Identification of a Microdeletion at the 7q33-q35 Disrupting the CNTNAP2 Gene in a Brazilian Stuttering Case

Speech and language disorders are some of the most common referral reasons to child development centers accounting for approximately 40% of cases. Stuttering is a disorder in which involuntary repetition, prolongation, or cessation of the sound precludes the flow of speech. About 5% of individuals in the general population have a stuttering problem, and about 80% of the affected children recover naturally. The causal factors of stuttering remain uncertain in most cases; studies suggest that genetic factors are responsible for 70% of the variance in liability for stuttering, whereas the remaining 30% is due to environmental effects supporting a complex cause of the disorder. The use of high-resolution genome wide array comparative genomic hybridization has proven to be a powerful strategy to narrow down candidate regions for complex disorders. We report on a case with a complex set of speech and language difficulties including stuttering who presented with a 10Mb deletion of chromosome region 7q33-35 causing the deletion of several genes and the disruption of CNTNAP2 by deleting the first three exons of the gene. CNTNAP2 is known to be involved in the cause of language and speech disorders and autism spectrum disorder and is in the same pathway as FOXP2, another important language gene, which makes it a candidate gene for causal studies speech and language disorders such as stuttering. (C) 2010 Wiley-Liss, Inc.

Aspectos médico-legais da cirurgia para hérnia inguinal

Professional responsibility is an inherent factor to the medical activity. Therefore, the adoption of a healthy conduct based on good relationship between the physician and the patient, as well as the understanding of this professional of the several aspects involved in the inguinal hernia repairs, are considered the better means to protect himself against possible litigations with its patients. This issue provides a complete evaluation of medical and legal problems related to the inguinal hernia surgery, and discusses the care that surgeon must exercise during preoperative, intraoperative and postoperative periods. That authors also comment about medical error and its conception from the point of the new Civil Code.

Prevenção de conflitos médico-legais no exercício da medicina

Os conflitos médico-legais que ocorrem no exercício da Cirurgia e da Medicina são motivos de preocupação não só no meio médico, mas também na sociedade como um todo, pois se de um lado geram um maior desgaste emocional ao médico, por outro, os pacientes estão sendo rejeitados. As causas desses conflitos são muitas, envolvendo fatores não assistenciais, como o sistema de saúde distorcido e desorganizado, a falta de participação da sociedade e do médico na melhoria desse sistema, o aparelho formador que lança no mercado grande número de jovens médicos despreparados para o exercício dessa nobre profissão, além da falta do ensino continuado. A solução para esses conflitos não poderá ser por meio de simples criação de leis, e nem pela negativa da existência do erro médico, que ocorre numa freqüência até maior do que os próprios conflitos. Todavia, pode-se afirmar que é muito importante melhorar a relação médico-paciente. É necessário, ainda, que o médico conheça a fundo seus deveres de conduta e que, principalmente, se abstenha de praticar abusos do poder. A sociedade deve também entender que a saúde não é uma questão exclusiva dos médicos e que deve lutar pela melhoria das condições dos níveis de vida.

O consentimento informado: Qual o seu real valor na prática médica?

Trata-se de um artigo que comenta sobre a real importância do Termo de Consentimento Informado na prática médica. Este documento tem sido cada vez mais usado como uma prática defensiva, a fim de constituir provas para defesa de um eventual processo judicial de responsabilidade médica, desvirtuando assim a idéia original, que seria a de respeitar a autonomia do paciente e delimitar a responsabilidade médica. O documento tem como objetivo mostrar que o médico cumpriu com seu dever de informar. Seu grande valor reside nos casos onde existam riscos de danos irreversíveis ao paciente. Conclui-se, porém, que um prontuário bem elaborado onde se inclui o registro das informações que foram transmitidas, bem como o grau de participação dos pacientes e seus familiares nas decisões terapêuticas, também deve ter valor ético e jurídico semelhante do TCI.

Metabolic syndrome and dietary components are associated with coronary artery disease risk score in free-living adults: a cross-sectional study

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Testicular thermoregulation in Bos indicus, crossbred and Bos taurus bulls: relationship with scrotal, testicular vascular cone and testicular morphology, and effects on semen quality and sperm production

Mechanisms of testicular thermoregulation, the relationship of scrotal, testicular vascular cone (TVC), and testicular morphology with thermoregulatory capability, and their effects on semen quality and sperm production were studied in 20 Bos indicus, 28 crossbred, and 26 Bos taurus bulls. The ratio of testicular artery length and volume to testicular volume were larger (P < 0.05) in B. indicus and crossbred bulls than in B. taurus bulls (1.03 and 0.94 cm/cm(2). versus 0.48 cm/cm(3); 0.034 and 0.047 ml/cm(3) versus 0.017 ml/cm(3), respectively). Testicular artery wall thickness (average 192.5, 229.0, and 290.0 mum, respectively) and arterial-venous blood distance in the TVC (average 330.5, 373.7, and 609.4 pm, respectively) were smallest in B. indicus, intermediary in crossbred, and greatest in B. taurus bulls (P < 0.05); the proximity between arterial and venous blood was consistent with the estimated decrease in arterial blood temperature after passage through the TVC (5.9, 5.0, and 2.9 degreesC, in B. indicus, crossbred, and B. taurus bulls, respectively). In crossbred and B. taurus bulls, there was a positive top-to-bottom scrotal temperature gradient and a negative testicular subtunic temperature gradient. However, in B. indicus bulls, both scrotal and testicular subtunic temperatures gradients were positive. Differences in the vascular arrangement, characteristics of the artery (e.g. wall thickness) or thickness of the tunica albuginea may have affected the testicular arterial blood and subtunic temperatures in B. indicus bulls. Better testicular thermoregulatory capability was associated with increased scrotal shape (pendulosity), testicular artery length and volume, and top-to-bottom gradient of the distance between the artery wall and the veins in the TVC. Increased semen quality was associated with increased testicular volume and scrotal subcutaneous (SQT) temperature gradient, and with decreased scrotal surface and testicular temperatures. Increased sperm production was associated with increased testicular artery volume, testicular volume, and SQT temperature gradient, and with decreased testicular artery wall thickness, scrotal circumference (SC), and scrotal surface, testicular subtunic, and epididymal temperatures. In conclusion, morphology of the TVC may contribute to the greater resistance of B. indicus bulls to high ambient temperatures by conferring a better testicular blood supply and by facilitating heat transfer between the testicular artery and veins. Testicular thermoregulation was associated with opposing scrotal and testicular subtunic temperatures gradients only in crossbred and B. taurus bulls. Scrotal, TVC, and testicular morphology influence testicular thermoregulatory capability and were associated with differences in semen quality and sperm production. (C) 2003 Elsevier B.V. All rights reserved.

Aspectos macroscópicos e morfométricos dos testículos em catetos e queixadas

Aspectos macroscópicos e morfométricos dos testículos em catetos e queixadas. Este trabalho objetiva fornecer dados macroscópicos e morfométricos dos testículos dos catetos e queixadas. O material utilizado consistiu de catetos e queixadas oriundos da Fazenda Devaneio Pró-Fauna, Iguape, SP (Reg.1/3593/08480). em 33 queixadas e 20 catetos, após o abate, os testículos foram colhidos e tomados dados morfométricos como: comprimento, largura e espessura (com o auxílio de um paquímetro). Os testículos são ovalados, localizados na região pélvica, inclinados dorso-caudalmente e possuem posição intermediária. O mediastino testicular esta no centro do testículo, ligeiramente desviado para a margem epididimária deste, e termina na extremidade capitata. Os queixadas adultos possuem em média 30,92 ± 3,82 kg de peso corporal e 78,89 ± 4,77 cm de comprimento corporal, enquanto os jovens apresentam 22,93 ± 2,07 kg e 71,57 ± 3,95 cm de comprimento. Os resultados demonstram que no grupo de queixadas adultos estudado o testículo direito teve comprimento, largura e espessura médios de 5,36 ± 0,64cm; 3,64 ± 0,64cm e 3,30 ± 0,52cm respectivamente, enquanto que o esquerdo teve 5,45 ± 0,77cm; 3,68 ± 0,59cm e 3,32 ± 0,54cm. Nos queixadas jovens os valores encontrados foram de 3,20 ± 0,44cm, 2,12 ± 0,26cm e 2,11 ± 0,40cm, e de 3,23 ± 0,47cm; 2,21 ± 0,39cm e 1,99 ± 0,36cm, para a largura, comprimento e espessura dos testículos direito e esquerdo respectivamente. Já para os catetos o testículo direito teve comprimento, largura e espessura de 4,36 ± 0,38cm; 2,74 ± 0,27cm e 2,33 0,46cm respectivamente, enquanto que o esquerdo teve 4,19 ± 0,36cm; 2,68 ± 0,31cm e 2,34 ± 0,28cm. Os dados analisados não tiveram diferenças significativas (p<0,05) entre os valores encontrados para os testículos direito e esquerdo pelo testes de Qui-dradado.

Effect of dentin conditioning time on nanoleakage

Objectives: To study the nanoleakage pattern in the dentin hybrid layer by using different dentin adhesives. The null hypotheses tested in this study were: 1) dentin conditioning time does not affect nanoleakage within the hybrid layer; 2) the type of dentin adhesive used does not affect nanoleakage. Methods: Standardized Class V cavities were prepared in 30 intact human molars on the buccal and lingual surfaces. The specimens were randomly assigned to 2 total-etch dentin adhesives (OptiBond SOLO Plus [OPS, Kerr] and One-Step [ONS, BISCO Inc]) and 2 self-etch dentin adhesives (Clearfil SE Bond [CSE, Kuraray] and Adper Prompt L-Pop [APL, 3M ESPE]). The specimens were etched or conditioned for 15 seconds, 30 seconds or 60 seconds. Upon restoration of the Class V cavities with the proprietary resin composite, the specimens were isolated with nail polish except for a 2.0-mm rim around the restoration, and they were immersed in 50 wt% ammoniacal silver nitrate solution (pH=9.5) for 24 hours followed by 8 hours of immersion in photo-developing solution to reduce the silver ions to metallic silver. The specimens were fixed, dehydrated and processed for FESEM and TEM. Silver penetration was measured along the cervical wall, and data were analyzed with Kruskal-Wallis non-parametric tests at a significance level of 95%. Results: There were no statistically significant differences among the experimental groups for the factor conditioning time (p>0.926). There were significant differences for the variable dentin adhesive (p<0.0001). The least amount of nanoleakage within the hybrid layer occurred with CSE, while ONS resulted in the greatest penetration of silver ions. The adhesives OPS and APL ranked in the intermediary subset. Under TEM, all adhesives resulted in some degree of nanoleakage within the hybrid layer. Both spotted/reticular and water-tree nanoleakage patterns were observed. Significance: Longer conditioning times did not increase nanoleakage within the hybrid layer. Nanoleakage varied with the type of adhesive used.

Direct Esthetic Restorations Based on Translucency and Opacity of Composite Resins

Light dynamics is a relevant phenomenon with respect to esthetic restorations, as incorrect analysis of the optical behavior of natural dentition may lead to potential clinical failures. The nature of incident light plays a major role in determining the amount of light transmission or reflection, and how an object is perceived depends on the nature of the light source. Natural teeth demonstrate translucency, opalescence, and fluorescence, all of which must be replicated by restorative materials in order to achieve clinical success. Translucency is the intermediary between complete opacity and complete transparency, making its analysis highly subjective. In nature, the translucency of dental enamel varies from tooth to tooth, and from individual to individual. Therefore, four important factors must be considered when appraising translucency. Presence or absence of color, thickness of the enamel, degree of translucency, and surface texture are essential components when determining translucency. State-of-the-art resin composites provide varying shades and opacities that deliver a more faithful reproduction of the chromaticity and translucency/opacity of enamel and dentin. This enables the attainment of individualized and customized composite restorations. The objective of this article is to provide a review of the phenomena of translucency and opacity in the natural dentition and composite resins, under the scope of optics, and to describe how to implement these concepts in the clinical setting.CLINICAL SIGNIFICANCEChoosing composite resins, based on optical properties alone, in order to mimic the properties of natural tooth structures, does not necessarily provide a satisfactory esthetic outcome. In many instances, failure ensues from incorrect analysis of the optical behaviors of the natural dentition as well as the improper use of restorative materials. Therefore, it is necessary to implement a technique that enables a restorative material to be utilized to its full potential to correctly replicate the natural teeth.(J Esthet Restor Dent 23:73-88, 2011).

Analysis of depth of the microporosity in a nickel-chromium system alloy: effects of electrolytic, chemical and sandblasting etching

The present study was designed to analyse the average depth of the microporosity of a nickel-chromium (Ni-Cr) system alloy (Verabond II). The metal surface was subject to one of the following surface treatment: (i) Electrolytic etching in nitric acid 0.5 N at a current density of 250 mA cm(-2) ; (ii) chemical etching with CG-Etch etchant; and (iii) Sandblasting with alumina particles 50 mum. Half of the samples were polished before the surface treatments. The depth of porosity was measured through photomicrographs (500x) with a profilometer, and the data were statistically analysed using an analysis of variance (anova) followed by Tukey's test. The conclusions were (i) Differents surface treatment of the Ni-Cr system alloy lead to different depths of microporosity; (ii) the greatest depth of porosity was observed in non-polished alloy; (iii) the greatest and identical depth of microporosity was observed following electrolytic etching and chemical etching; (iv) the least and identical depth of microporosity was observed with chemical etching and sandblasting with alumina particles 50 mum, and (v) Chemical etching showed an intermediary depth.

Two novel reports of semidry stigmatic surface in Asteraceae

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

Genetic diversity in Egeria densa and E. najas in Jupia Reservoir, Brazil

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

Elementos figurados da hemolinfa de Dermatobia hominis (Diptera: Cuterebridae): caracterização ao nível de microscopia óptica, em larvas do 2o. e 3o. instares

Foram examinados os hemócitos de larvas do 2º (L2) e 3º(L3) instares de Dermatobia hominis em nível de microscopia óptica e comparados com os de outras espécies encontradas na literatura. Nas L2 e em L3 com peso de até 200mg foram encontrados cinco tipos: Pro-hemócitos, Plasmatócitos, Vermiformes, Oenocitóides e Esfoliativas. A medida em que as L3 foram-se tornando mais idosas apareceram em seqüência os Granulócitos e Adipohemócitos, sendo raro encontrar-se Pro-hemócitos em L3 com peso acima de 500mg. Tipos intermediários entre Pro-hemócitos e Plasmatócitos e entre Granulócitos e Adipohemócitos também foram encontrados, fazendo-se supor que pro-hemócitos dão origem ao Plasmatócito e que este dá origem ao Granulócito que pode acumular grãos de lipídeos transformando-se em Adipohemócito. O Oenocitóide parece ter origem diferente dos demais tipos. Não foram encontradas formas transicionais entre Plasmatócito fusiforme e Vermiforme típica conforme aparece na literatura para algumas espécies. Embora sem ter característica de hemócitos, as células Esfoliativas são elementos que aparecem nos dois instares estudados.

Ultrastructure of Giardia duodenalis trophozoites group from hamster: some relevant aspects

Throphozoites of Giardia duodenalis group obtained from fragments or scratched of hamster's mucosa were examined by transission electron microscopy. The fine structure of the trophozoites are presented and comapred with those described for other animals. Some of the trophozoites present the cytoplasm full of glycogen, rough endoplasmic reticulum-like structures and homogeneous inclusions not enclosed by membranes, recognized as lipid drops, which had not been observed in Giardia from other animals. The adhesive disk is composed of a layer of microtubules, from which fibrous ribbons extend into the cytoplasm; these ribbons are linked by layer of crossbridge filaments that shows an intermediary dense band, described for the first time in this paper. The authors regard this band as the result of the cross-bridge filaments slinding in the medium region between adjacent fibrous ribbons, and suggest a contractile activity for them. The role of the adhesive disk on the trophozoite mechanism of attachment to host mucosa is also discussed.

Comparative anatomy of the male reproductive internal organs of 51 species of bees

A anatomia dos órgãos internos do aparelho reprodutor de machos (ARM) adultos e pupas foi comparada em 51 espécies de abelhas, incluindo representantes de seis famílias. Foram obtidos quatro tipos diferentes de ARM. O tipo I está presente em machos das famílias mais basais (Colletidae, Andrenidae e Halictidae) e é caracterizado por três túbulos seminíferos por testículo, o qual é quase totalmente envolvido pela membrana escrotal. O tipo II é um tipo intermediário entre os tipos I e III e está presente em Mellitidae e Megachilidae, como também em alguns Apidae estudados, sendo caracterizado por possuir dutos deferentes pós-vesiculares fora da membrana escrotal e possuir três ou quatro túbulos seminíferos por testículo, exceto Apis mellifera L., a qual possui secundariamente um número aumentado de túbulos. O tipo III foi achado somente nos Apidae estudados e é caracterizado por apresentar os testículos e dutos genitais (exceto o duto deferente pós-vesicular) encapsulados separadamente, as glândulas acessórias são bem desenvolvidas e o duto ejaculador é calibroso, apresentando fissuras em sua parede externa, as quais podem ocorrer também no tipo II. O tipo IV está presente exclusivamente na tribo Meliponini e é caracterizado pela ausência de glândulas acessórias.