Lege Artis Medicinae

[Human genome project]

SASVÁRI-SZÉKELY Mária

FEBRUARY 20, 2003

Lege Artis Medicinae - 2003;13(02)

[The main goal of the Human Genom Project is to reveal the complete structure of the human DNA, involving the sequence determination of the three billion basepairs. The program was launched in 1990, executed in laboratories of the public sector in several countries. Results of this project are made public on the Internet. In 1998 a private sector company, Celera, was founded with the same goal. In 2001 both projects announced the accomplishment of the first draft of the Human Genome. A whole issue of Nature and Science magazine was devoted to present the first results of their findings. According to the results less than one percent of the genetic information is transcribed to proteins. The estimated number of genes was also lower than expected (30-40 thousand, which number recently increased to 40-60 thousand). Based on these findings, human complexity should be ascribed to the variability of the information units (domains) rather than to the number of genes. Once the complete sequence of the humane genome is accomplished, the ’pre-genomic era’ will be over and the ’post-genomic era’ will begin, dealing with understanding the genetic information, annotating the genes and mapping the genetic variability of people.]

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Lege Artis Medicinae

[Evaluation of bone mineral density in renal form of primary hyperparathyroidism]

CSUPOR EMŐKE, SZŰCS János, MÉSZÁROS SZILVIA, LAKATOS Péter, TÓTH EDIT, HORVÁTH CSABA

[INTRODUCTION - The most frequent manifestations of primary hyperparathyroidism are renal stones or calcipenic osteopathy. The aim of authors was to examine how bones are affected (change of bone mineral density and frequency of fractures) in the renal form of primary hyperparathyroidism. METHODS - Mean age of the patients was 57 years (26 -81 years), (4 men, 33 women). Bone mineral density was measured in the lower third of the radius, femoral neck and lumbar 2-4 vertebrae by densitometers. Moreover, occurrence of fractures and biochemical parameters characteristic for hyperparathyroidism (serum parathyroid hormone levels, calcium, phosphorus, alkaline phosphatase, urinary calcium/ creatinine) were examined. RESULTS - Bone mineral density was normal in 6 cases, osteopenic in 10 patients and 21 patients had osteoporosis. Altogether five patients had fractures. Bone mineral density and biochemical parameters were not different in patients with or without fractures. CONCLUSIONS - Bone mineral density decreases in renal form of primary hyperparathyroidism even if there is no bone disease in the clinical picture. Therefore, bone mineral density measurement is advisable for every patient with hyperparathyroidism.]

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Lege Artis Medicinae

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