The Experts below are selected from a list of 72 Experts worldwide ranked by ideXlab platform
Jose C Moreno - One of the best experts on this subject based on the ideXlab platform.
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towards the pre clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase dehal1 defects
Best Practice & Research Clinical Endocrinology & Metabolism, 2014Co-Authors: Ainhoa Iglesias, Laura Garcianimo, Jose Cocho A De Juan, Jose C MorenoAbstract:DEHAL1 (also named IYD) is the thyroidal enzyme that deiodinates mono- and diiodotyrosines (MIT, DIT) and recycles iodine, a Scarce Element in the environment, for the efficient synthesis of thyroid hormone. Failure of this enzyme leads to the iodotyrosine deiodinase deficiency (ITDD), characterized by hypothyroidism, compressive goiter and variable mental retardation, whose diagnostic hallmark is the elevation of iodotyrosines in serum and urine. However, the specific diagnosis of this type of hypothyroidism is not routinely performed, due to technical and practical difficulties in iodotyrosine determinations. A handful of mutations in the DEHAL1 gene have been identified as the molecular basis for the ITDD. Patients harboring DEHAL1 defects so far described all belong to consanguineous families, and psychomotor deficits were present in some affected individuals. This is probably due to the lack of biochemical expression of the disease at the beginning of life, which causes ITDD being undetected in screening programs for congenital hypothyroidism, as currently performed. This worrying feature calls for efforts to improve pre-clinical detection of iodotyrosine deiodinase deficiency during the neonatal time. Such a challenge poses questions of patho-physiological (natural history of the disease, environmental factors influencing its expression) epidemiological (prevalence of ITDD) and technical nature (development of optimal methodology for safe detection of pre-clinical ITDD), which will be addressed in this review.
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genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase dehal1 gene mutations
Molecular and Cellular Endocrinology, 2010Co-Authors: Jose C Moreno, Theo J. VisserAbstract:Abstract Iodotyrosine deiodinase is a thyroidal enzyme that deiodinates mono- and di-iodotyrosines (MIT, DIT) and recycles iodine, a Scarce Element in the environment, for the efficient synthesis of thyroid hormone. Failure of this enzyme leads to hypothyroidism, goiter and mental retardation, a clinical phenotype yet described in the 1950s, whose diagnostic hallmark is the elevation of iodotyrosines in serum and urine. DEHAL1, the gene responsible for this activity, was recently isolated and the molecular basis for the iodotyrosine deiodinase deficiency (ITDD) unraveled. The current clinical picture of mutations in DEHAL1 mostly recapitulates the “classical” phenotype of ITDD, including the psychomotor deficits. This is probably due to the lack of expression of the disease at the beginning of life, which causes ITDD being undetected in current screening programs for congenital hypothyroidism. This worrying feature calls for efforts to improve the preclinical detection of iodotyrosine deiodinase deficiency in the neonatal time.
Theo J. Visser - One of the best experts on this subject based on the ideXlab platform.
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genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase dehal1 gene mutations
Molecular and Cellular Endocrinology, 2010Co-Authors: Jose C Moreno, Theo J. VisserAbstract:Abstract Iodotyrosine deiodinase is a thyroidal enzyme that deiodinates mono- and di-iodotyrosines (MIT, DIT) and recycles iodine, a Scarce Element in the environment, for the efficient synthesis of thyroid hormone. Failure of this enzyme leads to hypothyroidism, goiter and mental retardation, a clinical phenotype yet described in the 1950s, whose diagnostic hallmark is the elevation of iodotyrosines in serum and urine. DEHAL1, the gene responsible for this activity, was recently isolated and the molecular basis for the iodotyrosine deiodinase deficiency (ITDD) unraveled. The current clinical picture of mutations in DEHAL1 mostly recapitulates the “classical” phenotype of ITDD, including the psychomotor deficits. This is probably due to the lack of expression of the disease at the beginning of life, which causes ITDD being undetected in current screening programs for congenital hypothyroidism. This worrying feature calls for efforts to improve the preclinical detection of iodotyrosine deiodinase deficiency in the neonatal time.
Ernst Worrell - One of the best experts on this subject based on the ideXlab platform.
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Towards a sustainable use of primary boron. Approach to a sustainable use of primary resources
Resources Conservation and Recycling, 2015Co-Authors: M.l.c.m. Henckens, Peter P.j. Driessen, Ernst WorrellAbstract:Abstract The sustainable use of raw materials does not only concern the environmental impacts of their production and consumption, but also the intergenerational distribution of access to the raw material or the services provided by that material. From this sustainability perspective, current generations should not deprive future generations from economically accessible ores, but they have the responsibility to assure that a sufficient quantity of enriched deposits of primary materials continues to be available for future generations. Comparing the extraction rate of different primary materials to their current use, some materials are Scarcer than others. Elements like aluminum, magnesium, titanium and vanadium are relatively abundant and cannot be considered critical from a geological point of view. From a point of view of availability for future generations, action is not really urgent for these Elements. However, other Elements, like antimony, rhenium, gold, zinc and molybdenum are relatively Scarce from a geological perspective. The current extraction rate of these Elements is not sustainable. Boron is also a relatively Scarce Element, comparing the current extraction rate to the geological availability. The accessible ores may be depleted within two hundred years. This may affect future generations negatively in securing services provided by boron. Therefore, we investigated whether the use of primary boron could be reduced to a sustainable level) without losing any of the services currently provided by boron. In this framework we have designed a generally applicable approach for investigating whether and to what extent a combination of substitution, material efficiency and recycling could reduce the use of a primary material to a sustainable level.
Ainhoa Iglesias - One of the best experts on this subject based on the ideXlab platform.
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towards the pre clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase dehal1 defects
Best Practice & Research Clinical Endocrinology & Metabolism, 2014Co-Authors: Ainhoa Iglesias, Laura Garcianimo, Jose Cocho A De Juan, Jose C MorenoAbstract:DEHAL1 (also named IYD) is the thyroidal enzyme that deiodinates mono- and diiodotyrosines (MIT, DIT) and recycles iodine, a Scarce Element in the environment, for the efficient synthesis of thyroid hormone. Failure of this enzyme leads to the iodotyrosine deiodinase deficiency (ITDD), characterized by hypothyroidism, compressive goiter and variable mental retardation, whose diagnostic hallmark is the elevation of iodotyrosines in serum and urine. However, the specific diagnosis of this type of hypothyroidism is not routinely performed, due to technical and practical difficulties in iodotyrosine determinations. A handful of mutations in the DEHAL1 gene have been identified as the molecular basis for the ITDD. Patients harboring DEHAL1 defects so far described all belong to consanguineous families, and psychomotor deficits were present in some affected individuals. This is probably due to the lack of biochemical expression of the disease at the beginning of life, which causes ITDD being undetected in screening programs for congenital hypothyroidism, as currently performed. This worrying feature calls for efforts to improve pre-clinical detection of iodotyrosine deiodinase deficiency during the neonatal time. Such a challenge poses questions of patho-physiological (natural history of the disease, environmental factors influencing its expression) epidemiological (prevalence of ITDD) and technical nature (development of optimal methodology for safe detection of pre-clinical ITDD), which will be addressed in this review.
M.l.c.m. Henckens - One of the best experts on this subject based on the ideXlab platform.
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Towards a sustainable use of primary boron. Approach to a sustainable use of primary resources
Resources Conservation and Recycling, 2015Co-Authors: M.l.c.m. Henckens, Peter P.j. Driessen, Ernst WorrellAbstract:Abstract The sustainable use of raw materials does not only concern the environmental impacts of their production and consumption, but also the intergenerational distribution of access to the raw material or the services provided by that material. From this sustainability perspective, current generations should not deprive future generations from economically accessible ores, but they have the responsibility to assure that a sufficient quantity of enriched deposits of primary materials continues to be available for future generations. Comparing the extraction rate of different primary materials to their current use, some materials are Scarcer than others. Elements like aluminum, magnesium, titanium and vanadium are relatively abundant and cannot be considered critical from a geological point of view. From a point of view of availability for future generations, action is not really urgent for these Elements. However, other Elements, like antimony, rhenium, gold, zinc and molybdenum are relatively Scarce from a geological perspective. The current extraction rate of these Elements is not sustainable. Boron is also a relatively Scarce Element, comparing the current extraction rate to the geological availability. The accessible ores may be depleted within two hundred years. This may affect future generations negatively in securing services provided by boron. Therefore, we investigated whether the use of primary boron could be reduced to a sustainable level) without losing any of the services currently provided by boron. In this framework we have designed a generally applicable approach for investigating whether and to what extent a combination of substitution, material efficiency and recycling could reduce the use of a primary material to a sustainable level.
