Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants

Mitochondria both produce the energy of the cell as ATP via respiration and regulate cellular metabolism. Accordingly, any deletion or mutation in the mitochondrial DNA (mtDNA) may result in a disease. One of these diseases is Kearns Sayre syndrome (KSS), described for the first time in 1958, where different large-scale deletions of different sizes and at different positions have been reported in the mitochondrial genome of patients with similar clinical symptoms. In this study, sequences of the mitochondrial genome of three patients with clinic features of KSS were analyzed. Our results revealed the position, heteroplasmy percentage, size of deletions, and their haplogroups. Two patients contained deletions reported previously and one patient showed a new deletion not reported previously. These results display for the first time a systematic analysis of mtDNA variants in the whole mtDNA genome of patients with KSS to help to understand their association with the disease

Feasibility and Reliability of a Questionnaire to Assess the Mode, Frequency, Distance and Time of Commuting to and from School: The PACO Study

Active commuting to and from school has several health implications. Self-reporting is the most common assessment tool, but there is a high heterogeneity of questionnaires in the scientific literature. The purpose of this study was to analyse the feasibility and reliability of the Spanish “New Version of Mode and Frequency of Commuting To and From School” questionnaire in children and adolescents. A total of 635 children (5–12 years old) and 362 adolescents (12–18 years old) filled out the questionnaire twice (14 days apart). Feasibility was evaluated using an observational checklist. The test-retest reliability of the “New Version of Mode and Frequency of Commuting To and From School” questionnaire and the distance and time to school were examined using the kappa and weight kappa coefficient (κ). No misunderstanding of questions was reported. The time to complete the questionnaire was 15 ± 3.62 and 9 ± 2.26 min for children and adolescents, respectively. The questionnaire showed substantial and almost perfect kappa coefficients for the overall six items (k = 0.61–0.94) in children and adolescents. The “New Version of Mode and Frequency of Commuting To and From School” questionnaire is a feasible and reliable questionnaire in Spanish children and adolescents.Spanish Ministry of Economy, Industry and CompetitivenessEuropean Union (EU) DEP2016-75598-RUniversity of Granada, Plan Propio de Investigacion 2016, excellence actions: Units of ExcellenceUnit of Excellence on Exercise and Health (UCEES)Junta de AndaluciaConsejeria de Conocimiento, Investigacion y UniversidadesEuropean Union (EU) SOMM17/6107/UGREuropean Social Fund (ESF

Configuration Complexities of Hydrogenic Atoms

The Fisher-Shannon and Cramer-Rao information measures, and the LMC-like or shape complexity (i.e., the disequilibrium times the Shannon entropic power) of hydrogenic stationary states are investigated in both position and momentum spaces. First, it is shown that not only the Fisher information and the variance (then, the Cramer-Rao measure) but also the disequilibrium associated to the quantum-mechanical probability density can be explicitly expressed in terms of the three quantum numbers (n, l, m) of the corresponding state. Second, the three composite measures mentioned above are analytically, numerically and physically discussed for both ground and excited states. It is observed, in particular, that these configuration complexities do not depend on the nuclear charge Z. Moreover, the Fisher-Shannon measure is shown to quadratically depend on the principal quantum number n. Finally, sharp upper bounds to the Fisher-Shannon measure and the shape complexity of a general hydrogenic orbital are given in terms of the quantum numbers.Comment: 22 pages, 7 figures, accepted i

Psychometric characteristics of a commuting-to-school behaviour questionnaire for families

The purposes of this study were: (a) to describe the patterns of modes of commuting to school (children) and to work (parents) separated by gender and age, (b) to validate the questions on children’s mode of commuting to and from school according to their parents, and (c) to analyse the reliability of a family questionnaire focused on commuting to school behaviours. A total of 611 parents (mean age: 43.28 ± 6.25 years old) from Granada (Spain) completed “Family commuting-to-school behaviour” questionnaire in two sessions separated by 14 days, (2016 and 2018). The validation between family and children’s questions was assessed using the Kappa and Spearman correlation coefficients, and the test–retest reliability within the family questions was assessed using the Kappa and the weighted Kappa. The children’s modes of commuting to school (mean age: 11.44 ± 2.77 years old) were mainly passive (57.7% to school) while parents’ modes of commuting to work were mainly active (71.6%). The validity of the mode of commuting was significant with high Kappa and Spearman coefficients. The test–retest reliability presented a good agreement for the mode of commuting to school in children, distance and time to school, and the mode of commuting to work in parents, while the questions on acceptable distance to walk or cycle to school showed a moderate to good agreement. The “Family commuting-to-school behaviour” questionnaire could be a useful tool to assess the mode of commuting of children, distance and time to school for researchers and practitioners

Evaluation of the antioxidant activity from bovine serum albumin protein fractions

Objective:  Evaluate the antioxidant activity of protein fractions obtained from (bovine serum albumin) BSA protein hydrolysates. Design / methodology / approach: Bioinformatics tools, such as the NCBI database, were used to search for primary sequences of BSA proteins. The methodology included a prediction of peptides with antioxidant activity through various bioinformatics servers. The antioxidant activity was determined by different methods. Statistical analysis was performed to evaluate possible significant differences using the Student Newman Keulls test for group comparison. Results: Through in silica hydrolysis the following peptides were found: valine-alanine-phenylalanine (VAF), lysine-tryptophan (KW), phenylalanine-tyrosine (FY), alanine-proline (AP), among others that may have antioxidant activity. The results showed that the fraction <1 kDa hydrolyzed with chymotrypsin, this fraction showed 84% copper chelation, 61% iron chelation, while 75% inhibition of the DPPH radical. In the case of the fraction <1 kDa hydrolyzed with pepsin, it only showed 16% iron chelation, while in the other methods no value was detected. Study limitations / implications: The enzyme used for enzymatic hydrolysis generates low degrees of hydrolysis and generates oligopeptide dipeptides that may not be as like some of the tested methods, in addition to the protein concentration in the fraction <1 kDa with pepsin it had very low values that could not be detected by some antioxidant methods. Findings / conclusions: The antioxidant activity of the <1 kDa fraction obtained with chymotrypsin showed greater antioxidant and chelating activity, compared to the <1 kDa fraction obtained with pepsin. However, at the concentration of 2% and 5% fluctuations are observed in both fractions, because probably the composition of amino acids that is present in both fractions determines the activity in each of the tested method

Black hole thermodynamical entropy

As early as 1902, Gibbs pointed out that systems whose partition function diverges, e.g. gravitation, lie outside the validity of the Boltzmann-Gibbs (BG) theory. Consistently, since the pioneering Bekenstein-Hawking results, physically meaningful evidence (e.g., the holographic principle) has accumulated that the BG entropy $S_{BG}$ of a $(3+1)$ black hole is proportional to its area $L^2$ ($L$ being a characteristic linear length), and not to its volume $L^3$. Similarly it exists the \emph{area law}, so named because, for a wide class of strongly quantum-entangled $d$-dimensional systems, $S_{BG}$ is proportional to $\ln L$ if $d=1$, and to $L^{d-1}$ if $d>1$, instead of being proportional to $L^d$ ($d \ge 1$). These results violate the extensivity of the thermodynamical entropy of a $d$-dimensional system. This thermodynamical inconsistency disappears if we realize that the thermodynamical entropy of such nonstandard systems is \emph{not} to be identified with the BG {\it additive} entropy but with appropriately generalized {\it nonadditive} entropies. Indeed, the celebrated usefulness of the BG entropy is founded on hypothesis such as relatively weak probabilistic correlations (and their connections to ergodicity, which by no means can be assumed as a general rule of nature). Here we introduce a generalized entropy which, for the Schwarzschild black hole and the area law, can solve the thermodynamic puzzle.Comment: 7 pages, 2 figures. Accepted for publication in EPJ

Guillain-Barré syndrome following the 2009 pandemic monovalent and seasonal trivalent influenza vaccination campaigns in Spain from 2009 to 2011: Outcomes from active surveillance by a neurologist network, and records from a country-wide hospital discharge database

Background: Studies have shown a slight excess risk in Guillain-Barré syndrome (GBS) incidence associated with A(H1N1)pdm09 vaccination campaign and seasonal trivalent influenza vaccine immunisations in 2009-2010. We aimed to assess the incidence of GBS as a potential adverse effect of A(H1N1)pdm09 vaccination. Methods: A neurologist-led network, active at the neurology departments of ten general hospitals serving an adult population of 4.68 million, conducted GBS surveillance in Spain in 2009-2011. The network, established in 1996, carried out a retrospective and a prospective study to estimate monthly alarm thresholds in GBS incidence and tested them in 1998-1999 in a pilot study. Such incidence thresholds additionally to observation of GBS cases with immunisation antecedent in the 42 days prior to clinical onset were taken as alarm signals for 2009-2011, since November 2009 onwards. For purpose of surveillance, in 2009 we updated both the available centres and the populations served by the network. We also did a retrospective countrywide review of hospital-discharged patients having ICD-9-CM code 357.0 (acute infective polyneuritis) as their principal diagnosis from January 2009 to December 2011. Results: Among 141 confirmed of 148 notified cases of GBS or Miller-Fisher syndrome, Brighton 1-2 criteria in 96 %, not a single patient was identified with clinical onset during the 42-day time interval following A(H1N1)pdm09 vaccination. In contrast, seven cases were seen during a similar period after seasonal campaigns. Monthly incidence figures did not, however, exceed the upper 95 % CI limit of expected incidence. A retrospective countrywide review of the registry of hospital-discharged patients having ICD-9-CM code 357.0 (acute infective polyneuritis) as their principal diagnosis did not suggest higher admission rates in critical months across the period December 2009-February 2010. Conclusions: Despite limited power and underlying reporting bias in 2010-2011, an increase in GBS incidence over background GBS, associated with A(H1N1)pdm09 monovalent or trivalent influenza immunisations, appears unlikely

Plane-symmetric inhomogeneous magnetized viscous fluid universe with a variable Λ\Lambda

The behavior of magnetic field in plane symmetric inhomogeneous cosmological models for bulk viscous distribution is investigated. The coefficient of bulk viscosity is assumed to be a power function of mass density $(\xi =\xi_{0}\rho^{n})$. The values of cosmological constant for these models are found to be small and positive which are supported by the results from recent supernovae Ia observations. Some physical and geometric aspects of the models are also discussed.Comment: 18 pages, LaTex, no figur

Health professions and risk of sporadic Creutzfeldt- Jakob disease, 1965 to 2010

In 2009, a pathologist with sporadic Creutzfeldt- Jakob Disease (sCJD) was reported to the Spanish registry. This case prompted a request for information on health-related occupation in sCJD cases from countries participating in the European Creutzfeldt Jakob Disease Surveillance network (EuroCJD). Responses from registries in 21 countries revealed that of 8,321 registered cases, 65 physicians or dentists, two of whom were pathologists, and another 137 healthcare workers had been identified with sCJD. Five countries reported 15 physicians and 68 other health professionals among 2,968 controls or non-cases, suggesting no relative excess of sCJD among healthcare professionals. A literature review revealed: (i) 12 case or small case-series reports of 66 health professionals with sCJD, and (ii) five analytical studies on health-related occupation and sCJD, where statistically significant findings were solely observed for persons working at physicians' offices (odds ratio: 4.6 (95 CI: 1.2-17.6)). We conclude that a wide spectrum of medical specialities and health professions are represented in sCJD cases and that the data analysed do not support any overall increased occupational risk for health professionals. Nevertheless, there may be a specific risk in some professions associated with direct contact with high human-infectivity tissue

Global Search for New Physics with 2.0/fb at CDF

Data collected in Run II of the Fermilab Tevatron are searched for indications of new electroweak-scale physics. Rather than focusing on particular new physics scenarios, CDF data are analyzed for discrepancies with the standard model prediction. A model-independent approach (Vista) considers gross features of the data, and is sensitive to new large cross-section physics. Further sensitivity to new physics is provided by two additional algorithms: a Bump Hunter searches invariant mass distributions for "bumps" that could indicate resonant production of new particles; and the Sleuth procedure scans for data excesses at large summed transverse momentum. This combined global search for new physics in 2.0/fb of ppbar collisions at sqrt(s)=1.96 TeV reveals no indication of physics beyond the standard model.Comment: 8 pages, 7 figures. Final version which appeared in Physical Review D Rapid Communication