Effects of Shading and Rhizome Isolation on Soluble Carbohydrate Levels in Blades and Rhizomes of the Seagrass Syringodium filiforme

The effects of severe shading on soluble carbohydrate content of blades and rhizomes of Syringodium filiforme growing in the Indian River Lagoon, Florida, were investigated. We used plants that were connected to unshaded neighbors and plants that were isolated from neighbors by severing their rhizome connections. Before shading, mean soluble carbohydrate levels ranged from 29.2 to 26.5% dry weight (dw) in the rhizomes and from 19.5 to 18.4% dw in the blades. Both shading and isolation contributed to a significant decline in soluble carbohydrate levels of blades and rhizomes, with shading eliciting the greater response. However, after 40 days, shaded-connected plants appeared to maintain more stable carbohydrate levels than shaded isolated ones

Performance evaluation of deleteriousness prediction methods for intronic SNVs in next generation sequences

Introduction: Alterations in splicing sites (ss) are estimated to explain approximately 10% of human disease causal variants. Mutations outside the ss but affecting ?regulatory elements? can be up to 25%. Accurate deleteriousness prediction for intronic variants is crucial for diagnostic purposes. Many deleteriousness prediction methods have been developed, but their relative values are still unclear in practical applications. We comprehensively evaluated the predictive performance of two complementary deleteriousness-scoring methods using information from real patients. Material and Methods: We selected the dbscSNV (both ADA and RF scores) and SPIDEX algorithms, that study variants in splicing consensus regions or in regulatory regions respectively. The tools, either alone or in combination, were tested on 29294 gene intronic SNVs that have previously been characterised by ClinVar as either ?pathogenic? (430) or ?benign? (28864). The sensitivity, specificity and positive and negative predictive values were calculated. Moreover, we applied the algorithms to WES data from undiagnosed patients, and we analysed the mRNA sequence from genes that fitted the patient?s phenotype. Results: The highest sensitivity corresponds to dbscSNV with 96.55% while the best specificity is for SPIDEX with 95.78%. When considering the 3 scores (SPIDEX, dbscSNV ADA and RF Score), the sensitivity and specificity values were 60.7% and 94.6%. The Positive and Negative Predictive Value were 14.45% and 99.39%. The results for 20 undiagnosed cases are presented. Conclusions: Besides the low positive predictive value, the combination of both algorithms leads less than 1% of false negatives, so their routine use can be recommended for diagnostic purposes

Peculiarities in the electrical and magnetic properties of cobalt perovskites Ln1−xMxCoO3 (Ln3+: La3+, M2+: Ca2+, Sr2+, Ba2+; Ln3+: Nd3+, M2+: Sr2+)

This is the accepted manuscript of the following article: Señarís-Rodríguez, M. et al. (1999). Peculiarities in the electrical and magnetic properties of cobalt perovskites Ln1−xMxCoO3 (Ln3+: La3+, M2+: Ca2+, Sr2+, Ba2+; Ln3+: Nd3+, M2+: Sr2+). International Journal Of Inorganic Materials, 1(3-4), 281-287. doi: 10.1016/s1466-6049(99)00042-2We refer here to the electrical and magnetic properties of the Ln1−xMxCoO3 systems (Ln3+: La3+, M2+: Ca2+, Sr2+, Ba2+; Ln3+: Nd3+, M2+: Sr2+), paying special attention to those ferromagnetic compounds that display M–I transitions as temperature rises: La1−xMxCoO3 (M2+: Ca2+, Sr2+, Ba2+) in the compositional interval x=0.2–0.3, and Nd1−xSrxCoO3, with x=0.40. The magneto-transport properties of such materials are peculiar and interesting: they show diodic behavior and large relaxation effects — these latter being specially important in the Nd compound — they display magnetoresistive effects specially at the M–I transition temperatures, and they age with time. All these results are discussed on the basis of the inhomogeneous electronic structure of these doped cobalt perovskites and taking into account the influence of the lanthanide ion on their magnetic and electrical propertiesWe thank the Spanish DGICYT for financial support under project MAT98-0416-C03-02S

Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases

North American wetlands and mosquito control

© The Author(s), 2012. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in International Journal of Environmental Research and Public Health 9 (2012): 4537-4605, doi:10.3390/ijerph9124537.Wetlands are valuable habitats that provide important social, economic, and ecological services such as flood control, water quality improvement, carbon sequestration, pollutant removal, and primary/secondary production export to terrestrial and aquatic food chains. There is disagreement about the need for mosquito control in wetlands and about the techniques utilized for mosquito abatement and their impacts upon wetlands ecosystems. Mosquito control in wetlands is a complex issue influenced by numerous factors, including many hard to quantify elements such as human perceptions, cultural predispositions, and political climate. In spite of considerable progress during the last decades, habitat protection and environmentally sound habitat management still remain inextricably tied to politics and economics. Furthermore, the connections are often complex, and occur at several levels, ranging from local businesses and politicians, to national governments and multinational institutions. Education is the key to lasting wetlands conservation. Integrated mosquito abatement strategies incorporate many approaches and practicable options, as described herein, and need to be well-defined, effective, and ecologically and economically sound for the wetland type and for the mosquito species of concern. The approach will certainly differ in response to disease outbreaks caused by mosquito-vectored pathogens versus quality of life issues caused by nuisance-biting mosquitoes. In this contribution, we provide an overview of the ecological setting and context for mosquito control in wetlands, present pertinent information on wetlands mosquitoes, review the mosquito abatement options available for current wetlands managers and mosquito control professionals, and outline some necessary considerations when devising mosquito control strategies. Although the emphasis is on North American wetlands, most of the material is applicable to wetlands everywhere.Publication of this article was funded in part by the University of Florida Open Access Publishing Fund

Longitudinal analysis on parasite diversity in honeybee colonies: new taxa, high frequency of mixed infections and seasonal patterns of variation

To evaluate the influence that parasites have on the losses of Apis mellifera it is essential to monitor their presence in the colonies over time. Here we analysed the occurrence of nosematids, trypanosomatids and neogregarines in five homogeneous colonies for up to 21 months until they collapsed. The study, which combined the use of several molecular markers with the application of a massive parallel sequencing technology, provided valuable insights into the epidemiology of these parasites: (I) it enabled the detection of parasite species rarely reported in honeybees (Nosema thomsoni, Crithidia bombi, Crithidia acanthocephali) and the identification of two novel taxa; (II) it revealed the existence of a high rate of co-infections (80% of the samples harboured more than one parasite species); (III) it uncovered an identical pattern of seasonal variation for nosematids and trypanosomatids, that was different from that of neogregarines; (IV) it showed that there were no significant differences in the fraction of positive samples, nor in the levels of species diversity, between interior and exterior bees; and (V) it unveiled that the variation in the number of parasite species was not directly linked with the failure of the colonies

A note on perturbation series in supersymmetric gauge theories

Exact results in supersymmetric Chern-Simons and N=2 Yang-Mills theories can be used to examine the quantum behavior of observables and the structure of the perturbative series. For the U(2) x U(2) ABJM model, we determine the asymptotic behavior of the perturbative series for the partition function and write it as a Borel transform. Similar results are obtained for N=2 SU(2) super Yang-Mills theory with four fundamental flavors and in N=2* super Yang-Mills theory, for the partition function as well as for the expectation values for Wilson loop and 't Hooft loop operators (in the 0 and 1 instanton sectors). In all examples, one has an alternate perturbation series where the coefficient of the nth term increases as n!, and the perturbation series are Borel summable. We also calculate the expectation value for a Wilson loop operator in the N=2* SU(N) theory at large N in different regimes of the 't Hooft gauge coupling and mass parameter. For large masses, the calculation reproduces the running gauge coupling for the pure N=2 SYM theory.Comment: 28 pages. V2: minor additions and reference adde

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

BACKGROUND: The use of next-generation sequencing enables a rapid analysis of many genes associated with sudden cardiac death in diseases like Brugada Syndrome. Genetic variation is identified and associated with 30-35% of cases of Brugada Syndrome, with nearly 20-25% attributable to variants in SCN5A, meaning many cases remain undiagnosed genetically. To evaluate the role of genetic variants in arrhythmogenic diseases and the utility of next-generation sequencing, we applied this technology to resequence 28 main genes associated with arrhythmogenic disorders. MATERIALS AND METHODS: A cohort of 45 clinically diagnosed Brugada Syndrome patients classified as SCN5A-negative was analyzed using next generation sequencing. Twenty-eight genes were resequenced: AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, and TMEM43. A total of 85 clinically evaluated relatives were also genetically analyzed to ascertain familial segregation. RESULTS AND DISCUSSION: Twenty-two patients carried 30 rare genetic variants in 12 genes, only 4 of which were previously associated with Brugada Syndrome. Neither insertion/deletion nor copy number variation were detected. We identified genetic variants in novel candidate genes potentially associated to Brugada Syndrome. These include: 4 genetic variations in AKAP9 including a de novo genetic variation in 3 positive cases; 5 genetic variations in ANK2 detected in 4 cases; variations in KCNJ2 together with CASQ2 in 1 case; genetic variations in RYR2, including a de novo genetic variation and desmosomal proteins encoding genes including DSG2, DSP and JUP, detected in 3 of the cases. Larger gene panels or whole exome sequencing should be considered to identify novel genes associated to Brugada Syndrome. However, application of approaches such as whole exome sequencing would difficult the interpretation for clinical purposes due to the large amount of data generated. The identification of these genetic variants opens new perspectives on the implications of genetic background in the arrhythmogenic substrate for research purposes. CONCLUSIONS: As a paradigm for other arrhythmogenic diseases and for unexplained sudden death, our data show that clinical genetic diagnosis is justified in a family perspective for confirmation of genetic causality. In the era of personalized medicine using high-throughput tools, clinical decision-making is increasingly complex

Frequency of use and preferences for information and communication technologies in patients with sleep apnea: A multicenter, multinational, observational cross-sectional survey study

Background: Obstructive sleep apnea (OSA) is a condition characterized by repeated episodes of partial or complete obstruction of the upper airway during sleep. An accessible method to facilitate self-management education is through information and communication technologies (ICTs). Purpose: To assess the frequency of and preferences for ICT use in patients with sleep apnea. Methods: A multicenter, multinational, observational cross-sectional survey study was conducted between 2018 and 2019 in sleep units in different countries of Latin America, including patients of both genders older than 18 years with a diagnosis of sleep apnea. Participants were asked to complete 20 questions in a self-administered survey about the frequency of use of ICTs and their preferences for receiving disease-related information. Results: A total of 435 patients participated in the study, with a mean age of 59.1 ± 14.0; 62.5% (n = 272) were males. Most patients had access to cellphones (92.4%, n = 402), smartphone (83.0%, n = 361) and an internet connection (82.3%, n = 358). One-to-one ICTs were regarded as the most frequently used ICT type, as 75.4% (n = 328) of participants reported using them daily (χ2(4) = 848.207, p =.000). With respect to categories of interest, one-to-one ICTs were also the best rated ICT type to receive (59.1%, n = 257; χ2(2) = 137.710, p =.000) and ask physicians (57.0%, n = 248; χ2(2) = 129.145, p =.000) information about OSA. Finally, older adults and those with lower educational levels were found to be less likely to use and be interested in ICTs. Conclusion: Most patients have access to different ICTs and often use them to seek and receive medical information. The preferred ICTs include those in the one-to-one category (WhatsApp, email) and the one-to-many category (web browsers) for general health and OSA-related informatio