Muscle Protein Alterations in LGMD21 Patients With Different Mutations in the Fukutin-related Protein Gene

Fukutin-related protein (FKRP) is a protein involved in the glycosylation of cell surface molecules. Pathogenic mutations in the FKRP gene cause both the more severe congenital muscular dystrophy Type 1C and the milder Limb-Girdle Type 21 form (LGMD21). Here we report muscle histological alterations and the analysis of 11 muscle proteins: dystrophin, four sarcoglycans, calpain 3, dysferlin, telethonin, collagen VI, alpha-DG, and alpha 2-laminin, in muscle biopsies from 13 unrelated LGMD21 patients with 10 different FKRP mutations. In all, a typical dystrophic pattern was observed. In eight patients, a high frequency of rimmed vacuoles was also found. A variable degree of alpha 2-laminin deficiency was detected in 12 patients through immunofluorescence analysis, and 10 patients presented a-DG deficiency on sarcolemmal membranes. Additionally, through Western blot analysis, deficiency of calpain 3 and dystrophin bands was found in four and two patients, respectively. All the remaining proteins showed a similar pattern to normal controls. These results suggest that, in our population of LGMD21 patients, different mutations in the FKRP gene are associated with several secondary muscle protein reductions, and the deficiencies of alpha 2-laminin and alpha-DG on sections are prevalent, independently of mutation type or clinical severity.

Animal models for genetic neuromuscular diseases

The neuromuscular disorders are a heterogeneous group of genetic diseases, caused by mutations in genes coding sarcolemmal, sarcomeric, and citosolic muscle proteins. Deficiencies or loss of function of these proteins leads to variable degree of progressive loss of motor ability. Several animal models, manifesting phenotypes observed in neuromuscular diseases, have been identified in nature or generated in laboratory. These models generally present physiological alterations observed in human patients and can be used as important tools for genetic, clinic, and histopathological studies. The mdx mouse is the most widely used animal model for Duchenne muscular dystrophy (DMD). Although it is a good genetic and biochemical model, presenting total deficiency of the protein dystrophin in the muscle, this mouse is not useful for clinical trials because of its very mild phenotype. The canine golden retriever MD model represents a more clinically similar model of DMD due to its larger size and significant muscle weakness. Autosomal recessive limb-girdle MD forms models include the SJL/J mice, which develop a spontaneous myopathy resulting from a mutation in the Dysferlin gene, being a model for LGMD2B. For the human sarcoglycanopahties (SG), the BIO14.6 hamster is the spontaneous animal model for delta-SG deficiency, whereas some canine models with deficiency of SG proteins have also been identified. More recently, using the homologous recombination technique in embryonic stem cell, several mouse models have been developed with null mutations in each one of the four SG genes. All sarcoglycan-null animals display a progressive muscular dystrophy of variable severity and share the property of a significant secondary reduction in the expression of the other members of the sarcoglycan subcomplex and other components of the Dystrophin-glycoprotein complex. Mouse models for congenital MD include the dy/dy (dystrophia-muscularis) mouse and the allelic mutant dy(2J)/dy(2J) mouse, both presenting significant reduction of alpha 2-laminin in the muscle and a severe phenotype. The myodystrophy mouse (Large(myd)) harbors a mutation in the glycosyltransferase Large, which leads to altered glycosylation of alpha-DG, and also a severe phenotype. Other informative models for muscle proteins include the knockout mouse for myostatin, which demonstrated that this protein is a negative regulator of muscle growth. Additionally, the stress syndrome in pigs, caused by mutations in the porcine RYR1 gene, helped to localize the gene causing malignant hypertermia and Central Core myopathy in humans. The study of animal models for genetic diseases, in spite of the existence of differences in some phenotypes, can provide important clues to the understanding of the pathogenesis of these disorders and are also very valuable for testing strategies for therapeutic approaches.

Riscos ocupacionais e acidentes de trabalho em um serviço de atendimento móvel de urgência do Rio Grande do Norte

Exploratory, descriptive and quantitative study with prospective data, performed in the Mobile Emergency Care Service in the metropolitan region of Natal/RN, in order to identify the knowledge of the multidisciplinary team about the rules of standard precautions and worker safety, to identify occupational hazards peculiar to the activities of this service; characterize work-related accidents (WRA) and know the procedures adopted after each WRA. The population consisted of 162 professionals and data were collected between the months of November and December 2010. As for personal and professional characteristics, of the 162 professional, 12,96% were physicians; 6,79%, nurses; 33,95%, nursing technicians, 46,29%, conductors; 74,70% were male; 43,21% were between 31 and 40 years old; 69,33% lived in Natal/RN, 50,00% had completed high school; 58,64% were married; 69,75% had children, 46,91% were between 1 and 4 years of training; 61,73% had improvement courses; 59,25% had 3 to 4 years of service; 54,32%, with 1-4 years experience in emergency; 44,44% received 1-2 minimum wages; 78,40% received insalubrity premium; 67,28% worked in Basic Support Unit (BSU); 83,95% had journey on SAMU Metropolitano of 31-40 hours per week; 52,47% had other employments. As for knowledge of rules of standard precautions, safety and occupational hazards, 99,38% knew what it was WRA; 62,96% gave incomplete answers; 74,07% knew the rules of prevent WRA; 46,67% acquired this knowledge in lectures; 53,09% knew Personal Protective Equipment (PPE); 71,60% gave incorrect answers about the importance of standard precautions; 45,06% never received an educational intervention on this issue; 89,51% said that educational interventions in the prevention of WRA are very important; 90,12% pointed out this as a very important issue in the workplace; 27,00% suggested guidance on the topic in the workplace; regarding the physical hazards, 34,57% considered noise as the most important; about chemical hazards, 78,40% chose the gases and smoke; for biological hazards, 48,77% reported contact with the blood; for mechanical hazards, 80,86% said that were transport accidents; about ergonomic risks, 40,12% say it is the tension/stress in the care of critically ill, psychiatric and aggressive patients; and there was an average of 4,5 to the feeling of safety in the workplace. Regarding the data on the WRAs occurred, 31,48% experienced at least one accident event; 72,55% did not notify it; 60,98% answered that there was no routine for notification; 56,86% were performing patient transportation; 49,02% were hurt in the Basic Support Unit/Rescue Unit (BSU/RH); 60,78% occurred during the day; 96,08% of professionals were in normal work schedule (24 hours on duty); 31,37% had contusion; 58.82% had damage to members/pelvic girdle; 43,14% had traffic accidents. About the evolution of the WRA, 62,75% did not have to take time away from work; 76,47% had no sequelae; 88,24% did not require rehabilitation; no professional had a change of occupation. And by means of univariate logistic regression, showed that the nurses and male sex were risk factors for the occurrence of WRA. We conclude that there were gaps in the knowledge of staff regarding WRA, emphasizing the need for continuing education in biosafety in the service.

Rhinolekos, a new genus with three new species of Hypoptopomatinae (Siluriformes: Loricariidae) from upper rio Paraná

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Association of 3D Reconstruction and Conventional Radiography for the Description of the Appendicular Skeleton of Chelonoidis carbonaria (Spix, 1824)

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Electromyographic validation of the trapezius and serratus anterior muscles in rowing exercises with closed grip

Because the lack of specialized textbooks, the select of basic exercises for physical conditioning programmes is based on empirical knowledge. This fact led the authors to propose the study on electromyographic activity of the trapezius (upper portion) (TS) and the serratus anterior (lower portion) (SI) muscles in rowing exercises with closed grip in three different modalities. The tests were carried out with 24 male volunteers, 18 to 25 years old, by using a two-channel TECA TE 4 electromyograph and Hewlett Packard surface electrodes. For exercises execution, a long bar made of light wood was used. TS acted significantly in the three different modalities, that is, upright, sitting and bent over, while SI acted preferentially in upright and sitting rowing exercises, justifying their inclusion as basic exercises in physical conditioning programmes.

Electromyographic validation of basic exercises for physical conditioning programmes IV. Analysis of the deltoid muscle (anterior portion) and pectoralis major muscle (clavicular portion) in frontal-lateral cross, dumbbells exercises

The electromyographic activity of the shoulder muscles deltoid - anterior portion (DA) and pectoralis major - clavicular portion (PMC) was tested on 24 male volunteers using a 2 channel TEC A TE4 electromyograph and Hewlett Packard surface electrodes during the execution of four different modalities of frontal-lateral cross, dumbbells exercises. The results showed that all of the tested exercises developed high levels of action potential for both muscles. So, we jusfity the indication of all of them for physical fitness programmes for DA and PMC. Some suggestions to the use of the tested exercises are presented.

A New Miniature Characid (Ostariophysi: Characiformes: Characidae), with Phylogenetic Position Inferred from Morphological and Molecular Data

Erythrocharax altipinnis is described from the Serra do Cachimbo, Pará, Brazil. The new taxon is distinguished from all of the Characidae genera by having the pelvic bones firmly attached through the isquiatic processes; a nearly triangular hiatus in the musculature covering the anterior chamber of the swim bladder between the first and second pleural ribs (pseudotympanum); the pedunculate, notably expanded and distally compressed teeth in both jaws; circumorbital series represented by antorbital and four infraorbital bones with laterosensory canals not enclosed; a single tooth row in the premaxillary with the teeth perfectly aligned and similar in shape and cusp number; the first three branched dorsal-fin rays distinctly elongate in males; a bright red adipose and caudal fins in life; a conspicuous dark midlateral stripe extending from the opercle to the tip of the median caudal-fin rays; and by the absence of a humeral spot. The phylogenetic position of the new taxon is discussed using morphological and molecular datasets, with conflicting results of both approaches discussed. Additionally, a summarized discussion on the current problems in the Characidae taxonomy is presented and the principal biases in the morphological dataset are also discussed. © 2013 Netto-Ferreira et al.

Obtenção, manutenção e caracterização de células-tronco embrionárias equinas

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Estudo microestrutural em mineralização aurífera do tipo-veio hospedada em zona de cisalhamento: caso do depósito Sertãozinho, província Borborema, NE do Brasil

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Morfologia funcional e desenho corporal da cintura pélvica e membros posteriores dos Tamanduás (Mammalia : Xenarthra : Myrmecophagidae)

Entre os mamíferos, os xenartros são, sem dúvida alguma um grupo bastante singular no que diz respeito à morfologia, fisiologia e hábitos locomotores e alimentares. Dentro da ordem Xenarthra, a família Myrmecophagidae é a que tem recebido nos últimos anos, menos atenção em termos de trabalhos sobre morfologia funcional e biomecânica, em especial dos membros posteriores. Visando contribuir para o enriquecimento do conhecimento biológico acerca da natureza morfofuncional e biomecânica dos membros posteriores (fêmur e tíbia) e cintura pélvica destes animais [gêneros Cyclopes (tamanduaí), Tamandua (tamanduá-de-colete) e Myrmecophaga (tamanduá-bandeira)], este trabalho propõe um estudo osteológico descritivo-comparativo destas estruturas, enfatizando os principais pontos com reflexo na funcionalidade biomecânica ligada aos hábitos locomotores. Para isso, além das descrições osteológicas, foram tomadas vinte e três medidas pós-cranianas distribuídas entre a cintura pélvica, fêmur, tíbia, úmero e rádio. A partir de tais medidas, foram calculados treze índices osteométricos, os quais provaram ser eficazes na caracterização morfofuncional dos três gêneros mirmecofagídeos, além de separá-los biomecanicamente em seus estilos locomotores.

Análise morfométrica em cinco espécies do gênero Mabuya Fitzinger, 1826 (Squamata : Scincidae)

O presente trabalho tem como objetivo analisar a variação da forma do corpo ao longo da ontogenia em Mabuya agilis Boulenger, 1887; M. bistriata (Spix, 1825); M. guaporicola Dunn, 1936; M. macrorkyncha Hoge, 1946 e M. nigropunctata (Spix, 1825), espécies sul-americana de lagartos, buscando definir as diferenças interespecíficas em termos de suas proporções corporais, qual o papel de um possível crescimento alométrico no desenvolvimento da forma adulta de cada espécie, e se as diferenças observadas poderiam estar associadas às diferenças nos hábitats ocupados por cada espécie. Para isso foi utilizado a análise de componentes principais (PCA), para estimar tanto as trajetórias ontogenéticas como o crescimento alométrico de cada espécie. Dados sobre os hábitats ocupados por cada espécie foram compilados da literatura. A inclinação da reta indicando a trajetória ontogenética foi significativamente diferente entre Mabuya guaporicola e todas as demais espécies, e entre M. bistriata e M. nigropunctata. A análise dos coeficientes alométricos permitiram constatar que: a redução relativa dos membros, associado com um alongamento do corpo em Mabuya guaporicola, foi alcançada através da redução das mãos, pés e, especialmente, dos dígitos; em M. agi/is houve um alongamento do corpo; M. macrorhyncha apresentou a região da cintura escapular robusta, especialmente alta, e as mãos com uma redução acentuada; em M. bistriata os braços são relativamente curtos e coxa e tíbia alongados; e M. nigmpunctata, comparado com as demais espécies estudadas, foi a espécie cuja forma do corpo menos se alterou ao longo do crescimento. Através desses resultados, juntamente com os dados obtidos da literatura sobre o hábitat ocupado por cada espécie estudada, foi concluído que algumas especializações morfológicas encontradas poderiam ser explicadas como adaptações funcionais ao uso de seus hábitats.

A morfologia de Stenocercus dumerilii Steindachner (1867) (Squamata, Iguanidae) e suas implicações filogenéticas

O estudo teve por objetivo incluir Stenocercus dumerilii (Steindachner, 1867) no contexto dos estudos filogenéticos recentes realizados com Tropidurinae*. Apresenta-se uma descrição da escutelação, crânio, cintura escapular, esqueleto abdominal e hemipênis, com ênfase nos caracteres utilizados na literatura em análises filogenéticas envolvendo o gênero Stenocercus. O estudo baseou-se em 65 exemplares fixados, dois exemplares diafanizados e dois hemipénis evertidos. Constatou-se que S. dumerilii apresenta as características utilizadas para definir o gênero Stenocercus, dentro de sua definição atual, assim como os táxons hierarquicamente superiores que o incluem. Algumas diferenças observadas são um único par de costelas xifisternais, cauda deprimida, escamas pós-supraciliares projetadas em forma de "chifre" (também presente em S. tricristatus) e escamas parietais, pós-parietais e occipitais aumentadas, em seqüência longitudinal. Ao contrário do que tem sido considerado anteriormente, a espécie não apresenta grande parte das características do denominado "grupo Opkyoessoides". As principais características de S. dumerilii que o separam deste grupo são o arranjo das escamas supraoculares e posteriores da cabeça e a distância entre os pares de costelas pós-xifisternais. Conclui-se que S. dumerilii se enquadra bem nos Tropidurinae* e no gênero Stenocercus, mas não faz parte do chamado "grupo Ophryoessoides".

Estudo comparativo de restos fósseis e recentes de Amphisbaenia: abordagens filogenéticas, paleoecológicas, paleobiogeográficas

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Trichomycterus anhanga, a new species of miniature catfish related to T. hasemani and T. johnsoni (Siluriformes: Trichomycteridae) from the Amazon basin, Brazil

Trichomycterus anhanga is described from the Amazon basin, northern Brazil. The species is diagnosed by the latero-sensory system which is restricted to LL1 and LL2, the pectoral fin with two branched rays, the absence of pelvic fins and girdle, the reduced jaws and pharyngeal dentition, the presence of six to seven interopercular odontodes, the absence of a lateral series of spots, the presence of a small dark spot on the ventral surface of the mandibular symphysis, the narrow comma-shaped palatine, the absence of procurrent rays anterior to the dorsal and anal fins, the position of insertion of the first dorsal-fin pterygiophore and the presence of a single pair of pleural ribs. Trichomycterus anhanga shares with T. hasemani and T. johnsoni a wide cranial fontanel which occupies most of the skull roof. Miniaturization as well as synapomorphies for the T. hasemani group are discussed.