Influence of the MCT1-T1470A polymorphism (rs1049434) on repeated sprint ability and blood lactate accumulation in elite football players: a pilot study.

PURPOSE: The aim of this study is to investigate the influence of the MCT1 T1470A polymorphism (rs1049434) on repeated sprint ability (RSA) and lactate accumulation after RSA testing. METHODS: Twenty-six elite Italian male football players (age: 17.7 ± 0.78 years; height: 179.2 ± 7.40 cm; weight: 72.1 ± 5.38 kg) performed RSA testing (6 × 30-m sprints with an active recovery between sprints), and lactate measurements were obtained at 1, 3, 5, 7, and 10 min post-exercise. Genotyping for the MCT1 T1470A polymorphism was performed using PCR. RESULTS: Genotype distributions were in Hardy-Weinberg equilibrium, being 42% wildtype (A/A), 46% heterozygotes (T/A), and 12% mutated homozygotes (T/T). Significant differences between genotypic groups were found in the two final sprint times of the RSA test. Under a dominant model, carriers of the major A-allele (Glu-490) in the dominant model showed a significantly lower sprint time compared to footballers with the T/T (Asp/Asp) genotype (5th Sprint time: A/A + T/A = 4.60 s vs TT = 4.97 s, 95% CI 0.07-0.67, p = 0.022; 6th Sprint: A/A + T/A = 4.56 s vs T/T = 4.87 s, 95% CI 0.05-0.57, p = 0.033). CONCLUSIONS: The T1470A (Glu490Asp) polymorphism of MCT1 was associated with RSA. Our findings suggest that the presence of the major A-allele (Glu-490) is favourable for RSA in football players.

Design of Si-rich nitride interposer waveguides for efficient light coupling from InP-based QD-emitters to Si3N4 waveguides on a silicon substrate.

In this paper, we present a systematic analysis for the design of Si-rich-nitride (SRN) based interposer waveguide layers interfacing InP-based devices and Si3N4 waveguides, towards monolithic co-integration of active and passive elements through a Back-End-Of-Line process. The investigation is performed via extensive 2D-eigenvalue and 3D-FDTD electromagnetic simulations and focuses on three different interposer designs, where performance in terms of coupling loss and back reflections is exchanged for fabrication complexity. In addition, a tolerance analysis is performed for the demonstration of the proposed coupling scheme's resilience to fabrication misalignments. The calculations use for the refractive index of the SRN interposer, real values extracted from ellipsometry measurements of a novel ultra-Si-rich-nitride material developed and engineered for this purpose. This new material provides tunability in the real part of the refractive index with low-stress crack free samples grown up to 500nm thickness. Test structures with cutbacks featuring waveguides of 500 × 500nm2 cross section formed via e-beam lithography reveal 15dB/cm propagation losses in line with similar amorphous silicon-rich nitride (aSi:N) materials. The proposed coupling concept although assumes an InP active medium, can be applied also with GaAs based lasers and dual facet devices such as Semiconductor Optical Amplifiers (SOAs) and electroabsorption modulators. In addition, all proposed designs are compatible in terms of critical dimensions with low cost 248nm DUV lithography targeting to maximize the low-cost advantage of the Si3N4 platform with very high coupling performance. Our results are expected to pave the way for the generation of a versatile, low cost, high performance monolithic InP-Quantum-Dot (QD)/Si3N4 platform on a common Si substrate.

Retroperitoneal lymphadenopathy secondary to joint replacement wear and debris, a case report.

We present a case of a 63-year-old female who initially presented with complaints of vulvar swelling and was subsequently found to have isolated retroperitoneal lymphadenopathy on imaging. Biopsy was performed and was indicative of weakly polarizable material that raised the consideration of joint prosthesis wear debris. Due to the patient's concern for an underlying malignancy of gynecologic origin, a laparoscopic lymphadenectomy was ultimately performed and final pathology was consistent with reactive changes due to joint wear and debris from the patient's bilateral total knee arthroplasties placed approximately 16 years prior. While this is a rare presentation, it is important to consider this in the differential of retroperitoneal lymphadenopathy as these patients are often referred to a gynecologic oncologist for further workup.

Allele and haplotype diversity of 12 X-STRs in Sardinia.

The analysis of clusters of tightly linked X-chromosome short tandem repeat (STR) markers can assist the interpretation of complex kinship cases. However, when linkage disequilibrium (LD) is present in the population of origin of tested individuals, haplotype rather than allele frequencies should be used in likelihood calculations. The diversity of twelve X-STRs arranged in four linkage groups (I: DXS10148-DXS10135-DXS8378; II: DXS7132-DXS10079-DXS10074; III: DXS10103-HPRTB-DXS10101; IV: DXS10146-DXS10134-DXS7423) was tested in a Sardinian population sample (n=516) including three open populations from the Northern, Central and Southern part of the island, and three isolates (Benetutti, Desulo, Carloforte). Evidence of LD was detected in Sardinia within each linkage group. Significant differences in haplotype and allele frequency distribution of X-STR markers was seen between isolates and open populations, which on the contrary appeared highly homogeneous. The percentage of Sardinian haplotypes previously unobserved in a similar dataset compiled for the Italian population was: 76.3% (linkage group I), 61.3% (linkage group II), 54.1% (linkage group III), 58.9% (linkage group IV). Significant pairwise genetic differences were seen between mainland Italy, the three Sardinian isolates, and the open population of Southern Sardinia. The study confirms the presence of high levels and complex patterns of LD along the X chromosome in Sardinia, and provides population-specific haplotype data for biostatistical evaluation in kinship testing.

Migrations, admixture and genetic diversity in Central Argentinian Patagonia: analysis of autosomal Alu polymorphisms / Migraciones, mestizaje y diversidad genética en la Patagonia Central Argentina: análisis de polimorfismos autosómicos Alu

This study aimed to analyze autosomal Alu insertions in three localities from Patagonia Argentina belonging to the Andes region and the coast of the Chubut province. Knowledge of the genetic diversity of these populations, along with the genealogical data, will contribute to better understand historical information, differential migration process and bio-demographic composition of the Central Patagonia region. In order to achieve this objective, 16 autosomal Alu insertion polymorphisms were genotyped: ACE, APO-A1, TPA25, FXIIIB, A25, HS4.32, D1, HS4.69, HS2.43, Sb19.12, Yb8NBC120, Sb19.3, Yb8NBC125, Ya5NBC221, DM, and CD4. Our results showed that the Central Patagonia region presents a complex continental genetic admixture with marked Native American roots (39% ± 1.2), Eurasian (56% ± 1.73) and, to a lesser extent, African (5% ± 1.7). The genetic proximity of the Patagonian samples in relation to groups from Europe and Northern Africa, but with a displacement towards the native communities, constitutes a clear indicator of the differential admixture process that took place in different regions of Argentina. Moreover, genetic differences were observed between Patagonian localities and Bahía Blanca (Central region of Argentina). These observations warned us that population genetic constitution analysis cannot be approached without bearing in mind the regional particularities, which are the result of the different historical, migratory, social-economic and demographic processes that occurs in the country.

Este estudio tiene como objetivo el análisis de las inserciones autosómicas Alu en tres localidades de la Patagonia argentina localizadas en la región andina y costera de la provincia de Chubut. El conocimiento de la diversidad genética de estas poblaciones, junto con los datos genealógicos, contribuirán a una mejor comprensión de la información histórica, los procesos migratorios diferenciales y la composición bio-demográfica de la región central Patagónica. Para alcanzar este objetivo se analizaron 16 polimorfismos autosómicos de inserción Alu: ACE, APO-A1, TPA25, FXIIIB, A25, HS4.32, D1, HS4.69, HS2.43, Sb19.12, Yb8NBC120, Sb19.3, Yb8NBC125, Ya5NBC221, DM y CD4. Nuestros resultados mostraron que la región central Patagónica presenta una mezcla genética continental compleja de marcadas raíces nativo americanas 39% (± 1.2), eurasiáticas 56% (± 1.73) y, en menor medida, africanas 5% (± 1.7). La proximidad genética de las muestras patagónicas a los grupos de Europa y del Norte de África, pero con un mayor desplazamiento hacia las comunidades nativas, constituye un claro indicador del proceso de mezcla diferencial que tuvo lugar en las distintas regiones de la Argentina. Por otra parte, las diferencias genéticas observadas entre las localidades de Patagonia y Bahía Blanca (región central de la Argentina), nos advierten que no puede analizarse la constitución genética de las poblaciones sin tener en cuenta las particularidades regionales, que son el resultado de los diferentes procesos históricos, migratorios, socio-económicos y demográficos que ocurrieron en el interior del país.

Investigation of extended Y chromosome STR haplotypes in Sardinia.

Y-chromosomal variation of selected single nucleotide polymorphisms (SNPs) and 32 short tandem repeat (STR) loci was evaluated in Sardinia in three open population groups (Northern Sardinia, n=40; Central Sardinia, n=56; Southern Sardinia, n=91) and three isolates (Desulo, n=34; Benetutti, n=45, Carloforte, n=42). The tested Y-STRs consisted of Yfiler® Plus markers and the seven rapidly mutating (RM) loci not included in the YFiler® Plus kit (DYF399S1, DYF403S1ab, DYF404S1, DYS526ab, DYS547, DYS612, and DYS626). As expected, inclusion of additional Y-STR loci increased haplotype diversity (h), though complete differentiation of male lineages was impossible even by means of RM Y-STRs (h=0.99997). Analysis of molecular variance indicated that the three open populations were fairly homogeneous, whereas signs of genetic heterogeneity could be detected when the three isolates were also included in the analysis. Multidimensional scaling analysis showed that, even for extended haplotypes including RM Y-STR markers, Sardinians were clearly differentiated from populations of the Italian peninsula and Sicily. The only exception was represented by the Carloforte sample that, in accordance with its peculiar population history, clustered with Northern/Central Italian populations. The introduction of extended forensic Y-STR panels, including highly variable RM Y-STR markers, is expected to reduce the impact of population structure on haplotype frequency estimations. However, our results show that the availability of geographically detailed reference databases is still important for the assessment of the evidential value of a Y-haplotype match.

Influence of the COL5A1 rs12722 on musculoskeletal injuries in professional soccer players.

AIM: The aim of this study was to investigate whether COL5A1 rs12722 polymorphism is associated with musculoskeletal injuries in elite soccer players. METHODS: Fifty-four male professional soccer players of European origin (25.9±4.3 years) were recruited from a team participating at the Official Italian Professional Championship during four consecutive seasons (2009-2013). The incidence and severity of musculoskeletal injuries and its relationship to COL5A1 rs12722 polymorphism were analyzed. DNA was extracted from buccal swab. The cohort was genotyped for the COL5A1 rs12722 single nucleotide polymorphism (SNP) through PCR and enzyme digestion with BstUI, and musculoskeletal injuries data were collected during the four seasons. Injuries were categorized under 5 degrees of severity based on the number of days' absence, while musculoskeletal injuries incidence was calculated per 1,000 hours of exposure to training and matches ((∑ injuries/∑ exposure hours) x 1000). RESULTS: No significant differences were found among genotypes for incidence of musculoskeletal injuries (P=0.683). Participants with TT genotype (3.71±0.5, N.=4) showed a trend (P=0.193) versus an higher severity of injuries than individuals with TC (2.98±0.8, N.=10) or CC (2.75±0.95, n=4) genotypes. The COL5A1 rs12722 accounted for 44% of severity of injuries (P=0.002). CONCLUSION: In conclusion, the COL5A1 rs12722 was found to be associated with severity of musculoskeletal injuries but not with incidence of musculoskeletal injuries in top-level soccer players.

Non-random distribution of 17 Y-chromosome STR loci in different areas of Sardinia.

Allele frequencies of 17 Y-chromosome short tandem repeat (STR) loci, included in the AmpFlSTR® Y-FilerTM amplification kit, were analyzed for the first time in different samplings (N=268) from Sardinia, Italy. Samples were collected from three isolated populations (N=139) and three open populations (N=129). A total of 230 unique haplotypes were detected; the observed haplotype diversity and discrimination capacity were 0.998 and 0.858, respectively. The data presented confirm that Sardinian population is well differentiated from other Italian and Mediterranean populations. Although regarded as a homogeneous population, substantial heterogeneity was detected when Sardinian isolated villages or microareas were analyzed. Our results highlights the importance of building a Sardinia-own database, organized by small areas, as a powerful tool for both forensic applications and population genetics studies.

Frequency resolved optical gating characterization of sub-ps pulses from single-section InAs/InP quantum dash based mode-locked lasers.

Mode-locking of single-section Fabry-Pérot InAs/InP edge emitting quantum dash based lasers at 1.56 µm under continuous wave operation is studied by second-harmonic generation frequency resolved optical gating. Self-starting pulses of a width down to 374 fs can be observed after external chirp compensation using standard single-mode fiber (SMF-28). Pulse compression using different lengths of SMF-28 and pulse shape as well as phase dependence on bias conditions are investigated. Consistency with stepped-heterodyne technique for advanced pulse characterization is shown.

23 and 39 GHz low phase noise monosection InAs/InP (113)B quantum dots mode-locked lasers.

Here we report for the first time a passive mode-locking of single section Fabry-Perot (FP) lasers based on InAs quantum dots(QDs) grown on (113)B InP substrate. Devices under study are a 1 and 2 mm long laser diodes emitting around 1.58 µm. Self-starting pulses with repetition rates around 23 and 39 GHz and pulse widths down to 1.5 ps are observed after propagation through a suitable length of single-mode fiber for intracavity dispersion compensation. A RF spectral width as low as 20 kHz has been obtained leading to a low timing jitter RMS.

Genetic markers and explosive leg-muscle strength in elite Italian soccer players.

AIM: The aim of the present paper was to investigate the relationships between polymorphisms in ACTN3, ACE and BDKRB2 genes, soccer performance, and explosive leg-muscle strength in Italian soccer players. METHODS: We examined 42 top-level Italian soccer players (S) and 106 sedentary healthy Italians, as a control group (C). χ2 test was used to look for the difference in genotype distribution of ACTN3, ACE and BDKRB2 between groups. The data were evaluated by forward stepwise multiple regression analysis with the Squat Jump (SJ) and Counter Movement Jump (CMJ) as dependent variables, as well as competition level (CL), ACTN-3, ACE and BDKRB2 genotypes as independent variables. RESULTS: No significant difference was found between groups for ACE, ACTN-3 and BDKRB2 genotype distributions. Forward stepwise multiple regression analysis suggests a significant relationship between a) SJ vs. CL, ACE, and ACTN-3 and b) CMJ vs. CL. For SJ, the multivariate model combining genotypic data and competition level significantly predicted explosive leg-muscle strength in soccer players and variance explained by the function was 23.92%. CONCLUSION: An interaction of two polymorphisms (ACE and ACTN-3) might be able to discriminate quantitative traits crucial for the elite soccer performance, however the contribution of genetic factors to soccer performance is not so high.

Multiband wavelength demultiplexer based on digital planar holography for on-chip spectroscopy applications.

A novel type of multiband wavelength demultiplexer for on-chip spectroscopy applications is proposed, and first results of the device fabrication and characterization are reported. The devices are based on computer-designed digital planar holograms, which involve millions of lines specifically located and oriented in order to direct output light into designed focal channels according to the wavelength. Devices operate in four individual bandwidths within the visible range (477.2-478.0 nm, 528.8-529.9 nm, 586.4-587.7 nm, 628.9-630.4 nm) with 96 channels and spectral channel spacing down to 0.0375 nm/channel.

Analysis of a genetic isolate: the case of Carloforte (Italy).

We reviewed data collected during several studies concerning the genetic isolate of Carloforte (Sardinia, Italy) and analyzed new data on Y-chromosome markers. Carloforte is also a language island, where people still speak Tabarchino, an archaic form of Ligurian dialect. Demographic data indicate that, in the early years of its history, the Carloforte population was characterized by a high degree of endogamy and consanguinity rates that started to decrease around 1850, when marriages with Sardinian people began to occur more frequently. Cultural factors, mainly language, account for the high endogamy. Genetic data from classical markers, mtDNA, and Y-chromosome markers confirmed the strong isolation of the Carloforte population, which appears significantly different from the neighboring population of Sardinia. Analysis of mtDNA emphasizes the crucial aspect of sampling strategy-two different samplings of the same population (one based on founder surnames; the other based on grandparents' criterion) gave different results. Founder surnames sampling is not affected by recent events, and therefore it better describes the ancestral population, whereas, grandparents' criterion sampling gives a picture of the present population, shaped by more recent events, such as migration and gene flow. This review further supports the notion that a comprehensive approach, including a detailed knowledge of the history of the population and the collection of different samplings, is essential in anthropology for reconstructing past and recent events that contributed to establishing the present genetic structure of the population. Likewise, it is essential in medical genetics to identify genes involved in complex diseases. An ideal scenario is offered by a genetic isolate with a recent, and well-documented, history, such as Carloforte, that can ba a paradigm for this type of investigation.

Prevalence and trend of overweight and obesity among Sardinian conscripts (Italy) of 1969 and 1998.

This study evaluated the prevalence of overweight and obesity in the male Sardinian population (Italy), and verifies that it has increased over the last 30 years. Data were collected during 2003-2004 from military registers in the Archive of the Military District of Cagliari for the years 1969 and 1998. A total of 22,345 forms were analysed from all Sardinia. The conscripts were classified on the basis of their place of residence and socioeconomic status. The overall prevalence of overweight and obesity in Sardinia were 4.33% and 0.55%, respectively, for the conscripts of 1969 and 9.8% and 3% for 1998. Olbia-Tempio (northern Sardinia) was the province with the highest incidence of overweight and obesity in 1969, and Nuoro (central Sardinia) had the highest incidence in 1998. Distribution of body mass index, overweight and obesity across the island showed a statistically significant heterogeneity that strongly decreased from 1969 to 1998. Among the conscripts of 1969, the incidence of overweight and obesity were higher in rural than in urban regions. An opposite trend was observed for the 1998 prevalence, it being more frequent in urban than rural regions. Comparison with other Italian regions was made. The percentages of overweight and obese individuals in Sardinia have markedly increased during the last 30 years, but their low incidence with respect to other Italian populations could be explained by the genetic peculiarity of the island. The change in the internal distribution of obesity clearly reflects socioeconomic changes.

High frequencies of short alleles of NOS1 (CA)n polymorphism in beta(0)39 carriers from Corsica Island (France).

In this work we investigated about the presence of a correlation between a (CA)n repeat located in exon 29 of NOS1 gene and the beta-thalassemia trait in Corsica Island (France). We genotyped a sample of individuals with beta-thalassemia minor (N=110) and an ethnically matched control (N=113) from Balagna, a region of Corsica Island (France). Results highlighted the high frequencies of allele with 16 and 17 repeats in the thalassemic sample. From these results we suggest, that high frequencies of alleles with 16 and 17 repeats, could be a consequence of past malarial endemicity.

24 bp duplication of CHIT1 gene is not correlated with coronary artery disease in Corsica Island (France).

In this study we analyzed allele and genotype distributions of 24 bp duplication of the CHIT1 gene in a sample of patients (N=300) with coronary artery disease (CAD) and in a control group (N=300) from central Corsica (France), with the aim to investigate the possible association between CHIT1 genotypes and CAD in Corsican population. Serum chitotriosidase activity is increased in individuals experiencing an ischemic stroke of atherothrombotic etiology and in subjects with ischemic heart disease. Our results suggest that 24 bp duplication of CHIT1 gene is not correlated with CAD in Corsican population, according to a previous study carried out on a Spanish sample. Gene prevalence and perhaps gene-disease associations vary according to ethnicity. Further studies, based on different ethnic groups, could be suitable to determine the implication of this polymorphism with respect to CAD.

Cholesteryl ester transfer protein gene polymorphisms are associated with coronary artery disease in Corsican population (France).

The aim of the present study was to investigate the association between coronary artery disease (CAD) and Cholesterol Ester Transfer Protein (CETP) (gaaa)n polymorphisms of the CETP gene in Central Corsica island (France). The study group was composed by 300 unrelated Corsican patients with angiographically documented CAD and 300 unrelated healthy blood donors. Significant differences were observed in the distribution of CETP (gaaa)n alleles between the groups under study (p=0.03; chi(2): 16.8, df: 8). The occurrence of a long allele (408 bp) was higher in cases (12%) than in control group (2%), showing a 6.75-fold increased risk for CAD in Corsica patients (p=0.0055; OR=6.750; 95% CIs=1.47-31.00). The correlation of this polymorphism with the lipid profile (cholesterol, low density lipoprotein-cholesterol, high density lipoprotein-cholesterol and triglycerides) in the patients group was determined. There was a significant association of the long alleles of CETP (gaaa)n with HDL-C levels. In the patient and in the control groups the LL genotypes had lower HDL-C compared with the SS and SL genotypes (p<0.0001). In summary our results suggest that the genetic variation at the CETP gene may play an important role in determining CAD in Corsican population.

Beta-globin cluster haplotypes in normal individuals and beta(0)39-thalassemia carriers from Sardinia, Italy.

Seven polymorphic sites in the beta-globin cluster in association with specific thalassemia mutations were analyzed in a sample from Sardinia, Italy. In order to verify previous works carried out on normal samples (beta(A)/beta(A)) and family studies on beta-thalassemia homozygotes individuals, the haplotype frequencies in both normal individuals (beta(A)/beta(A)) and beta(0)39-thalassemia carriers (beta(A)/beta0) were studied. In our work chromosomes carrying beta(0)39 mutation are characterized by a prevalence of haplotype II (- + + - + + +) (52%) relative to haplotype I (+- - - - + +) (29%), in contrast, among chromosomes with beta(A) the frequency of haplotype I is much greater than that of haplotype II. These data confirm what was found by other authors. Nevertheless, our results disagree with those of previous studies of Sardinians, both in frequencies values and in the numbers of haplotypes identified. Population analysis performed with samples carrying the beta-thalassemic mutation highlighted the peculiarity of Sardinians with respect to other Mediterranean populations. The Corsican population is most similar to the Sardinian population, confirming previous analyses performed with both classical markers and mitochondrial and genomic DNA.

Prevalence of genetic risk factors for coronary artery disease in Corsica island (France).

We have investigated the frequencies of seven markers among 100 unrelated individuals with angiographically documented CAD (Coronary Artery Disease) and among 100 unrelated healthy blood donors in the central region of Corsica island (France). The seven polymorphisms analyzed were chosen from six candidate genes involved in (1) Renin-Angiotensin system: Angiotensin converting enzyme (ACE I/D), (2) Lipid metabolism: Cholesterol Ester Transfer Protein gene (CETP TAQ1B), (3) Platelet aggregation: alpha and beta subunits of the platelet GpIIb/GpIIIa integrin complex (GpIIb HPA3 and GpIIIa Pl(A1/A2)), (4) Coagulation fibrinolysis: Plasminogen Activator Tissue (PLAT TPA25 I/D) and Methylenetetrahydrofolate Reductase (MTHFR C677T and A1298C). The samples were genotyped using the polymerase chain reaction followed by restriction enzyme analysis for the RFLPs. No significant difference in allele frequencies between patient and control groups was observed. The occurrence of the MTHFR T677T genotype and of the T677T/A1298A compound genotype is higher in cases (20%) than in the controls (4%). Odds ratio seems to indicate that individuals with the MTHFR T677T genotype and the T677T/A1298A compound genotype had a 6-fold increased risk for developing CAD (ORs = 6; 95% CIs = 1.96-18.28) suggesting a possible association of MTHFR C677T with the risk of CAD in Corsican population.