Cornelia de Lange Syndrome and orofacial implications

Background and objective: Cornelia de Lange syndrome is a rare disease with a very wide and genetically heterogeneous phenotypic variability that affects multiple organs and systems. This work consists of a narrative review on Cornelia de Lange syndrome, specifically addressing its orofacial manifestations and the impact of these changes on dentistry. Methods: For the bibliographic search, the following databases were used: PubMed Central (PMC), Online Knowledge Library (B-ON), Cochrane Library and Scientific Electronic Library Online (SciELO), as well as Google Scholar. The keywords used in English and Portuguese, were Cornelia de Lange syndrome, Brachmann de Lange, dental manifestations. Results: So far, pathogenic mutations have been identified in five genes: NIPBL, SMC1A, SMC3, RAD21 and HDAC8. The diagnosis of most children is usually obvious at birth. Brachycephaly and synophry are characteristics present in all children with Cornelia de Lange syndrome, being also common the presence of mental retardation. Frequent manifestations include excess facial hair and generalized hirsutism, unusually long curly upper and lower eyelashes. Small, spaced teeth with delayed eruption, partial anodontia, thin upper lip, depressed corners of the mouth, and occasionally arched or cleft palate may also be present. Conclusion: The multidisciplinary strategy is the key to treatment success. It is important to provide the family with information about the syndrome, which can help parents to cope emotionally with the situation and cooperate in the treatment of their child.info:eu-repo/semantics/publishedVersio

Genetic and environmental factors involved in the development of oral malformations such as cleft lip/palate in non-syndromic patients and open bite malocclusion

Among the most common malformations observed in the oral cavity are cleft lip/palate and malocclusions, being this last one considered by the World Health Organization, the third public health problem. Malocclusions include the anterior open bite, a change in the vertical plane, that can be of two types: dental anterior open bite and skeletal anterior open bite. Cleft lip and cleft palate are the most common congenital malformations at birth. These malformations result from a failure in the normal craniofacial development process, which requires the coordination of a complex series of events. From the embryological point of view, the cleft lip/palate is a consequence of the failure of the first superior branchial arch to complete fusion with the frontonasal process during pregnancy. All these malformations result from the interaction of both genetic and environmental factors. Among the environmental factors involved in the development of malocclusions are deleterious habits, mouth breathing and trauma. Several genes involved in the development of facial bones, muscles and teeth are also responsible for the development of malocclusions. In the same way, clefts development is a multifactorial trait where multiple genes are involved as well as environmental factor like alcohol consumption, tobacco, exposure to pesticides or toxic solvents, in a complex interaction. All these factors may jeopardize the normal functioning of the stomatognathic system and the consequent quality of life of the patient. The purpose of this study was to review the literature concerning the genetic and environmental aspects involved in the development of these malformations.info:eu-repo/semantics/publishedVersio

Therapeutic phlebotomy

A sangria terapêutica é método paliativo de controle de sintomas, simples e antigo, que se mostra eficaz também a longo prazo, melhorando a expectativa e a qualidade de vida. Suas indicações ampliaram-se atualmente e pode ser combinada com outras modalidades terapêuticas. Pode ser utilizada no controle da hiperviscosidade sangüínea nas eritrocitoses, e para a remoção de produto metabólico ou de depósito, tóxicos ao organismo. No Hemocentro, em Ribeirão Preto, as retiradas por eritrocitose representam a grande maioria, sendo 42% póstransplante renal, 30% por doenças cardíacas e pulmonares e 15% por Policitemia Vera. As retiradas por produtos metabólicos e/ou tóxicos acumulados foram 9% na hemocromatose e 4% nas porfirias. Não foram notados efeitos colaterais e os valores alvo do hematócrito foram considerados adequados nas eritrocitoses. As retiradas periódicas levaram a bom controle sintomático dos pacientes. São feitas sugestões de estratégias de condutas, consideradas adequadas.Therapeutic phlebotomy is an old and simple way to relieve sintoms but can raize life spectancy and bring better quality of life. It is incrisingly indicated nowadays, alone or in combination with others therapeutic tools. It can be used to control high blood viscosity in polycythemias or washout of toxic metabolic products or iron in parenquimal cells. At Hemocentro, in Ribeirão Preto, polycythemias were the most common indication for bloodletting, 42% after kidney transplants, 30% by lung and heart diseases, and 15% by polycythemia vera. Toxic metabolic products motivated bloodletting in 9% by iron overload and 4% by porphyria. No adverse efects were noted, target hematocrits were considered adequate in polycythemias and periodic bloodletting exerced an effective control of symptoms. Sugestions were made for better medical practices

A multivalent chimeric vaccine composed of Schistosoma mansoni SmTSP-2 and Sm29 was able to induce protection against infection in mice

Schistosoma mansoni is a blood fluke parasite responsible for schistosomiasis. The best long-term strategy to control schistosomiasis is through immunization combined with drug treatment. In this study, we cloned, expressed and purified SmTSP-2 fused to the N- and C-terminal halves of Sm29 and tested these chimeras as vaccine candidates using an adjuvant approved to be used in humans. The results demonstrated that vaccination with SmTSP-2 fused to N- or C-terminus of Sm29-induced reduction in worm burden and liver pathology when compared to control animals. Additionally, we detected high levels of mouse-specific IgG, IgG1 and IgG2a against both chimeras and significant amounts of IFN-γ and TNF-α and no IL-4. Finally, studies with sera from patients resistant to infection and living in schistosomiasis endemic areas revealed high levels of specific IgG to both chimeras when compared to healthy individuals. In conclusion, SmTSP-2/Sm29 chimeras tested here induced partial protection against infection and might be a potential vaccine candidate

Hemoglobin Uptake by Paracoccidioides spp. Is Receptor-Mediated

Iron is essential for the proliferation of fungal pathogens during infection. The availability of iron is limited due to its association with host proteins. Fungal pathogens have evolved different mechanisms to acquire iron from host; however, little is known regarding how Paracoccidioides species incorporate and metabolize this ion. In this work, host iron sources that are used by Paracoccidioides spp. were investigated. Robust fungal growth in the presence of the iron-containing molecules hemin and hemoglobin was observed. Paracoccidioides spp. present hemolytic activity and have the ability to internalize a protoporphyrin ring. Using real-time PCR and nanoUPLC-MSE proteomic approaches, fungal growth in the presence of hemoglobin was shown to result in the positive regulation of transcripts that encode putative hemoglobin receptors, in addition to the induction of proteins that are required for amino acid metabolism and vacuolar protein degradation. In fact, one hemoglobin receptor ortholog, Rbt5, was identified as a surface GPI-anchored protein that recognized hemin, protoporphyrin and hemoglobin in vitro. Antisense RNA technology and Agrobacterium tumefaciensmediated transformation were used to generate mitotically stable Pbrbt5 mutants. The knockdown strain had a lower survival inside macrophages and in mouse spleen when compared with the parental strain, which suggested that Rbt5 could act as a virulence factor. In summary, our data indicate that Paracoccidioides spp. can use hemoglobin as an iron source most likely through receptor-mediated pathways that might be relevant for pathogenic mechanisms

Molecular Characterization of the Schistosoma mansoni Zinc Finger Protein SmZF1 as a Transcription Factor

Schistosomes are parasites that exhibit a complex life cycle during which they progress through many morphological and physiological transformations. These transformations are likely accompanied by alterations in gene expression, making genetic regulation important for parasite development. Here we describe a Schistosoma mansoni protein (SmZF1) that may act as a parasite transcription factor. These factors are key proteins for gene regulation. We have previously demonstrated that SmZF1 is able to bind DNA and that its mRNA is present at different stages during the parasite life cycle. In this study we aimed to define if this protein can function as a transcription factor in S. mansoni. SmZF1 was detected in the nucleus of adult male worms, cercariae and schistosomula cells. It was not, however, observed in female cells, suggesting it to be gender specific. We used mammalian cells expressing recombinant SmZF1 to analyze if SmZF1 protein is able to activate/repress gene transcription and demonstrated that it increased the expression of a reporter gene by two-fold. The results obtained confirm SmZF1 as a S. mansoni transcription factor

Educação Ambiental envolvendo o descarte de pilhas e baterias: uma ação do PIBID de Química na comunidade do Salobrinho

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Recognition of endophytic Trichoderma species by leaf-cutting ants and their potential in a Trojan-horse management strategy

Interactions between leaf-cutting ants, their fungal symbiont (Leucoagaricus) and the endophytic fungi within the vegetation they carry into their colonies are still poorly understood. If endophytes antagonistic to Leucoagaricus were found in plant material being carried by these ants, then this might indicate a potential mechanism for plants to defend themselves from leaf-cutter attack. In addition, it could offer possibilities for the management of these important Neotropical pests. Here, we show that, for Atta sexdens rubropilosa, there was a significantly greater incidence of Trichoderma species in the vegetation removed from the nests—and deposited around the entrances—than in that being transported into the nests. In a no-choice test, Trichoderma-infested rice was taken into the nest, with deleterious effects on both the fungal gardens and ant survival. The endophytic ability of selected strains of Trichoderma was also confirmed, following their inoculation and subsequent reisolation from seedlings of eucalyptus. These results indicate that endophytic fungi which pose a threat to ant fungal gardens through their antagonistic traits, such as Trichoderma, have the potential to act as bodyguards of their plant hosts and thus might be employed in a Trojan-horse strategy to mitigate the negative impact of leaf-cutting ants in both agriculture and silviculture in the Neotropics. We posit that the ants would detect and evict such ‘malign’ endophytes—artificially inoculated into vulnerable crops—during the quality-control process within the nest, and, moreover, that the foraging ants may then be deterred from further harvesting of ‘Trichoderma-enriched’ plants