Rehabilitation of patients with myocardial revascularization:: prognostic significance of cardiopulmonary exercise test

Kardiovaskularne bolesti (KVB) su vodeći uzrok smrti, kako u svetu tako i u našoj zemlji. Od svih KVB, najčešća je koronarna bolest srca koja je udružena sa najvećom stopom morbiditeta i mortaliteta do 25%. Kardiološka rehabilitacija (CR, od engl. Cardiac Rehabilitation) je skup aktivnosti i intervencija potrebnih za postizanje najboljeg mogućeg fizičkog, mentalnog i socijalnog stanja pacijenata sa KVB. Cilj: Ispitati uticaj i efekat tronedeljnog programa CR na poboljšanje funkcionalnog kapaciteta procenjenog CPET-om (od engl. Cardio Pulmonary Exercise Testing) i proceniti održivost efekata u periodu od šest meseci od okončanja programa CR kod pacijenata nakon perkutane i hirurške revaskularizacije miokarda. Metode: U ovoj studiji je uključeno 120 pacijenata (111 muškaraca, prosečne starosti 54,90 ± 8,80 i 9 žena, prosečne starosti 55,70 ± 5,20) podeljenih u III grupe. Grupa I koju je činilo 40 pacijenta (38 muškaraca i 2 žene) lečenih CABG (od engl. Coronary Artery Bypass Grafting). Grupa II koju je činilo 40 pacijenta (39 muškaraca i 1 žena) lečenih PCI (od engl. Percutaneous Coronary Intervention). Grupa III koju je činilo 40 pacijenta (34 muškaraca i 6 žena) lečenih Ele.PCI (od engl. Elective Percutaneous Coronary Intervention). Fizički trening se sastojao od dve trening sesije. Prve jutarnje sesije trajanja do 60 minuta sa aerobnim intervalnim treningom (3 minuta treninga i 3 minuta odmora) na biciklergometru. Kao i hoda preko Nyllinovog stepenika. Sesija je sadržala: vežbe zagrevanja 10 minuta, trening fazu trajanja do 45 minuta i potom fazu 5-to minutnog hlađenja. Druga, popodnevna sesija, koncipirana je od hoda po ravnom brzinom 3 do 5 km na čas (kontinuirani trening). Trajanje ove sesije je bilo individualno i svakodnevno je povećavano. Svim pacijentima I i II grupe posle tronedeljnog hospitalnog programa CR savetovan je program aerobnog fizičkog treninga koji se sastojao od šetnji brzinom 5 km/h, u trajanju od 60 min, 3-5 puta nedeljno, ciljanog intenziteta od 70% do 85% maksimalne srčane frekvence postignute na CPET-u nakon tronedeljnog programa hospitalne CR, koji su oni, uz vođenje dnevnika, sprovodili u trajanju od šest meseci kod kuće...Cardiovascular diseases (CVD) are the leading cause of death in the world and in our country. From all CVD, the most common is coronary heart disease which is associated with the highest morbidity and mortality by 25%. Cardiac rehabilitation (CR) is a set of activities and interventions needed to achieve the best possible physical, mental and social condition of patients with CVD. Aim: To examine the impact and effect of the three-week CR program to improve functional capacity estimated with CPET (Cardio Pulmonary Exercise Testing) and assess the sustainability of the effects of a period of six months from the end of the CR program in patients after percutaneous and surgical revascularization of myocardium. Methods: This study included 120 patients (111 males, mean age 54.90 ± 8.80 and 9 female, mean age 55.70 ± 5.20) who were divided into three groups. Group I consisted of 40 patients (38 men and 2 women) treated with CABG (Coronary Artery Bypass Grafting). Group II consisted of 40 patients (39 men and 1 women), treated with PCI (Percutaneous Coronary Intervention). Group III consisted of 40 patients (34 men and 6 women) treated with Ele.PCI (Elective Percutaneous Coronary Intervention). Physical training consisted of two training sessions. First morning sessions lasting up to 60 minutes with aerobic training interval (the training 3 minutes and 3 minutes of rest) on the ergo cycle. As an and walk through the Nyllin stairs. A session is contained of the: warm-up exercises for 10 min, a training phase of 45 minutes duration, and then 5 minute cooling phase. The second afternoon session, conceived by walking on a flat rate of 3 to 5 km per hour (continuous training). The duration of this session is an individual, and every day is increased. For all patients from first and the second group after a three-week hospital CR program, aerobic exercise training program is advised, consisting of a walking speed of 5 km/h, for 60 min, 3-5 times a week, a target intensity of 70% to 85% from maximum heart frequency achieved on CPET, which they, along with keeping a journal, conducted for a period of six months at home. All patients performed symptom-limited CPET on a bicycle ergometer with a ramp protocol of 10 W/minute..

EFFECT OF SIMVASTATIN TREATMENT ON BONE MINERAL DENSITY IN HYPERCHOLESTEROLEMIC POSTMENOPAUSAL WOMEN

Statins are able to reduce cardiovascular morbidity and mortality mainly through their hypocholesterolemic effect. Beyond the inhibition of cholesterol synthesis, the identification of pleiotropic mechanisms has motivated many studies to evaluate the effects of statin use on bone mineral density (BMD) modification.The aim of our study was to evaluate whether simvastatin treatment (20 mg/d) could modify BMD in hypercholesterolemic women (n=28) after one-year treatment as compared with a control group treated only with a diet (n=11). The exclusion criteria was current or previous therapy with statins, bisphosphonates and/or estrogens. The following parameters were determined at the beginning and after one year, and those are: total cholesterol, triglycerides, HDL-C and LDL-C (Friedewald equation). The BMD was measured at the lumbar spine by dual energy x-ray absorpiometry (DEXA).In the simvastatin treated group, BMD showed an insignificant 2,812% increase after 12 months, respectively (0,965+0,111 v 0,992+0,110, P>0,05). The group treated only with hypolipidic diet demonstrated a 3,45% decrease in BMD (respectively, 1,042+0,181 v 1.006+0,182; P>0,05) after 12 months. Nevertheless, the comparison of average BMD changes between the two examined groups during one year showed a significant value diference (-0,027+0,037 v 0,036+0,036; P<0,0006).As partly suggested by retrospective or observational data, this longitudinal study indicates that simvastatin treatment achieves a beneficial effect on BMD

Distribution of Killer Cell Immunoglobulin-Like Receptor Genes in Albanians from Republic of Macedonia

AIM: The aim of this study was to analyze Killer Ig-Like Receptor (KIR) gene polymorphisms in Albanians from Republic of Macedonia.MATERIAL NA METHODS: The studied sample consists of 104 healthy unrelated individuals, aged 20-45 years. All individuals are of Albanian nationality, residents of different geographical regions (Skopje, Gostivar, and Tetovo) in Republic of Macedonia. The population genetics analysis package, Arlequin, was used for analysis of the data.RESULTS: All 16 KIR genes known were observed in the Albanian individuals and framework genes (KIR3DL3, KIR3DP1, KIR2DL4, and KIR3DL2) were present in all individuals. The frequencies of other KIR genes were: KIR2DP1 (0.981), KIR2DL1 (1), KIR2DL2 (0.615), KIR2DL3 (0.865), KIR2DL5 (0.414), KIR3DL1 (0.933), KIR2DS1 (0.462), KIR2DS2 (0.606), KIR2DS3 (0.327), KIR2DS4 (0.875), KIR2DS5 (0.298), and KIR3DS1 (0.442). Tested linkage disequilibrium (LD) among KIR genes demonstrated that KIR genes present a wide range of linkage disequilibrium.CONCLUSION: This is the first study analyzing the polymorphism of KIR genes and genotype frequencies in Albanian individuals in the world. The results can be used for anthropological comparisons.

Food Allergy Based on Serum Specific IgE in Republic of Macedonia

ОСÐОВÐ:  Ðлергијата кон храна Ñе дефинира како неÑакан имун одговор кој Ñе јавува при повторувачки изложувања на било кој вид на храна и може да биде поÑредувана Ñо имуноглобулин Е (ИгЕ) противтела или не – ИгЕ поÑредувана. ÐлергиÑката реакција кон храна е доÑта чеÑта и Ñпоред поÑледните иÑтражувања Ñе јавува кај 6-8% од децата, а во поÑледните три декади забележан е пораÑÑ‚ во инциденцата на алергии кон храна. Доколку Ñе Ñомневаме за ИгЕ поÑредувана реакција на храната треба да Ñе направат лабораториÑки иÑпитувања и да Ñе одредат вкупните и Ñпецифичните ИгЕ противтела кон различните видови на храна.ЦЕЛ: Целта на овој труд е да Ñе преÑмета и прикаже процентот на алергии на храна во Република Македонија на оÑнова на позитивен наод на ИгЕ противтела во Ñерумот на пациенти упатени на ИнÑтитутот за имунобиологија и хумана генетика за алерголошки теÑтирања во деÑетгодишен период (2001-2011).ÐœÐТЕРИЈÐЛ И МЕТОДИ: Ðнализирани Ñе ретроÑпективно конÑекутивни пациенти во деÑет годишен период (од 01.01.2001 до 01.01.2011 година), упатени на ИнÑтитутот за имунобиологија и хумана генетика при МедицинÑкиот факултет во Скопје за иÑпитување на алергии. Ðнализите Ñе направени на 3312 иÑпитаника (пациенти) за кои имаме точни податоци за меÑтото од кое потекнуваат, за возраÑта и кај кои Ñе одредени вредноÑтите за вкупниот ИгЕ во Ñерумот, како и вредноÑтите за Ñпецифичните ИгЕ противтела наÑочени кон алергени од храната. Ðнализите за одредување на вкупен ИгЕ и Ñпецифичен ИгЕ во Ñерумот кај пациентите Ñе изработени на UniCAP100 System; Pharmacia, Uppsala, Sweden.РЕЗУЛТÐТИ: При анализата на диÑтрибуцијата на бројот на пациенти во Ñекоја група на концентрација на вкупниот ИгЕ покажуваат дека најголем дел од пациентите имале нормални вредноÑти за вкупниот ИгЕ во Ñерумот. Од вкупно 3312 пациенти Ñо Ñомневање за поÑтоење на ИгЕ поÑредувана алергија на храна кај 2367 Ñме добиле негативен наод за поÑтоење на зголемени нивоа на ИгЕ противтела, а Ñамо кај 945 иÑпитаници Ñме докажале поÑтоење на ИгЕ поÑредувана алергија на храна. ÐајчеÑтите позитивни алергени Ñе: белка од јајце, млеко, варено млеко, пченица, кикирики, протеини на млеко, лешник и јаболко, а од групно Ñпецифичните Ñе: Ñмешата од храна и Ñмешата од овошје.ЗÐКЛУЧОЦИ: Големиот број на негативни резултати ја покажува и потребата од зголемување на бројот на алерголошки лаборатории низ Република Македонија како и зголемување на едукацијата на матичните лекари преку Ñеминари, конференции и предавања. Ова е првата Ñтудија во Република Македонија за алергии кон храна во која Ñе прикажани резултати на оÑонова на добиените вредноÑти на Ñпецифични ИгЕ противтела кон различни алергени од храна во Ñерум.BACKGROUND: Food allergy is defined as an adverse immune response during repetitive exposure to any kind of food and may be mediated by immunoglobulin E (IgE) antibodies or not - IgE mediated. Food allergies are common and according to recent studies they occur in 6-8% of children, and in the last three decades there has been an increase in the incidence of food allergies. In IgE-mediated food reaction we should make laboratory tests to determine the total and specific IgE antibodies to various foods.AIM: The aim of this paper is to demonstrate the percentage of food allergies in the Republic of Macedonia based on positive IgE antibodies in the serum of patients referred to the Institute of Immunobiology and Human Genetics for allergies testing in ten year period (2001-2011).MATERIAL AND METHODS: Consecutive patients in ten year period (from 01.01.2001 to 01.01.2011), addressed to the Institute of Immunobiology and Human Genetics at the Medical Faculty tested for allergies were analyzed retrospectively. Three thousand and twelve (3312) patients with data for place of residence, age and serum values for  total IgE, specific IgE and group-specific IgE to food allergens were analyzed. The determination of total IgE and specific IgE for food allergens was performed with the UniCAP100 System (Pharmacia, Uppsala, Sweden).RESULTS: Analyzes of the distribution of the number of patients in each group of concentration of total IgE showed that most patients had normal serum total IgE levels. From a total of 3312 patients with suspected IgE-mediated food allergy, 2367 were found negative and only in 945 patients we determined the existence of IgE-mediated food allergy. The most common allergens in our study were: egg white, milk, boiled milk, wheat, peanuts, milk proteins, hazelnut and apple and from the group - specific allergens most common were food mixture and fruit mixture.CONCLUSIONS: The large number of negative results suggested the need for increasing the number of Allergologic Laboratories in Republic of Macedonia and increase of the need for better education of primary care physicians through seminars, conferences and lectures. This is the first study in the Republic of Macedonia for food allergies in which the presented results are based on the obtained specific IgE antibodies values in the sera of patients towards different food allergens

Total IgE Distribution in Food Allergy Suspected Patients in Republic of Macedonia (2001-2011)

BACKGROUND: IgE may be considered the hallmark of allergic disorders. It is easily detected in serum and can be measured as total IgE and as allergen-specific IgE. In fact, the serum IgE assay is used to diagnose an allergy.AIM: The aim of this study is to evaluate, investigate and present the distribution of total serum IgE levels, determined with UniCap system, in food-allergy suspected patients in a Republic of Macedonia.MATERIAL AND METHODS: In this study we analyzed retrospectively 8898 consecutive patients that were admitted for allergy testing at the Institute of Immunobiology and Human Genetics during the ten year period between 01.01.2001 and 01.01.2011. Total IgE levels in patient sera were detected with the in vitro system UniCAP100 (Pharmacia, Uppsala, Sweden).RESULTS: When we analyzed the number of patients according to the total IgE groups, we noted that most of the patients have normal levels of total IgE in serum. However, we also discovered a group of patients with elevated levels of total IgE that are greater than 200 kU/L. The average concentration of total serum IgE is higher in women in the age group 6 (6-7 years), followed by a steep decrease in the age group 9 (9-10 years), and after that the average concentrations of total IgE were mostly constant with the exception of a partial increase in the age group 21 (65-69 years). For men, the average serum concentrations of total IgE were highest in the age group of 6 (6-7 years), which was significantly higher than the average concentrations of total IgE in all other age groups.CONCLUSION: The large number of enrolled patients, a particular strength of this study, revealed that average concentrations of total IgE in men are higher than in women and that total IgE did not decrease with age. On the contrary, increased total IgE levels were found in patients aged 65 and 69 of both genders. We continue our work with analyses of the specific IgE antibodies values toward food and the correlation with total IgE values

Association of Methylenetetrahydrofolate Reductase (MTHFR-677 and MTHFR-1298) Genetic Polymorphisms with Occlusive Artery Disease and Deep Venous Thrombosis in Macedonians

Cilj Ispitati moguću povezanost genetičkog polimorfizma metilen-tetrahidrofolatne reduktaze (MTHFR-677, MTHFR-1298) s okluzivnom arterijskom bolešću i dubokom venskom trombozom u Makedonaca. Postupci Radili smo s 83 zdrave osobe, 76 bolesnika s okluzivnom arterijskom bolešću i 67 bolesnika s dubokom venskom trombozom. Od njih su prikupljeni su uzorci krvi i iz leukocita je izolirana DNA. Mutacije gena za MTHFR identificirane su testom CVD StripAssay (ViennaLab, Labordiagnostika GmbH, Beč, Austrija), a za analizu je uporabljen sustav za genetičku analizu PyPop. Potom su izračunani Pearsonove P vrijednosti, grubi omjer izgleda (odds ratio, OR) i Waldovi 95% intervali pouzdanosti (confidence intervals, CI). Rezultati Frekvencija alela C lokusa za MTHFR-677 bila je 0,575 u bolesnika s dubokom venskom trombozom, 0,612 u onih a okluzivnom arterijskom bolešću i 0,645 u zdravih osoba. Frekvencija alela T lokusa za MTHFR-677 bila je niža u zdravih osoba (0,355) nego u bolesnika s okluzivnom arterijskom bolešću (0,388) i dubokom venskom trombozom (0,425). Frekvencija alela A u lokusu MTHFR-1298 bila je 0,729 u zdravih osoba, 0,770 u bolesnika s okluzivnom arterijskom bolešću i 0,746 u bolesnika s dubokom venskom trombozom. Frekvencija alela C lokusa za MTHFR-1298 bila je 0,271 u zdravih osoba, 0,230 u bolesnika s okluzivnom arterijskom bolešću i 0,425 u bolesnika s dubokom venskom trombozom. Nije opažena povezanost polimorfizma MTHFR-677 i MTHFR-1289 s okluzivnom arterijskom bolešću ili dubokom venskom trombozom, nego se samo pokazao protektivni učinak diplotipa MTHFR/CA:CC za okluzivnu arterijsku bolest. Zaključak Osim protektivnoga učinka diplotipa MTHFR/CA:CC za okluzivnu arterijsku bolest, nismo našli značajnu povezanost polimorfizma lokusa MTHFR-677 i MTHFR-1289 s okluzivnom arterijskom bolešću i dubokom venskom trombozom.Aim To analyze the association of methylenetetrahydrofolate reductase polymorphisms (MTHFR-677 and MTHFR-1298) with occlusive artery disease and deep venous thrombosis in Macedonians. Methods We examined 83 healthy respondents, 76 patients with occlusive artery disease, and 67 patients with deep venous thrombosis. Blood samples were collected and DNA was isolated from peripheral blood leukocytes. Identification of MTHFR mutations was done with CVD StripAssay (ViennaLab, Labordiagnostika GmbH, Vienna, Austria) and the population genetics analysis package, PyPop, was used for the analysis. Pearson P values, crude odds ratio, and Wald’s 95% confidence intervals were calculated. Results The frequency of C alleles of MTHFR-677 was 0.575 in patients with deep venous thrombosis, 0.612 in patients with occlusive artery disease, and 0.645 in healthy participants. The frequency of T allele of MTHFR-677 was lower in healthy participants (0.355) than in patients with occlusive artery disease (0.388) and deep venous thrombosis (0.425). The frequency of A allele for MTHFR-1298 was 0.729 in healthy participants, 0.770 in patients with occlusive artery disease, and 0.746 in patients with deep venous thrombosis. The frequency of C allele of MTHFR-1298 was 0.271 in healthy participants, 0.230 in patients with occlusive artery disease, and 0.425 in patients with deep venous thrombosis. No association of MTHFR-677 and MTHFR- 1289 polymorphisms with occlusive artery disease and deep venous thrombosis was found, except for the protective effect of MTHFR/CA: CC diplotype for occlusive artery disease. Conclusion We could not confirm a significant association of MTHFR- 677 and MTHFR-1289 polymorphisms with occlusive artery disease or deep venous thrombosis in Macedonians, except for the protective effect of MTHFR/CA:CC diplotype against occlusive artery disease

Immunonephelometry and Reverse Hybrydization Genotyping in Diagnosis of Alpha-1-Antitrypsin Deficiency in Macedonians

BACKGROUND: With a frequency of 1:1600, the alpha-1-antitrypsin deficiency is one of the most frequent hereditary diseases and can be recessively inherited. AAT deficiency is most often caused by inheritance of the so-called PiZ allele. Inheritance of this allele increases the risk of developing chronic obstructive pulmonary diseases (COPD) and liver disease.AIM: The aim of this study was to present immunonephelometry and reverse hybridization genotyping in diagnosis of alpha-1-antitrypsin deficiency in Republic of Macedonia.MATERIAL AND METHODS: At the Institute of Immunobiology and Human Genetics, part of the Faculty of Medicine in Skopje, in the previous 7 years, total of 361 patients with suspected alpha-1-antitrypsin (AAT) deficiency were referred for analysis of AAT concentration using nephelometry (Dade Behring) and subsequent AAT genotyping of individuals with alpha-1-antytripsin deficiency at protein level, based on reverse hybridization technique.RESULTS: Measurement of AAT concentration (g/l) by nephelometry have shown normal level in the range of 1.37-1.41 g/l (88%), lower than normal AAT levels in the range of 0.70-0.83 g/l (8.03%), and concentration above the normal levels in the range of 2.28-2.4 g/l (3.88%).CONCLUSION: Diagnosis in the case of a suspicion of AAT deficiency is carried out by measuring the alpha-1-antitrypsin level in blood and by genotyping of alpha-1-antytripsin allele

Rehabilitation of patients with myocardial revascularization:: prognostic significance of cardiopulmonary exercise test

Kardiovaskularne bolesti (KVB) su vodeći uzrok smrti, kako u svetu tako i u našoj zemlji. Od svih KVB, najčešća je koronarna bolest srca koja je udružena sa najvećom stopom morbiditeta i mortaliteta do 25%. Kardiološka rehabilitacija (CR, od engl. Cardiac Rehabilitation) je skup aktivnosti i intervencija potrebnih za postizanje najboljeg mogućeg fizičkog, mentalnog i socijalnog stanja pacijenata sa KVB. Cilj: Ispitati uticaj i efekat tronedeljnog programa CR na poboljšanje funkcionalnog kapaciteta procenjenog CPET-om (od engl. Cardio Pulmonary Exercise Testing) i proceniti održivost efekata u periodu od šest meseci od okončanja programa CR kod pacijenata nakon perkutane i hirurške revaskularizacije miokarda. Metode: U ovoj studiji je uključeno 120 pacijenata (111 muškaraca, prosečne starosti 54,90 ± 8,80 i 9 žena, prosečne starosti 55,70 ± 5,20) podeljenih u III grupe. Grupa I koju je činilo 40 pacijenta (38 muškaraca i 2 žene) lečenih CABG (od engl. Coronary Artery Bypass Grafting). Grupa II koju je činilo 40 pacijenta (39 muškaraca i 1 žena) lečenih PCI (od engl. Percutaneous Coronary Intervention). Grupa III koju je činilo 40 pacijenta (34 muškaraca i 6 žena) lečenih Ele.PCI (od engl. Elective Percutaneous Coronary Intervention). Fizički trening se sastojao od dve trening sesije. Prve jutarnje sesije trajanja do 60 minuta sa aerobnim intervalnim treningom (3 minuta treninga i 3 minuta odmora) na biciklergometru. Kao i hoda preko Nyllinovog stepenika. Sesija je sadržala: vežbe zagrevanja 10 minuta, trening fazu trajanja do 45 minuta i potom fazu 5-to minutnog hlađenja. Druga, popodnevna sesija, koncipirana je od hoda po ravnom brzinom 3 do 5 km na čas (kontinuirani trening). Trajanje ove sesije je bilo individualno i svakodnevno je povećavano. Svim pacijentima I i II grupe posle tronedeljnog hospitalnog programa CR savetovan je program aerobnog fizičkog treninga koji se sastojao od šetnji brzinom 5 km/h, u trajanju od 60 min, 3-5 puta nedeljno, ciljanog intenziteta od 70% do 85% maksimalne srčane frekvence postignute na CPET-u nakon tronedeljnog programa hospitalne CR, koji su oni, uz vođenje dnevnika, sprovodili u trajanju od šest meseci kod kuće...Cardiovascular diseases (CVD) are the leading cause of death in the world and in our country. From all CVD, the most common is coronary heart disease which is associated with the highest morbidity and mortality by 25%. Cardiac rehabilitation (CR) is a set of activities and interventions needed to achieve the best possible physical, mental and social condition of patients with CVD. Aim: To examine the impact and effect of the three-week CR program to improve functional capacity estimated with CPET (Cardio Pulmonary Exercise Testing) and assess the sustainability of the effects of a period of six months from the end of the CR program in patients after percutaneous and surgical revascularization of myocardium. Methods: This study included 120 patients (111 males, mean age 54.90 ± 8.80 and 9 female, mean age 55.70 ± 5.20) who were divided into three groups. Group I consisted of 40 patients (38 men and 2 women) treated with CABG (Coronary Artery Bypass Grafting). Group II consisted of 40 patients (39 men and 1 women), treated with PCI (Percutaneous Coronary Intervention). Group III consisted of 40 patients (34 men and 6 women) treated with Ele.PCI (Elective Percutaneous Coronary Intervention). Physical training consisted of two training sessions. First morning sessions lasting up to 60 minutes with aerobic training interval (the training 3 minutes and 3 minutes of rest) on the ergo cycle. As an and walk through the Nyllin stairs. A session is contained of the: warm-up exercises for 10 min, a training phase of 45 minutes duration, and then 5 minute cooling phase. The second afternoon session, conceived by walking on a flat rate of 3 to 5 km per hour (continuous training). The duration of this session is an individual, and every day is increased. For all patients from first and the second group after a three-week hospital CR program, aerobic exercise training program is advised, consisting of a walking speed of 5 km/h, for 60 min, 3-5 times a week, a target intensity of 70% to 85% from maximum heart frequency achieved on CPET, which they, along with keeping a journal, conducted for a period of six months at home. All patients performed symptom-limited CPET on a bicycle ergometer with a ramp protocol of 10 W/minute..

ПРАКТИКУМ ЗА ГЕНЕТИКА ВО СПОРТ: Учебник за практична настава по генетика во спорт

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Artykuł oryginalny Występowanie polimorfizmu genu SERPINE1 u osób z miażdżycą zarostową tętnic kończyn dolnych lub zakrzepicą żył głębokich w populacji macedońskiej

Background: Raised SERPINE1 plasma levels are related to a 1-bp guanine deletion/insertion (4G5G) polymorphism in the promoter of the SERPINE1 (plasminogen activator inhibitor 1 &#8211; PAI1) gene. Evidence suggested that the plasma levels of SERPINE1 modulate the risk of coronary artery disease; furthermore, that the 4G5G polymorphism affects the expression of the SERPINE1 gene. Aim: To analyse association of SERPINE1 polymorphism with occlusive artery disease (OAD) and deep venous thrombosis (DVT) in Macedonians in order to investigate its role as a part of candidate genes in different vascular diseases in Macedonians. Methods: Investigated groups consisted of 82 healthy patients, 75 with OAD, and 66 with DVT. Blood samples were collected after written informed consent was obtained, and DNA was isolated from peripheral blood leukocytes. Identification of SERPINE1 polymorphism was done with CVD StripAssay (ViennaLab, Labordiagnostica GmbH, Austria). The population genetics analysis package, PyPop, was used for analysis of the SERPINE1 data. Pearson&#8217;s P-values, crude odds ratio and Wald&#8217;s 95% CI were calculated with Bonferroni corrected p value. Results: The frequency of 4G allele for SERPINE1 was 0.538 for DVT, 0.555 for healthy participants, and 0.607 for OAD. The frequency of 5G allele for SERPINE1 was the smallest in patients with OAD (0.393) and was higher in healthy participants (0.445), and patients with DVT (0.462). Test of neutrality (Fnd) showed negative value, but was significantly different from 0 for SERPINE1 in healthy participants (p of F = 0.041) and in patients with DVT (p of F = 0.030). SERPINE1 genotypes in healthy participants and patients with OAD were not in Hardy Weinberg proportions (p = 0.019 and 0.001, respectively). No association between SERPINE1 polymorphisms and OAD or DVT was found. Conclusion: There is no significant relationship between SERPINE1 polymorphisms and occlusive artery disease or deep venous thrombosis in Macedonian population.Wstęp: Zwiększone stężenie SERPINE1 jest związane z polimorfizmem delecji/wstawienia 1-bp guaniny (4G5G) do promotora genu SERPINE1 (ang. plasminogen activator inhibitor 1, PAI1). Wykazano, że stężenie osoczowe SERPINE1 ma wpływ na ryzyko wystąpienia choroby wieńcowej. Ponadto wiadomo, że polimorfizm 4G5G wpływa na ekspresję genu SERPINE1. Cel: Ocena związku pomiędzy występowaniem polimorfizmu genu SERPINE1 a miażdżycą zarostową tętnic kończyn dolnych (OAD) lub zakrzepicą żył głębokich (DVT) u mieszkańców Macedonii. Metody: Badaniami objęto grupę 82 zdrowych osób, 75 chorych z OAD oraz 66 chorych z DVT. Po uzyskaniu zgody pobierano krew i izolowano DNA z leukocytów krwi obwodowej. Polimorfizm genu SERPINE1 badano za pomocą CVD StripAssay (ViennaLab, Labordiagnostica GmbH, Austria). Do analizy statystycznej polimorfizmu SERPINE1 użyto populacyjnego programu PyPop. Wyniki: Częstość występowania allela 4G dla SERPINE1 wynosiła 0,538 w grupie DVT, 0,555 w grupie osób zdrowych oraz 0,607 w grupie OAD. Częstość występowania allela 5G dla SERPINE1 była najniższa w grupie OAD (0,393), pośrednia u osób zdrowych (0,445), a najwyższa w grupie DVT (0,462). Test neutralności (Fnd) miał wartości ujemne, ale był istotnie różny od 0 dla genu SERPINE1 u osób zdrowych (p dla testu F = 0,041) i chorych z DVT (p dla testu F = 0,030). U osób zdrowych i chorych z OAD genotypy SERPINE1 nie układały się w proporcji Hardy&#8217;ego-Weinberga (odpowiednio, p = 0,019 i 0,001). Wnioski: Nie znaleziono związku pomiędzy polimorfizmem genu SERPINE1 a OAD lub DVT u mieszkańców Macedonii