The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.     

Global Optimization in Any Minkowski Metric: A Permutation-Translation Simulated Annealing Algorithm for Multidimensional Scaling

It is well known that considering a non-Euclidean Minkowski metric in Multidimensional Scaling, either for the distance model or for the loss function, increases the computational problem of local minima considerably. In this paper, we propose an algorithm in which both the loss function and the composition rule can be considered in any Minkowski metric, using a multivariate randomly alternating Simulated Annealing procedure with permutation and translation phases. The algorithm has been implemented in Fortran and tested over classical and simulated data matrices with sizes up to 200 objects. A study has been carried out with some of the common loss functions to determine the most suitable values for the main parameters. The experimental results confirm the theoretical expectation that Simulated Annealing is a suitable strategy to deal by itself with the optimization problems in Multidimensional Scaling, in particular for City-Block, Euclidean and Infinity metrics.     

Effect of heat treatment on the ATPase activity of various sarcoplasmic reticulum preparations.

Ca2+-stimulated ATPase activity of sarcoplasmic reticulum (SR) preparations is activated after a short period of preincubation at temperatures between 40 and 45 degrees C, but for temperatures higher than 48 degrees C pronounced denaturation is observed. Heat denaturation is decreased if Mg2+ or K+ are present during heat treatment.     

Effect of X-537A on the phosphorylated protein in sarcoplasmic reticulum vesicles

Summary The effect of the antibiotic X-537A on the phosphorylated ATPase (EP) was investigated. The results show that X-537A depresses the level of EP which is dependent on the Ca²⁺ gradient, while the Ca²⁺-independent EP is not affected. Acknowledgments. This work was supported by grants from the Instituto de Alta Cultura of the Portuguese Ministry of Education (No. CB/2) and the Calouste Gulbenkian Foundation.     

A carbon- and oxygen-isotope record of recent environ- mental change from Qinghai Lake, NE Tibetan Plateau

An understanding of natural climatic variability is essential for evaluating anthropogenic impacts on recent and future climate[1—3]. Due to the lack of lengthy instrumental records, such an understanding must be gained from natural archives of climate change. Palaeolimnological indicators of past lake levels may provide a sensitive record of changes in effective precipitation in closed basins. This approach is particularly relevant on the Tibetan Plateau, where instrumental records are very…     

A new species and the phylogeny of the South American genus Gromphas Brullé, 1837 (Coleoptera: Scarabaeidae: Scarabaeinae: Phanaeini)

Gromphas jardim Cupello & Vaz-de-Mello sp. nov. is described from Bolivia and Central Brazil and is endemic to the biogeographic province of Rondônia. It resembles Gromphas amazonica and Gromphas inermis, but is distinguished primarily by the pattern of pronotal granulation and the form of the apical tubercle of male protibiae, which is modified in a tapered spur. Based on 31 morphological characters, a phylogenetic analysis returned a single most parsimonious tree where Gromphas is monophyletic and has the following internal topology: ((G. aeruginosa + G. lemoinei) (G. dichroa (G. inermis (G. amazonica + G. jardim)))).     

Serotype-independent pneumococcal vaccines

Streptococcus pneumoniae remains an important cause of disease with high mortality and morbidity, especially in children and in the elderly. The widespread use of the polysaccharide conjugate vaccines in some countries has led to a significant decrease in invasive disease caused by vaccine serotypes, but an increase in disease caused by non-vaccine serotypes has impacted on the overall efficacy of these vaccines on pneumococcal disease. The obvious solution to overcome such shortcomings would be the development of new formulations that provide serotype-independent immunity. This review focuses on the most promising approaches, including protein antigens, whole cell pneumococcal vaccines, and recombinant bacteria expressing pneumococcal antigens. The protective capacity of these vaccine candidates against the different stages of pneumococcal infection, including colonization, mucosal disease, and invasive disease in animal models is reviewed. Some of the human trials that have already been performed or that are currently ongoing are presented. Finally, the feasibility and the possible shortcomings of these candidates in relation to an ideal vaccine against pneumococcal infections are discussed.     

Not every drought is bad: quantifying reproductive effort in the harlequin frog Atelopus laetissimus (Anura: Bufonidae)

Atelopus laetissimus is an endemic and threatened harlequin frog from the high mountain forests of Sierra Nevada de Santa Marta, Colombia. Knowledge of its reproductive biology is essential for understanding the intraspecific interactions that can help the conservation of Atelopus species. We quantified the energy, measured in body weight, invested by males and females of A. laetissimus for reproduction, and how this energetic investment is related to the survival of individuals and rainfall conditions in habitats during two years (2014 and 2015). Our results show plasticity in terms of reproductive phenology linked to rainfall with short- and long-duration breeding strategies. The first year of this study, 2014, had a precipitation level in accordance with the annual averages at the area. During this time frogs exhibit a short breeding period. Contrary to 2014, 2015 was a year with little precipitation, below the annual averages, which probably facilitated the females’ quick spawning in the creeks and a consequent reduction in the duration of amplexus and low breeding efforts by males. This, in turn, was related to a long breeding period that favors the survival and reproduction of males during the entire year. In 2014 we found a decrease of 25% to 30% body weight of potentially reproductive males, which may be attributed to a prolonged duration of amplectant events.