FECHAMENTO DE DIASTEMAS: UMA INTEGRAÇÃO ENTRE ORTODONTIA E DENTíSTICA RESTAURADORA

Será discutido neste trabalho o relato de caso clínico, em que o paciente FM, sexo masculino, 20 anos de idade, iniciou o tratamento ortodôntico para correção da falta de vestibularização dos incisivos superiores, distemas entre os caninos e prémolares superiores e desvio de linha média. O tratamento ortodôntico foi concluído em 9 meses e como conseqüência, houve ganho de espaço na arcada superior e abertura de diastemas entre os incisivos, fato qual já fazia parte do planejamento do caso. Os espaços eram de aproximadamente 1,5mm entre os laterais e caninos superiores. O paciente foi encaminhado para o curso de especialização em Dentistica Restauradora para que fosse realizado o procedimento restaurador estético. Foi realizado um mock up, e a partir deste ensaio os diastemas foram fechados com resinas nanoparticuladas para que fosse devolvida a proporcionalidade do sorriso. Com isso, a integração dentística/ortodontia pode devolver a harmonia de forma rápida e conservadora, garantindo ótimos resultados e com a satisfação tanto do paciente quanto dos profissionais envolvidos no trabalho

ESTs from a wild Arachis species for gene discovery and marker development

BACKGROUND: Due to its origin, peanut has a very narrow genetic background. Wild relatives can be a source of genetic variability for cultivated peanut. In this study, the transcriptome of the wild species Arachis stenosperma accession V10309 was analyzed. RESULTS: ESTs were produced from four cDNA libraries of RNAs extracted from leaves and roots of A. stenosperma. Randomly selected cDNA clones were sequenced to generate 8,785 ESTs, of which 6,264 (71.3%) had high quality, with 3,500 clusters: 963 contigs and 2537 singlets. Only 55.9% matched homologous sequences of known genes. ESTs were classified into 23 different categories according to putative protein functions. Numerous sequences related to disease resistance, drought tolerance and human health were identified. Two hundred and six microsatellites were found and markers have been developed for 188 of these. The microsatellite profile was analyzed and compared to other transcribed and genomic sequence data. CONCLUSION: This is, to date, the first report on the analysis of transcriptome of a wild relative of peanut. The ESTs produced in this study are a valuable resource for gene discovery, the characterization of new wild alleles, and for marker development. The ESTs were released in the [GenBank:EH041934 to EH048197]

Fungal peritonitis in peritoneal dialysis patients: is previous antibiotic therapy an essential condition?

The aim of this study was to analyse the clinical and microbiological features of fungal peritonitis, in chronic peritoneal dialysis patients, focusing on non-traditional risk factors for this feared complication. From 2001 to 2004, five episodes of fungal peritonitis were diagnosed in five different patients, accounting for 4.5% of all peritonitis cases seen during this period. Candida spp. were the most frequent isolates. In all cases, peritoneal dialysis catheter removal and switching to haemodialysis were necessary. In these five cases of fungal peritonitis only one was preceded by antibiotic use, within the previous 3 months, the classical risk factor for fungal peritonitis. Identifying predisposing factors usually not taken into account, may lead to an early diagnosis and to a better understanding of fungal peritonitis pathogenesis.info:eu-repo/semantics/publishedVersio

Development of molecular markers for resistance gene analogs in wild Arachis spp.

O maior grupo de genes de resistência de plantas já clonados codifica para proteínas com um sítio de ligação a nucleotídios (NBS) na região N-terminal, e um domínio rico em repetições de leucina (LRR) na região C-terminal. Genes desta classe conferem resistência a diversos patógenos incluindo vírus, bactérias, fungos e nematóides. Para diferentes espécies do gênero Arachis, primers de "polymerase chain reaction" (PCR) degenerados foram construídos para a região NBS, e o produto de tradução putativo indicou similaridade com proteínas de resistência conhecidas sendo denominados análogos a genes de resistência (RGAs). Doze destes RGAs foram utilizados para o desenvolvimento de marcadores moleculares baseados em seus padrões de hibridização com DNA de Arachis spp. digerido com enzimas de restrição. Inicialmente, avaliou-se o polimorfismo de cada RGA como sonda nos parentais de uma população de mapeamento, contrastantes quanto à resistência as manchas foliares e nematóides das galhas, e no híbrido F1. Os RGAs, mesmo isolados de espécies diferentes do gênero Arachis apresentaram homologia com o DNA das espécies testadas, além de apresentarem múltiplas cópias e alto polimorfismo na progênie F2. Todas estas características tornam estes RGAs marcadores moleculares altamente informativos, sendo que alguns apresentaram segregação em "clusters" na F2, indicando que seus locos estão ligados. Estes marcadores serão incluídos em um mapa genético de Arachis spp., o que será de grande utilidade para os programas de melhoramento do amendoim (Arachis hypogaea) cultivado.The majority of cloned plant pathogen resistance genes (R genes) encode a putative nucleotide binding site (NBS) domain and a leucine-rich repeat (NBS-LRR genes). Genes of this NBS-LRR class confer resistance to diverse pathogens such as viruses, bacteria, fungi, nematodes and aphids. The conserved NBS domain was used to generate resistance gene analogues (RGAs) fragments by polymerase chain reaction (PCR) using degenerated primers in different Arachis species. Twelve of these RGAs were used to develop molecular markers based on their patterns of hybridisation to restricted Arachis spp. DNA. An initial step was the evaluation of the polymorphism generated by each RGA in genomic fragments of contrasting parents of a mapping population that segregates for resistance to leaf spot and nematodes, and of the F1 hybrid. The RGAs isolated from different Arachis species showed high homology to the DNA of the parents and hybrid, multiple copies in the genome and high polymorphism in the F2 generation. Therefore, they were considered highly informative markers, with some segregating in clusters in the F2. These RGAs will be included in the Arachis genetic map, which will be of paramount importance for the Arachis spp. breeding programs

Telomere length and epigenetic age acceleration in adolescents with anxiety disorders

Evidence on the relationship between genetics and mental health are flourishing. However, few studies are evaluating early biomarkers that might link genes, environment, and psychopathology. We aimed to study telomere length (TL) and epigenetic age acceleration (AA) in a cohort of adolescents with and without anxiety disorders (N = 234). We evaluated a representative subsample of participants at baseline and after 5 years (n = 76) and categorized them according to their anxiety disorder diagnosis at both time points: (1) control group (no anxiety disorder, n = 18), (2) variable group (anxiety disorder in one evaluation, n = 38), and (3) persistent group (anxiety disorder at both time points, n = 20). We assessed relative mean TL by real-time quantitative PCR and DNA methylation by Infinium HumanMethylation450 BeadChip. We calculated AA using the Horvath age estimation algorithm and analyzed differences among groups using generalized linear mixed models. The persistent group of anxiety disorder did not change TL over time (p = 0.495). The variable group had higher baseline TL (p = 0.003) but no accelerated TL erosion in comparison to the non-anxiety control group (p = 0.053). Furthermore, there were no differences in AA among groups over time. Our findings suggest that adolescents with chronic anxiety did not change telomere length over time, which could be related to a delay in neuronal development in this period of life

A linkage map for the B-genome of Arachis (Fabaceae) and its synteny to the A-genome

<p>Abstract</p> <p>Background</p> <p><it>Arachis hypogaea </it>(peanut) is an important crop worldwide, being mostly used for edible oil production, direct consumption and animal feed. Cultivated peanut is an allotetraploid species with two different genome components, A and B. Genetic linkage maps can greatly assist molecular breeding and genomic studies. However, the development of linkage maps for <it>A. hypogaea </it>is difficult because it has very low levels of polymorphism. This can be overcome by the utilization of wild species of <it>Arachis</it>, which present the A- and B-genomes in the diploid state, and show high levels of genetic variability.</p> <p>Results</p> <p>In this work, we constructed a B-genome linkage map, which will complement the previously published map for the A-genome of <it>Arachis</it>, and produced an entire framework for the tetraploid genome. This map is based on an F₂population of 93 individuals obtained from the cross between the diploid <it>A. ipaënsis </it>(K30076) and the closely related <it>A. magna </it>(K30097), the former species being the most probable B genome donor to cultivated peanut. In spite of being classified as different species, the parents showed high crossability and relatively low polymorphism (22.3%), compared to other interspecific crosses. The map has 10 linkage groups, with 149 loci spanning a total map distance of 1,294 cM. The microsatellite markers utilized, developed for other <it>Arachis </it>species, showed high transferability (81.7%). Segregation distortion was 21.5%. This B-genome map was compared to the A-genome map using 51 common markers, revealing a high degree of synteny between both genomes.</p> <p>Conclusion</p> <p>The development of genetic maps for <it>Arachis </it>diploid wild species with A- and B-genomes effectively provides a genetic map for the tetraploid cultivated peanut in two separate diploid components and is a significant advance towards the construction of a transferable reference map for <it>Arachis</it>. Additionally, we were able to identify affinities of some <it>Arachis </it>linkage groups with <it>Medicago truncatula</it>, which will allow the transfer of information from the nearly-complete genome sequences of this model legume to the peanut crop.</p

Identification of candidate genome regions controlling disease resistance in Arachis

<p>Abstract</p> <p>Background</p> <p>Worldwide, diseases are important reducers of peanut (<it>Arachis hypogaea</it>) yield. Sources of resistance against many diseases are available in cultivated peanut genotypes, although often not in farmer preferred varieties. Wild species generally harbor greater levels of resistance and even apparent immunity, although the linkage of agronomically un-adapted wild alleles with wild disease resistance genes is inevitable. Marker-assisted selection has the potential to facilitate the combination of both cultivated and wild resistance loci with agronomically adapted alleles. However, in peanut there is an almost complete lack of knowledge of the regions of the <it>Arachis </it>genome that control disease resistance.</p> <p>Results</p> <p>In this work we identified candidate genome regions that control disease resistance. For this we placed candidate disease resistance genes and QTLs against late leaf spot disease on the genetic map of the A-genome of <it>Arachis</it>, which is based on microsatellite markers and legume anchor markers. These marker types are transferable within the genus <it>Arachis </it>and to other legumes respectively, enabling this map to be aligned to other <it>Arachis </it>maps and to maps of other legume crops including those with sequenced genomes. In total, 34 sequence-confirmed candidate disease resistance genes and five QTLs were mapped.</p> <p>Conclusion</p> <p>Candidate genes and QTLs were distributed on all linkage groups except for the smallest, but the distribution was not even. Groupings of candidate genes and QTLs for late leaf spot resistance were apparent on the upper region of linkage group 4 and the lower region of linkage group 2, indicating that these regions are likely to control disease resistance.</p

The CAG repeat at the Huntington disease gene in the Portuguese population : insights into its dynamics and to the origin of the mutation

Huntington disease (HD) is caused by an expansion of a CAG repeat. This repeat is a dynamic mutation that tends to undergo intergenerational instability. We report the analysis of the CAG repeat in a large population sample (2,000 chromosomes) covering all regions of Portugal, and a haplotype study of (CAG)n and (CCG)n repeats in 140 HD Portuguese families. Intermediate class 2 alleles represented 3.0% of the population; and two expanded alleles (36 and 40 repeats, 0.11%) were found. There was no evidence for geographical clustering of the intermediate or expanded alleles. The Portuguese families showed three different HD founder haplotypes associated with 7-, 9- or 10-CCG repeats, suggesting the possibility of different origins for theHDmutation among this population. The haplotype carrying the 7-CCG repeat was the most frequent, both in normal and in expanded alleles. In general, we propose that three mechanisms, occurring at different times,may lead to the evolution from normal CAGs to full expansion: first, a mutation bias towards larger alleles; then, a stepwise process that could explain the CAGdistributions observed in themore recent haplotypes; and, finally, a pool of intermediate (class 2) alleles more prone to give rise to expanded HD alleles.Fundação para a Ciência e a Tecnologia (FCT) - SFRH/BD/9759/ 2003.Instituto de Genética Médica Jacinto Magalhães

Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: a case report

<p>Abstract</p> <p>Introduction</p> <p>Incontinentia pigmenti or Bloch-Sulzberger syndrome is a rare X-linked dominant disease that mainly affects the skin, eyes, hair, central nervous system and teeth. The disease is predominant among women. Although dermatologic manifestations are among the most important aspects for the diagnosis of the syndrome, they are less damaging to the patient and do not require treatment. However, oral involvement characterized by hypodontia of deciduous and permanent teeth is important for the diagnosis and treatment of the patient.</p> <p>Case presentation</p> <p>We report the case of a 3-year-old girl with ophthalmologic and neurologic disturbances, cutaneous manifestations and hypodontia. Since the patient did not present more damaging manifestations such as neurologic and/or ophthalmologic problems, her most severe complications were related to dental anomalies. The importance of integrated dental treatment, which combines pediatric dentistry, orthodontics and conventional prosthesis, is emphasized.</p> <p>Conclusion</p> <p>Hypodontia is a frequent finding in incontinentia pigmenti, and dentists should be aware of this condition in order to help with the diagnosis.</p