Gęste mapowanie regionu VNTR genu insuliny w zespole policystycznych jajników w populacji kobiet z Europy Środkowej

Introduction: Insulin gene VNTR was associated with polycystic ovary syndrome (PCOS) in some studies but not in others. This couldb be due to the heterogeneity of the definition of PCOS and/or the use of inappropriate gene mapping strategies.Material and methods: In this investigation, the association of VNTR with PCOS was explored in a population of women from Central Europe (377 cases and 105 controls) in whom PCOS was diagnosed according to Rotterdam criteria. Seven SNPs: rs3842756 (G/A), rs3842755 (G/T), rs3842754 (C/T), rs3842753 (A/C), rs3842752 (C/T), rs3842748 (G/C), and rs689 (T/A) were genotyped in a portion of the population (160 cases and 95 controls) by sequencing or by SSO-PCR. Analysis of linkage disequilibrium (LD) pattern allowed selecting three tagSNPs (rs3842754, rs3842748, and rs689), which were genotyped in the rest of the population by KASPar.Results: Six haplotypes were reconstructed, among which three (h1, h2 and h6) were more frequent. Statistical analysis allowed observation of the association of the SNP rs3842748, through its GC genotype, with obesity in PCOS (P = 0.049; OR CI95% 1,59 [1.00–2.51]) and in classical PCOS (YPCOS) (P = 0.010), as well as the correlation of the SNP rs689 and the pair of haplotypes h1/h1 with higher levels of testosteronaemia in the PCOS group, although this was at the limit of significance (P = 0.054)Conclusion: These results are in accordance with some studies in literature and highlight the role of insulin gene VNTR in complex metabolic disorders. (Endokrynol Pol 2015; 66 (3): 198–206)Wstęp: W niektórych badaniach, zmienna liczba powtórzeń tandemowych (VNTR) genu insuliny była związana z zespołem policystycznych jajników (PCOS), lecz w innych taki związek nie występował. Mogło tak być z powodu heterogeniczności definicji PCOS i/lub stosowania nieprawidłowych strategii mapowania genów.Materiał i metody: W niniejszym badaniu, związek VNTR z PCOS zbadano w populacji kobiet pochodzących z Europy Środkowej (377 przypadków chorobowych oraz 105 osób kontrolnych), u których zdiagnozowano PCOS według kryteriów rotterdamskich. Siedem polimorfizmów pojedynczego nukleotydu (SNP): rs3842756 (G/A), rs3842755 (G/T), rs3842754 (C/T), rs3842753 (A/C), rs3842752 (C/T), rs3842748 (G/C), oraz rs689 (T/A) wytypowano w części populacji (160 przypadków chorobowych i 95 osób kontrolnych) poprzez sekwencjonowanie lub SSO-PCR. Analiza wzoru niezrównoważenia sprzężeń (LD) pozwoliła na selekcję trzech SNP znacznikowych (tagSNP) (rs3842754, rs3842748 i rs689), które wyselekcjonowano w pozostałej części populacji metodą KASPar.Wyniki: Sześć haplotypów odtworzono, z których 3 (h1, h2 i h6) występowały częściej. Analiza statystyczna pozwoliła na obserwację związku SNP rs3842748, poprzez genotyp GC, z otyłością w PCOS (P = 0,049; OR CI 95% 1,59 [1,00–2,51]) i klasycznym PCOS (YPCOS) (P = 0,010), jak również korelacji SNP rs689 i pary haplotypów h1/h1 z wyższym stężeniem testosteronemii w grupie PCOS, chociaż wynik ten znajdował się na granicy istotności (P = 0,054).Wnioski: Powyższe wyniki są zgodne z niektórymi badaniami w piśmiennictwie i podkreślają role VNTR genu insuliny w złożonych zaburzeniach metabolicznych. (Endokrynol Pol 2015; 66 (3): 198–206

Diversity of Y-chromosomal and mtDNA Markers Included in Mediscope Chip within Two Albanian Subpopulations from Croatia and Kosovo: Preliminary Data

The aim of this preliminary study is to analyze genetic specificity of Kosovo Albanians comparing with neighboring populations using new genetic tool - MEDISCOPE gene chip, to investigate the feasibility of this approach. We collected 37 DNA samples (9 Croats, 17 Albanians from Croatia and 11 Albanians from Kosovo) from unrelated males born in Croatia and Kosovo. Additionally, samples were expanded with female individuals and mtDNA analysis included a total of 61 samples (15 Croats, 23 Albanians from Croatia and 23 Albanians from Kosovo). This pilot study suggests that the usage of the MEDISCOPE chip could be recognized as an efficient tool within recognition of the population genetic specificity even within extremely small sample size

Branched-chain amino acid database integrated in MEDIPAD software as a tool for nutritional investigation of mediterranean populations

Branched-chained amino acids (BCAA) are essential dietary components for humans and can act as potential biomarkers for diabetes development. To efficiently estimate dietary intake, we developed a BCAA database for 1331 food items found in the French Centre d'Information sur la Qualité des Aliments (CIQUAL) food table by compiling BCAA content from international tables, published measurements, or by food similarity as well as by calculating 267 items from Greek, Turkish, Romanian, and Moroccan mixed dishes. The database embedded in MEDIPAD software capable of registering 24 h of dietary recalls (24HDR) with clinical and genetic data was evaluated based on archived 24HDR of the Saint Pierre Institute (France) from 2957 subjects, which indicated a BCAA content up to 4.2 g/100 g of food and differences among normal weight and obese subjects across BCAA quartiles. We also evaluated the database of 119 interviews of Romanians, Turkish and Albanians in Greece (27⁻65 years) during the MEDIGENE program, which indicated mean BCAA intake of 13.84 and 12.91 g/day in males and females, respectively, comparable to other studies. The MEDIPAD is user-friendly, multilingual, and secure software and with the BCAA database is suitable for conducting nutritional assessment in the Mediterranean area with particular facilities for food administration

Aspects about Statistical Inference

There are two major types of data sources that can be used when a phenomenon or a variable is investigated: the population and the sample. Based upon the sample, various facts concerning the entire population can be deduced; this process is called statistical inference. A major problem of the inference is the variability

Aspects about Statistical Inference

There are two major types of data sources that can be used when a phenomenon or a variable is investigated: the population and the sample. Based upon the sample, various facts concerning the entire population can be deduced; this process is called statistical inference. A major problem of the inference is the variability.inference; population; sample; variability.

Evaluation of Dispersion Methods and Mechanical Behaviour of Glass Fibre Composites with Embedded Self-Healing Systems

The present paper is focused on evaluating the most suitable dispersion method in the epoxy matrix of two self-healing systems containing dicyclopentadiene (DCPD) and 5-ethylidene-2-norbornene (ENB) monomers encapsulated in a urea-formaldehyde (UF) shell, prior to integration, fabrication and impact testing of specimens. Both microstructural analysis and three-point bending tests were performed to evaluate and assess the optimum dispersion method. It was found that ultrasonication damages the microcapsules of both healing systems, thus magnetic stirring was used for the dispersion of both healing systems in the epoxy matrix. Using magnetic dispersion, 5%, 7%, 10%, 12% and 15% volumes of microcapsules were embedded in glass fibre composites. Some of the samples were subjected to thermal cycling between −20 °C and +100 °C for 8 h, to evaluate the behaviour of both healing systems after temperature variation. Impact test results showed that the mechanical behaviour decreases with increasing microcapsule volume, while for specimens subjected to thermal cycling, the impact strength increases with microcapsule volume up to 10%, after which a severe drop in impact strength follows. Retesting after 48 h shows a major drop in mechanical properties in specimens containing 15% MUF-ENB microcapsules, up to total penetration of the specimen

DIFFERENTIAL DIAGNOSIS BETWEEN STATIN MYOTOXICITY AND INFLAMMATORY MYOSITIS – CASE PRESENTATION

Inflammatory myopathies, include polymyositis, dermatomyositis, inclusion body myositis and necrotising myopathy, but their diagnosis requires a comprehensive differential, in order to optimise treatment and to have the best outcome. One of the most controversial diagnosis in this situation is drug related myotoxicity, since the symptoms may vary significantly, but usually include muscle weakness and myalgia accompanied by elevated creatine kinase serum levels Patient background. We report a case of a 70 year-old patient, treated with statins, with onset of symptoms since one year with tolerable myalgia, accompanied by mild muscle weakness shortly after and progressive worsening in the last couple of months. Interruption of statins was recommended based on current symptoms and elevated muscle enzymes: creatine kinase (CK) x3 fold and aspartate aminotransferase (AST) x2 fold normal range. Investigations. Autoimmunity panel including anti-nuclear and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibodies was negative. The needle EMG was abnormal, with diffuse fibrillation potentials in almost all investigated sites, both in the proximal and distal muscles. Complex repetitive discharges were also observed in most muscles tested. Existence of clear myogenic signs on needle EMG revealed the probable cause for the clinical presentation as being myogenic in nature. Discussion. Statin-induced myopathy (SIM) is typically self-limited showing remission in the following weeks or months after statin cessation. Although EMG studies support the presence of typical myopathy features in SIM, it cannot point-out specific changes attributed to a statin-related dysfunction. Patient outcome was favorable on hospital discharge. On a two week check-up, she reported improvement in muscle strength, range of motion and remitted myalgia. Repeated blood work showed a descending trend in both CK and AST, with values in normal range. Conclusions. The clinical case, the whole algorithm of clinical evaluation and paraclinical tests that lead to final diagnosis and the literature review, highlight the importance of an exhaustive approach. Electrophysiology tests offer important aid to the physician in the approach of patients with an underlying toxic myopathy in initial diagnosis, follow-up and biopsy yield if necessary

Branched-Chain Amino Acid Database Integrated in MEDIPAD Software as a Tool for Nutritional Investigation of Mediterranean Populations

Branched-chained amino acids (BCAA) are essential dietary components for humans and can act as potential biomarkers for diabetes development. To efficiently estimate dietary intake, we developed a BCAA database for 1331 food items found in the French Centre d’Information sur la Qualité des Aliments (CIQUAL) food table by compiling BCAA content from international tables, published measurements, or by food similarity as well as by calculating 267 items from Greek, Turkish, Romanian, and Moroccan mixed dishes. The database embedded in MEDIPAD software capable of registering 24 h of dietary recalls (24HDR) with clinical and genetic data was evaluated based on archived 24HDR of the Saint Pierre Institute (France) from 2957 subjects, which indicated a BCAA content up to 4.2 g/100 g of food and differences among normal weight and obese subjects across BCAA quartiles. We also evaluated the database of 119 interviews of Romanians, Turkish and Albanians in Greece (27–65 years) during the MEDIGENE program, which indicated mean BCAA intake of 13.84 and 12.91 g/day in males and females, respectively, comparable to other studies. The MEDIPAD is user-friendly, multilingual, and secure software and with the BCAA database is suitable for conducting nutritional assessment in the Mediterranean area with particular facilities for food administration

Branched-Chain Amino Acid Database Integrated in MEDIPAD Software as a Tool for Nutritional Investigation of Mediterranean Populations

Branched-chained amino acids (BCAA) are essential dietary components for humans and can act as potential biomarkers for diabetes development. To efficiently estimate dietary intake, we developed a BCAA database for 1331 food items found in the French Centre d'Information sur la Qualite des Aliments (CIQUAL) food table by compiling BCAA content from international tables, published measurements, or by food similarity as well as by calculating 267 items from Greek, Turkish, Romanian, and Moroccan mixed dishes. The database embedded in MEDIPAD software capable of registering 24 h of dietary recalls (24HDR) with clinical and genetic data was evaluated based on archived 24HDR of the Saint Pierre Institute (France) from 2957 subjects, which indicated a BCAA content up to 4.2 g/100 g of food and differences among normal weight and obese subjects across BCAA quartiles. We also evaluated the database of 119 interviews of Romanians, Turkish and Albanians in Greece (27-65 years) during the MEDIGENE program, which indicated mean BCAA intake of 13.84 and 12.91 g/day in males and females, respectively, comparable to other studies. The MEDIPAD is user-friendly, multilingual, and secure software and with the BCAA database is suitable for conducting nutritional assessment in the Mediterranean area with particular facilities for food administration