• MeSH
• dospělí MeSH
• kombinovaná farmakoterapie metody   MeSH
• lidé středního věku MeSH
• mladiství MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• senioři MeSH
• svalová spasticita etiologie   MeSH
• tetanový toxoid terapeutické užití   MeSH
• tetanus * prevence a kontrola   terapie   MeSH
• trismus etiologie   MeSH
• vakcinace metody   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH
• Geografické názvy
• Arménie MeSH
• Česká republika MeSH
• Indonésie MeSH
• Kanada MeSH
• Kostarika MeSH
• Maroko MeSH
• Peru MeSH
• Turecko MeSH
• Uganda MeSH

Protein tyrosine phosphatase, nonreceptor type 22 (PTPN22), is an archetypal non-HLA autoimmunity gene. It is one of the most prominent genetic contributors to type 1 diabetes mellitus outside the HLA region, and prevalence of its risk variants is subject to enormous geographic variability. Here, we address the genetic background of patients with type 1 diabetes mellitus of Armenian descent. Armenia has a population that has been genetically isolated for 3000 years. We hypothesized that two PTPN22 polymorphisms, rs2476601 and rs1310182, are associated with type 1 diabetes mellitus in persons of Armenian descent. In this association study, we genotyped the allelic frequencies of two risk-associated PTPN22 variants in 96 patients with type 1 diabetes mellitus and 100 controls of Armenian descent. We subsequently examined the associations of PTPN22 variants with the manifestation of type 1 diabetes mellitus and its clinical characteristics. We found that the rs2476601 minor allele (c.1858T) frequency in the control population was very low (q = 0.015), and the trend toward increased frequency of c.1858CT heterozygotes among patients with type 1 diabetes mellitus was not significant (OR 3.34, 95% CI 0.88-12.75; χ2 test p > 0.05). The control population had a high frequency of the minor allele of rs1310182 (q = 0.375). The frequency of c.2054-852TC heterozygotes was significantly higher among the patients with type 1 diabetes mellitus (OR 2.39, 95% CI 1.35-4.24; χ2 test p < 0.001), as was the frequency of the T allele (OR 4.82, 95% CI 2.38-9.76; χ2 test p < 0.001). The rs2476601 c.1858CT genotype and the T allele correlated negatively with the insulin dose needed three to six months after diagnosis. The rs1310182 c.2054-852CC genotype was positively associated with higher HbA1c at diagnosis and 12 months after diagnosis. We have provided the first information on diabetes-associated polymorphisms in PTPN22 in a genetically isolated Armenian population. We found only a limited contribution of the prototypic gain-of-function PTPN22 polymorphism rs2476601. In contrast, we found an unexpectedly close association of type 1 diabetes mellitus with rs1310182.

• MeSH
• diabetes mellitus 1. typu * genetika   MeSH
• fosfatasy MeSH
• introny MeSH
• lidé MeSH
• polymorfismus genetický MeSH
• tyrosinfosfatasa nereceptorového typu 22 genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Arménie MeSH

Counting chromosomes is the first step towards a better understanding of the karyotype evolution and the role of chromosome evolution in species diversification within Carex; however, the chromosome count is not known yet for numerous sedges. In this paper chromosome counts were performed for 23 Carex taxa from Armenia, Austria, the Czech Republic, and Poland. Chromosome numbers were determined for the first time in three species (Carex cilicica, 2n = 54; C. phyllostachys, 2n = 56; C. randalpina, 2n = 78), two subspecies (C. muricata subsp. ashokae, 2n = 58; C. nigra subsp. transcaucasica, 2n = 84) and two hybrids (C. ×decolorans, 2n = 74; C. ×walasii, 2n = 108). Among the taxa whose number of chromosomes had been known before, the largest difference was found in C. hartmaniorum (here 2n = 52) and C. aterrima subsp. medwedewii (here 2n = 52). A difference in the chromosome count was demonstrated for C. cilicica (2n = 54) versus the species of the section Aulocystis (2n = 30 to 40) and for C. tomentosa (2n = 48) versus the species of the section Acrocystis (2n = 18 to 38). The results of this study indicate that the position of C. cilicica in Aulocystis section may raise doubts. Attention was paid to the relationship between C. phyllostachys and taxa of the subgenus Carex section Gynobasidae.

• MeSH
• Carex (rostlina) klasifikace   genetika   MeSH
• chromozomy rostlin genetika   MeSH
• fylogeneze * MeSH
• genetická variace * MeSH
• molekulární evoluce * MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Arménie MeSH
• Česká republika MeSH
• Polsko MeSH
• Rakousko MeSH

OBJECTIVES: A lack of physician training is a major obstacle for effective tobacco dependence treatment. This study assessed the feasibility of an active learning training program and its effects on smoking cessation counselling skills of medical residents in Armenia, an Eastern European country with high smoking prevalence. STUDY DESIGN: The study used a pre-post assessment of smoking cessation counselling activities and a course evaluation survey to assess the feasibility of the intervention in a different environment. METHODS: We adapted an active learning training model developed in Switzerland. Residents were trained in Yerevan, Armenia, using video-taped counselling sessions, role plays, standardized patients (actors), group discussions and immediate feedback. The training evaluation was done using a semi-structured anonymous questionnaire. The study assessed the physicians' self-reported smoking cessation counselling activities before and 6 months after the training. A non-parametric Mann-Whitney test was used to assess pre-post differences in physicians' counselling skills measured on ordinal scale. RESULTS: Of the 37 residents trained, 75% were female, 89% aged 20-29 years and 83% were never-smokers. Twenty-eight trainees (76%) returned the course evaluation survey and 32 (86%) answered a questionnaire on skills self-assessment at 6 months follow-up. The majority agreed the course was successful in achieving its learning objectives (64%-96%) and increased their confidence in assisting their patients to quit (74%). After 6 months, the physicians were more likely than at baseline to adhere to evidence-based counselling strategies, including assessing the smoking status and dependence and matching the advice to the patient motivation. The training did not, however, improve the prescription of tobacco dependence medications. CONCLUSIONS: Six months after the training, several self-reported smoking cessation counselling activities had significantly improved compared to baseline. This training model is acceptable for medical residents in Yerevan, Armenia and offers a promising approach in addressing the lack of physician counselling skills in similar settings and populations.

• MeSH
• dospělí MeSH
• hodnocení programu MeSH
• kontinuální vzdělávání lékařů metody   organizace a řízení   statistika a číselné údaje   MeSH
• kuřáci psychologie   MeSH
• lékaři statistika a číselné údaje   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• odvykání kouření metody   MeSH
• osoby simulující pacienta ve výuce MeSH
• poradenství výchova   statistika a číselné údaje   MeSH
• poruchy vyvolané užíváním tabáku diagnóza   terapie   MeSH
• problémově orientovaná výuka metody   organizace a řízení   statistika a číselné údaje   MeSH
• průzkumy a dotazníky statistika a číselné údaje   MeSH
• studie proveditelnosti MeSH
• vzdělávací modely MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Arménie MeSH

BACKGROUND: Intellectual disability (ID) is a feature of many rare diseases caused by thousands of genes. This genetic heterogeneity implies that pathogenic variants in a specific gene are found only in a small number of patients, and difficulties arise in the definition of prevailing genotype and characteristic phenotype associated with that gene. One of such very rare disorders is autosomal recessive ID type 66 (OMIM #618221) caused by defects in C12orf4. Up to now, six families have been reported with mostly truncating variants. The spectrum of the clinical phenotype was not emphasized in previous reports, and detailed phenotype was not always available from previous patients, especially from large cohort studies. METHODS: Exome sequencing was performed in a consanguineous Armenian family with two affected adult brothers. RESULTS: The patients carry a novel homozygous nonsense C12orf4 variant. The integration of previous data and phenotyping of the brothers indicate that the clinical picture of C12orf4 defects involves hypotonia in infancy, rather severe ID, speech impairment, and behavioral problems such as aggressiveness, unstable mood, and autistic features. Several other symptoms are more variable and less consistent. CONCLUSION: This rather nonsyndromic and nonspecific clinical picture implies that additional patients with C12orf4 defects will likely continue to be identified using the "genotype-first" approach, rather than based on clinical assessment. The phenotype needs further delineation in future reports.

• MeSH
• alely MeSH
• dospělí MeSH
• faciální stigmatizace MeSH
• fenotyp * MeSH
• geny recesivní * MeSH
• homozygot MeSH
• intracelulární signální peptidy a proteiny genetika   MeSH
• jednonukleotidový polymorfismus MeSH
• lidé MeSH
• mentální retardace diagnóza   genetika   MeSH
• mutační analýza DNA MeSH
• pokrevní příbuzenství * MeSH
• předškolní dítě MeSH
• rodokmen MeSH
• sekvenování exomu MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Arménie MeSH

Telomeres are protective fragments on chromosome ends involved in maintaining genome stability, preventing chromosomal fusions, regulation of cell division. It was shown that telomere attrition rate is accelerated in age-related diseases, as well as in response to physiological and psychosocial stress. The aim of this study was to evaluate relative leukocyte telomere length (LTL) in patients with post traumatic stress disorder (PTSD), as well as to investigate association of functional SNPs of telomerase TERC and TERT genes with LTL and PTSD. The relative LTL was measured by multiplex quantitative PCR method; genotyping of TERC rs12696304, TERT rs7726159 and rs2736100 was performed by PCR with sequence specific primers. Comparison of LTL in diseased and healthy subjects showed that PTSD patients had shorter average LTL than controls. Also, the frequency and the carriage rate of the TERT rs2736100*T allele was higher in PTSD patients compared to controls. Overall our results are in line with previous research in different populations. Furthermore, we have demonstrated that rs2736100 of TERT gene was significantly associated with PTSD and the minor allele of this polymorphism may be considered as a risk factor for PTSD in the Armenian population.

• MeSH
• dospělí MeSH
• jednonukleotidový polymorfismus MeSH
• leukocyty metabolismus   MeSH
• lidé středního věku MeSH
• lidé MeSH
• posttraumatická stresová porucha krev   enzymologie   genetika   MeSH
• riziko MeSH
• RNA genetika   MeSH
• senioři MeSH
• telomerasa genetika   MeSH
• zkracování telomer genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Arménie MeSH

Many reports independently confirm that even more than a quarter of a century after the collapse of the Soviet Union, the results of research and development in those countries that were under its influence are insufficient in comparison to the rest of the world. Given that human intelligence is not distributed unevenly and that science is a powerful driving force for the future of an economy, there is a hidden problem, which, if it can be resolved, may release great economic potential. The first generation of researchers from Armenia, Czech Republic, Georgia, Slovakia and Ukraine, who successfully completed their education after the political revolution, were surveyed. The survey revealed many similarities with regards to ethics, but that there is mounting evidence that the main cause of the current situation is the state of the local legal systems. The conclusion was drawn that a conceptual change in staffing within the relevant legal systems is required to release potential and stimulate wealth creation.

• MeSH
• ekonomický rozvoj MeSH
• etika výzkumu * MeSH
• lidé MeSH
• mravy * MeSH
• prosazení zákonů etika   MeSH
• průzkumy a dotazníky MeSH
• sociální spravedlnost MeSH
• výzkum * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Arménie MeSH
• Česká republika MeSH
• Gruzie MeSH
• Slovenská republika MeSH
• SSSR MeSH
• Ukrajina MeSH

We provide the first commented checklist of Armenian mayflies, based on all relevant literature and recent extensive sampling of 72 localities throughout Armenia during 2011, 2014, and 2015. Altogether 46 species are listed, eight of them reported from Armenia for the first time. One new species, Ecdyonurus (Ecdyonurus) eurycephalus sp. nov. is described (larva and male imago) based on morphological and molecular (COI) data. The species is characterized by a unique head shape in male imago and by the presence of tracheal filaments on gill plate VII in the larval stage.

• MeSH
• anatomické struktury zvířat MeSH
• Ephemeroptera * MeSH
• larva MeSH
• rozšíření zvířat * MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Arménie MeSH

Thirty-two skeletons from burial ground Bakheri chala were analysed macroscopically and X-ray for pathological conditions such as trepanation, traumatic injuries, infectious disease and dental pathology. This study has shown that average age at death was relatively high. Trepanation with rectangular sawing for the first time found in the Armenia at two individuals. Trauma to the skull was common, which suggests a high level of inter-personal violence. We here report a case of decapitation. Bakheri chala site showed a high frequency of auditory exostosis. The dental pathology conditions of this population were numerous. Agriculture introduced people to carbohydrates, or sugars, which affect the teeth and cause dental caries. The staple diet of ancient population from Shnogh river consisted of wine, bread, vegetables, and fruits. Males do show a slightly higher rate of wear than females possibly suggesting a greater proportion of bread in the diet of males.

• MeSH
• archeologie * metody   MeSH
• dějiny starověku MeSH
• exhumace MeSH
• infekční nemoci MeSH
• kraniocerebrální traumata MeSH
• lidé MeSH
• nemoci zubů MeSH
• tělesné pozůstatky MeSH
• trepanace MeSH
• zdravotní stav MeSH
• Check Tag
• dějiny starověku MeSH
• lidé MeSH
• Geografické názvy
• Arménie MeSH

• MeSH
• poskytování zdravotní péče metody   MeSH
• programy národního zdraví organizace a řízení   MeSH
• reforma zdravotní péče metody   MeSH
• zdravotnická zařízení - plánování metody   MeSH
• Geografické názvy
• Anglie MeSH
• Arménie MeSH
• Belgie MeSH
• Estonsko MeSH
• Evropa MeSH
• Kyrgyzstán MeSH
• Portugalsko MeSH
• Turecko MeSH

• Konspekt
• Veřejné zdraví a hygiena
• NLK Obory
• management, organizace a řízení zdravotnictví
• veřejné zdravotnictví
• NLK Publikační typ
• publikace WHO