Recurrent Deletion of ZNF630 at Xp11.23 Is Not Associated With Mental Retardation

ZNF630 is a member of the primate-specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involved in mental retardation. This suggests that mutations of ZNF630 might influence cognitive function. Here, we detected 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99% sequence identity, indicating that the deletions resulted from non-allelic homologous recombination. In 2,121 healthy male controls, 10 ZNF630 deletions were identified. In total, there was a 1.6-fold higher frequency of this deletion in males with mental retardation as compared to controls, but this increase was not statistically significant (P-value = 0.174). Conversely, a 1.9-fold lower frequency of ZNF630 duplications was observed in patients, which was not significant either (P-value = 0.163). These data do not show that ZNF630 deletions or duplications are associated with mental retardation. (C) 2010 Wiley-Liss, Inc.

Preferential location of lidocaine and etidocaine in lecithin bilayers as determined by EPR, fluorescence and H-2 NMR

We have examined the effect of the uncharged species of lidocaine (LDC) and etidocaine (EDC) on the acyl chain moiety of egg phosphatidylcholine liposomes. Changes in membrane organization caused by both anesthetics were detected through the use of EPR spin labels (5, 7 and 12 doxyl stearic acid methyl ester) or fluorescence probes (4, 6, 10, 16 pyrene-fatty acids). The disturbance caused by the LA was greater when the probes were inserted in more external positions of the acyl chain and decreased towards the hydrophobic core of the membrane. The results indicate a preferential insertion of LDC at the polar interface of the bilayer and in the first half of the acyl chain, for EDC. Additionally, 2 H NMR spectra of multilamellar liposomes composed by acyl chain-perdeutero DMPC and EPC (1:4 mol%) allowed the determination of the segmental order (S-mol) and dynamics (T-1) of the acyl chain region. In accordance to the fluorescence and EPR results, changes in molecular orientation and dynamics are more prominent if the LA preferential location is more superficial, as for LDC while EDC seems to organize the acyl chain region between carbons 2-8, which is indicative of its positioning. We propose that the preferential location of LDC and EDC inside the bilayers creates a ""transient site"", which is related to the anesthetic potency since it could modulate the access of these molecules to their binding site(s) in the voltage-gated sodium channel. (C) 2007 Elsevier B.V. All rights reserved.

Medidor de massa magra para seres humanos

Seja por motivos de saúde, estéticos ou de desempenho físico, cada vez mais há interesse em conhecer o próprio percentual de gordura corporal (%GC). Métodos cada vez menos invasivos e menos intrusivos vem sendo pesquisados para obter tal medida com o mínimo de desconforto para o paciente. Infelizmente, equipamentos de medição do %GC que apresentem operação simples, baixo custo e que possibilitem que o próprio paciente realize a medição não são encontrados no mercado nacional. O objetivo maior deste trabalho consiste, por isso, em propor um medidor com estas características. Para isso, verifica-se a possibilidade de utilizar um método com ultra-som de baixa freqüência para obter as espessuras de tecido adiposo subcutâneo e a partir disto, o %GC. Devido à elevada sensibilidade ao posicionamento do corpo de prova verificada, o que ocasiona total falta de repetibilidade das medidas, o uso de tal método é descartado. Como alternativa, propõe-se o uso do método de bioimpedância para o medidor. Os detalhes de projeto de tal equipamento são discutidos e um protótipo de suas partes críticas é implementado para mostrar sua viabilidade. A análise do protótipo construído demonstra que o equipamento devidamente acabado, quando operado em modo de bioimpedância total, apresentará precisão, exatidão, facilidade de operação e custo adequados ao uso proposto. Na operação em modo de bioimpedância segmental, todavia, a exatidão das medidas obtidas deixa a desejar, devido à provável inadequação das equações de predição usadas.

Segmentos anátomo-cirúrgicos arteriais do rim de cutia (Dasyprocta prymnolopha)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Distribution of neutral prilocaine in a phospholipid bilayer: Insights from molecular dynamics simulations

In this work, we report a 20-ns constant pressure molecular dynamics simulation of prilocaine (PLC), in amine-amide local anesthetic, in a hydrated liquid crystal bilayer of 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphatidylcholine. The partition of PLC induces the lateral expansion of the bilayer and a concomitant contraction in its thickness. PLC molecules are preferentially found in the hydrophobic acyl chains region, with a maximum probability at similar to 12 angstrom from the center of the bilayer (between the C(4) and C(5) methylene groups). A decrease in the acyl chain segmental order parameter, vertical bar S-CD vertical bar, compared to neat bilayers, is found, in good agreement with experimental H-2-NMR studies. The decrease in vertical bar S-CD vertical bar induced by PLC is attributed to a larger accessible volume per lipid in the acyl chain region. (C) 2008 Wiley Periodicals, Inc.

Preferential location of lidocaine and etidocaine in lecithin bilayers as determined by EPR, fluorescence and H-2 NMR

We have examined the effect of the uncharged species of lidocaine (LDC) and etidocaine (EDC) on the acyl chain moiety of egg phosphatidylcholine liposomes. Changes in membrane organization caused by both anesthetics were detected through the use of EPR spin labels (5, 7 and 12 doxyl stearic acid methyl ester) or fluorescence probes (4, 6, 10, 16 pyrene-fatty acids). The disturbance caused by the LA was greater when the probes were inserted in more external positions of the acyl chain and decreased towards the hydrophobic core of the membrane. The results indicate a preferential insertion of LDC at the polar interface of the bilayer and in the first half of the acyl chain, for EDC. Additionally, 2 H NMR spectra of multilamellar liposomes composed by acyl chain-perdeutero DMPC and EPC (1:4 mol%) allowed the determination of the segmental order (S-mol) and dynamics (T-1) of the acyl chain region. In accordance to the fluorescence and EPR results, changes in molecular orientation and dynamics are more prominent if the LA preferential location is more superficial, as for LDC while EDC seems to organize the acyl chain region between carbons 2-8, which is indicative of its positioning. We propose that the preferential location of LDC and EDC inside the bilayers creates a "transient site", which is related to the anesthetic potency since it could modulate the access of these molecules to their binding site(s) in the voltage-gated sodium channel. (C) 2007 Elsevier B.V. All rights reserved.

Avaliação dos efeitos da reeducação postural global (rpg) em pacientes com espondilite anquilosante

The Ankylosing Spondylitis (AS) is a chronic inflammatory disease that primarily affects the axial skeleton, leading to limitation of spine mobility and functional disability. Physical therapy, especially exercise, is an important part in your treatment. The Global Postural Reeducation(GPR),a method that uses stretching based on evaluation of muscular chains, with significant interference in postural changes may be a complementary alternative for the treatment of this disease. The aim was to evaluate the effects of Global Postural Reeducation (GPR) in patients with Ankylosing Spondylitis (AS) and compare GPR with group conventional segmental self-stretching and breathing exercises. This is a controlled interventional study of 38 patients divided into 2 groups: a GPR group (n = 22) and a control group (n = 16). Both groups were treated over four months. With the GPR group patients, positions that stretched the shortened muscle chains were used. With the control group patients, conventional segmental self-stretching and breathing exercises were performed. The variables analyzed were: pain intensity, morning stiffness, spine mobility, chest expansion, functional capacity (Health Assessment Questionnaire - Spondyloarthropathies - HAQ-S), quality of life (Medical Outcome Study Short Form 36 Healthy Survey-SF-36), and disease activity (Bath Ankylosing Spondylitis Disease Activity Index - BASDAI). Statistical analysis was used with a significance level of p < 0.05. There was a statistically significant difference for all the parameters analyzed between pre and post-treatment in both groups. In the inter-group comparison the GPR group showed a statistically significant improvement in morning stiffness (p = 0.01), spine mobility parameters, except finger-floor distance (p = 0.11), in chest expansion (p = 0.02), and in the physical aspect component of the SF-36 (p = 0.00).Finally, we observed that this sample of patients with AS ,treatment with RPG 60 seems to have a better response in some clinical measures, than the conventional self stretching performed in groups. Further studies are needed to further evaluate this therapeutic alternative in the EA

Rupture of the cranial cruciate ligament associated with deformity of the proximal tibia in five dogs

Excessive mechanical stress due to caudal sloping of the tibial plateau may result In early breakdown of the cranial cruciate ligament (CrCL). Five dogs with CrCL rupture associated with caudal sloping of the proximal tibial plateau are described. All were small dogs, of between three and six years of age, with a mean bodyweight of 9.3 kg, which had acute hindlimb lameness. Radiographic examination revealed cranial displacement of the tibia, with a tibial angle varying from 58 to 60 degrees. All cases were treated with a lateral fabellotibial suture and cranial cuneiform osteotomy of the proximal tibia. All dogs were using the operated limb three days after surgery, with normal gait re-established after a mean period of 10 days. Excessive tibial plateau sloping is not a frequent cause of hindlimb lameness In small animals, although it Is Important to consider it as a predisposing factor for rupture of the CrCL.

Placas de aço inoxidável 316L aplicadas no reparo de fratura experimental diafisária do rádio e ulna de cães

O objetivo do presente trabalho foi o de estudar a resistência à corrosão em placas de aço inoxidável 316L, com diferentes tipos de acabamento e tratamento superficial, e a possível interferência dessa reação corrosiva na consolidação óssea. Utilizaram-se placas semi-acabadas, polidas, tratadas com jatos de microesferas de vidro e passivadas, as quais foram aplicadas na epífise distal do rádio de cães. Foram utilizados 12 animais, divididos em dois grupos, nos quais, após osteotomia bilateral do rádio e ulna, foram realizadas osteossínteses do rádio, totalizando 24 procedimentos. Avaliou-se a evolução clínica e radiográfica das regiões que receberam os implantes aos 30, 60, 90, 180, 240 e 360 dias. Os animais do grupo 1 (GI) foram sacrificados aos 180 dias e os do GII aos 360 dias para estudo histológico e de microscopia eletrônica de varredura do local da osteotomia sob a região dos implantes metálicos e para estudo da resistência à corrosão no organismo, pelos implantes metálicos, por meio de análises química e metalográfica (microscopia óptica e eletrônica de varredura e espectroscopia de espalhamento de energia por raios X). Os animais recuperaram a função dos membros operados 24 horas após a cirurgia. Radiograficamente, verificou-se a consolidação óssea em todos os animais. Macro e microscopicamente não foram observados sinais de corrosão nos implantes metálicos, exceto em uma placa passivada, aplicada no rádio esquerdo de um animal, na qual a corrosão foi detectada pela microscopia óptica e eletrônica de varredura. Este estudo permite concluir que as placas de aço inoxidável 316L, independente do acabamento superficial a que foram submetidas, não sofreram corrosão ou reações adversas e foram efetivas no tratamento das fraturas experimentais do rádio e ulna de cães.

Avaliação radiográfica da cobertura acetabular à cabeça femoral, após osteotomia tripla e aplicação de cunha sacroilíaca, em pelve de cadáveres de cães

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

Mapping of serotonin-immunoreactive neurons of Anastrepha obliqua Macquart larvae

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Tenoplastia experimental do calcâneo em cães com peritônio bovino conservado em glicerina

No presente estudo, avaliou-se a eficácia do emprego do peritônio bovino, conservado em glicerina a 98%, no reparo de lesões induzidas no tendão calcâneo (TC) de cães, quando um fragmento de aproximadamente 1cm do TC foi excisado e o espaço resultante preenchido por um fragmento de peritônio. Foram utilizados 21 cães, pesando entre 10 e 15kg, divididos em 7 grupos de 3, sacrificados aos 02, 07, 15, 30, 60, 90 e 120 dias de pós-operatório. Analisaram-se os aspectos clínico-cirúrgicos referentes à recuperação funcional motora, bem como, a integração do peritônio com o tecido tendíneo mediante avaliação macroscópica, por microscopia óptica e por microscopia eletrônica de varredura. Clinicamente, verificou-se que, por volta do 55º dia de pós-operatório, os animais já apresentavam deambulação normal e que o neotendão apresentou resistência suficiente para suportar o estresse normalmente aplicado ao TC. Microscopicamente, o peritônio implantado esteve presente em todos os períodos de observação. Proliferação fibroblástica e neoformação vascular foram observadas de forma incipiente no segundo dia; entretanto, no sétimo dia de pós-operatório, esta condição foi exacerbada. Com a evolução, as fibras de peritônio tendiam a se dissociar, entrando em estreita associação com fibras conjuntivas, fibroblastos e colágeno. Aos 30, 60, 90 e 120 dias de pós-operatório, notava-se maior presença de colágeno que se tornava cada vez mais organizado. Concluiu-se que o peritônio estimulou uma rápida deposição de tecido conjuntivo com mínima reação inflamatória, sendo incorporado ao tecido cicatricial e servindo como alicerce para o desenvolvimento de um novo tecido, restabelecendo assim a estrutura do tendão.

The Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution

To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.

The Effects of Physical Fitness and Body Composition on Oxygen Consumption and Heart Rate Recovery After High-Intensity Exercise

The aim of this study was to investigate the potential relationship between excess post-exercise oxygen consumption (EPOC), heart rate recovery (HRR) and their respective time constants (tvo(2) and t(HR)) and body composition and aerobic fitness (VO(2)max) variables after an anaerobic effort. 14 professional cyclists (age = 28.4 +/- 4.8 years, height = 176.0 +/- 6.7 cm, body mass = 74.4 +/- 8.1 kg, VO(2)max = 66.8 +/- 7.6 mL. kg(-1) . min(-1)) were recruited. Each athlete made 3 visits to the laboratory with 24h between each visit. During the first visit, a total and segmental body composition assessment was carried out. During the second, the athletes undertook an incremental test to determine VO(2)max. In the final visit, EPOC (15-min) and HRR were measured after an all-out 30s Wingate test. The results showed that EPOC is positively associated with % body fat (r = 0.64), total body fat (r = 0.73), fat-free mass (r = 0.61) and lower limb fat-free mass (r = 0.55) and negatively associated with HRR (r = - 0.53, p < 0.05 for all). HRR had a significant negative correlation with total body fat and % body fat (r = - 0.62, r = - 0.56 respectively, p < 0.05 for all). These findings indicate that VO(2)max does not influence HRR or EPOC after high-intensity exercise. Even in short-term exercise, the major metabolic disturbance due to higher muscle mass and total muscle mass may increase EPOC. However, body fat impedes HRR and delays recovery of oxygen consumption after effort in highly trained athletes.

Influence of visual information on optimal obstacle crossing

Human motion seems to be guided by some optimal principles. In general, it is assumed that human walking is generated with minimal energy consumption. However, in the presence of disturbances during gait, there is a trade-off between stability (avoiding a fall) and energy-consumption. This work analyses the obstacle-crossing with the leading foot. It was hypothesized that energy-saving mechanisms during obstacle-crossing are modulated by the requirement to avoid a fall using the available sensory information, particularly, by vision. A total of fourteen subjects, seven with no visual impairment and seven blind, walked along a 5 meter flat pathway with an obstacle of 0.26 m height located at 3 m from the starting point. The seven subjects with normal vision crossed the obstacle successfully 30 times in two conditions: blindfolded and with normal vision. The seven blind subjects did the same 30 times. The motion of the leading limb was recorded by video at 60 Hz. There were markers placed on the subject's hip, knee, ankle, rear foot, and forefoot. The motion data were filtered with a fourth order Butterworth filter with a cut-off frequency of 4 Hz. The following variables were calculated: horizontal distance between the leading foot and the obstacle at toe-off prior to (DHPO) and after (DHOP) crossing, minimal vertical height from the foot to the obstacle (DVPO), average step velocity (VELOm). The segmental energies were also calculated and the work consumed by the leading limb during the crossing obstacle was computed for each trial. A statistical analysis repeated-measures ANOVA was conducted on these dependent variables revealing significant differences between the vision and non-vision conditions in healthy subjects. In addition, there were no significant differences between the blind and people with vision blindfolded. These results indicate that vision is crucial to determine the optimal trade-off between energy consumption and avoiding a trip during obstacle crossing.