Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share a highly conserved helix-turn-helix DNA-binding domain and a less conserved protein-binding domain. Most IRFs regulate the expression of interferon-alpha and -beta after viral infection(1), but the function of IRF6 is unknown. The gene encoding IRF6 is located in the critical region for the Van der Woude syndrome (VWS; OMIM 119300) locus at chromosome 1q32-q41 (refs 2,3). The disorder is an autosomal dominant form of cleft lip and palate with lip pits(4), and is the most common syndromic form of cleft lip or palate. Popliteal pterygium syndrome (PPS; OMIM 119500) is a disorder with a similar orofacial phenotype that also includes skin and genital anomalies(5). Phenotypic overlap(6) and linkage data(7) suggest that these two disorders are allelic. We found a nonsense mutation in IRF6 in the affected twin of a pair of monozygotic twins who were discordant for VWS. Subsequently, we identified mutations in IRF6 in 45 additional unrelated families affected with VWS and distinct mutations in 13 families affected with PPS. Expression analyses showed high levels of Irf6 mRNA along the medial edge of the fusing palate, tooth buds, hair follicles, genitalia and skin. Our observations demonstrate that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia.

Edaphic characterization of a forest savanna ecotone in southeastern Brazil

Edaphic characterization of a forest savanna ecotone in southeastern Brazil. This study was motivated by the scarcity of studies involving descriptions of edaphic horizons in the transition from savanna to forest. It aims at comparing the chemical features and the texture of savanna and forest soils in one ecotone, and at considering possible edaphic influences on vegetation. In areas pertaining to the Botanical Garden of Bauru, State of São Paulo, two-meter deep pits were opened in different parts of a seasonal semi-deciduous forest and of a forested savanna to directly collect soil samples in different horizons. The physicochemical analysis revealed high contents of different nutrients, e.g., Ca and Mg, and low contents of Al in the superficial horizons of the seasonal forest, which were classified as eutrophic. Conversely, all the forested savanna horizons were considered as dystrophic. These edaphic features may be due to the different microenvironments of the studied phytocenoses.

Análise morfológica da corrosão por pites em aço inoxidável austenítico AISI 310S submetido à exposição em névoa salina

O artigo teve como objetivo estudar a evolução do crescimento, distribuição e classificação dos pites em aços inoxidáveis austeníticos AISI 310S no estado como recebida e tratado termicamente, submetidos a diferentes tempos de exposição em meio salino. A aplicabilidade deste trabalho baseou-se no desenvolvimento de uma técnica para caracterização morfológica da corrosão localizada, associado com os aspectos de descrição de formas, tamanho, parâmetros específicos e populacionais. A metodologia consistiu nas seguintes etapas: preparação dos corpos de prova, testes de corrosão via névoa salina em diferentes condições, análise microestrutural, análise dos perfis dos pites, processamento digital e análise de imagens, visando caracterizar a distribuição, morfologia e o tamanho dos pites. Os resultados obtidos no processamento digital e análise de imagens dos perfis foram submetidos á análise estatística, utilizando à mediana como parâmetro de avaliação na liga como recebido e tratada. A liga como recebido, exibe a seguinte morfologia: pites hemisféricos> região de transição A> região de transição B> irregulares> cônicos. A quantidade de pites na liga tratada a cada tempo de exposição é: região de transição B> hemisféricos> região de transição A> cônicos> irregulares.

Impact of coal mining on water quality of three artificial lakes in Morozini River Basin (Treviso, Santa Catarina State, Brazil)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Caracterização e classificação de solos em uma topossequência sobre calcário na serra da Bodoquena, MS

A serra da Bodoquena, localizada no Estado do Mato Grosso do Sul, apresenta particularidades nos seus solos, que diferem de outras regiões do bioma cerrado-pantanal. Este trabalho teve como objetivo ampliar o conhecimento dos solos formados sobre calcário, por meio da caracterização dos seus atributos físicos, químicos, mineralógicos e da matéria orgânica. Foi selecionada uma topossequência sobre calcário, onde foram abertas trincheiras no topo (P1), terço inferior (P2), sopé (P3) e baixada (P4 e P5). Os perfis foram descritos morfologicamente e analisados os atributos físicos, químicos e mineralógicos dos horizontes. de acordo com o Sistema Brasileiro de Classificação de Solos, os solos estudados foram classificados como: (P1) Organossolo Fólico Sáprico lítico - OOs; (P2) Chernossolo Háplico Órtico típico - MXo; (P3) Chernossolo Argilúvico Órtico típico - MTo; (P4) Gleissolo Melânico Carbonático chernossólico - GMk1; e (P5) Gleissolo Melânico Carbonático organossólico - GMk2. Todos os perfis estudados apresentaram cores escuras nos horizontes superficiais e mais avermelhadas ou acinzentadas em profundidade, em razão da drenagem, sempre associados com elevados valores de saturação por bases e tendo o cálcio como cátion predominante no complexo sortivo. Das frações húmicas, a humina representou a maior fração do carbono orgânico em todos os solos. A análise mineralógica constatou a presença de calcita na fração areia nos perfis GMk1 e GMk2 e caulinita, illita e montmorilonita, na fração argila de todos os solos. A ocorrência do Organossolo Fólico em ambiente não altimontano, diferente do relatado pelo Sistema Brasileiro de Classificação de Solos, sugere maior amplitude das condições ambientais para a ocorrência dessa subordem.

Produção de mudas de essências florestais em diferentes substratos e acompanhamento do desenvolvimento em campo

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Placentation in the rock cavy, Kerodon rupestris (Wied)

Rock cavies are rodents found in the semi-arid caatinga of Brazil. We studied the structure of the rock cavy placenta by light and transmission electron microscopy. The exchange area of the labyrinth was organized in lobes separated by interlobular areas. The interhaemal barrier was syncytial haemomonochorial. The syncytiotrophoblast had recesses in the basal membrane and some invaginations of the apical membrane, but transtrophoblastic channels could not be found. The interlobular regions comprised syncytiotrophoblast, enclosing maternal venous blood channels, and cytotrophoblast. There was a prominent subplacenta composed of cytotrophoblast and syncytiotrophoblast. Microvilli projected into spaces between the cytotrophoblasts and into lacunae within the syncytiotrophoblast. The yolk sac epithelium exhibited coated pits, endocytotic vesicles and larger vacuoles, consistent with a role in protein uptake from the uterine lumen. Tight junctions between these cells provided a barrier to diffusion by the intercellular route. The reproductive biology of the rock cavy differs from other members of the family, including the guinea pig, but the architecture of the placenta remains remarkably constant. (c) 2004 Elsevier Ltd. All rights reserved.

Comparative wood anatomy of root and stem in Styrax camporum (Styracaceae)

Styrax camporum Pohl is a shrub common in the cerrado vegetation of south-eastern Brazil. Root and stem wood in Styrax camporum differ quantitatively and qualitatively. Quantitative differences follow normal expectations: roots have wider and longer vessel elements, a lower vessel frequency, a lower ray frequency, and wider rays. Qualitative features of the roots are: simple perforation plates, vestured pits, and septate libriform fibres; qualitative features of the stems are: multiple perforation plates, non-vestured pits, and non-septate fibre-tracheids. Based on generally accepted evolutionary trends, root wood of Styrax camporum has more specialized features than stem wood. Additional comparative studies of stem and root anatomy are needed to determine if such differences between root and stem anatomy are widespread, and consistent with the lines of specialization observed in monocotyledons.

Resin-based composite reinforced sealant

Purpose: To describe and picture a technique for using a resin-bonded sealant reinforced by inclusion of resin-based composite, before polymerization. Method: Using an extracted mandibular molar, embedded in plaster and isolated with a rubber dam, a step-by-step depiction of the technique is shown. Results: A picture of a six-year-old sealant in a first permanent molar, still in perfect condition, is shown. Conclusion: This technique offers a reliable method for treating pits and fissures.

An image processing method for morphology characterization and pitting corrosion evaluation

A digital image processing and analysis method has been developed to classify shape and evaluate size and morphology parameters of corrosion pits. This method seems to be effective to analyze surfaces with low or high degree of pitting formation. Theoretical geometry data have been compared against experimental data obtained for titanium and aluminum alloys subjected to different corrosion tests. (C) 2002 Elsevier B.V. B.V. All rights reserved.

Development of Intra- and Interxylary Secondary Phloem in Coccinia indica (Cucurbitaceae)

Stern anatomy and the development of intraxylary phloem were investigated in six to eight years old Coccinia indica L. (Cucurbitaceae). Secondary growth in the stems was achieved by the normal cambial activity. In the innermost part of the thicker stems, xylem parenchyma and pith cells dedifferentiated into meristematic cells at several points. In some of the wider rays, ray cells dedifferentiate and produce secondary xylem and phloem with different orientations and sometimes a complete bicollateral vascular bundle. The inner cambial segments of the bicollateral vascular bundle (of primary growth) maintained radial arrangement even in the mature stems but in most places the cambia were either inactive or showed very few cell divisions. Concomitant with the obliteration and collapse of inner phloem (of bicollateral vascular bundles), parenchyma cells encircling the phloem became meristematic forming a circular sheath of internal cambia. These internal cambia produce only intraxylary secondary phloem centripetally and do not produce any secondary xylem. In the stem, secondary xylem consisted mainly of axial parenchyma, small strands of thick-walled xylem derivatives, i.e. vessel elements and fibres embedded in parenchymatous ground mass, wide and tall rays along with exceptionally wide vessels characteristic of lianas. In thick stems, the axial parenchyma de-differentiated into meristem, which later re-differentiated into interxylary phloem. Fibre dimorphism and pseudo-vestured pits in the vessels are also reported.

Jarosite pseudomorph formation from arsenopyrite oxidation using Acidithiobacillus ferrooxidans

In this work, the oxidizing action of a native strain type A. ferrooxidans on a sulphide containing a predominance of arsenopyrite and pyrite has been evaluated. Incubation of the A. ferrooxidans strain in flasks containing 200 mL of T&K medium with the ore (particle size of 106 mu m) at pulp density 8% (w/v) at 35 degrees C on a rotary shaker at 200 rpm resulted in preferential oxidation of the arsenopyrite and the mobilization of 88% of the arsenic in 25 days. Mineralogical characterization of the residue after biooxidation was carried out with FTIR. XRD and SEM/XEDS techniques. An in situ oxidation of the arsenopyrite is suggested on the basis of the frequent appearance of jarosite pseudomorph replacing arsenopyrite, in which the transformations Fe(2+) -> Fe(3+), S(-2) -> S(+6) and As(-1) -> As(+3) -> As(+5) occur for the most part without formation of soluble intermediates, resulting in a type of jarosite that typically contains high concentrations of arsenic (type A-jarosite). However, during pyrite oxidation, dissolution of the constituent Fe and S predominates, which is evidenced by corrosion of pyrite particles with formation of pits, generating a type of jarosite with high quantities of K (type B-jarosite). Lastly, a third type of jarosite (type C-jarosite) also precipitated forming a thin film that covered the grains of pyrite principally. (C) 2010 Elsevier B.V. All rights reserved.

Gorlin-Goltz Syndrome and Neoplasms: A Case Study

Gorlin syndrome is a rare autosomal dominant disorder exhibiting high penetrance and variable expressivity. It is characterized by facial dysmorphism, skeletal anomalies, multiple basal cell carcinomas, odontogenic keratocysts (OKC), palmar and plantar pits, bifid ribs, vertebral anomalies and a variety of other malformations. Various neoplasms', such as medulloblastomas, meningiomas, ovarian and cardiac fibromas are also found in this syndrome. Objective: To describe a twelve-year-old patient with Gorlin-Goltz syndrome, with basal cell carcinomas and promyelocytic leukemia developed after receiving craniospinal radiation for a medulloblastoma. Mild ribs as well as mandibular and maxillar OKC were also diagnosed. Conclusion: The patient with Gorlin-Goltz syndrome should receive close follow-up for early detection of malformations and malignant neoplasias.

Evaluation of 316L Stainless Steel Corrosion Resistance in Solution Simulating the Acid Hydrolysis of Biomass

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

Morphological changes in the cephalic salivary glands of females and males of Apis mellifera and Scaptotrigona postica (Hymenoptera, Apidae)

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