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2.
Technol Health Care ; 30(1): 231-242, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34806636

RESUMO

BACKGROUND: Monitoring physical activity with consumers wearables is one of the possibilities to control a patient's self-care and adherence to recommendations. However, clinically approved methods, software, and data analysis technologies to collect data and make it suitable for practical use for patient care are still lacking. OBJECTIVE: This study aimed to analyze the potential of patient physical activity monitoring using Fitbit physical activity trackers and find solutions for possible implementation in the health care routine. METHODS: Thirty patients with impaired fasting glycemia were randomly selected and participated for 6 months. Physical activity variability was evaluated and parameters were calculated using data from Fitbit Inspire devices. RESULTS: Changes in parameters were found and correlation between clinical data (HbA1c, lipids) and physical activity variability were assessed. Better correlation with variability than with body composition changes shows the potential to include nonlinear variability parameters analysing physical activity using mobile devices. Less expressed variability shows better relationship with control of prediabetic and lipid parameters. CONCLUSIONS: Evaluation of physical activity variability is essential for patient health, and these methods used to calculate it is an effective way to analyze big data from wearable devices in future trials.


Assuntos
Estado Pré-Diabético , Dispositivos Eletrônicos Vestíveis , Exercício Físico , Monitores de Aptidão Física , Humanos , Metaboloma
3.
Genes (Basel) ; 12(10)2021 09 25.
Artigo em Inglês | MEDLINE | ID: mdl-34680894

RESUMO

Multiple genetic variants are known to influence athletic performance. These include polymorphisms of the muscle-specific creatine kinase (CKM) gene, which have been associated with endurance and/or power phenotypes. However, independent replication is required to support those findings. The aim of the present study was to determine whether the CKM (rs8111989, c.*800A>G) polymorphism is associated with power athlete status in professional Russian and Lithuanian competitors. Genomic DNA was collected from 693 national and international standard athletes from Russia (n = 458) and Lithuania (n = 235), and 500 healthy non-athlete subjects from Russia (n = 291) and Lithuania (n = 209). Genotyping for the CKM rs8111989 (A/G) polymorphism was performed using PCR or micro-array analysis. Genotype and allele frequencies were compared between all athletes and non-athletes, and between non-athletes and athletes, segregated according to population and sporting discipline (from anaerobic-type events). No statistically significant differences in genotype or allele frequencies were observed between non-athletes and power athletes (strength-, sprint- and speed/strength-oriented) athletes. The present study reports the non-association of the CKM rs8111989 with elite status in athletes from sports in which anaerobic energy pathways determine success.


Assuntos
Desempenho Atlético , Creatina Quinase Forma MM/genética , Polimorfismo de Nucleotídeo Único , Esportes , Adulto , Feminino , Frequência do Gene , Humanos , Masculino , Adulto Jovem
4.
Genes (Basel) ; 12(7)2021 07 13.
Artigo em Inglês | MEDLINE | ID: mdl-34356082

RESUMO

Total genotype score (TGS) reflects additive effect of genotypes on predicting a complex trait such as athletic performance. Scores assigned to genotypes in the TGS should represent an extent of the genotype's predisposition to the trait. Then, combination of genotypes highly ranks those individuals, who have a trait expressed. Usually, the genotypes are scored by the evidence of a genotype-phenotype relationship published in scientific studies. The scores can be revised computationally using genotype data of athletes, if available. From the available genotype data of 180 Lithuanian elite athletes we created an endurance-mixed-power performance TGS profile based on known ACE rs1799752, ACTN3 rs1815739, and AMPD1 rs17602729, and an emerging MB rs7293 gene markers. We analysed an ability of this TGS profile to stratify athletes according to the sport category that they practice. Logistic regression classifiers were trained to compute the genotype scores that represented the endurance versus power traits in the group of analysed athletes more accurately. We observed differences in TGS distributions in female and male group of athletes. The genotypes with possibly different effects on the athletic performance traits in females and males were described. Our data-driven analysis and TGS modelling tools are freely available to practitioners.


Assuntos
Atletas/estatística & dados numéricos , Desempenho Atlético/fisiologia , Marcadores Genéticos , Herança Multifatorial , Resistência Física , Polimorfismo Genético , Adulto , Estudos de Casos e Controles , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Fenótipo
5.
Acta Med Litu ; 28(1): 48-58, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34393628

RESUMO

SUMMARY BACKGROUND: Betacoronavirus SARS-CoV-2 has spread in early 2020 worldwide just in several months. The official statistics are consistently collected, but this is mainly based on symptomatic reports. This study was aimed to estimate the seroprevalence of SARS-CoV-2 infection in Lithuanian population. MATERIALS AND METHODS: Study was conducted during August-September 2020 in 6 municipalities of Lithuania. The sample comprised 3087 adult participants from the general population (mean age 53.7 years, 64% female). SARS-CoV-2 antibodies were assessed using AMP IgM/IgG Rapid Test, other data were based on self-report. Seroprevalence was assessed as a crude estimate and as adjusted by sensitivity-specificity of the test. RESULTS: The crude seroprevalence in the total sample was 1.9%, the adjusted - 1.4%, ranging from 0.8% to 2.4% across municipalities. Among seroprevalent cases, 67.2% had IgG, 29.3% had IgM, and 3.5% had both IgG and IgM. An increased risk for seropositive test was observed among people who reported having had close contacts with SARS-CoV-2 positives (OR=5.49, p<0.001). At the borderline significance were female gender (OR=1.75, p=0.082) and non-smoking status (OR=2.95, p=0.072). Among the seropositive participants, 69.0% reported having had no COVID-19 symptoms since 1 March 2020, while 31.0% reported having had at least one of the symptoms. CONCLUSIONS: The SARS-CoV-2 seroprevalence in Lithuanian sample in August-September 2020 was 1.4%, ranging from 0.8% to 2.4% across municipalities. Given the overall official data, by the end of study (11 September 2020) the total COVID-19 rate in Lithuania was 117.5 per 100,000 population or 0.12%. This suggests more than 10 times higher prevalence of virus across the population than the official estimates.

6.
Genes (Basel) ; 12(5)2021 05 17.
Artigo em Inglês | MEDLINE | ID: mdl-34067816

RESUMO

The MSTN gene is a negative regulator of muscle growth that is attracting attention as a candidate gene for physical performance traits. We hypothesised that variants of MSTN might be associated with the status of elite athlete. We therefore sought to study the potential role of MSTN in the physical performance of athletes by analysing the whole coding sequence of the MSTN gene in a cohort of Lithuanian elite athletes (n = 103) and non-athletes (n = 127). Consequently, two genetic variants were identified: the deletion of one of three adenines in the first intron (c.373+90delA, rs11333758) and a non-synonymous variant in the second exon (c.458A>G, p.Lys(K)153Arg(R), rs1805086). Among all samples, the MSTN rs1805086 Lys(K) allele was the most common form in both groups. Homozygous genotype for the less common Arg(R) allele was identified in only one elite canoe rower, and we could find no direct association between rs1805086 and successful results in elite athletes. Surprisingly, the intronic variant (rs11333758) was abundant among all samples. The main finding was that endurance-oriented athletes had 2.1 greater odds of being MSTN deletion genotype than non-athletes (13.6% vs. 0.8%). The present study confirms the association of the polymorphism rs11333758 with endurance performance status in Lithuanian elite athletes.


Assuntos
Atletas , Miostatina/genética , Resistência Física/genética , Polimorfismo de Nucleotídeo Único , Adulto , Feminino , Humanos , Masculino , Fenótipo
7.
J Med Biochem ; 40(2): 173-180, 2021 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-33776567

RESUMO

BACKGROUND: Stress system consists of the hypothalamicpituitary-adrenal (HPA) axis and the locus caeruleus/norepinephrine-autonomic nervous system (ANS). Traditionally, HPA axis activity is evaluated by measuring its end-product cortisol, while the activity of ANS is assessed using heart rate variability (HRV) indices. Alterations in cortisol levels and HRV measures during laboratory-based stress tasks were extensively studied in previous research. However, scarce data exist on the associations of HRV measures with the levels of other adrenal steroid hormones under baseline conditions. Thus, we aimed to evaluate the activity of the HPA axis by measuring salivary cortisol, cortisone, dehydroepiandrosterone (DHEA) levels, and their ratios and to examine its association with HRV measures in a sample of healthy young and middle-aged adults. METHODS: For each participant (n=40), three data collection sessions taking place at the same time of the day were scheduled within five working days. Participants completed a self-reported questionnaire on sociodemographic and lifestyle characteristics, filled out t h e Perceived Stress Scale and State-Trait Anxiety Inventory. Also, saliva samples were collected, and physiological measures, including resting HR and HRV, were recorded during three data collection sessions. RESULTS: Statistically significant associations between diminished parasympathetic vagal tone evaluated by time domain HRV measures and higher salivary cortisol, lower DHEA levels, as well as decreased DHEA to cortisol ratio, were found. Also, physiological stress indicators (i.e., HRV) showed greater intraindividual stability compared with biochemical biomarkers (i.e., salivary steroid hormones) within five days. CONCLUSIONS: Our findings suggest that both cortisol and DHEA mediate the link between two stress-sensitive homeostatic systems.

8.
Med Sci Monit ; 25: 3573-3582, 2019 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-31086129

RESUMO

BACKGROUND The high prevalence of cardiovascular diseases cannot be explained completely by conventional risk factors such as older age, smoking, diabetes mellitus, hypertension, obesity, and dyslipidemia. Results of recent studies indicate that chronic stress may be an independent risk factor for cardiovascular morbidity and mortality. Thus, the aim of our study was to investigate the associations between the hair cortisol concentration (HCC), which is considered as a potential biomarker of long-term psychosocial stress, and traditional cardiovascular risk factors, including smoking, dyslipidemia, hypertension, and obesity. MATERIAL AND METHODS Fasting blood samples and anthropometric and lifestyle data were collected from 163 apparently healthy men. HCC was determined using high-performance liquid chromatography. Allostatic load (AL) index, defined as an integrated score of multiple interacting systems involved in the adaptation to adverse physical or psychosocial situations, was also calculated. RESULTS We found that many prevalent cardiovascular risk factors, including hypertension, smoking, higher than recommended waist circumference (WC), and low-density lipoprotein cholesterol (LDL-C) median values, are associated with higher HCC. Hair cortisol level was also positively associated with the manifestation of individual cardiovascular risk factors such as higher-than-recommended total cholesterol, LDL-C, non-high-density lipoprotein cholesterol, body mass index, and WC median values. Moreover, a significant positive relationship between HCC and AL index was observed. CONCLUSIONS The results of this study suggest that increased prevalence of traditional cardiovascular risk factors is associated with higher HCC. Also, both HCC and AL index might be appropriate markers for the evaluation of chronic stress level.


Assuntos
Doenças Cardiovasculares/etiologia , Hidrocortisona/análise , Estresse Psicológico/metabolismo , Adulto , Alostase/fisiologia , Antropometria , Biomarcadores , Índice de Massa Corporal , LDL-Colesterol/sangue , Dislipidemias , Cabelo/química , Humanos , Hipertensão/complicações , Masculino , Pessoa de Meia-Idade , Obesidade/complicações , Prevalência , Fatores de Risco , Fumar , Circunferência da Cintura
9.
Front Genet ; 9: 315, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30154829

RESUMO

In the last decade, one of the biggest challenges in genomics research has been to distinguish definitive pathogenic variants from all likely pathogenic variants identified by next-generation sequencing. This task is particularly complex because of our lack of knowledge regarding overall genome variation and pathogenicity of the variants. Therefore, obtaining sufficient information about genome variants in the general population is necessary as such data could be used for the interpretation of de novo mutations (DNMs) in the context of patient's phenotype in cases of sporadic genetic disease. In this study, data from whole-exome sequencing of the general population in Lithuania were directly examined. In total, 84 (VarScan) and 95 (VarSeqTM) DNMs were identified and validated using different algorithms. Thirty-nine of these mutations were considered likely to be pathogenic based on gene function, evolutionary conservation, and mutation impact. The mutation rate estimated per position pair per generation was 2.74 × 10-8 [95% CI: 2.24 × 10-8-3.35 × 10-8] (VarScan) and 2.4 × 10-8 [95% CI: 1.96 × 10-8-2.99 × 10-8] (VarSeqTM), with 1.77 × 10-8 [95% CI: 6.03 × 10-9-5.2 × 10-8] de novo indels per position per generation. The rate of germline DNMs in the Lithuanian population and the effects of the genomic and epigenetic context on DNM formation were calculated for the first time in this study, providing a basis for further analysis of DNMs in individuals with genetic diseases. Considering these findings, additional studies in patient groups with genetic diseases with unclear etiology may facilitate our ability to distinguish certain pathogenic or adaptive DNMs from tolerated background DNMs and to reliably identify disease-causing DNMs by their properties through direct observation.

10.
Int J Colorectal Dis ; 33(6): 779-785, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29532205

RESUMO

PURPOSE: To compare perioperative colorectal cancer care and survival in patient cohorts operated in 2005 and in 2010 in Lithuania. METHODS: Comparative observational cohort study was performed. The study was conducted in the three Lithuanian cancer hospitals. Patients, who underwent curative surgery for colorectal cancer in 2005 and 2010, were included. Demographic characteristics, distribution of the tumors, preoperative diagnostics and staging, surgical treatment, the quality of pathological examination, morbidity, and mortality were analyzed. One- and 5-year overall survival data were compared between the groups. RESULTS: Colorectal cancer diagnostics and treatment improved from 2005 to 2010 significantly. The disease was identified as stage III-IV for 45 vs. 48% of the patients; however, computed tomography staging scan was performed only for 5.9 vs. 17.8% in 2005 and 2010, respectively. Laparoscopic operations were performed 1.5 vs. 10.5% and abdominoperineal resections-42.7 vs. 31.7% in 2005 and 2010, respectively. The number of harvested lymph nodes was mentioned in 55.8 vs. 97.7% of the cases, whereas more than 12 lymph nodes were examined in 18 vs. 66.6% of cases after histological examination. The overall 5-year survival was 52.1 vs. 63.1% (p < 0.0001), while the 5-year survival of the patients with stage IV of disease was 4.2 vs. 17.8% in 2005 and 2010, respectively. CONCLUSION: Preoperative investigation, surgical treatment, pathological examination, and postoperative course are associated with improved overall survival in colorectal cancer patients, undergoing curative surgery in the resource-limited settings.


Assuntos
Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/cirurgia , Estimativa de Kaplan-Meier , Assistência Perioperatória , Idoso , Neoplasias Colorretais/diagnóstico , Cirurgia Colorretal , Feminino , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Morbidade , Fatores de Tempo , Resultado do Tratamento
11.
Dent Traumatol ; 34(2): 100-106, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29450968

RESUMO

BACKGROUND/AIMS: In Lithuania, dental trauma cases are often treated by general dentists, but it is unknown whether their age, self-evaluation of trauma knowledge and practice location can predict their actual knowledge and management of trauma cases. The aim of this study was to evaluate whether these factors can be used to predict the actual knowledge and management of trauma cases. METHODS: A 2-part questionnaire included 17 multiple-choice questions about practitioners' demographics, their self-evaluated knowledge and how frequently they treated traumatized permanent teeth as well as 13 clinical scenarios reflecting a variety of clinical trauma cases and their complications. A total of 980 randomly selected general dentists, representing 5 Lithuanian counties, participated in the study. RESULTS: The response rate was 59.4% (n = 582). Overall, 82.3% of general dentists reported that they treated only a few dental trauma cases and 14.4% chose to refer their patients; 55.1% of dentists considered their dental traumatology knowledge to be sufficient but incomplete and 34.0% self-evaluated their knowledge as insufficient. The most knowledge (based on self-evaluation) was reported by the younger dentists (≤50 years; P = .004). The mean correct knowledge score was 7.6 ± 2.2 of the 13 clinical scenarios. Both bivariate and multivariate analyses showed that greater trauma-related knowledge was associated with a younger age. Better knowledge was observed amongst the dentists who self-evaluated their own knowledge as sufficient or as comprehensive. CONCLUSION: Lithuanian general dentists have insufficient dental traumatology knowledge. Better knowledge was observed amongst younger dentists (≤50 years).


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Padrões de Prática Odontológica/estatística & dados numéricos , Traumatismos Dentários/terapia , Dentição Permanente , Feminino , Humanos , Lituânia/epidemiologia , Masculino , Inquéritos e Questionários , Traumatismos Dentários/epidemiologia
12.
Medicina (Kaunas) ; 53(3): 166-172, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28669594

RESUMO

OBJECTIVE: The aim of this study was to compare the impact of treatment procedures on roots previously treated with resorcinol-formaldehyde resin and analyze the effectiveness of dye and magnification for the detection of dentin cracks. MATERIALS AND METHODS: Distal roots of 80 permanent first mandibular molars with a single canal were sectioned at 3mm and 9mm from the anatomical apex. Two groups were formed according to the method used for root canal penetration: group 1 (K-file and Pro Taper instruments) and group 2 (Ultrasound with Pro Ultra and Pro Taper files). Before and after the completion of procedures, photographs of the roots were taken for examination for cracks or/and infraction lines with two levels of magnification and with or without a dye. RESULTS: In groups 1 and 2, either with dye or without it, there were statistically significant differences (P<0.001) with more fractures observed in the coronal than in the apical part of specimens. Statistically significant proportional differences regarding the location of fractures were observed at both magnifications. When the dye was used, there were no statistically significant differences between the two magnifications in the detection of cracks. In the specimens where the dye was not used, differences between the groups were statistically significant at both magnifications with more complete and intra-dental fractures observed in group 2. CONCLUSIONS: Retreatment methods had a damaging effect on the root dentin of teeth previously treated with resorcinol-formaldehyde resin. At magnification ×16, the efficacy of using the dye for the detection of cracks was higher than detection without the dye.


Assuntos
Fraturas dos Dentes , Humanos , Mandíbula , Retratamento , Fraturas dos Dentes/terapia
13.
J Comput Biol ; 24(4): 357-367, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27632638

RESUMO

Against diminishing costs, next-generation sequencing (NGS) still remains expensive for studies with a large number of individuals. As cost saving, sequencing genome of pools containing multiple samples might be used. Currently, there are many software available for the detection of single-nucleotide polymorphisms (SNPs). Sensitivity and specificity depend on the model used and data analyzed, indicating that all software have space for improvement. We use beta-binomial model to detect rare mutations in untagged pooled NGS experiments. We propose a multireference framework for pooled data with ability being specific up to two patients affected by neuromuscular disorders (NMD). We assessed the results comparing with The Genome Analysis Toolkit (GATK), CRISP, SNVer, and FreeBayes. Our results show that the multireference approach applying beta-binomial model is accurate in predicting rare mutations at 0.01 fraction. Finally, we explored the concordance of mutations between the model and software, checking their involvement in any NMD-related gene. We detected seven novel SNPs, for which the functional analysis produced enriched terms related to locomotion and musculature.


Assuntos
Sequenciamento de Nucleotídeos em Larga Escala/métodos , Modelos Estatísticos , Mutação , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA/métodos , Algoritmos , Humanos , Software
14.
BMC Genet ; 17: 45, 2016 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-26896187

RESUMO

BACKGROUND: Congenital hearing loss (CHL) is diagnosed in 1 - 2 newborns in 1000, genetic factors contribute to two thirds of CHL cases in industrialised countries. Mutations of the GJB2 gene located in the DFNB1 locus (13q11-12) are a major cause of CHL worldwide. The aim of this cross-sectional study was to assess the contribution of the DFNB1 locus containing the GJB2 and GJB6 genes in the development of early onset hearing loss in the affected group of participants, to determine the population-specific mutational profile and DFNB1-related HL burden in Lithuanian population. METHODS: Clinical data were obtained from a collection of 158 affected participants (146 unrelated probands) with early onset non-syndromic HL. GJB2 and GJB6 gene sequencing and GJB6 gene deletion testing were performed. The data of GJB2 and GJB6 gene sequencing in 98 participants in group of self-reported healthy Lithuanian inhabitants were analysed. Statistic summary, homogeneity tests, and logistic regression analysis were used for the assessment of genotype-phenotype correlation. RESULTS: Our findings show 57.5% of affected participants with two pathogenic GJB2 gene mutations identified. The most prevalent GJB2 mutations were c.35delG, p. (Gly12Valfs*2) (rs80338939) and c.313_326del14, p. (Lys105Glyfs*5) (rs111033253) with allele frequencies 64.7% and 28.3% respectively. GJB6 gene mutations were not identified in the affected group of participants. The statistical analysis revealed significant differences between GJB2(-) and GJB2(+) groups in disease severity (p = 0.001), and family history (p = 0.01). The probability of identification of GJB2 mutations in patients with various HL characteristics was estimated. The carrier rate of GJB2 gene mutations - 7.1% (~1 in 14) was identified in the group of healthy participants and a high frequency of GJB2-related hearing loss was estimated in our population. DISCUSSION: The results show a very high proportion of GJB2-positive individuals in the research group affected with sensorineural HL. The allele frequency of c.35delG mutation (64.7 %) is consistent with many previously published studies in groups of affected individuals of Caucasian populations. The high frequency of the c.313_326del14 (28.3 % of pathogenic alleles) mutation in affected group of participants was an unexpected finding in our study suggesting not only a high frequency of carriers of this mutation in our population but also its possible origin in Lithuanian ancestors. The high frequency of carriers of the c.313_326del14 mutation in the entire Lithuanian population is supported by it being identified twice in the ethnic Lithuanian group of healthy participants (a frequency 2.0 % of carriers in the study group). CONCLUSION: Analysis of the allele frequency of GJB2 gene mutations revealed a high proportion of c. 313_326del14 (rs111033253) mutations in the GJB2-positive group suggesting its possible origin in Lithuanian forebears. The high frequency of carriers of GJB2 gene mutations in the group of healthy participants corresponds to the substantial frequency of GJB2-associated HL in Lithuania. The observations of the study indicate the significant contribution of GJB2 gene mutations to the pathogenesis of the disorder in the Lithuanian population and will contribute to introducing principles to predict the characteristics of the disease in patients.


Assuntos
Conexinas/genética , Perda Auditiva Neurossensorial/genética , População Branca/genética , Alelos , Pré-Escolar , Conexina 26 , Estudos Transversais , Feminino , Deleção de Genes , Frequência do Gene , Estudos de Associação Genética , Loci Gênicos , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Lituânia , Modelos Logísticos , Masculino , Mutação , Análise de Sequência de DNA
15.
Acta Med Litu ; 23(2): 63-72, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28356793

RESUMO

BACKGROUND: Lithuania is a Northern European country consisting of two main ethnolinguistic groups: Samogitians and Highlanders. The objective of the paper is to investigate differences in nutritional habits of 18-65-year-old Lithuanians living in different ethnolinguistic regions. MATERIALS AND METHODS: A representative, population-based, random sample of the 18-65-year-old ethnic Lithuanian population was interviewed from 17 December 2008 to 20 May 2013. Lithuanians living in their ethnolinguistic region for at least three generations were included (n = 1,133). We analysed responses to 12 questions about nutritional habits of respondents. For the univariate analysis, we applied the chi-squared test. For the clusterisation of the survey questions, we employed a multiple correspondence analysis (MCA). RESULTS: Comparing Samogitians' and Highlanders' responses according to their gender, education, and place of residence, we observed more often significant differences (p < 0.05) for the urban population, respondents without higher education, and women. The nutrition of Highlanders was more consistent with national and WHO nutritional recommendations. Significant differences were obtained in the consumption of fish (p = 1.9 · 10-12), milk (p = 1.8 · 10-4) and grain products (p = 0.01). MCA revealed that all questions fall into three groups with a different composition for Samogitians and Highlanders. We failed to demonstrate the impact of different nutritional habits on the body mass index. CONCLUSIONS: According to the univariate and multivariate analysis, the nutritional habits of Lithuanian ethnolinguistic regions are heterogeneous. Dependency on an ethnolinguistic region might be considered an important factor for the preparation of appropriate health and nutrition education and disease prevention programmes. The issue of excess weight remains equally important for both ethnolinguistic groups.

16.
BMC Genet ; 15: 58, 2014 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-24885427

RESUMO

BACKGROUND: The C34T genetic polymorphism (rs17602729) in the AMPD1 gene, encoding the skeletal muscle-specific isoform of adenosine monophosphate deaminase (AMPD1), is a common polymorphism among Caucasians that can impair exercise capacity. The aim of the present study was twofold: (1) to determine the C34T AMPD1 allele/genotype frequency distributions in Lithuanian athletes (n = 204, stratified into three groups: endurance, sprint/power and mixed) and compare them with the allele/genotype frequency distributions in randomly selected healthy Lithuanian non-athletes (n = 260) and (2) to compare common anthropometric measurements and physical performance phenotypes between the three groups of athletes depending on their AMPD1 genotype. RESULTS: The results of our study indicate that the frequency of the AMPD1 TT genotype was 2.4% in the control group, while it was absent in the athlete group. There were significantly more sprint/power-orientated athletes with the CC genotype (86.3%) compared with the endurance-orientated athletes (72.9%), mixed athletes (67.1%), and controls (74.2%). We determined that the AMPD1 C34T polymorphism is not associated with aerobic muscle performance phenotype (VO2max). For CC genotype the short-term explosive muscle power value (based on Vertical Jump test) of athletes from the sprint/power group was significantly higher than that of the endurance group athletes (P < 0.05). The AMPD1 CC genotype is associated with anaerobic performance (Vertical Jump). CONCLUSIONS: The AMPD1 C allele may help athletes to attain elite status in sprint/power-oriented sports, and the T allele is a factor unfavourable for athletics in sprint/power-oriented sports categories. Hence, the AMPD1 C allele can be regarded as a marker associated with the physical performance of sprint and power. Replications studies are required to confirm this association.


Assuntos
AMP Desaminase/genética , Atletas , Desempenho Atlético , Polimorfismo Genético , Adolescente , Adulto , Alelos , Antropometria , Feminino , Frequência do Gene , Genótipo , Humanos , Lituânia , Masculino , Força Muscular/genética , Resistência Física/genética , Adulto Jovem
17.
Eur J Sport Sci ; 14 Suppl 1: S289-95, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24444220

RESUMO

The aim of this study was to determine the impact of ACE (I/D), PPARGC1A (G/A) and PPARA (G/C) polymorphisms on footballers performance among 199 Lithuanian professional footballers and 167 sedentary, healthy men (controls). Genotyping was performed using polymerase chain reaction and restriction fragment length polymorphism methods on DNA from leucocytes. Results revealed that the angiotensin-1-coverting enzyme gene (ACE) genotype distribution was significantly different between total football players group (II 23.6%, ID 46.7% and DD 29.6%) and the controls (II 24.6%, ID 29.9% and DD 45.5%; P=0.002). Although investigating PPARGC1A (G/A) and PPARA (G/C) polymorphisms no significant results were obtained in the total football players group, however, significant differences were determined between forwards and controls [PPARGC1A: GG 54.6%, GA 29.5%, AA 15.9% vs. GG 49.7%, GA 44.3% and AA 6.0% (P = 0.044); PPARA: GG 52.3%, GC 40.9%, CC 6.8% vs. GG 72.4%, GC 24.6% and CC 3.0% (P = 0.034)]. In the whole cohort, the odds ratio of the genotype [ACE ID + PPARA GG] being a footballer was 1.69 (95% CI 1.04-2.74), and of [ACE ID + PPARGC1A GG] 1.93 (95% CI 1.10-3.37) and of [ACE II + PPARA GC] 2.83 (95% CI 1.02-7.91) compared to controls. It was revealed that ACE ID genotype together with PPARA GG and PPARGC1A GG as well as ACE II genotype with PPARA GC is probably the 'preferable genotype' for footballers. Summing up, the present study suggests that the ACE, PPARGC1A and PPARA polymorphisms genotypes are associated, separately and in combination, with Lithuanian footballers' performance.


Assuntos
Peptidil Dipeptidase A/genética , Receptores Ativados por Proliferador de Peroxissomo/genética , Polimorfismo Genético/genética , Futebol , Fatores de Transcrição/genética , Adolescente , Adulto , Atletas , Desempenho Atlético , Estudos de Casos e Controles , Genótipo , Humanos , Masculino , Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo , Adulto Jovem
18.
Medicina (Kaunas) ; 49(3): 124-31, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23893056

RESUMO

UNLABELLED: The aim of this study was to expose the pattern of the surgical treatment of colorectal cancer in Lithuania in 2005. MATERIAL AND METHODS: A retrospective analysis of 590 patients treated for colorectal cancer in the surgical departments of the Hospital of Lithuanian University of Health Sciences, the Institute of Oncology of Vilnius University, and Vilnius University Hospital Santariskiu Klinikos in 2005 was performed. Demographic data, preoperative evaluation, postoperative complications assessed according to the Clavien-Dindo classification, the quality of pathological examination, and survival rates were analyzed. RESULTS: A total of 590 patients, 269 women (45.6%) and 321 men (54.4%), were included in this study; the mean age was 68.3 years (SD, 11.2). Tumors were found in the colon of 274 patients (46.4%) and in the rectum of 316 patients (53.6%). An abdominal ultrasound scan was preoperatively performed in 516 patients (87.5%) and a chest x-ray in 316 patients (53.6%); 35 patients (5.9%) underwent abdominal computed tomography. Endorectal ultrasound was done in 99 (31.7%) cases. Neoadjuvant radiotherapy for T3 and T4 rectal tumors was applied in 42 cases (18.1%). Besides, 211 patients (35.8%) developed postoperative complications with an anastomotic leak emerging in 20 cases (3.4%). Death occurred in 7 patients (1.18%). On the average, 11.15 lymph nodes (SD, 6.02) were found in pathological specimens. Circumferential resection margins were assessed in 58 cases (18.4%). The overall 5-year survival rate was 52.06%. CONCLUSIONS: The preoperative evaluation and the treatment of patients with colorectal cancer were not sufficiently consistent in Lithuania in 2005. In order to improve the treatment of colorectal cancer, standardization or the national database of colorectal cancer is necessary.


Assuntos
Neoplasias Colorretais/patologia , Neoplasias Colorretais/cirurgia , Idoso , Neoplasias Colorretais/mortalidade , Feminino , Humanos , Lituânia/epidemiologia , Excisão de Linfonodo , Masculino , Gradação de Tumores , Período Pós-Operatório , Estudos Retrospectivos
19.
Medicina (Kaunas) ; 47(5): 284-90, 2011.
Artigo em Inglês, Lituano | MEDLINE | ID: mdl-21956137

RESUMO

BACKGROUND AND OBJECTIVE: Based on the results of many studies, the angiotensin-converting enzyme (ACE) and the α-actinin-3 (ACTN3) genes are considered strong candidate genes associated with human physical performance. On the other hand, the data regarding the association of the ACE I/D and ACTN3 R/X polymorphisms with human physical performance in different populations have been conflicting. The objective of our research was to evaluate the significance of these genetic variants on muscle performance phenotype in Lithuanian athletes. MATERIAL AND METHODS: The study involved 193 Lithuanian elite athletes and 250 controls from the general Lithuanian population. Genotyping was performed by polymerase chain reaction and/or restriction fragment length polymorphism analysis. Anthropometric measurements and muscle strength (grip strength and vertical jump) were measured. RESULTS: It was determined that ACE I/I and I/D genotypes were more frequent in the athlete group compared with the general Lithuanian population. The results of grip strength and vertical jump were better in the athletes with the ACE I/I and ACTN3 X/X genotype compared with the athletes with ACE D/D and ACTN3 R/R, respectively. CONCLUSIONS: The ACE I and ACTN3 X alleles determine speed and power for Lithuanian athletes. In line with other researchers, it can be confirmed that the absence of a functional ACTN3 in fast-twitch muscle fibers is compensated. Lithuanian athletes who are carriers of the ACE I/I and I/D as well as ACTN3 X/X and R/X genotypes have the potential to achieve better results in power-requiring sports; therefore, the analyzed polymorphisms of these genes might be used as the criteria for the sport type selection.


Assuntos
Actinina/genética , Atletas , Fibras Musculares de Contração Rápida/fisiologia , Força Muscular/genética , Peptidil Dipeptidase A/genética , Polimorfismo Genético , Adolescente , Adulto , Feminino , Humanos , Lituânia , Masculino , Pessoa de Meia-Idade , Adulto Jovem
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