The potentially toxic diatom Pseudo-nitzschia H. Peragallo in the Parana and Santa Catarina States, Southern Brazil

A taxonomic survey of the diatom Pseudo-nitzschia H. Peragallo was carried out in the Parana and Santa Catarina coasts, Southern Brazil. Samples were taken in various localities along the coastline using vertical hauls from the bottom to the surface. Electron microscopy revealed five species: the potentially toxic P. australis Frenguelli, P calliantha Lundholm, Moestrup & Has le, P multiseries (Has le) Has le and P pungens (Grunow ex Cleve) Has le (plus P pungens var. cingulata Villac), and the non-toxic P linea Lundholm, Has le & G. A. Fryxell. Southern Brazilian strains of P. calliantha and P multiseries have previously been shown to be toxic, raising concerns about a potential contamination of mussels and oysters being commercially grounded in the region. High morphological variability was observed in valve characters of P calliantha and P pungens, in some cases confirmed in the literature. In P calliantha there was a conspicuous differentiation in two morphotypes separated from each other by the width and the shape of the valve, and the density of the poroids. P linea has not previously been found in Brazilian waters, and P pungens var. cingulata is a new record in Western Atlantic waters. Future investigations using molecular techniques will elucidate whether the genetic variability corresponds to the morphological variation and unveil the possible existence of semicryptic species of Pseudo-nitzschia inhabiting the South Brazilian coast.

Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy

X-linked myotubular myopathy due to mutations in the MTM1 gene is classically characterized by a severe neonatal phenotype and a typical muscle biopsy presenting globular and centrally located nuclei in muscle myofibers. Recently, four patients with mild late-onset form have been described, a male with a hemizygous mutation and three females with heterozygous mutations in the MTM1 gene. The muscle biopsies were performed at 13-35 years of age and a new histological marker, the necklace fibers, was described. Here, we report two siblings with the pathogenic c.664 C > T mutation in the MTM1 gene, presenting a severe muscle weakness and respiratory impairment requiring ventilatory support since the first months of life until death, at the age of 36 months and 5 months. In the older brother the muscle biopsy, performed at the age of 30 months, showed almost 100% of necklace fibers, which were not present in the younger one submitted to muscle biopsy at 5 months of age. Our findings confirm the necklace fibers can be a histopathological finding of MTM1 myopathies, even in the severe neonatal form, and suggest that the necklace fibers appear or increase in number over time. (C) 2012 Elsevier B.V. All rights reserved.

Adalimumab induced-inflammatory myopathy in rheumatoid arthritis

The application of immunobiologics for the rheumatoid arthritis treatment may present as a rare complication the development of inflammatory myopathy. Until this moment, there have been described in literature only seven cases of inhibitors of tumor necrosis factor induced-myositis. In this paper, we report the case of the patient with 39 years-old with eight years of arthritis rheumatoid and that due to refractory to various immunosuppressive drugs, the adalimumab was introduced, and evolved to dermatomyositis status.

Electrochemical Reduction as a Powerful Tool to Highlight the Possible Formation of By-Products More Toxic Than Sudan III Dye

The present work describes the electrochemical reduction of the azo dye Sudan III in methanol/0.01 mol l(-1) Bu4NBF4 at applied potential of -1.2V, which promotes 98% discoloration of the commercial sample. The reduction products were analyzed by high performance liquid chromatography, after optimized conditions for 20 aromatic amines with carcinogenic potentiality. The harmful compounds such as: aniline, benzidine, o-toluidine, 2,6-dimethylaniline, 4,4'-oxydianiline, 4,4'-metileno-bis-2-methylaniline and 4-aminobiphenyl are formed after azo bond cleavage. The electrochemical reduction is compared with chemical reduction by using sodium thiosulfate. Our findings illustrates that commercial Sudan III under reductive condition can forms a number of products, which some are known active genotoxins. The technique could be used to mimic important redox reactions in human metabolism or environment, highlighting the possible formation of by-products more toxic than the original dyes.

TOWARDS NEW BOTANICAL PESTICIDES: THE TOXIC EFFECT OF Eremanthus goyazensis (Asteraceae) LEAVES ESSENTIAL OIL AGAINST Brevipalpus phoenicis (Acari: Tenuipalpidae)

This work reports the chemical characterization of Eremanthus goyzensis essential oil and its toxic effect over Brevipalpus phoenicis. The essential oil displayed a major composition of sesquiterpenes (61.87%) including trans-caryophillene (26.81%) and germacrene-D (13.31%). The fumigation test indicated a promising bioactivity over adult B. phoenicis individuals at 24 h (2.03 mu L/L of air) and 48 h (1.08 mu L/L of air) of exposition. A brief discussion of essential oils composition and their singular role on the toxic effect over B. phoenicis is provided here. Our results may contribute to a new and profitable use of a species of Brazilian flora on agribusiness.

Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy

Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice-site mutation. Genotype-phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot-Marie-Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue-specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT. Hum Mutat 33: 949-959, 2012. (C) 2012 Wiley Periodicals, Inc.

SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group

Background Recent studies reported the association between SLCO1B1 polymorphisms and the development of statin-induced myopathy. In the scenario of the Brazilian population, being one of the most heterogeneous in the world, the main aim here was to evaluate SLCO1B1 polymorphisms according to ethnic groups as an initial step for future pharmacogenetic studies. Methods One hundred and eighty-two Amerindians plus 1,032 subjects from the general urban population were included. Genotypes for the SLCO1B1 rs4149056 (c.T521C, p.V174A, exon 5) and SLCO1B1 rs4363657 (g.T89595C, intron 11) polymorphisms were detected by polymerase chain reaction followed by high resolution melting analysis with the Rotor Gene 6000® instrument. Results The frequencies of the SLCO1B1 rs4149056 and rs4363657 C variant allele were higher in Amerindians (28.3% and 26.1%) and were lower in African descent subjects (5.7% and 10.8%) compared with Mulatto (14.9% and 18.2%) and Caucasian descent (14.8% and 15.4%) ethnic groups (p < 0.001 and p < 0.001, respectively). Linkage disequilibrium analysis show that these variant alleles are in different linkage disequilibrium patterns depending on the ethnic origin. Conclusion Our findings indicate interethnic differences for the SLCO1B1 rs4149056 C risk allele frequency among Brazilians. These data will be useful in the development of effective programs for stratifying individuals regarding adherence, efficacy and choice of statin-type.

Towards new botanical pesticides: the toxic effect of Eremanthus goyazensis (Asteraceae) leaves essential oil against Brevipalpus phoenicis (Acari: Tenuipalpidae)

This work reports the chemical characterization of Eremanthusgoyzensis essential oil and its toxic effect over Brevipalpus phoenicis. The essential oil displayed a major composition of sesquiterpenes (61.87%) including trans-caryophillene (26.81%) and germacrene-D (13.31%). The fumigation test indicated a promising bioactivity over adult B. phoenicis individuals at 24 h (2.03 µL/L of air) and 48 h (1.08 µL/L of air) of exposition. A brief discussion of essential oils composition and their singular role on the toxic effect over B. phoenicis is provided here. Our results may contribute to a new and profitable use of a species of Brazilian flora on agribusiness.