[Human genome project]
SASVÁRI-SZÉKELY Mária
FEBRUARY 20, 2003
Lege Artis Medicinae - 2003;13(02)
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.]
Lege Artis Medicinae
[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.]
Lege Artis Medicinae
Lege Artis Medicinae
[Diuretics are used almost in all fields of medical practice for treating patients in various conditions associated with or without oedema. They exert their effects through profound alterations in the fluid volumes, ion content of the body and in the osmoregulation. They act mainly on the kidneys but the functions of several other organs are also influenced including the heart and vessels, the lungs, liver and the brain. Summarising our knowledge on the diuretics is justified by the broadened use of these drugs and the differences regarding their site of action, potency, way of administration, dosing and side effects. The special indications for diuretic therapy and combined usage of different diuretics are also reviewed.]
Lege Artis Medicinae
[Author gives a review of the surgical procedures, advantages and disadvantages of urinary diversion and bladder replacement techniques. Orthotopic bladder replacement is presented in detail, outlining also the complications. The questions affecting general practitioners, as well as gynaecologists, surgeons and internists are also discussed at length. The different techniques of bladder replacement have become widely accepted in Hungary within the past few years. It is important therefore that all physicians involved in the care of these patients become well acquainted with the possible complications and the changes in the lifestyle of these patients.]
Lege Artis Medicinae
[In this review we summarise the current results of the genomic investigation of allergic diseases. From the genetic point of view allergy is multifactorial, which means that the susceptibility to the disease is determined by the effect of one or more genes or the interactions between multiple genes and involves important nongenetic factors such as the environment for their expression. Among allergic diseases the genomic background of asthma was studied most thoroughly. Until now, using hundreds of DNA markers, located across all of the human chromosomes, 16 genome-wide screens for susceptibility genes for asthma or asthma related intermediate phenotypes in 12 different populations have been published and 20 chromosomal regions have been highlighted for further analysis. In genetic association studies more than 500 genes were identified as candidate genes for asthma. In this review, we selected those results which were consistently reported by several independent studies or appeared particularly important or interesting. According to the results of the human genome programs and association studies we discuss the possible roles of candidate genes found in these loci in the pathomechanism of allergy and atopy.]
Lege Artis Medicinae
[Bioinformatics is one of the most important element of genomic research revolutionising biomedical science. This review describes the phenomena of genomic variance and comparative genomics. Briefly, the review summarises the identification procedure of new genes and gene expression patterns highly important in diagnostics. Bioinformatic procedures make possible the rapid detection of pathogens and have principal role in molecular drug design technologies.]
Clinical Neuroscience
[The investigation of schizophrenia’s aetiology and pathomechanism is of high importance in neurosciences. In the recent decades, analyzing event-related potentials have proven to be useful to reveal the neuropsychological dysfunctions in schizophrenia. Even the very early stages of auditory stimulus processing are impaired in this disorder; this might contribute to the experience of auditory hallucinations. The present review summarizes the recent literature on the relationship between auditory hallucinations and event-related potentials. Due to the dysfunction of early auditory sensory processing, patients with schizophrenia are not able to locate the source of stimuli and to allocate their attention appropriately. These deficits might lead to auditory hallucinations and problems with daily functioning. Studies involving high risk groups may provide tools for screening and early interventions; thus improving the prognosis of schizophrenia. ]
Lege Artis Medicinae
[Hypertension is one of the most common diseases with a prevalence of over 25%. Despite of the availability of modern therapeutic options, the proportion of well-controlled patients is low. Before starting the treatment of patients with hypertension, it is essential to assess cardiovascular risk factors, co-morbidities and damages to target organs, in addition to repeated blood pressure measurements. The author first reviews the non-pharmacological treatment options of hypertension, then summarizes the most important characteristics of first-line antihypertensive agents (diuretics, beta-receptor blockers, calcium channel antagonists, angiotensin converting enzyme inhibitors, angiotensin receptor blockers). Considering the complex pathomechanism of essential hypertension, the author details the advantages and options of combined antihypertensive therapy, touching on the combinations recommended in special conditions. The metabolic effects and side-effects of antihypertensive agents, which have recently gained increased significance, are also discussed. Modern hypertension care is aimed at maximally decreasing cardiovascular morbidity and mortality, and improving the patient's quality of life. Maximum decrease of cardiovascular risk not only involves proper blood pressure control, but also aggressive fight against other risk factors (e.g., diabetes, dyslipidaemia, smoking) and treatment of target organ damages and comorbidities.]
1.
2.
Clinical Neuroscience
Alexithymia is associated with cognitive impairment in patients with Parkinson’s disease3.
4.
5.
1.
Journal of Nursing Theory and Practice
[Examination of the Strength of Core- and Perineal Muscles in Case of Different Movements]2.
Journal of Nursing Theory and Practice
[Examination of Parental Treatment among Outgoing Ambulance Workers]3.
Journal of Nursing Theory and Practice
[BLS Quality Assessment – The Effectiveness of Telephone Cardiopulmonary Resuscitation Instruction]4.
Journal of Nursing Theory and Practice
[The History of the Founding of the first State School of Nursing ]5.
COMMENTS
0 comments