ABSTRACT
BACKGROUND: Triple A or Allgrove Syndrome (OMIM#231550) is a rare, autosomal recessive genetic disorder in which patients typically suffer from chronic adrenal insufficiency due to resistance to ACTH (Addison's disease), esophageal achalasia, and defective tear formation (alacrima). The syndrome is caused by mutations in the AAAS gene on chromosome 12q13 encoding a 546 aminoacid protein named alacrimia-achalasia-adrenal insufficiency neurologic disorder (ALADIN), a constituent of eukaryotic nuclear pore complexes. CASE REPORT: We describe a case of Allgrove Syndrome presenting with anhidrosis and peculiar dental features resembling those of Ectodermal Dysplasia (ED). CONCLUSION: Given the clinical findings in this case we suggest the hypothesis that the pathogenetic mechanism in Allgrove syndrome is related to the ED.
Subject(s)
Adrenal Insufficiency/diagnosis , Esophageal Achalasia/diagnosis , Tooth Abnormalities/pathology , Adrenal Insufficiency/pathology , Child , Ectodermal Dysplasia/pathology , Esophageal Achalasia/pathology , Humans , Male , Radiography, PanoramicABSTRACT
In the Amiata Mountain area of Tuscany, Italy, a survey has examined the concentrations of mercury and selenium in the environment, in the food chain, and in human biological samples of blood, urine, and hair. This area was selected for study because of its large mineral deposits and concentration of elements, e.g., iron, copper, silver, antimony, and particularly mercury. Subjects consisted of a group with high occupational exposure to mercury vapor, a group randomly exposed to mercury dust, and a group nonoccupationally exposed to mercury. The selenium and mercury contents in all samples were determined by nondestructive neutron activation analysis, and results showed that the human metabolism of mercury is different from that of selenium and that the selenium retention in man could be influenced by the mercury intake. Furthermore, a great part of selenium introduced through the diet passes into the blood, where it is mainly associated with blood cells.
Subject(s)
Environment , Food Analysis , Mercury , Selenium , Adolescent , Adult , Environmental Exposure , Female , Humans , Italy , Male , Mercury/analysis , Mercury/metabolism , Metallurgy , Middle Aged , Mining , Neutron Activation Analysis , Occupational Medicine , Selenium/analysis , Selenium/metabolismABSTRACT
No data are available on Selenium concentration in the Italian environment in spite of its importance as an essential and toxic element. In order to get some information about the concentration and distribution of this element in the environment and in the food-chain, a survey has been made in the Monte Amiata area (Toscana, Italy). Such an area was selected for this study owing to its large mineralization due to many elements (e.g. Fe, Cu, Ag, Sb and particularly Hg). The selenium content has been determined by thermal neutron activaltion analysis and a large volume high-resolution Ge-Li gamma ray spectrometer connected on line to a DEC PDP 8/L computer. The instrumental method requires neither a chemical separation technique nor a pre-or post-concentration of Selenium. The Selenium concentration for wet weight in foodstuffs ranges between a value of 0.008 ppm in milk and a value of 0.2 ppm in chicken. The average Se intake for the population living in the area under investigation has been also estimated. A critical discussion of the data is reported together with a comparison with the Se concentration values referring to other countries.
