loudianos et al. 2000). [Pg.467]

The laboratory diagnosis of Wilson s disease is confirmed by decreased serum ceruloplasmin, increased urinary copper content, and elevated hepatic copper concentration. In most cases, a liver biopsy will be warranted to obtain an accurate measurement of hepatic copper, that will be elevated even in asymptomatic patients. Witt et al. (2001) recently described a DNA-based method for rapid determination of the H1069Q mutation in the ATP7B gene. [Pg.467]


The general subject of toxicologj is discussed in detail in Part III - Chapter 11. However, tliree toxicology teniis are introduced here in order for tlie reader to better grasp tlie problems encountered witli a toxic release. Threshold limit values (TLVs) can be categorized in tliree ways. ... [Pg.233]

Combinations of weather conditions, wind speed and wind direction along witli boiling point, vapor density, diffusivity, and heat of vaporization of tlie chemical released vary the healtli impact of tlie released chemical on the nearby population. To model a runaway reaction, the release of 10,000 gallons was assumed to occur over a 15-minute period. Tlie concentration of the chemical released was estimated, using procedures described in Part III (Chapter 12) for each combination of weather condition, wind speed, and wind direction. The results, combined with population data for tlie area adjacent to tlie plant, led to probability estimates of the number of people affected. Table 21.5.3 sunimarizes tlie findings. [Pg.623]

Kyle, J. R. 1981. Geology of the Pine Point lead-zinc district. In Wolf, K. H. (ed) Handbook of Strata-bound and Stratiform Ore Deposits. Elsevier, Volume 9, part III, Chapter 11, Amsterdam, 643-741. [Pg.32]

The retention of contaminants in the snbsnrface, controlled by properties of both chemicals and snbsnrface constituents as well as contaminant partitioning among the solid, aqneons, and gaseous phases, are the focus of Part III. Chapter 5 deals... [Pg.418]

For Oxygon, see this Series, Vol. VII., Part I. for Polonium, see Vol. III., Part I. a The general characteristics of the elements of Subdivision A are dealt with in this Series, Vol. VII., Part III., Chapter I. Those of the elements of Group VI. considered as a wholo are dealt with in VoCjVTI., Part I., Chapter I. [Pg.3]

LA Air Quality Div. 1998. State of Louisiana, Department of Environmental Quality, Air Quality Division. LA. Admin. Code Tit. 33, Part III, Chapter 51. [Pg.435]


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Zinc (see also Part III, Chapter

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