Abstract:
INTRODUCTION:In 1993 the gene responsible for Huntington's disease (IT15) was isolated [5]. It was mapped to the tip of the short arm of chromosome 4 and within its coding sequence, near the 5' end, it contained a certain number of trinicleotide (CAG)n (cytosine-adenine-guanine) repeats (Figure 1). This gene codes for a protein (348 kd) called "huntington" that is widely expressed, and its sequence is not related to any protein [6]. The normal range of (CAG)n repeat numbers within IT15 was reported to be between 6 and 37 [6]. Mutation responsible for Huntington's disease implied expansion of (CAG)n repeats: in patients with Huntington's disease the pathologic range was determined to be between 35 and 121 repeats [7-10]. PATIENTS AND METHODS:In this study we correlated the age at onset, rate of progression and initial symptoms of Huntington's disease with the number of trinucleotide (CAG)n repeats in IT15. DNA was isolated from peripheral blood leukocytes of patients fulfilling clinical criteria for definite and probable Huntington's disease [2]. Genetic verification of Huntington's disease was made by the previously described and modified PRC (polymerase chain reaction) technique [17, 18]. In our laboratory a gene with 40 or more repeats was considered as a marker of Huntington's disease. RESULTS:The study comprised 26 patients (11 women and 15 men). At the onset of Huntington's disease they were between 19 and 66 years old (36.6 12.8 years), with the duration of the disease between 1 and 15 years (5.8 4.3 years). The number of (CAG)n, repeats in IT15 ranged between 40 and 95 (49.9 14.1). The negative correlation between the (CAG)n, count in the expanded allele and the age at onset of the disease has been confirmed. Regression analysis showed the correlation coefficient of -0.54 (p = 0.012). The effect of trinucleotide (CAG)n, repeats on the initial clinical manifestations and rate of progression of Huntington's disease is only one of the growing group of "CAG-repeat" disorders that also include entities such as spinocerebellar ataxia-type 1 and 3, spinobulbar muscular atrophy and dentato-rubo-pallidoluysian atrophy [6].
journal_name
Srp Arh Celok Lekjournal_title
Srpski arhiv za celokupno lekarstvoauthors
Vojvodić N,Culjković B,Romac S,Stojković O,Sternić N,Sokić D,Kostić VSsubject
Has Abstractpub_date
1998-03-01 00:00:00pages
77-82issue
3-4eissn
0370-8179issn
2406-0895journal_volume
126pub_type
杂志文章abstract::Acalculia is an acquired disturbance of calculation that has several clinical expressions. Disturbances cna be aphasic and nonaphasic. Further division is into alexia and agraphia for numbers, anarithmetria and spatial acalculia. In addition to these manifestations due to focal cerebral lesions also diffuse lesions ca...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1997-11-01 00:00:00
abstract:INTRODUCTION:Correct choice of osteosynthesis method is a very important factor in providing the optimal conditions for appropriate healing of the fracture. There are still disagreements about the method of stabilization of some long bone fractures. Critically observed, no method of fracture fixation is ideal. Each ost...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh1402040g
更新日期:2014-01-01 00:00:00
abstract::The clinical end-point of all causes of mortality and cardiovascular hospitalisation (combined end-points) is a widely accepted indicator of heart failure survival. The primary aim of this study was to examine the effects of metoprolol and atenolol on combined end-points in patients with mild-to-moderate heart failure...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章,随机对照试验
doi:10.2298/sarh0506242c
更新日期:2005-05-01 00:00:00
abstract::This is a case report of 26-year old, advanced university student of the Faculty of Science, Department of Mathematics, single. He has never been a psychiatric patient, but being unable to suppress the gambling impulse, he presented for treatment, on his own initiative, to the outpatient department. Patient met the cr...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh0602060m
更新日期:2006-01-01 00:00:00
abstract::Chlamydia trachomatis is an ubiquitous bacterium, strictly intracellular organism. The D-K serovars urethritis, cervicitis, endometritis, salpingitis, periappendicitis and perihepatitis, in women, urethritis, prostatitis, epididymitis and Reiter's syndrome in 1-2% of cases in men. Sterility is the most serious complic...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1996-01-01 00:00:00
abstract::Pulmonary function in 25 patients with a severe degree of kyphoscoliosis was studied. Severe restrictive ventilatory insufficiency and hypoxaemic-hypercapnic respiratory failure were discovered. Isolated deformities of the vertebral column were diagnosed in 15 patients while ten patients, apart from diagnosed kyphosco...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1996-03-01 00:00:00
abstract::This review is a brief overview of recent advances in biology as well as in potential clinical application of recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF). Biologically active rhGM-CSF is a recombinant human protein expressed in Escherichia coli. GM-CSF is produced by nontransformed (T...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章,评审
doi:
更新日期:1993-08-01 00:00:00
abstract:INTRODUCTION:Associated bone tissue defect and infection, commonly result in non-healing, i.e., by the development of infected tibial nonunion. OBJECTIVE:The aim of the paper was to present experiences acquired in the treatment of this problem by the application of the Ilizarov method. METHODS:The analyses enrolled 1...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章,多中心研究
doi:10.2298/sarh1202065v
更新日期:2012-01-01 00:00:00
abstract:INTRODUCTION:Congenital nephrotic syndrome is usually presented with heavy proteinuria, hypoproteinaemia, oedema and hyperlipidaemia in a child from its birth until the age of 3 months. Aetiology of the disease is mutation in the relevant gene or it develops secondary to various infections. The most common form of cong...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh08s4307s
更新日期:2008-12-01 00:00:00
abstract::Doctor Svetislav Sp. Barjaktarovitsh (1893-1971), full professor of University School of Medicine in Belgrade, Head of the Department of Gynaecology and Obstetrics since its foundation, Director of the University Teaching Hospital of Gynaecology and Obstetrics from 1937 to 1948, was dismissed from University for polit...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 传,历史文章,杂志文章
doi:
更新日期:2002-09-01 00:00:00
abstract::In three patients (mean age about 3 years) we established excretory tract duplication with obstructed ectopic ureter, a function of the upper pole and ectopic ureterocele. Diagnostic procedure was different in each case. Ultrasonography was the most important diagnostic method in all cases; it usually showed all main ...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1991-01-01 00:00:00
abstract:INTRODUCTION:Psychiatric treatment in developed countries has significantly changed in the last few decades, with a significant shortening of the duration of hospitalization. Numerous West European countries are undertaking health system reforms to improve treatment efficiency. OBJECTIVE:The aim of the study was to pr...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:2011-12-01 00:00:00
abstract:INTRODUCTION:Vascular remodelling is an adaptive process involving the adjustment of the structure and function of blood vessels to long-term changes in haemodynamic conditions. This process leads to structural alterations within vessel walls in different cardiovascular diseases, such as hypertension, atherosclerosis, ...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh06s1009l
更新日期:2006-05-01 00:00:00
abstract::The study concerned pathogenetic mechanisms of occurrence of tuberculous meningitis and modern recommendations for therapy. Meningitis has never been a primary localization of tuberculous infection, but the latter appears by dissemination from some primary, extrameningeal focus which is frequently clinically unapparen...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1996-01-01 00:00:00
abstract:INTRODUCTION:Gastroesophageal reflux is a frequent disease which has a significant influence on the development of dental erosions. OBJECTIVE:The aim of this research was to determine the frequency of dental erosions among the patients with gastroesophageal reflux, as well as to verify the most common symptoms of gast...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh1006292s
更新日期:2010-05-01 00:00:00
abstract::The urinary tract infection is very frequent, especially if calculosis of the urinary tract is present. Urinary infection is widespread, and it appears during the year. The people of all ages and both sexes are affected by urinary infection. In the last few years a reliable progress in the understanding and management...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1997-09-01 00:00:00
abstract:INTRODUCTION:Classically, coarctation of the aorta has been divided into infantile and adult forms. The vascular malformation responsible for coarctation is a defect of the vessel intima and media giving rise to a prominent posterior infolding ("the posterior shelf") which, in some cases, may extend around the entire c...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh04s1066v
更新日期:2004-10-01 00:00:00
abstract::Ewing's tumor of bone is the second primary malignant bone tumor. Localized lesion is found in nearly 80% of cases and metastatic lesions are present in 20% at the time of diagnosis. Treatment protocols were analyzed, prognostic parameters were evaluated, and overall survival as well as survival until relapse of disea...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh0610420s
更新日期:2006-09-01 00:00:00
abstract::The aim of this work is to evaluate cytologic examination of secretions of nose and maxillary sinuses in patients with naso-sinusal disorders. The material for cytologic examination is taken from 128 nasal cavities of 101 patients with inflammation or tumour diseases of nose and maxillary sinuses, and from 114 maxilla...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:2002-05-01 00:00:00
abstract::From the historical point of view, there are three time periods when the process of modernization of Serbian society took place. First period includes the interval from the beginning of the 19th century until the end of World War I, when the Serbian country was reestablished as Serbian Knezevina (princedom) and in 188...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 历史文章,杂志文章
doi:
更新日期:2013-11-01 00:00:00
abstract::The purpose of this study was to analyse, by immunomorphometry, megakaryocytopoiesis in patients with myelodysplatsic syndrome. The results revealed that, in spite of marked megakaryocyte hyperplasia, patients with myelodysplastic syndrome suffer from severe peripheral thrombocytopenia. Megakaryocytes in myelodisplast...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1992-11-01 00:00:00
abstract:INTRODUCTION:Despite numerous advances in medicine, the mortality rate of severe sepsis and septic shock remains high, 30-50%. New therapy strategies include: early goal-directed therapy, fluid replacement, early and appropriate antimicrobials, source of infection control, use of corticosteroids, vasopressors and inotr...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh0806248j
更新日期:2008-05-01 00:00:00
abstract::Adhesive molecules are (glyco)proteins of the cellular membranes. All of them have their extramembranous, transmembranous and intracytoplasmatic parts. As receptor molecules, their extracellular parts bind the specific ligand. The ligand can be found on the surface of the other cell or in the extracellular matrix (bas...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章,评审
doi:
更新日期:1998-05-01 00:00:00
abstract:INTRODUCTION:Endovascular aneurysm repair (EVAR) has been introduced into clinical practice at the beginning of the 90's of the last century. Because of economic, political and social problems during the last 25 years, the introduction of this procedure in Serbia was not possible. OBJECTIVE:The aim of this study was t...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh0902010d
更新日期:2009-01-01 00:00:00
abstract::Causes of eyeball loss in patients over 15 years of age are analyzed, over the period from the beginning of 1966 to the end of 1987. Data from the files of the Ophtalmopathologic Laboratory, Department of Eye Diseases, UCC, Belgrade, were used. In the period of 22 years 2067 eyeballs were enucleated, the procedure bei...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1989-09-01 00:00:00
abstract::Percutaneous transluminal septal myocardial ablation (PTSMA) is becoming more and more significant in the therapy of symptomatic patients with hypertrophic obstructive cardiomyopathy (HOCM). We report on the first successful PTSMA done in Yugoslavia in a 65-year old female patient with HOCM and in NYHA functional clas...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:2001-07-01 00:00:00
abstract:INTRODUCTION:Term breech presentation occurs in 3-4% of all deliveries. Most obstetricians are completely sure how to end delivery when the foetus is in breech presentation, by caesarean section as the only option. OBJECTIVE:The main goal of the paper was to present the method of delivery for term breech presentation ...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh1104155d
更新日期:2011-03-01 00:00:00
abstract::The article deals with the analysis of treatment of 46 adult patients with acute lymphoblastic leukaemia over the period from 1981 to 1988. None of these patients had signs of central nervous system leukemia at the time of diagnosis. 11/46 (23.9%) of patients had a central nervous system leukaemia: a) 3/13 (23.1%) of ...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1989-11-01 00:00:00
abstract::Inflammatory response in tissue results from a complex network of interactions between inflammatory cells (mast cells, eosinophils, basophils, macrophages) and resident cells belonging to the lung structure (like endothelial cells, fibroblasts, epithelial cells). Among structural cells, endothelial cells play a critic...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章,评审
doi:
更新日期:1998-03-01 00:00:00
abstract:INTRODUCTION:Alveolar adenoma belongs to the group of benign epithelial tumours. Histogenesis of alveolar adenoma is a combination of proliferation of alveolar pneumocytes and fibrous tissue originating from septal mesenchyma. CASE OUTLINE:A sixty-nine-year old female patient was hospitalizied for clinical examination...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh0708461s
更新日期:2007-07-01 00:00:00