1,721,017 research outputs found
Impact of molecular diagnostics in an asymptomatic amateur athlete found to be affected by hypertrophic cardiomyopathy
No full textThe prevention of sudden cardiac death in asymptomatic athletes, unknowingly suffering from cardiac disease, is an important objective that involves many areas of the medical profession and of the healthcare systems in general. Here we report the case of an asymptomatic amateur athlete, who, in the setting of pre-participation screening to obtain clearance to take part in competitive sporting event, underwent cardiac clinical and instrumental examinations to ensure the absence of cardiomyopathy. Electrocardiography revealed mild repolarization abnormalities and echocardiography showed borderline septal wall thickness. Anamnestic and instrumental data suggested an underlying genetic alteration. Molecular analysis revealed double heterozygosity for mutations in the TNNT2 (c.832C>T; p.R278C) and MYBPC3 (c.2689_2690ins19nt; p.G897AfsX159) genes. Molecular analysis led to an accurate characterization of the cardiac alteration present in this athlete. This case report highlights that molecular analysis can reveal DNA alterations in asymptomatic athletes, which in many cases could cause sudden cardiac death. This and previous cases show that Clinical Molecular Biology is now an essential addition to the clinical and instrumental approach to the evaluation of cardiac wellness, which could otherwise remain obscure
Differences Between Afro-Caribbean and White Caucasian Olympic Athletes in Plasma Lipids Profile: A Cross-Sectional Single Center Study
No full textIntroduction: Ethnic and gender differences in plasma lipid composition have been widely reported among the general population, but there are scarce data on athletes. Aim: To assess ethnic and gender differences in lipid profile across a large cohort of Olympic athletes practicing different sport disciplines METHODS: We enrolled 1165 Olympic athletes divided into power, endurance, and mixed disciplines according to European Society of Cardiology classification. Sixty-two (5.3%) were Afro-Caribbean. Body composition and fat mass percentage were measured. Blood samples were collected and lipid profile was investigated. Results: Compared to Caucasians, Afro-Caribbeans had better lipid profile characterized by lower LDL (90 ± 25 mg/dL vs. 97.1 ± 26.2 mg/dL, p = 0.032) lower LDL/HDL ratio (1.39 ± 0.5 vs. 1.58 ± 0.6, p = 0.012), lower non-HDL-cholesterol (102.5 ± 27.4 mg/dL vs. 111.5 ± 28.5 mg/dL, p = 0.015) and lower TC/HDL (2.59 ± 0.6 vs. 2.82 ± 0.7, p = 0.010). Female Afro-Caribbeans showed lower TG/HDL ratio (p = 0.045) and TC/HDL ratio (p = 0.028), due to higher HDL (p = 0.005) compared to male Afro-Caribbeans. In Caucasian athletes, females showed even more evident differences with lower TC, LDL, and higher HDL with subsequent lower ratios compared to men. Moreover, endurance Caucasian athletes had lower LDL (p = 0.003) and TG (p = 0.017) plasmatic levels and higher HDL levels compared to non-endurance Caucasian athletes (p< 0.0001) CONCLUSIONS: Ethnicity and gender have a significant influence on plasmatic lipid balance in elite athletes and Afro-Caribbeans have favorable lipid profiles compared to Caucasians. Moreover, endurance sports, particularly in Caucasian athletes, are associated with better lipid profile compared to other type of sports
Duration of in vitro maturation of recipient oocytes affects blastocyst development of cloned porcine embryos
No full textThis study investigated the effects of different incubation periods for oocyte maturation and contact inhibition of donor cells as well as different osmolarities for storage of recipient oocytes on fusion rates, cleavage rates, and blastocyst yields of porcine somatic nuclear transfer (SCNT) derived embryos. In addition, the in vivo developmental potential of cloned embryos derived from the most promising SCNT protocol was tested by transfer to recipient gilts. Storage of in vitro-matured oocytes for 7.5 h in calcium-free TL-HEPES medium at 295 or 320 mOsmol prior to activation yielded significantly (p < 0.05) higher parthenogenetic blastocyst rates compared to storage in TL-HEPES with an osmolarity of 270 mOsmol (24.4 +/- 3.0% and 26.2 +/- 4.3% vs. 18.3 +/- 6.4%, respectively, mean +/- SD) and improved the visibility of the polar body. Electrical fusion of fibroblasts to enucleated oocytes matured for 38, 40, or 42 h resulted in similar fusion and cleavage rates (74.8-84.4%). However, nuclear transfer with oocytes matured for 40 h in vitro yielded significantly higher (p < 0.05) development to the blastocyst stage after 7 days of culture (14.7 +/- 1.7%) than with oocytes matured for 38 h (9.5 +/- 2.1%) or 42 h (5.1 +/- 2.1%). Contact inhibition for 24, 48, or 72 h significantly (p < 0.05) increased the proportion of cells at G0/G1 compared with cycling fibroblasts. However, duration of contact inhibition of the donor cells for either 24, 48, or 72 h had no effect on blastocyst rates of SCNT embryos. Four gilts received an average of 150 SCNT embryos (range 138-161) reconstructed with oocytes matured for 40 h; two of these became pregnant; one of them went to term and farrowed four piglets on day 115 of pregnancy. Microsatellite analysis confirmed that the clones were genetically identical with the donor cells. These results show that changes of the in vitro maturation protocol may affect in vitro development of reconstructed porcine embryos, while duration of the contact inhibition period plays a minor role for the success of porcine SCNT. The effects on in vivo development are yet to be determined
Cardiovascular risk profile in Olympic athletes: An unexpected and underestimated risk scenario
No full textBackground: Prevalence of cardiovascular (CV) risk factors has been poorly explored in subjects regularly engaged in high-intensity exercise programmes. Our aim was, therefore, to assess the prevalence and distribution of CV risk factors in a large population of competitive athletes, to derive the characteristics of athlete's lifestyle associated with the best CV profile. Methods: 1058 Olympic athletes (656 males, 402 females), consecutively evaluated in the period 2014-2016, represent the study population. Prevalence and distribution of CV risk factors was assessed, in relation to age, body size and sport. Findings: Dyslipidemia was the most common risk (32%), followed by increased waist circumference (25%), positive family history (18%), smoking habit (8%), hypertension (3.8%) and hyperglycaemia (0.3%). Large subset of athletes (418, 40%) had none or 1 (414, 39%) risk factor, while only a few (39, 3.7%) had 3/4 CV risk factors. The group without risks largely comprised endurance athletes (34%). Ageing was associated with higher total and low-density lipoprotein cholesterol, triglycerides (p<0.001) and glycaemia (p=0.002) and lower high-density lipoprotein cholesterol. On multivariate logistic regression analysis, age, BMI and body fat were identified as independent predictors of increased CV risk. Interpretation: Dyslipidemia and increased waist circumference are common in elite athletes (32% and 25%, respectively). A large proportion (40%) of athletes, mostly endurance, are totally free from risk factors. Only a minority (3%) presents a high CV risk, largely expression of lifestyle and related to modifiable CV risk factors
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Full text linkWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
- …
