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At least 721 records · Page 40Linked to original sources
PubMed2004

Genetics and biology of vitamin D receptor polymorphisms.

The vitamin D endocrine system is involved in a wide variety of biological processes including bone metabolism, modulation of the immune response, and regulation of cell proliferation and differentiation. Variations in this endocrine system have, thus, been linked to several common diseases, including osteoarthritis (OA), diabetes, cancer, cardiovascular disease, and tuberculosis. Evidence to support this pleiotropic character of vitamin D has included epidemiological studies on circulating vitamin D hormone levels, but also genetic epidemiological studies. Genetic studies provide excellent opportunities to link molecular insights with epidemiological data and have therefore gained much interest. DNA sequence variations, which occur frequently in the population, are referred to as "polymorphisms" and can have modest and subtle but true biological effects. Their abundance in the human genome as well as their high frequencies in the human population have made them targets to explain variation in risk of common diseases. Recent studies have indicated many polymorphisms to exist in the vitamin D receptor (VDR) gene, but the influence of VDR gene polymorphisms on VDR protein function and signaling is largely unknown. So far, three adjacent restriction fragment length polymorphisms for BsmI, ApaI, and TaqI, respectively, at the 3' end of the VDR gene have been the most frequently studied. Because these polymorphisms are probably nonfunctional, linkage disequilibrium with one or more truly functional polymorphisms elsewhere in the VDR gene is assumed to explain the associations observed. Research is therefore focussed on documenting additional polymorphisms across the VDR gene to verify this hypothesis and on trying to understand the functional consequences of the variations. Substantial progress has been made that will deepen our understanding of variability in the vitamin D endocrine system and might find applications in risk assessment of disease and in predicting response-to-treatment.

Chromosomes, Human, Pair 12↗
PubMed2004

Vitamin D receptor gene polymorphisms in relation to Vitamin D related disease states.

The role in skeletal metabolism of the steroid hormone Vitamin D and its nuclear receptor (VDR) is well known. In addition, however, Vitamin D is also involved in a wide variety of other biological processes including modulation of the immune response and regulation of cell proliferation and differentiation. Variations in the Vitamin D endocrine system have thus been linked to several diseases, including osteoarthritis, diabetes, cancer, cardiovascular disease and tuberculosis. Evidence to support this pleiotropic character of Vitamin D has included epidemiological studies on circulating Vitamin D hormone levels, but also genetic epidemiological studies. Genetic studies provide excellent opportunities to link molecular insights with epidemiological data and have therefore gained much interest. DNA sequence variations which occur frequently in the population are referred to as "polymorphisms" and are usually suspected of having only modest and subtle effects. Recent studies have indicated many polymorphisms to exist in the VDR gene, but the influence of VDR gene polymorphisms on VDR protein function are largely unknown. Sofar, three adjacent restriction fragment length polymorphisms (RFLP) for BsmI, ApaI and TaqI, respectively, at the 3' end of the VDR gene have been the most frequently studied sofar. But because these polymorphisms are probably non-functional, linkage disequilibrium (LD) with one or more truly functional polymorphisms elsewhere in the VDR gene is assumed to explain the associations observed. Research is therefore focussed on documenting additional polymorphisms across the VDR gene to verify this hypothesis, and on trying to understand the functional consequences of the variations. Substantial progress has been made including the discovery of novel polymorphisms in the large promoter region of the VDR gene. Eventually, results of this research will deepen our understanding of variability in the Vitamin D endocrine system and might find applications in risk-assessment of disease and in predicting response-to-treatment.

Humans↗
PubMed2002

Indoor air pollution in developing countries: recommendations for research.

Available studies indicate that indoor air pollution (IAP) from household cooking and space heating apparently causes substantial ill-health in developing countries where the majority of households rely on solid fuels (coal or biomass as wood, crop residues, and dung), but there are many remaining uncertainties. To pin down impacts in order to effectively target interventions, research is particularly needed in three areas: (1) epidemiology: case-control studies for tuberculosis (TB) and cardiovascular disease in women and randomized intervention trials for childhood acute respiratory diseases and adverse pregnancy outcomes; (2) exposure assessment: techniques and equipment for inexpensive exposure assessment at large scale, including national level surveys; (3) interventions: engineering and dissemination approaches for improved stoves, fuels, ventilation, and behavior that reliably and economically reduce exposure. There are also important potential synergisms between efforts to reduce greenhouse gas emissions and those to reduce health-damaging emissions from solid-fuel stoves. The substitution of biomass by coal being considered in some countries should be pursued with caution because of the known serious health effects of household coal use.

Adult↗
PubMed1986

Iron removal therapy in porphyria cutanea tarda: phlebotomy versus slow subcutaneous desferrioxamine infusion.

Twenty-five patients with overt clinical and biochemical findings of porphyria cutanea tarda took part in a study comparing intensive phlebotomy with slow subcutaneous desferrioxamine treatment. Fifteen male patients (Group A) had intensive venesection therapy. Ten patients (Group B) with associated diseases (minor thalassemia, cardiovascular impairment, pulmonary tuberculosis or severe liver cirrhosis) received 1.5 g of desferrioxamine by slow subcutaneous infusion using an automatic syringe pump 5 days a week. No patient complained of appreciable side effects. Serum iron, ferritin and uroporphyrins were normalized in all subjects by the end of treatment. The mean time necessary for complete recovery was 13.8 months (range 9-19) and 11.2 months (range 6-14) in Groups A and B, respectively. Liver function significantly improved during and after the treatments in both groups. We conclude that recovery from porphyria cutanea tarda can be achieved equally well using phlebotomy or desferrioxamine subcutaneous infusion. Phlebotomy is easily performed and remains the treatment of choice; slow subcutaneous desferrioxamine treatment, although expensive, is recommended when severe associated diseases contra-indicate venesection.

Adult↗
PubMedDate not supplied

Mariano Semmola (1831-1895): the effect of low protein diet in primary albuminuria.

Mariano Semmola (1831-1895), the first Italian professor of pharmacology and clinical pharmacology, was born into a family of illustrious intellectuals and trained as a fellow of Claude Bernard, Trousseau and Rayer in Paris. His scientific activity included both animal investigations and clinical research. He is credited with important contributions to several areas of clinical medicine, from infectious diseases (cholera, and tuberculosis) to renal, cardiovascular and liver diseases. He had a lifelong interest in chronic Bright's disease. His seminal papers in that field were published in international journals and presented at international congresses and the most important European academies. As a scientist of great charisma and international reputation, he received many academic and governmental awards and even served in the Italian Parliament. His name is linked in particular with the hematogenous-dyscrasic theory of Bright's disease. He made important contributions to the pathogenesis of 'large white kidneys', as well as to the albuminuria-dependent lesion in renal disease. He also described in Bright's disease the effects of nitrogen-poor diets on specific gravity, albuminuria and urea excretion. It is evident from the renal literature from 1850 to 1908 that he achieved fame as a scientist, and that his theories on kidney disease were adopted in clinical practice.

Albuminuria↗
PubMed1997

Micronutrient deficiency in urban Indonesia.

The economic situation of Indonesia is characterized by a large increase in the gross national product which has been on average 7% annually during the last ten years. This was accompanied by rapid urbanization. With the economic improvement, "First World" and "Third World" health and nutrition problems are coexisting in Indonesia. In 1992, the most common of death cause was cardiovascular disease whereas tuberculosis was the second ranking. About 40% of the preschool children are stunted. The main stable food and energy source is rice, although the urban population has a more diverse food pattern than the rural population. In Jakarta, many children receive too late colostrum feeding and mothers are not aware about the importance of correct breastfeeding practices after delivery. Three studies had shown that about one fifth of preschool children and one fourth of elderly take micronutrient supplements. Nevertheless, micronutrient deficiencies are prevalent in Jakarta. About one third of women suffer from moderate vitamin A deficiency (plasma retinol < 0.70 mmol/L) and 50% of pregnant women are anemic. More information is necessary on other micronutrient deficiencies. For example, a small study revealed that nearly two thirds of non-institutionalized elderly living in Jakarta experience thiamine deficiency. Appropriate interventions to reduce micronutrient deficiencies should sensitize the urban population to the fact that the government should restrict itself to use its resources to assist only the poorest individuals and groups, whereas it must be expected from the middle class to spend more time and money to solve their own problems.

Deficiency Diseases↗