49 resultados para Disfunção mitocondrial

em Universidade Federal do Rio Grande do Norte(UFRN)


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As disfunções temporomandibulares (DTM) representam a maior causa de dor não dentária da região orofacial. Dada sua alta prevalência na população em geral e a existência de inúmeros instrumentos diagnósticos não padronizados, buscou-se elaborar e validar um questionário simples, de acessibilidade ampla e aplicação prática, com vistas a contribuir para o diagnóstico e o estudo epidemiológico das mesmas. A estratégia utilizada na montagem do instrumento foi estabelecida com base na avaliação criteriosa de questionários já existentes na literatura, validação de expertos na área de DTM, validação fatorial, de face (na primeira fase do estudo) e, frente ao padrão ouro (RDC/TMD), na segunda fase do estudo. Na primeira fase, participaram 160 indivíduos. A consistência interna resultou num Coeficiente Alfa de Cronbach de 0,752 para o questionário com sete itens; enquanto que para o questionário com cinco itens, este resultado foi de 0,694, não sendo o mesmo, considerado baixo por avaliar apenas cinco questões e ainda, em razão do tema central da pesquisa ser bastante subjetivo. A análise fatorial confirmatória apontou para uma variância total dos fatores extraídos do questionário com sete itens, de 58,2 % e do questionário com cinco itens de 70,04%. Portanto, o questionário com cinco questões, apresentou resultados estatísticos superiores ao de sete questões. Na validação frente ao padrão ouro (RDC/TMD), foram avaliados 99 indivíduos tendo sido testados os dois questionários, com sete e com cinco questões. Na estrutura com sete questões, ao se categorizar as mesmas por totais de pontos obtidos, em quatro condições, obteve-se o melhor resultado quando se considerou com DTM a faixa entre 10 e 21 pontos, sendo 85,1% positivos também no RDC/TMD, com acurácia de 90,1% e Kappa 0,817. Nesta condição, a sensibilidade encontrada foi de 95% (IC 95%, 91 a 99), especificidade de 87% (IC 95%, 81 a 93), VPP 85%, VPN 96%, LR+ 7,3 e LR- 17,4. Quando os dados foram avaliados para o questionário com cinco questões (QST/DTM), pode-se observar que o melhor ponto de corte foi quando se considerou como portadores de DTM, os indivíduos na faixa entre 7 e 15 pontos, com acurácia de 85,8% e Kappa 0,817. Nesta condição, a sensibilidade foi 88% (IC 95%, 81,6 a 94,4), especificidade 84% (IC 95%, 76,8 a 91,2), VPP 80%, VPN 90,5%, LR+ 5,5 e LR- 7,0. A simplicidade do presente questionário (QST/DTM) com apenas cinco questões, possibilita seu uso como elemento de triagem inicial na área da dor orofacial em disfunção temporomandibular, com boa compreensibilidade, confiabilidade, reprodutibilidade e possibilidade de aplicação em pesquisas epidemiológicas. Concluiu-se que o questionário aqui validado, permite sua aplicação de forma simples tanto por profissionais e pesquisadores da Odontologia como de outras áreas da saúde

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Some studies reported in the literature that emotional factors and quality of life may be involved both in aetiology, as in the progression of Temporomandibular disorders (TMD). Proposition: The purpose of this study is to observe a possible association between different forms of anxiety, quality of life and general health of patients diagnosed as carriers of various types and levels of Temporomandibular Dysfunction. Methodology: The sample consisted of 60 patients diagnosed as carriers of TMJD origin of muscle, joint, or both, with different levels of severity (mild TMD, moderate and severe). The patients were diagnosed with TMD-RDC (Research Diagnostic Criteria) to assess the type of dysfunction (muscle or joint) and by the Protocol of Fonseca to verify the degree of dysfunction (mild, moderate or severe). To evaluate the psychosocial aspects were used three self-applied, with the purpose of obtaining information about the general health (General Health Questionnaire - GHQ), the type of anxiety (Trait Anxiety Inventory-State - STAI) and quality of life (World Health Organization Quality Of Life Short WHOQOL-brief). Results: There was a correlation between all indicators studied in several forms of TMD with varying degrees of commitment. Quality of life appeared linked to the type and the level of TMD: Muscular and Articular TMD (p = 0,037), Disk Displacement With Reduction (p = 0.01) and Mild TMD (p = 0.042). The General Health showed association with the level of TMD, with the exception of the stress factor (p = 0.78). For the analysis of the types and levels to Severe Muscular TMD had a statistically significant indicator of the quality of life (p = 0049). The anxiety only showed association with the level of TMD (p = 0,047 for anxiety-trait). Conclusion: Besides the limitations of the study, it was concluded that anxiety, quality of life and general health are important psychosocial indicators, which are linked to several forms of TMD in different levels of severity

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Even nowadays there is in Brasil a large number of edentulous and a precarious financial condition of most of the population. In addition, World Health Organization aims for oral health, which consists on the maintenance of a natural dentition, functional and aesthetic composed of at least 20 teeth, without need of prosthetic intervention throughout life. From this and considering the lack of researches about the permanence of edentulous spaces in the oral cavity, and also avoiding overtreatment, this research has been proposed. Thus, the aim was to evaluate the effect of different lengths of the shortened lower dental arch in the presence or absence of a removable partial denture (RPD) on masticatory function, quality of life and occurrence of temporomandibular dysfunction. To achieve this goal, we compared the masticatory efficiency (colorimetric test), the oral comfort through the analysis of the impact of oral health in quality of life (OHIP-14), the presence of temporomandibular dysfunction (RDC/TMD) and the general quality of life (WHOQOL) of patients with shortened dental arches (SDA) (n=60), which is an arch with a reduction of teeth starting posteriorly, and patients with complete dental arch (Complete DA) (n = 34). The group of patients whit SDA was divided among PPR wears (PPD + SDA) (n = 17) and non-wears (n = 43). The population of this study consisted on patients who received or looked for treatment at the clinics of the Department of Dentistry of UFRN, from clinical analysis and records. The sample was chosen by convenience. For statistical analysis, it was a database in SPSS 17.0, followed by descriptive analysis with frequencies, absolute values, tests of central tendency and variability. The statistical tests used were chi-squared and analysis of variance as well as Tukey s post test, when applicable, all with a 95% confidence level. The results shown a prevalence of TMD of 47,1% among patients using PRP and 69,8% among those who didn t, but this result wasn t statistically significant. The mean of the results of masticatory efficiency, WHOQOL and OHIP didn t show association to the presence or absence of PPR and to the lower number of occlusal units of the patients (0, 1, 2 or more occlusal). The association only occurred among the different groups of SDA and the patients with complete dental arch. Taking into account the results, it could be observed that studied patients with low posterior support using lower PRP didn t have better masticatory efficiency, general quality of life, less impacts of their oral conditions in quality of life or not even less temporomandibular dysfunction or better masticatory efficiency when compared to those who didn t use the prosthesis

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A disfunção sexual corresponde a alterações em uma ou mais fases da resposta sexual humana e apresenta maior prevalência na população feminina. Ademais, a participação de alguns fatores como obesidade e níveis dos hormônios esteroidais na disfunção sexual feminina (DSF) permanece incerta. O presente estudo deteve-se na análise da ocorrência de DSF numa população de mulheres portadoras de obesidade, cadastradas no Ambulatório de Cirurgia Bariátrica do Hospital Universitário Onofre Lopes, da Universidade Federal do Rio Grande do Norte, no município de Natal, RN. O estudo foi realizado em uma amostra composta por trinta e uma mulheres, com idade entre 20 e 50 anos, com índice de massa corpórea (IMC) > 30 Kg/m2. A todas as pacientes foi aplicado um questionário composto por uma seção com dados socio-econômicos, e outra abordando a saúde sexual feminina, sendo esta última correspondente ao Female Sexual Function Index (FSFI), para diagnóstico de DSF. A partir dessa caracterização, as pacientes foram reunidas nos grupos CD (pacientes com disfunção, n= 9) e SD (sem disfunção, n= 22). Para a análise do efeito da obesidade na DSF, as pacientes foram reunidas nos grupos 1 (6 pacientes com IMC grau I e II: entre 30 e 40 Kg/m2) e 2 (25 com IMC grau III: acima de 40). Para o estudo da participação dos hormônios esteroidais foram determinadas as concentrações séricas de cortisol, estradiol e dehidroepiandrosterona (DHEA) pelo método de quimiluminescência. A análise estatística dos dados foi realizada usando os testes ANOVA, MANOVA (Pillai), além de análise de Cluster. Para identificar as diferenças entre os domínios do FSFI, foi usado o teste T de Student. A significância considerada para todos os testes foi para p< 0,01. Das pacientes estudadas, 25,8% apresentaram DSF de acordo com o escore total do FSFI. A análise estatística posterior evidenciou que as diferenças ocorreram para os domínios desejo, excitação e orgasmo. Não foi encontrada relação da presença de DSF com os diferentes graus de obesidade ou com os níveis hormonais dos esteróides cortisol, estradiol ou DHEA. Contudo, foi encontrado aumento significativo nos níveis séricos de estradiol para o grupo 1, que corresponde ao de menor índice de IMC. Estes resultados mostram que a prevalência de DSF não diferiu entre os graus I,II e III de obesidade das pacientes deste estudo mas, quando presente, a disfunção ocorre nos domínios desejo, excitação e orgasmo. A maior concentração de estradiol encontrada nas pacientes de menor índice de IMC sugere uma possível relação entre as duas variáveis que precisa ser investigada em estudos futuros.

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The epidemiology of temporomandibular disorders varies widely in the literature. The aim of this study was to determine the prevalence of TMD in dental students of the Federal University of Rio Grande do Norte assessed by different indexes. The sample consisted of 101 individuals selected by a randomized process, whose general outline was systematic sampling. For evaluation of the signs and symptoms of TMD, an anamnestic index, Fonseca s protocol, and two clinical indexes, the RDC/TMD (Research Diagnostic Criteria for Temporomandibular Disorders), or standard index, and the Helkimo s Clinical Dysfunction Index were applied. Data were analyzed using the chi-square test and kappa, besides verifying the sensitivity and specificity (5% significance). The diagnosis of TMD by different indexes showed a variation in the prevalence between 72.3% (Helkimo s Clinical index), 64.4% (Fonseca s anamnestic index) and 35.6% (RDC/TMD). There was no statistical difference between the sexes for the RDC/TMD, although this difference was found for Fonseca s and Helkimo s indexes (p<0.05). The most frequent type of TMD were joint disorders (Groups II and III), and the subtypes disc displacement with reduction (17.8%) and arthralgia (15.8%). Most individuals showed a mild TMD (45.5%) for both indexes, Fonseca and Helkimo. When comparing the types of diagnoses, RDC/TMD with Fonseca and Helkimo, low agreement was found (k=0.17 and k= 0.35, respectively). A moderate correlation between the severity of TMD was obtained (kw= 0.53) for Fonseca s protocol and Helkimo s index. High sensitivity and low specificity were seen for both diagnoses compared to standard, resulting in excessive false positives. Within the limitations of the study, it was concluded that the prevalence of TMD can vary widely, depending on the index used for its diagnosis

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Objective: To evaluate the inter-relationship between TMD (temporomandibular disorder), depression and sleep disorder. Methods: This is a case-control study with questionnaires in 111 patients, allocated from the Dentistry Department of UFRN, Natal, Brazil, from September 2014 to June 2015, for evaluation of depressive symptoms through the BDI (Beck Depression Inventory); sleep disorder, the PSQI (Pittsburgh Sleep Quality Index) and DTM through the RDC / TMD (diagnostic criteria to search for DTM). All indexes were applied by a single examiner previously trained and calibrated. The collected data were analyzed with chi-square tests of Pearson (χ2) and the unconditional logistic regression. Results: women had a risk of 2.85 times more likely to develop TMD (p = 0.046). The OR (odds ratio) shows that sleep disturbance increases by 2.19 the chances of having TMD (p = 0.062) and depressive symptoms increase the risk by 3.16 times in developing dysfunction (p = 0.053). Conclusion: The data of this research allows us to conclude that patients with TMD, in this population, were more likely to develop changes in sleep and depressive symptoms.

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A síndrome de Cogan é entidade multissistêmica rara caracterizada por ceratite intersticial associada à disfunção áudio-vestibular e possível surdez irreversível classificada em duas formas clínicas: típica e atípica. Há discordância na literatura quanto à presença de acometimento corneano na forma atípica. Uma paciente de 32 anos queixando-se de hiperemia e dor ocular, fotofobia e baixa da acuidade visual no olho direito, associada à perda súbita de audição à esquerda, vômitos, diarréia, oligúria, dor na orofaringe e febre. História prévia de semelhante acometimento do olho esquerdo e audição direita. Havia intensa hiperemia conjuntival, esclerite nodular, episclerite e infiltrados circulares no estroma corneano. A paciente recebeu pulsoterapia com metilprednisolona e ciclofosfamida. Evoluiu com grande melhora ocular, porém com resposta auditiva pobre. O caso reportado pode constituir forma típica da síndrome de Cogan (de acordo com autores que defendem o nãoacometimento corneano na forma atípica) com alguns achados característicos da forma atípica ou um caso da forma atípica da síndrome de Cogan (para aqueles que defendem o acometimento corneano na forma atípica). O diagnóstico diferencial também é discutido

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Este estudo trata-se de revisão integrativa da literatura com objetivo de sintetizar o conhecimento produzido em artigos sobre os cuidados de enfermagem aos pacientes em pós-operatório de prostatectomia. Para seleção dos artigos foram consultadas cinco bases de dados – SCOPUS, CINAHL, PUBMED, LILACS e Cochrane – sendo incluídos dezenove artigos. Os resultados mostram estudos que se enquadram nos níveis II, IV, V, VI e VII de evidência, a maioria realizada nos Estados Unidos durante os anos de 1999 a 2011. Os cuidados de enfermagem identificados foram agrupados em seis categorias: acompanhamento psicológico, orientações pós-operatórias, tratamento da disfunção erétil, tratamento da incontinência urinária, tratamento da dor e tratamento da hiponatremia. Conclui-se que os estudos com maior nível de evidência identificado recomendam cuidados de enfermagem centrados no acompanhamento psicológico, nas orientações do período pós-operatório e no tratamento da disfunção erétil. Destaca-se ainda que tais recomendações concentram-se, sobretudo, nas ações de apoio emocional e educativo

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Analisar a associação estatística entre diagnósticos de enfermagem identifi cados nos pacientes transplantados renais e seus fatores sócio-econômicos. Estudo transversal realizado em um hospital universitário em Fortaleza-CE, no período compreendido entre dezembro de 2004 a abril de 2005. Foram identifi cados 38 diagnósticos de enfermagem. Dez diagnósticos apresentaram freqüências acima do percentil 75: Risco de infecção; percepção sensorial perturbada: visual; Padrão de sono perturbado; Nutrição desequilibrada: mais do que as necessidades corporais; Fadiga; Disfunção sexual; Percepção sensorial perturbada: audição; Dor aguda; Padrões de sexualidade inefi cazes; Risco de nutrição desequilibrada: mais do que as necessidades. O estudo sobre diagnósticos de enfermagem ajudou a expandir o conhecimento da realidade dos pacientes, o que é necessário para o estabelecimento de cuidados de enfermagem ao transplante renal, bem como para abordar os resultados que vierem a ser desenvolvidas com o objetivo de melhorar a qualidade de vida

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The coast of Rio Grande do Norte has more than 100 species of seaweed, mostly unexplored regarding their pharmacological potential. The sulfated polysaccharides (PS) are by far the more seaweed compounds studied, these present a range of biological properties, such as anticoagulant activity, anti-inflammatory, antitumor and antioxidant properties. In this study, we extract sulfated polysaccharide rich-extracts of eleven algae from the coast of Rio Grande do Norte (Dictyota cervicornis; Dictiopterys delicatula; Dictyota menstruallis; Dictyota mertensis; Sargassum filipendula; Spatoglossum schröederi; Gracilaria caudata; Caulerpa cupresoides; Caulerpa prolifera; Caulerpa sertularioides e Codim isthmocladum), and these were evaluated for the potential anticoagulant, antioxidant and antiproliferative. All polysaccharide extracts showed activity for anticoagulant, antioxidant and/or antiproliferative activity, especially D. delicatula and S. filipendula, which showed the most prominent pharmacological potential, thereby being chosen to have their sulfated polysaccharides extracted. By fractionating method were obtained six fractions rich in sulfated polysaccharides to the algae D. delicatula (DD-0,5V, DD-0, 7V, DD-1,0v, DD-1,3v, DD-1,5v and DD-2,0) and five fractions to the alga S. filipendula (SF-0,5V, SF-0,7V, SF-1,0v, SF-1,5v and SF-2,0v). For the anticoagulant assay only the fractions of D. delicatula showed activity, with emphasis on DD-1, 5v that presented the most prominent activity, with APTT ratio similar to clexane® at 0.1 mg/mL. When evaluated the antioxidant potential, all fractions showed potential in all tests (total antioxidant capacity, hydroxyl and superoxide radicals scavenging, ferrous chelation and reducing power), however, the ability to chelate iron ions appears as the main mechanism antioxidant of sulfated polysaccharides from seaweed. In antiproliferative assay, all heterofucanas showed dose-dependent activity for the inhibition of cell proliferation of HeLa, however, with the exception of SF-0,7V, SF- 1,0v and SF-1,5v, all fractions showed antiproliferative activity against MC3T3, a normal cell line. The heterofucana SF-1,5V had its antiproliferative mechanism of action evaluated. This heterofucan induces apoptosis in HeLa cells by a pathway caspase independent, promoting the release of apoptosis Inducing Factor (AIF) in the cytosol, which in turn induces chromatin condensation and DNA fragmentation into 50Kb fragments. These results are significant in that they provide a mechanistic framework for further exploring the use of SF-1.5v as a novel chemotherapeutics against human cervical cancer.

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Fungal polysaccharides have received a great deal of attention due to itsbecause of their potential use in a wide rangegreat variety fromof industries. Some studies have demonstrated that polysaccharides extracted offrom basidiomycetes they have presented significant properties as anti-inflammatory, antimicrobial, antioxidant and anti-tumoral properties. In spite of thisDespite these potential properties, these mushrooms have not been insufficiently investigated, and the great number of antibiotics number produced forby these organisms suggests that they canmay be a new source of bioactives composites source. In tThe present work, reports onlated the chemical composition, potential antioxidant, antiinflammatory and citotoxycity of extracted polymers extracted offrom the fruits bodies of the fungiius Geastrum saccatum and Polyporus dermoporus, native mushrooms of the Atlantic forest inof the state of the Rio Grande do Norte, Brazil. The Cchemical analyses had revealed ademonstrated text of total sugar rates of 65% and 49%, and proteins of 7.0% for in extracts of G. saccatum and P. dermoporus extracts, respectively. The analyses ofNMR spectroscopy of RMN had demonstrated that these extracts are composites forof a complex involving β- glucans and- proteins complex. The inhibition of the formation of superoxide radicals formation was of 88.4% in G. saccatum and 83.3% in P. dermoporus, and 75 and 100% for inhibition of hydroxyls radicals inhibition. TopicalThe topic application of extracts the 10, 30 and 50 mg/kg extract in BALBc mice with cutaneous inflammation induced byfor croton oil demonstrated to inhibitedion of ear edema of ear and cells polimorfonuclears cells atin the inflamed siteplace, being this reply more effective in lower concentrations being more effective. The evaluation of the glucans of G. saccatum and P. dermoporus glucans under induced pleurisy for carrageenan-induced pleurisya of showed the antiinflammatory action of these composites., being analyzed tThe frame number in the pleural exudates and thedosage of nitric oxide dosage was also analyzed. The cytotoxic action of these polymers was analyzed throughthrough the mitochondrial function (MTT). The incubation of the glucans with mononuclear cells of the peripheral blood demonstrated that the extracted glucans extracted fromof G. saccatum havepossess a moderate cytotoxic action. These results suggest that these mushrooms possess polymers formed byfor a complex glucana-protein complex, with antiinflammatory and antioxidant actions

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studies using UV as a source of DNA damage. However, even though unrepaired UV-induced DNA damages are related to mutagenesis, cell death and tumorigenesis, they do not explain phenotypes such as neurodegeneration and internal tumors observed in patients with syndromes like Xeroderma Pigmentosum (XP) and Cockayne Syndrome (CS) that are associated with NER deficiency. Recent evidences point to a role of NER in the repair of 8-oxodG, a typical substrate of Base Excision Repair (BER). Since deficiencies in BER result in genomic instability, neurodegenerative diseases and cancer, it was investigated in this research the impact of XPC deficiency on BER functions in human cells. It was analyzed both the expression and the cellular localization of APE1, OGG1 e PARP-1, the mainly BER enzymes, in different NER-deficient human fibroblasts. The endogenous levels of these enzymes are reduced in XPC deficient cells. Surprisingly, XP-C fibroblasts were more resistant to oxidative agents than the other NER deficient fibroblasts, despite presenting the highest of 8-oxodG. Furthermore, subtle changes in the nuclear and mitochondrial localization of APE1 were detected in XP-C fibroblasts. To confirm the impact of XPC deficiency in the regulation of APE1 and OGG1 expression and activity, we constructed a XPC-complemented cell line. Although the XPC complementation was only partial, we found that XPC-complemented cells presented increased levels of OGG1 than XPC-deficient cells. The extracts from XPC-complemented cells also presented an elevated OGG1 enzimatic activity. However, it was not observed changes in APE1 expression and activity in the XPCcomplemented cells. In addition, we found that full-length APE1 (37 kDa) and OGG1- α are in the mitochondria of XPC-deficient fibroblasts and XPC-complemented fibroblasts before and after induction of oxidative stress. On the other hand, the expression of APE1 and PARP-1 are not altered in brain and liver of XPC knockout mice. However, XPC deficiency changed the APE1 localization in hypoccampus and hypothalamus. We also observed a physical interaction between XPC and APE1 proteins in human cells. In conclusion, the data suggest that XPC protein has a role in the regulation of OGG1 expression and activity in human cells and is involved mainly in the regulation of APE1 localization in mice. Aditionally, the response of NER deficient cells under oxidative stress may not be only associated to the NER deficiency per se, but it may include the new functions of NER enzymes in regulation of expression and cell localization of BER proteins

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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Gasteroids fungi are characterized by the basidiospores maturation inside the basidioma, from which spores liberation occurs in a passive manner. These fungi were once seen as a well definite class of Basidiomycota, but nowadays they are considered an artificial assemblage, because the organisms have independent evolutionary histories forming a polyphyletic group with a vast morphological variety. Despite their diversity, studies with this group in the tropics are incipient, and the phylogenetic relationships of the species from temperate climate remain unknown. Thus, this work aimed to elucidate the phylogenetic relationships of gasteroids fungi from the Geastrales and Phallales orders, with the inclusion of tropical and temperate species, and with these analyses suggest a systematic position of species like Aseroë floriformis and Phallus roseus, as well as to verify if the lignicolous habit can indicate parental relationship in the Geastrum genus. For this, basidiomata were collected at Atlantic rain forest areas, during the rainy season, and the specimen identification followed specific literature for gasteroid fungi. The phylogenetic analyses were performed with Maximum Parsimony and Bayesian Analysis, making use of RPB2 and 28S nuclear genes and atp6 mitochondrial gene. It could be observed on the Phallales dendogram, that Aseroë floriformis did not cluster with A. rubra, and that it has an anterior divergence from all others species of the family Clathraceae used in this analysis, assuming a basal position in the clade. Phallus roseus, which once was recognized as Itajahya, has previous divergence from the group formed by Phallus species. At the Geastrales dendogram, in the group corresponding to Geastrum genus, it could be observed that species with lignicolous habitat clustered in a clade with high support values. So, the results suggest the creation of a new genus to accommodate A. floriformis, and the revalidation of Itajahya, as well as it can be affirmed that the lignicolous habitat on the Geastrum genus in fact indicates parental relationships, and that it has arised only once at the evolutionary history of the genus

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A Síndrome de Berardinelli-Seip (SBS) ou Lipodistrofia Generalizada Congênita acomete freqüentemente o aparelho cardiovascular e também promove anormalidades metabólicas envolvendo os metabolismos glicídico e lipídico. O objetivo do nosso trabalho foi avaliar a prevalência das anormalidades cardiovasculares e metabólicas em portadores da SBS. Vinte e dois pacientes do estado do Rio Grande do Norte (Brasil), com diagnóstico da SBS, foram submetidos à avaliação clinica, eletrocardiograma de repouso, ecodopplercardiograma, radiografia de tórax, eletrocardiografia dinâmica de 24 horas, teste ergométrico e análise laboratorial. Os pacientes eram predominantemente adultos jovens (n=22) , sendo 14 do sexo feminino. O mais novo tinha 8 e o mais velho 44 anos(22,4±9,7 anos). A totalidade da amostra apresentou resistência à insulina, acanthosis nigricans e HDL-colesterol diminuído. A presença de esplenomegalia, hepatomegalia, diabetes mellitus tipo II e triglicérides elevados eram constantes. A síndrome metabólica foi caracterizada em 81,8% dos pacientes com predominância para sexo feminino e com um alto grau de consangüinidade paterna (86,4%). A hipertensão arterial sistêmica e pré-hipertensão foram encontradas em mais da metade dos pacientes (77.3%). O eletrocardiograma e a radiografia de tórax não foram úteis para identificar a presença de anormalidades cardíacas na SBS, em particular a presença de hipertrofia ventricular esquerda. Para identificar o acometimento cardiovascular foi indispensável o estudo ecodopplercardiografico. Este exame mostrou a presença de hipertrofia concêntrica do ventrículo esquerdo (50%), hipertrofia excêntrica do ventrículo esquerdo (4,5%) e geometria normal do ventrículo esquerdo (45,5%). Disfunção sistólica do ventrículo esquerdo foi encontrada em apenas um paciente (4,5%) e disfunção diastólica em nenhum. Elevada taxa de arritmia foi evidenciada no Holter, tais como, extra-sístoles ventriculares, extra-sístoles supraventriculares e taquicardia supraventricular sustentada. Incompetência cronotrópica (54,5%) foi observada no teste ergométrico. Anormalidades cardiovasculares e metabólicas foram encontradas em elevada prevalência em indivíduos jovens e assintomáticos com SBS. Esses achados xii apontam para a necessidade de acompanhamento cardiológico sistemático e de medidas preventivas nesse grupo de risco