Holoprosencephaly and Holoprosencephaly-Like Phenotypes: Review of Facial and Molecular Findings in Patients From a Craniofacial Hospital in Brazil

Here we report on the clinical and genetic data for a large sample of Brazilian patients studied at the Hospital de Reabilitacao de Anomalas Craniofaciais-Universidade de Sao Paulo (HRAC-USP) who presented with either the classic holoprosencephaly or the holoprosencephaly-like (HPE-L) phenotype. The sample included patients without detected mutations in some HPE determinant genes such as SHH, GLI2, SIX3, TGIF, and PTCH, as well as the photographic documentation of the previously reported patients in our Center. The HPE-L phenotype has been also called of HPE ``minor forms"" or ""microforms,"" The variable phenotype, the challenge of genetic counseling, and the similarities to patients with isolated cleft lip/palate are discussed. (c) 2010 Wiley-Liss, Inc.

Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature

Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive end autosomal dominant inheritance have been reported. In this study, we describe the clinical aspects of nine familial cases with evidence of autosomal dominant inheritance and compare them with reports in the literature. Interfamilial and intrafamilial clinical variabilities were observed in this study (reinforcing the necessity of careful examination of familial members). We suggest that oculoauriculovertebral spectrum with autosomal dominant inheritance is characterized mainly by bilateral auricular involvement and rarely presents extracranial anomalies. Clin Dysmorphol 18:67-77 (C) 2009 Wolters Kluwer Health | Lippincott Williams & Wilkins.

Review of the Brazilian harvestman genus Roeweria Mello-Leitao, 1923 (Opiliones: Gonyleptidae)

The genus Roeweria Mello-Leitao, 1923 is revised and a variation on external morphological characters and male genitalia is presented for Roeweria virescens (Mello-Leitao, 1923). The monotypic genus Harpachylus Roewer, 1943 is a junior synonym of Roeweria Mello-Leitao, 1923 because its type-species, H. tibialis Roewer, 1943 is a junior synonym of the type-species Roeweria bittencourti Mello-Leitao, 1923. Roeweria garrincha sp. n. from Cananeia, Sao Paulo, Brazil, is described and can be distinguished from other members of the genus by the presence of a ventral process on the penis and by very large ventral apophyses on the apex of the male femur and patella IV.

Taxonomic review of Haliclystus antarcticus Pfeffer, 1889 (Stauromedusae, Staurozoa, Cnidaria), with remarks on the genus Haliclystus Clark, 1863

Difficulties concerning the taxonomy of stauromedusae are long known, and there is a clear need for taxonomic revision of the genus Haliclystus, as well as the reevaluation of some species. Haliclystus antarcticus Pfeffer, 1889 is recorded from Admiralty Bay, King George Island, Antarctic Peninsula. Due to the lack of detailed information on this species, we provide a redescription, presenting new data on the cnidome, morphometry, geographical distribution and intraspecific variation. Based on these characters, we propose that our specimens and Haliclystus auricula from Chile and Argentina are synonymous and should be classified as H. antarcticus. We also review the worldwide distribution of the genus Haliclystus Clark, 1863 and discuss taxonomic issues, concluding that some characters traditionally used in the taxonomy of the group should be used cautiously.

Review and cladistic analysis of the Neotropical tarantula genus Ephebopus Simon 1892 (Araneae : Theraphosidae) with notes on the Aviculariinae

The tarantula genus Ephebopus Simon 1892 is reviewed and includes the type species, E. murinus (Walckenaer 1837), and E. uatuman Lucas, Silva & Bertani 1992, E. cyanognathus West & Marshall 2000, E. rufescens West & Marshall 2000 and Ephebopus foliatus, sp. nov., from Guyana. Ephebopus violaceus Mello-Leitao 1930 is transferred to Tapinauchenius Ausserer, where it is a senior synonym of Tapinauchenius purpureus Schmidt 1995 new synonymy. Ephebopus fossor Pocock 1903 is considered a nomen dubium. Ephebopus occurs in northeastern South America where it is known only from Brazil, Guyana, Suriname, and French Guiana. Spiders of the genus are generally fossorial; however, Ephebopus murinus has a developmental stage that is arboreal. A cladistic analysis of the Theraphosidae retrieves the Aviculariinae as monophyletic, including Avicularia Lamarck, Iridopelma Pocock 1901, Pachistopelma Pocock 1901, Tapinauchenius, Psalmopoeus Pocock, Ephebopus, Stromatopelma Karsch and Heteroscodra Pocock, having as a synapomorphy the well-developed scopulae on tarsi and metatarsi I-II that is very laterally extended.

Systematics and phylogeny of Cristacoxidae (Copepoda, Harpacticoida): a review

Both sexes of a new species of Noodtorthopsyllus Lang, 1965 (Harpacticoida, Cristacoxidae) from a sandy beach in Sao Paulo State (Brazil) are described using light and scanning electron microscopy. Noodtorthopsyllus tageae sp. nov. displays a mosaic of characters drawn from both Noodtorthopsyllus and Cristacoxa Huys, 1990, blurring the boundaries between both genera. Consequently, Cristacoxa, the type genus of the nominal family-group taxon Cristacoxidae Huys, 1990, is relegated to a junior subjective synonym of Noodtorthopsyllus, and its type species is transferred to the latter as N. petkovskii (Huys, 1990) comb. nov. A new genus Acuticoxa is proposed to accommodate A. ubatubaensis sp. nov. (type species), collected on the northern continental shelf of Sao Paulo State, and A. biarticulata sp. nov., previously identified as Laophontisochra sp., from the Northern Magellan Straits. Amended diagnoses are provided for Noodtorthopsyllus and Laophontisochra. Autapomorphies supporting the monophyly of the Cristacoxidae are re-evaluated, including new data on P3 endopod sexual dimorphism and caudal ramus development. It is concluded that a recently published hypothesis of a deeply rooted split of the family into two highly divergent lineages cannot be supported. Consequently, both Laophontisochra and Acuticoxa gen. nov. are removed from the Cristacoxidae and tentatively assigned to the Nannopodidae (ex Huntemanniidae), forming a clade with three other genera displaying coxal modifications on leg 1 (Rosacletodes Wells, 1985; Huntemannia Poppe, 1884; and an as yet undescribed genus from Brazil). Based on the sexual dimorphism of the P4 endopod, we propose to transfer Metahuntemannia Smirnov, 1946 and Pottekia Huys, 2009 from the Nannopodidae to the Canthocamptidae (subfamily Hemimesochrinae) where they are probably most closely related to Psammocamptus Mielke, 1975; Bathycamptus Huys & Thistle, 1989; Perucamptus Huys & Thistle, 1989; and Isthmiocaris George & Schminke, 2003. An identification key to the genera of the Nannopodidae is presented.

A review on the combination of binary classifiers in multiclass problems

Several real problems involve the classification of data into categories or classes. Given a data set containing data whose classes are known, Machine Learning algorithms can be employed for the induction of a classifier able to predict the class of new data from the same domain, performing the desired discrimination. Some learning techniques are originally conceived for the solution of problems with only two classes, also named binary classification problems. However, many problems require the discrimination of examples into more than two categories or classes. This paper presents a survey on the main strategies for the generalization of binary classifiers to problems with more than two classes, known as multiclass classification problems. The focus is on strategies that decompose the original multiclass problem into multiple binary subtasks, whose outputs are combined to obtain the final prediction.

Growth and Melting of Metallic Nanoclusters in Glass: A Review of Recent Investigations

The mechanisms of nucleation and growth and the solid-to-liquid transition of metallic nanoclusters embedded in sodium borate glass were recently studied in situ via small-angle X-ray scattering (SAXS) and wide-an-le X-ray scattering (WAXS). SAXS results indicate that, under isothermal annealing conditions, the formation and growth of Bi or Ag nanoclusters embedded in sodium borate glass occurs through two successive stages after a short incubation period. The first stage is characterized by the nucleation and growth of spherical metal clusters promoted by the diffusion of Bi or Ag atoms through the initially supersaturated glass phase. The second stage is named the coarsening stage and occurs when the (Bi- or Ag-) doping level of the vitreous matrix is close to the equilibrium value. The experimental results demonstrated that, at advanced stages of the growth process, the time dependence of the average radius and density number of the clusters is in agreement with the classical Lifshitz-Slyozov-Waoner (LSW) theory. However, the radius distribution function is better described by a lognormal function than by the function derived from the theoretical LSW model. From the results of SAXS measurements at different temperatures, the activation energies for the diffusion of Ag and Bi through sodium borate glass were determined. In addition, via combination of the results of simultaneous WAXS and SAXS measurements at different temperatures, the crystallographic structure and the dependence of melting temperature T(m) on crystal radius R of Bi nanocrystals were established. The experimental results indicate that T(m) is a linear and decreasing function of nanocrystal reciprocal radius 1/R, in agreement with the Couchman and Jesser theoretical model. Finally, a weak contraction in the lattice parameters of Bi nanocrystals with respect to bulk crystals was established.

A review of the tectonic evolution of the Sunsas belt, SW Amazonian Craton

The Sunsas-Aguapei province (1.20-0.95 Ga), SW Amazonian Craton, is a key area to study the heterogeneous effects of collisional events with Laurentia, which shows evidence of the Grenvillian and Sunsas orogens. The Sunsas orogen, characterized by an allochthonous collisional-type belt (1.11-1.00 Ga), is the youngest and southwestern most of the events recorded along the cratonic fringe. Its evolution occurred after a period of long quiescence and erosion of the already cratonized provinces (>1.30 Ga), that led to sedimentation of the Sunsas and Vibosi groups in a passive margin setting. The passive margin stage was roughly contemporary with intraplate tectonics that produced the Nova Brasilandia proto-oceanic basin (<1.21 Ga), the reactivation of the Ji-Parana shear zone network (1.18-1.12 Ga) and a system of aborted rifts that evolved to the Huanchaca-Aguapei basin (1.17-1.15 Ga). The Sunsas belt is comprised by the metamorphosed Sunsas and Vibosi sequences, the Rincon del Tigre mafic-ultramafic sill and granitic intrusive suites. The latter rocks yield epsilon(Nd(t)) signatures (-0.5 to -4.5) and geochemistry (S,1, A-types) suggesting their origin associated with a continental arc setting. The Sunsas belt evolution is marked by ""tectonic fronts"" with sinistral offsets that was active from c. 1.08 to 1.05 Ga, along the southern edge of the Paragua microcontinent where K/Ar ages (1.27-1.34 Ga) and the Huanchaca-Aguapei flat-lying cover attest to the earliest tectonic stability at the time of the orogen. The Sunsas dynamics is coeval with inboard crustal shortening, transpression and magmatism in the Nova Brasilandia belt (1.13-1.00 Ga). Conversely, the Aguapei aulacogen (0.96-0.91 Ga) and nearby shear zones (0.93-0.91 Ga) are the late tectonic offshoots over the cratonic margin. The post-tectonic to anorogenic stages took place after ca. 1.00 Ga, evidenced by the occurrences of intra-plate A-type granites, pegmatites, mafic dikes and sills, as well as of graben basins. Integrated interpretation of the available data related to the Sunsas orogen supports the idea that the main nucleus of Rodinia incorporated the terrains forming the SW corner of Amazonia and most of the Grenvillian margin, as a result of two independent collisional events, as indicated in the Amazon region by the Ji-Parana shear zone event and the Sunsas belt, respectively. (C) 2009 Elsevier Ltd. All rights reserved.

Synthesis of 4-iodopyrazoles: A Brief Review

The selective incorporation of halogen into organic molecules provides a challenge to academic and industrial research. This microreview presents an overview of the available methodologies for the synthesis of 4-iodopyrazoles, valuable precursors for the selective construction of highly functionalized organic molecules of synthetic and biological importance.

Pulp tissue from primary teeth: new source of stem cells

SHED (stem cells from human exfoliated deciduous teeth) represent a population of postnatal stem cells capable of extensive proliferation and multipotential differentiation. Primary teeth may be an ideal source of postnatal stem cells to regenerate tooth structures and bone, and possibly to treat neural tissue injury or degenerative diseases. SHED are highly proliferative cells derived from an accessible tissue source, and therefore hold potential for providing enough cells for clinical applications. In this review, we describe the current knowledge about dental pulp stem cells and discuss tissue engineering approaches that use SHED to replace irreversibly inflamed or necrotic pulps with a healthy and functionally competent tissue that is capable of forming new dentin.

Desmistificando os braquetes autoligáveis

Atualmente, os braquetes autoligáveis têm sido associados a tratamentos mais rápidos e eficazes, o que desperta a curiosidade em compará-los ao sistema convencional. Ao contrário dos braquetes tradicionais, os autoligáveis não necessitam de ligaduras, sejam elásticas ou metálicas. A literatura é farta em concluir que essa característica diminui, ostensivamente, a resistência do atrito durante as mecânicas de deslize. Além disso, existem alegações sobre a dimimuição da necessidade de extrações e de expansão maxilar com o uso desses acessórios. Portanto, o objetivo dessa revisão de literatura foi buscar os mais novos estudos a respeito dos aparelhos autoligáveis atualmente utilizados nos tratamentos ortodônticos, confirmando ou retificando as especulações vigentes.

Classe II divisão 1 associada à deficiência transversal maxilar. Tratamento com disjuntor tipo Hyrax e aparelho de Herbst: relato de caso clínico

A má oclusão de Classe II divisão 1 de Angle é, frequentemente, acompanhada da atresia maxilar. Esse problema transversal da maxila deve ser corrigido, sempre que possível, antes da correção anteroposterior, sendo que os aparelhos de expansão rápida são os mais utilizados para isso. Para a correção da Classe II, atualmente, os aparelhos funcionais fixos são os mais estudados e empregados, por serem aparelhos intrabucais e necessitarem de menor colaboração do paciente. O objetivo deste estudo é demonstrar a estabilidade dos resultados obtidos após seis anos de tratamento com expansor tipo Hyrax, seguido do aparelho funcional fixo de Herbst e aparelho fixo. Após uma revisão da literatura, será apresentado um caso clínico, com atresia maxilar e má oclusão de Classe II divisão 1, tratado com essa terapia. O tratamento foi realizado em um curto período de tempo, com resultados funcionais e estéticos satisfatórios e mantidos ao longo dos anos.

Manipulação do genoma humano: ética e direito

A biologia molecular tem fornecido as ferramentas básicas para os geneticistas se aprofundarem nos mecanismos moleculares que influem na variação das doenças. Deve-se destacar a responsabilidade científica e moral dos pesquisadores, uma vez que os cientistas devem imaginar as consequências morais da aplicação comercial de testes genéticos, já que esse fato envolve não só o indivíduo e suas famílias, mas toda a população. Além de ser preciso, também, fazer uma reflexão sobre como essas informações do genoma humano serão utilizadas, para o bem ou mal. O objetivo desta revisão foi trazer à luz do conhecimento dados sobre características éticas da aplicação da biologia molecular, relacionando-a com os direitos do ser humano. Após análise bibliográfica, pôde-se observar que o Projeto Genoma Humano gerou várias possibilidades, como identificação de genes associados a doenças com propriedades sinergísticas, mas modificando às vezes comportamentos ao intervir geneticamente no ser humano, trazendo benefícios ou malefícios sociais. O grande desafio é decidir o que a humanidade pretende em relação a este gigantesco salto.

Variáveis relevantes no tratamento da má oclusão de Classe II

Os resultados do tratamento da má oclusão de Classe II podem ser influenciados por características que são inerentes ao paciente - como a idade, a severidade da má oclusão e o grau de colaboração - ou, ainda, por fatores relacionados à conduta do profissional - como a escolha do protocolo de tratamento. Basicamente, o tratamento da Classe II pode ser realizado sem extrações ou com extrações de dois ou quatro pré-molares. Contudo, uma maior proporção de sucesso do tratamento pode ser esperada com extrações de dois pré-molares superiores, independentemente do padrão facial e da relação maxilomandibular. Considerando esta revisão, pôde-se concluir que os resultados oclusais do tratamento da Classe II são fortemente influenciados pelo protocolo de tratamento, enquanto o padrão facial não parece exercer uma influência significativa.