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Ilze Radoviča, Rūdolfs Bērziņs, Gustavs Latkovskis, Dāvids Fridmanis, Liene Ņikitina-Zaķe, Kārlis Ventiņš, Guna Ozola, Andrejs Ērglis and Jānis Kloviņš

Abstract

Familial hypercholesterolemia (FH) is one of the most common single gene disorders, which is mostly inherited as an autosomal dominant trait. The physical signs of FH are elevated low density lipoprotein cholesterol (LDL-C), elevated total cholesterol (TC) levels and tendon xantomas. Identification and early treatment of affected individuals is desirable and in lack of physical symptoms DNA-based diagnosis provides confirmation of diagnosis and enables early patient management. The majority of FH cases are caused by mutations in four genes (APOB, LADLR, PCSK9, and LDLRAP1). There are commercial kits available for testing of the 20 most common FH causing mutations, but the spectrum of disease-causing mutations is quite diverse in various populations and these tests cover only a minority of disease-causing genetic variants. There is therefore a need to determine the full spectrum of mutations in LDLR, APOB, PCSK9, and LDLRAP1 genes in each population. Here we report mutations found in 16 patients with suspected FH in a sample from the Genome Database of the Latvian population enrolled at the Latvian Centre of Cardiology. We used the next generation sequencing approach to determine the full spectrum of mutations in coding regions of LDLR, APOB, PCSK9, and LDLRAP1. In total we found 22 missense mutations, from which only rs5742904 (Arg3527Gln) in APOB gene had been previously described as a FH-causing mutation confirming FH in one patient. Possible FH-causing mutations however, were identified in the majority of patients. The conclusion is that the most commonly employed commercial mutation panel is not sufficient for diagnosis of FH patients and NGS can help to identify FH-causing mutations in the Latvian population.

Open access

Māra Bleidere, Sanita Zute and Ida Jākobsone

Abstract

Incorporation of whole grain, such as hulless barley, as a part of a balanced diet can help reduce the risk of coronary heart diseases, diabetes and specific cancers, and provide other health benefits as well. The objectives of this study were to determine the physical and chemical characteristics of grains of hulless barley genotypes from the Latvian spring barley programme. Field experiments were carried out in 2010-2011 at the State Stende Cereal Breeding Institute. Grain samples of 29 hulless spring barley breeding lines were analysed for grain physical traits (1000 kernel weight, test weight), macronutrients (crude protein, starch, β -glucans), and micronutrients (total phenolic content, DPPH antiradical scavenging activity and α-tocopherol content). The variation of physical traits and macronutrients was mainly determined by genotype (ω2 = 32-62%) and year (η2 = 8-42%) and to a lesser extent by interaction of factors. The difference between hulless genotypes, as indicated the coefficient of variation, was rather high for all micronutrients (V% = 13.4-25.6). Significant (P < 0.05) positive correlation was detected between radical scavenging activity and total phenolic content (r = 0.519) and starch content (r = 0.530). The best hulless breeding lines ‘1185’ and ‘IC 360’ (variety ‘Kornelija’ submitted for DUS and VCU tests) were selected for future usage in clinical investigations.

Open access

Elīna Pūcīte, Marius Šlisers, Evija Miglāne, Dainis Krieviņš, Andrejs Millers and Inese Blimhena

Abstract

Information about changes of health-related quality of life (HRQoL) after revascularisation as well how revascularisation procedure influences daily activities, cognitive functioning and general health is controversial. The objectives of our study were to evaluate and describe the HRQoL among patients with severe carotid artery disease; to evaluate the difference of HRQoL between symptomatic and asymptomatic carotid artery disease; and to explore the possible associations between some demographic and clinical characteristics of patients with carotid artery disease and HRQoL. The cross-sectional study included 33 patients who were referred for carotid artery endarterectomy. Data assessment was done one to three days before surgery. The HRQoL was assessed using the Medical Outcome Survey Form 36 (SF-36v2). Patients with symptomatic carotid artery disease had the lowest mean SF-36v2 scores for physical functioning, role-physical, general health and mental health. There was moderate correlation (rs = 0.441) between mean SF- 36v2 scores of mental health and Montreal Cognitive Assessment Scale (MoCA) scores. There is also indirect indication for probable correlation between MoCA test scores and mean SF-36v2 scores of social functioning, which might become statistically significant if more patients would be included. Patients with severe carotid artery disease in our study had lower mean SF-36v2 scores for role-physical, for bodily pain and for perception about their health status (general health). HRQoL in patients with severe carotid artery, stenosis was poorer in patients with symptomatic carotid artery disease and was not affected by gender and other clinical characteristics.

Open access

Iveta Mintāle, Inga Narbute, Sanda Jēgere, Milāna Zabunova, Dace Lūriņa, Iļja Zakke, Vilnis Dzērve and Andrejs Ērglis

, 111 , 3481-3488. Mintāle, I., Ērglis, A. (2008). Fiziskās slodzes testi. Metodiskie norādījumi [Recommendations of the Latvian Society of Cardiology on physical exercise tests]. Latvijas Kardiologu biedrība. Rīga, 48 lpp Pepine, CJ., Cohn, P.F., Deedwania, P.C., Gibson, R.S., Handberg, E., Hill, J.A., Miller, E., Marks, R.G., Thadani, U. (1994). Effects of treatment on outcome in mildly symptomatic patients with ischemia during daily life: The atenolol silent ischemia study (ASIST). Circulation , 90 , 762

Open access

Marija Avota, Anita Raciborska and Andrejs Avots

Foot problems of female medical personnel: Subjective complaints and results of the podometric test

The research was carried out in a multi-profile clinic where female medical workers included nurses, doctors and nurse assistants. The number of respondents included in the data analysis of this research was 102. A standardised questionnaire was used to obtain data on age group, position, body mass index, physical activities, ergonomic factors at work, performed objective foot examination methods, awareness of the ways of feet deformation correction. A computerised foot diagnostic system Pad Professional was used to objectively assess the feet condition. The podometric examination was carried out on 78 respondents. The data indicated a widespread foot problem spread among medical workers. Of 102 respondents only 10 (4.2%) had no complaints, and of 78 respondents who underwent the podometric test, none were diagnosed as having a totally healthy foot. The podometric examination showed that 65 (83.3%), which was the vast majority of respondents, had transverse arch flattening. Explicit transverse arch flattening was diagnosed in 8 (10.3%) and longitudinal arch flattening in 5 (6.4%) respondents.

Open access

Noël Barengo, Dana Misiņa, Lauma Zariņa, Jānis Kloviņš, Dita Ozola, Andra Dērveniece, Linda Tarāsova and Valdis Pīrāgs

Glucose Metabolism Disorders and Risk Factors of Type 2 Diabetes in 45-74-Years-old Population in Rīga, Latvia

The aims of this study were to investigate the current prevalence of abnormal glucose tolerance (AGT), compare the risk factor profile between persons with and without AGT among 45-74 years-old Latvian men and women, and to validate the Finnish diabetes risk score (FINDRISC) questionnaire in detecting AGT in the middle-aged Latvian population. A cross-sectional survey among the 45-74-years old population randomly selected from the registers of general practitioners in Rīga, Latvia was carried out between April 2008 and March 2009. The survey consisted of a questionnaire, measurements such as height, weight, waist circumference, and blood pressure as well as blood oral glucose tolerance test (OGTT), cholesterol and its fractions. Prevalence of obesity, central obesity and physical inactivity were high in the Latvian population. Women with AGT had a worse risk factor profile for T2D and cardiovascular diseases compared to those with normal glucose tolerance. No differences were found in the risk factor profile between men with and without AGT. A high proportion of men and women with more than 11 FINDRISC points had undetected AGT. The FINDRISC questionnaire can be used in clinical practice to detect persons with AGT in the Latvian population.

Open access

Ženija Roja, Valdis Kaļķis, Henrijs Kaļķis and Ilmārs Pencis

without exercise testing. Med. Sci. Sports Exercise , 22 , 863-870. Landis, J. R., Koch, G. G. (1977). The Measurement of Observer Agreement for Categorical Data. Biometrics , 33 , 159-174. Louhevaara, V., Suurnäkki, T. (1992). OWAS: Training Publication II. Finish Institute for Occupational Health, Helsinki. 102 pp. Mantoe, H. I., Kemper, W. M., Saris, M., Washburn, R. A. (1996). Measuring Physical Activity and Energy Expenditure . Human Kinetics Publishers, Champaign, Illinois, USA

Open access

Māra Bleidere, Regīna Timbare, Natalija Bobere, Madara Paklone, Ida Jākobsone and Sanita Zute

-129. Peterson, D. M., Emmons, C. L., Hibbs, A. H. (2001). Phenolic Antioxidants and Antioxidant Activity in Pearling Fractions of Oat Groats. J. Cereal Sci., 33 (1), 97-103. Peterson, D. M. (2004). Oat-a multifunctional grain. In: Proceedings of 7th International Oat Conference, Agrifood Research Reports 51, MTT Agrifood Research (pp. 21-26). Peltonen-Sainio, P., Topi-Hulmi, M. (eds.). Jokioinen, Finland. Pomeranz, Y., Davis, G. D., Stoops, J. L., Lai, F. S. (1979). Test weight and groat-to-hull ratio in oats. Cereal Foods World, 24, 600

Open access

Līga Mekša, Guntis Karelis, Lana Vainšteine, Sandra Svilpe, Gundega Gulbe, Anželika Gudreniece and Jolanta Kalniņa

References Benedict, R. H. B. (1997). Brief Visuospatial Memory Test - Revised: Professional Manual. Psychological Assessment Resources, Odessa, FL. 125 pp. Benedict, R. H., Cookfair, D., Gavett, R., Gunther, M., Munschauer, F., Garg, N., Weinstock-Guttman, B. (2006). Validity of the minimal assessment of cognitive function in multiple sclerosis (MACFIMS). J. Int. Neuropsychol. Soc., 12 (4), 549-558. Benedict, R. H., Fischer, J. S., Archibald, C. J., Arnett, P. A., Beatty, W. W., Bobholz, J., Chelune, G. J

Open access

Rudīte Lagzdiņa, Leons Blumfelds, Maija Rumaka and Līga Aberberga-Augškalne

Abstract

Eating habits with uniform food preferences and increased energy intake can contribute to increased gain of body fat. An adequate diet, body self-evaluation, and recognition of unhealthy nutrition patterns should promote appropriate corrective actions. The aim of the present study was to determine whether energy intake, food diversity and corrective modification of body mass differed among student groups with low, normal and high body fat percentage. The study involved 737 (158 male and 579 female) students of the Rîga Stradiòð University (age 18-49 years). Dietary behaviour was determined using self-administered questionnaire. Body fat percentage was determined with a Tanita MC-180 bioimpedance analyser. Fluid and food intake, as well as physical activity before the test was restricted. The results showed that 15% of students in the low, 38% in the normal and 62% in the high body fat percentage groups considered that they eat too much. In the low, normal and high body fat percentage groups of students, 27%, 37% and 42%, respectively, agreed that they do restrict food intake. There were no significant differences in normalised energy intake and food diversity indexes between these student groups. Students in the high body fat percentage group more frequently admitted eating to much, and their corrective behaviour was associated more with reduced amounts of eaten food rather than minimisation of energy intake and increased food diversity. In all fat percentage groups, female students more frequently admitted that they eat too much and more often tended to restrict food intake than male students.