Autism spectrum disorder in a girl with a de novo x;19 balanced translocation

Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with a de novo X;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed a de novo balanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated with de novo balanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.

Estudo do processo de reparo de enxerto ósseo em bloco submetido ao recobrimento com etil-cianoacrilato: análise histométrica e imunoistoquímica em ratos

Pós-graduação em Odontologia - FOA

Sphenophorus levis Vaurie, 1978 (Coleoptera: Curculionidae): caracterização macroscópica e determinação de inseticida e época de aplicação para controle

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Fibra da cana-de-açúcar para suínos pesados em restrição alimentar qualitativa

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

Qualidade estrutural em latossolos compactados cultivados com milho

Pós-graduação em Agronomia (Produção Vegetal) - FCAV

Tamanho de parcelas experimentais e seleção simultânea de caracteres em progênies de Eucalyptus camaldulensis Dehnh

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Fenologia e efeito da desfolha parcial na produção extemporânea de efeito da desfolha parcial na produção extemporânea da videira, cultivar Cabernet Franc (Vitis vinifera L.), na região de São Roque - SP

Pós-graduação em Agronomia (Horticultura) - FCA

Fenologia e efeito da desfolha parcial na produção extemporânea de efeito da desfolha parcial na produção extemporânea da videira, cultivar Cabernet Franc (Vitis vinifera L.), na região de São Roque - SP

Pós-graduação em Agronomia (Horticultura) - FCA

Clinical Predictors Associated With Duration of Repetitive Transcranial Magnetic Stimulation Treatment for Remission in Bipolar Depression A Naturalistic Study

Repetitive transcranial magnetic stimulation (rTMS) has been widely tested and shown to be effective for unipolar depression. Although it has also been investigated for bipolar depression (BD), there are only few rTMS studies with BD. Here, we investigated 56 patients with BD who received rTMS treatment until remission (defined as Hamilton Depression Rating Scores <= 7). We used simple and multiple logistic regressions to identify clinical and demographic predictors associated with duration of treatment (defined as <15 vs. >15 rTMS sessions). Age, refractoriness, number of prior depressive episodes, and severe depression at baseline were associated with a longer rTMS treatment. In the multivariate analysis, refractoriness (likelihood ratio (LR) = 4.33; p < 0.01) and baseline severity (LR = 0.18, p < 0.01) remained significant predictors. Our preliminary study showed that, in remitted patients, refractoriness and severity of index episode are associated with the need of a longer rTMS treatment; providing preliminary evidence of important factors associated with rTMS parameters adjustment.

Assessment of variations of the mandibular canal through cone beam computed tomography

The neurovascular bundle may be vulnerable during surgical procedures involving the mandible, especially when anatomical variations are present. Increased demand of implant surgeries, wider availability of three-dimensional exams, and lack of clear definitions in the literature indicate that features of anatomical variations should be revisited. The objective of the study was to evaluate features of anatomical variations related to mandibular canal (MC), such as bifid canals, anterior loop of mental nerve, and corticalization of MC. Additionally, bone trabeculation at the submandibular gland fossa region (SGF) was assessed and related to visibility of MC. Cone beam computed tomography exams from 100 patients (200 hemimandibles) were analyzed and the following parameters were registered: diameter and corticalization of MC; trabeculation in SGF region; presence of bifid MC, position of bifurcations, diameter, and direction of bifid canals; and measurement of anterior loops by two methods. Corticalization of the MC was observed in 59% of hemimandibles. In 23%, MC could be identified despite absence of corticalization. Diameter of MC was between 2.1 and 4 mm for nearly three quarters of the sample. In 80% of the sample trabeculation at the SGF was either decreased or not visible, and such cases showed correlation with absence of MC corticalization. Bifid MC affected 19% of the patients, mostly associated with additional mental foramina. Clinically significant anterior loop (> 2 mm of anterior extension) was observed in 22-28%, depending on the method. Our findings, together with previously reported limitations of conventional exams, draw attention to the unpredictability related to anatomical variations in neurovascularization, showing the contribution of individual assessment through different views of three-dimensional imaging prior to surgical procedures in the mandible.

Six minute walk test Z score: Correlations with cystic fibrosis severity markers

Background: The six-minute-walk-test (6MWT) has been increasingly used in cystic fibrosis (CF) patients. However, few studies in children have correlated 6MWT with current parameters used to evaluate CF severity. Moreover, no study transformed the values of distance walked from meters into Z scores to avoid bias like age and gender, which are sources of 6MWT variability. Methods: A cross-sectional descriptive study was performed to analyze the correlations (Spearman) among forced expiratory volume in one second (FEV1), body mass index (BMI), chest radiography (CXR), chest tomography (CT), and 6MWT Z score (Z-6MWT). Clinically stable CF patients, aged 6-21 years, were included. Results: 34 patients, 14F/20M, mean age 12.1 +/- 4.0 years were studied. The mean Z-6MWT was -1.1 +/- 1.106. The following correlations versus Z-6MWT were found: FEV1 (r=0.59, r(2)=0.32, p=0.0002), BMI Z score (r=0.42, r(2)=0.17, p=0.013), CXR (r=0.34, r(2)=0.15, p=0.0472) and CT (r=-0.45, r(2)=0.23, p=0.0073). Conclusions: In conclusion there was a significant, but poor, correlation between the six minute walk test Z score and the cystic fibrosis severity markers currently in use. (C) 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Growth, carcass characteristics, chemical composition and fatty acid profile of the longissimus dorsi muscle in goat kids fed diets with castor oil

The objective in this study was to determine growth, carcass characteristics, chemical composition and fatty acid profile of the longissimus dorsi of crossbred Boer x Saanen kids fed castor oil. Twenty-four kids (12 males and 12 females) were assigned in a randomized complete block design with two treatments and twelve replications. Blocks were defined according to weight, gender and initial age of animals for the evaluation of performance. The experimental treatments consisted of two diets containing 900 g concentrate/kg: a control diet (without addition of oil) and another containing castor oil at 30 g/kg (on a dry matter basis). After they reached an average body weight of 25 kg, males were slaughtered for the evaluation of carcass characteristics, chemical composition and fatty acid profile of the longissimus dorsi muscle. The addition of castor oil in the diet did not affect the intake of dry matter, crude protein and neutral detergent fiber; the average daily gain; and feed conversion, but increased the ether extract intake. No difference was observed for the carcass characteristics, chemical composition of the meat, concentration of C18:2 cis-9, trans-11 (CLA) and total concentration of saturated, monounsaturated and polyunsaturated fatty acids and their relations; however, there was increase in the concentrations of C18:2 trans-10, cis-12 (CLA) and C20:4 omega-6. The addition of castor oil to the diet of crossbred Boer x Saanen kids containing a high content of concentrate did not promote benefit to the characteristics evaluated.

Rehabilitation with forage grasses of an area degraded by urban solid waste deposits

Dry matter yield and chemical composition of forage grasses harvested from an area degraded by urban solid waste deposits were evaluated. A split-plot scheme in a randomized block design with four replicates was used, with five grasses in the plots and three harvests in the subplots. The mineral content and extraction and heavy metal concentration were evaluated in the second cut, using a randomized block design with five grasses and four replicates. The grasses were Brachiaria decumbens cv. Basilisk, Brachiaria ruziziensis, Brachiaria brizantha cv. Marandu and cv. Xaraés, and Panicum maximum cv. Tanzânia, cut at 42 days of regrowth. The dry matter yield per cut reached 1,480 kg ha-1; the minimum crude protein content was 9.5% and the average neutral detergent fiber content was 62.3%. The dry matter yield of grasses was satisfactory, and may be an alternative for rehabilitating areas degraded by solid waste deposits. The concentration of heavy metals in the plants was below toxicity levels; the chemical composition was appropriate, except for phosphorus. The rehabilitated areas may therefore be used for grazing.

Mitochondrial dysfunction in a cell model of thyroid oncocytoma

The role of mitochondrial dysfunction in cancer has long been a subject of great interest. In this study, such dysfunction has been examined with regards to thyroid oncocytoma, a rare form of cancer, accounting for less than 5% of all thyroid cancers. A peculiar characteristic of thyroid oncocytic cells is the presence of an abnormally large number of mitochondria in the cytoplasm. Such mitochondrial hyperplasia has also been observed in cells derived from patients suffering from mitochondrial encephalomyopathies, where mutations in the mitochondrial DNA(mtDNA) encoding the respiratory complexes result in oxidative phosphorylation dysfunction. An increase in the number of mitochondria occurs in the latter in order to compensate for the respiratory deficiency. This fact spurred the investigation into the presence of analogous mutations in thyroid oncocytic cells. In this study, the only available cell model of thyroid oncocytoma was utilised, the XTC-1 cell line, established from an oncocytic thyroid metastasis to the breast. In order to assess the energetic efficiency of these cells, they were incubated in a medium lacking glucose and supplemented instead with galactose. When subjected to such conditions, glycolysis is effectively inhibited and the cells are forced to use the mitochondria for energy production. Cell viability experiments revealed that XTC-1 cells were unable to survive in galactose medium. This was in marked contrast to the TPC-1 control cell line, a thyroid tumour cell line which does not display the oncocytic phenotype. In agreement with these findings, subsequent experiments assessing the levels of cellular ATP over incubation time in galactose medium, showed a drastic and continual decrease in ATP levels only in the XTC-1 cell line. Furthermore, experiments on digitonin-permeabilised cells revealed that the respiratory dysfunction in the latter was due to a defect in complex I of the respiratory chain. Subsequent experiments using cybrids demonstrated that this defect could be attributed to the mitochondrially-encoded subunits of complex I as opposed to the nuclearencoded subunits. Confirmation came with mtDNA sequencing, which detected the presence of a novel mutation in the ND1 subunit of complex I. In addition, a mutation in the cytochrome b subunit of complex III of the respiratory chain was detected. The fact that XTC-1 cells are unable to survive when incubated in galactose medium is consistent with the fact that many cancers are largely dependent on glycolysis for energy production. Indeed, numerous studies have shown that glycolytic inhibitors are able to induce apoptosis in various cancer cell lines. Subsequent experiments were therefore performed in order to identify the mode of XTC-1 cell death when subjected to the metabolic stress imposed by the forced use of the mitochondria for energy production. Cell shrinkage and mitochondrial fragmentation were observed in the dying cells, which would indicate an apoptotic type of cell death. Analysis of additional parameters however revealed a lack of both DNA fragmentation and caspase activation, thus excluding a classical apoptotic type of cell death. Interestingly, cleavage of the actin component of the cytoskeleton was observed, implicating the action of proteases in this mode of cell demise. However, experiments employing protease inhibitors failed to identify the specific protease involved. It has been reported in the literature that overexpression of Bcl-2 is able to rescue cells presenting a respiratory deficiency. As the XTC-1 cell line is not only respiration-deficient but also exhibits a marked decrease in Bcl-2 expression, it is a perfect model with which to study the relationship between Bcl-2 and oxidative phosphorylation in respiratory-deficient cells. Contrary to the reported literature studies on various cell lines harbouring defects in the respiratory chain, Bcl-2 overexpression was not shown to increase cell survival or rescue the energetic dysfunction in XTC-1 cells. Interestingly however, it had a noticeable impact on cell adhesion and morphology. Whereas XTC-1 cells shrank and detached from the growth surface under conditions of metabolic stress, Bcl-2-overexpressing XTC-1 cells appeared much healthier and were up to 45% more adherent. The target of Bcl-2 in this setting appeared to be the actin cytoskeleton, as the cleavage observed in XTC-1 cells expressing only endogenous levels of Bcl-2, was inhibited in Bcl-2-overexpressing cells. Thus, although unable to rescue XTC-1 cells in terms of cell viability, Bcl-2 is somehow able to stabilise the cytoskeleton, resulting in modifications in cell morphology and adhesion. The mitochondrial respiratory deficiency observed in cancer cells is thought not only to cause an increased dependency on glycolysis but it is also thought to blunt cellular responses to anticancer agents. The effects of several therapeutic agents were thus assessed for their death-inducing ability in XTC-1 cells. Cell viability experiments clearly showed that the cells were more resistant to stimuli which generate reactive oxygen species (tert-butylhydroperoxide) and to mitochondrial calcium-mediated apoptotic stimuli (C6-ceramide), as opposed to stimuli inflicting DNA damage (cisplatin) and damage to protein kinases(staurosporine). Various studies in the literature have reported that the peroxisome proliferator-activated receptor-coactivator 1(PGC-1α), which plays a fundamental role in mitochondrial biogenesis, is also involved in protecting cells against apoptosis caused by the former two types of stimuli. In accordance with these observations, real-time PCR experiments showed that XTC-1 cells express higher mRNA levels of this coactivator than do the control cells, implicating its importance in drug resistance. In conclusion, this study has revealed that XTC-1 cells, like many cancer cell lines, are characterised by a reduced energetic efficiency due to mitochondrial dysfunction. Said dysfunction has been attributed to mutations in respiratory genes encoded by the mitochondrial genome. Although the mechanism of cell demise in conditions of metabolic stress is unclear, the potential of targeting thyroid oncocytic cancers using glycolytic inhibitors has been illustrated. In addition, the discovery of mtDNA mutations in XTC-1 cells has enabled the use of this cell line as a model with which to study the relationship between Bcl-2 overexpression and oxidative phosphorylation in cells harbouring mtDNA mutations and also to investigate the significance of such mutations in establishing resistance to apoptotic stimuli.

Kinetische Untersuchungen zur Synthese von Blockcopolymeren mit Methacrylatsegmenten durch neue anionische Polymerisationssysteme

Ein metallfreies Reaktionssystem mit Bis(triphenylphosphoranyliden)ammonium-Kationen als Gegenionen sowie das Additiv Lithium-2-methoxyethoxid wurden auf ihre Eignung zur anionischen Synthese von Blockcopolymeren mit (Meth)acrylatsegmenten bei moderaten Temperaturen im Strömungsrohr-Reaktor untersucht. Das metallfreie System ist zur lebenden Polymerisation von Methacrylaten in THF mit engen Molekulargewichtsverteilungen bei Reaktionszeiten < 1 s bis zu Temperaturen von 0 °C geeignet. In Gegenwart von Metallionen (Li+) findet eine Verlangsamung der Polymerisation unter Verlust der Reaktionskontrolle statt, Lithiumenolate verursachen nun breite, multimodale Molekulargewichtsverteilungen. Eine lebende Polymerisation von Acrylaten ist nicht möglich, massenspektroskopische Untersuchungen der Produkte weisen auf einen komplexen Reaktionsmechanismus mit Abbruch- und Übertragungsreaktionen hin. Die Synthese von Poly(styrol)-block-Poly(1,4-butadien)-block-Poly(methylmethacrylat)-Copolymeren in Toluol ist mit Lithium-2-methoxyethoxid als Additiv für die MMA-Polymerisation bei moderaten Mischtemperaturen (T < 0 °C) im Strömungsrohr-Reaktor möglich, die Effektivität des Wechselschritts von Polybutadien zu PMMA beträgt im Durchschnitt ca. 50 %. Untersuchungen verschiedener Reaktionsparameter, wie z.B. der Endfunktionalisierung des Polybutadiens mit 1,1-Diphenylethylen und der Temperatur während der Verkappung und der MMA-Polymerisation, geben keine eindeutigen Hinweise auf die Ursache dieses Phänomens. MALDI-TOF-Massenspektren des unreagierten Polybutadien Precursors zeigen die Anlagerung von 1-3 Molekülen Methylmethacrylat und keinen Abbruch durch Backbiting, was auf die Ausbildung stabiler Aggregate hindeutet.