Mucoepidermoid Carcinoma of the Lung Arising at the Primary Site of A Bronchogenic Cyst: Clinical, Cytogenetic, and Molecular Findings

Primary lung tumors are rare in children, and mucoepidermoid carcinoma (MEC) represents less than 10% of them. Additionally, MEC arising from bronchogenic cysts (BC) is particularly unusual. We describe the clinical and genetic findings on a MEC occurring within a previous location of a BC in an adolescent. This particular association has not been previously reported. The lesion revealed normal karyotype without the typical t(11;19)(q21;p13) translocation. Cyclin D1 overexpression (165-fold increase) was demonstrated by real-time PCR although FISH assessment showed normal hybridization at 11q13. Information on these unusual clinical presentations may present relevant insight on tumorigenesis of infrequent pediatric pulmonary tumors. Pediatr Blood Cancer 2011;56:311-313. (C) 2010 Wiley-Liss, Inc.

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

Context: Loss-of-function mutations of the kisspeptin-1 receptor gene, KISS1R, have been identified in patients with normosmic isolated hypogonadotropic hypogonadism (nIHH). Objective: To investigate KISS1R defects in patients with absent or delayed puberty. Patients: We investigated KISS1R gene defects in a cohort of 99 Brazilian patients with nIHH or constitutional delay of puberty (CDP). Methods: The entire coding region of KISS1R was amplified by PCR followed by automatic sequencing. In addition, screening for KISS1R exonic deletions was performed by multiplex ligation-dependent probe amplification. Results: One novel homozygous KISS1R mutation was identified in two siblings with nIHH. This variant was an insertion/deletion (indel) mutation characterized by the deletion of three nucleotides (GCA) at position -2 to -4, and by the insertion of seven nucleotides (ACCGGCT) at the same position, within the 30 splice acceptor site of intron 2 of KISS1R. The brothers who carried this KISS1R mutation had no clinical evidence of pubertal development at the ages of 14 and 20 years. Computational analysis of this indel mutation predicted the generation of an abnormal protein. In addition, a new heterozygous KISS1R variant (p.E252Q) was identified in a male patient with sporadic nIHH. However, in vitro studies of this variant did not demonstrate functional impairment. Only known polymorphisms were identified in patients with CDP. Conclusion: Loss-of-function mutations of KISS1R represents a rare cause of nIHH, and was absent in patients with CDP. We have described a novel KISS1R homozygous splice acceptor site mutation in the familial form of nIHH.

Interleukin-33 attenuates sepsis by enhancing neutrophil influx to the site of infection

Sepsis is a systemic inflammatory condition following bacterial infection with a high mortality rate and limited therapeutic options(1,2). Here we show that interleukin-33 (IL-33) reduces mortality in mice with experimental sepsis from cecal ligation and puncture (CLP). IL-33-treated mice developed increased neutrophil influx into the peritoneal cavity and more efficient bacterial clearance than untreated mice. IL-33 reduced the systemic but not the local proinflammatory response, and it did not induce a T helper type 1 (T(H)1) to T(H)2 shift. The chemokine receptor CXCR2 is crucial for recruitment of neutrophils from the circulation to the site of infection(3). Activation of Toll-like receptors (TLRs) in neutrophils downregulates CXCR2 expression and impairs neutrophil migration(4). We show here that IL-33 prevents the downregulation of CXCR2 and inhibition of chemotaxis induced by the activation of TLR4 in mouse and human neutrophils. Furthermore, we show that IL-33 reverses the TLR4-induced reduction of CXCR2 expression in neutrophils via the inhibition of expression of G protein coupled receptor kinase-2 (GRK2), a serine-threonine protein kinase that induces internalization of chemokine receptors(5,6). Finally, we find that individuals who did not recover from sepsis had significantly more soluble ST2 (sST2, the decoy receptor of IL-33) than those who did recover. Together, our results indicate a previously undescribed mechanism of action of IL-33 and suggest a therapeutic potential of IL-33 in sepsis.

Histology of the regenerate and docking site in bone transport

Bone transport is based on the principle of distraction osteogenesis described by Ilizarov and is a consecrated method for the treatment of segmental bone defects. One of its most problematic and, paradoxically, least studied aspects is the consolidation of the docking site. We studied histologically the ossification of the docking site and regenerate to determine any difference between them. Nine adult sheep were submitted to correction of a 1-cm tibial diaphyseal defect using a system of plate-fixed bone transport, with latency period of 1 week and 0.2 mm distraction of the transported segment four times a day. The sheep were divided into three groups of three animals each, according to the observation period of 3, 6 or 12 weeks between the fixation of the transported fragment and the euthanasia. The docking site and the regenerate were studied histologically on sections stained with Masson trichrome. The main mode of docking site ossification was the endochondral one and although intramembranous ossification was also observed simultaneously, it was limited to rare and small foci. In contrast, intramembranous ossification played the major role in the regenerate, with bone formation evolving from the base segment to the target segment. The experimental bone transport model proposed in the present study permits us to conclude that there is a clear difference between the ossification of the docking site and of the regenerate.

Giant Perineal Leiomyoma Incidentally Manifested at a Recent Episiotomy Site: Case Report

Benign leiomyomas are common soft tumors, arising especially in the female genital tract; unlike uterine leiomyomas, they rarely occur in perineal regions. They can develop wherever smooth muscle is present. Herein is reported the case of a large perineal leiomyoma in a 36-year-old woman who noted a palpable mass close to the rectum 1 year after she had delivered vaginally, in the same region of as a mediolateral episiotomy. Complete surgical excision was performed. Histopathologic findings were compatible with benign leiomyoma. At postoperative follow-up, no signs of anal dysfunction were noted. There was no pathologic correlation between formation of the leiomyoma and the episiotomy despite a possible association between the presence of fibrosis and development of leiomyomas, which was found during a literature review. Microarray analysis will be necessary to elucidate this hypothesis. Journal of Minimally Invasive Gynecology (2011) 18, 267-269 (C) 2011 AAGL. All rights reserved.

Feline injection-site sarcoma

The feline injection-site sarcoma (FIS) is a challenge for the veterinarian and the affected cat`s owner. The injectable applications (vaccines, medications) seems to be the reason for that neoplasia, more specifically, the inflammation caused by injury of given drugs or antigens to the health tissue. Generally the FIS presents a more aggressive behavior when compared to sarcoma not associated to application. The most effective treatment his not been established yet, but it is believed that a multimodality of therapies, surgery, radiotherapy, and chemotherapy would be the most indicated option. The knowledge of the illness in all of its aspects will Supply to professionals colleges subsidies in relation to the best way to approach its diagnosis and treatment.

Improved Production of Genetically Modified Fetuses with Homogeneous Transgene Expression After Transgene Integration Site Analysis and Recloning in Cattle

Animal cloning by nuclear transfer (NT) has made the production of transgenic animals using genetically modified donor cells possible and ensures the presence of the gene construct in the offspring. The identification of transgene insertion sites in donor cells before cloning may avoid the production of animals that carry undesirable characteristics due to positional effects. This article compares blastocyst development and competence to establish pregnancies of bovine cloned embryos reconstructed with lentivirus-mediated transgenic fibroblasts containing either random integration of a transgene (random integration group) or nuclear transfer derived transgenic fibroblasts with known transgene insertion sites submitted to recloning (recloned group). In the random integration group, eGFP-expressing bovine fetal fibroblasts were selected by fluorescence activated cell sorting (FACS) and used as nuclei donor cells for NT. In the recloned group, a fibroblast cell line derived from a transgenic cloned fetus was characterized regarding transgene insertion and submitted to recloning. The recloned group had higher blastocyst production (25.38 vs. 14.42%) and higher percentage of 30-day pregnancies (14.29 vs. 2.56%) when compared to the random integration group. Relative eGFP expression analysis in fibroblasts derived from each cloned embryo revealed more homogeneous expression in the recloned group. In conclusion, the use of cell lines recovered from transgenic fetuses after identification of the transgene integration site allowed for the production of cells and fetuses with stable transgene expression, and recloning may improve transgenic animal yields.

Influence of root parallelism on the stability of extraction-site closures

Introduction: In premolar extraction cases, root parallelism is recommended to preserve the stability of space closures. The influence of the degree of root parallelism on relapse of tooth extraction spaces has been a controversial topic in the literature. The aim of this study was to compare the angle between the long axes of the canine and the second premolarin patients with and without stability of extraction-space closures. Methods: A sample of 56 patients, treated with 4 premolar extractions, was divided into 2 groups: group 1, consisting of 25 patients with reopening of extraction spaces; and group 2, consisting of 31 patients without reopening of extraction spaces. Panoramic radiographs of each patient were analyzed at the posttreatment and 1-year posttreatment stages. The data were statistically analyzed by using chi-square tests, t tests, analysis of variance (ANOVA), and Pearson correlation coefficients. Results: The results showed that the groups did not differ regarding the angle between the canine and the second premolar, and there was no correlation between angular changes and reopening of extraction spaces, showing that dental angular changes are not determining factors for relapse, and other factors should be investigated. Conclusions: The final angle and the posttreatment changes observed in the angle between the long axes of the canine and the second premolar showed no influence on the relapse of extraction spaces. (Am J Orthod Dentofacial Orthop 2011; 139: e505-e510)

On site flotation for recovering polluted aquatic systems: is it a feasible solution for a Brazilian urban river?

Pinheiros River (Brazil) plays a pivotal role in supplying water to Billings Reservoir, which presents multiple uses (human drinking, energy generation, irrigation, navigation, fishing and leisure) An intense monitoring program was performed during the years 2007 and 2008 to find out whether on site flotation is a feasible solution or not for improving the water quality of this urban river, attenuating the pollutants load caused by the water pumping to the reservoir (approximately 10 m(3)s(-1)) The monitoring of 18 variables (13,429 laboratorial analysis during the period of 490 days), suggested that despite the convenience of the on site approach for water treatment, especially for rivers located in fully urbanized areas, the flotation system is not enough itself to recover Pinheiros River water quality, given the several constraints that apply Total phosphorus removal was high in percentage terms (about 90%), although the remaining concentrations were not so low (mean of 0 05 mg L(-1)) The removal efficiency of some variables was insufficient, leading to high final mean concentrations of metals [e g aluminium (0 29 mg L(-1)), chromium (0 02 mg L(-1)) and iron (1 1 mg L(-1))] as well as nitrogen-ammonia (25 8 mg L(-1)) and total suspended solids (18 mg L(-1)) in the treated water

Ratios of UV, PAR and NIR components to global solar radiation measured at Botucatu site in Brazil

The relationships between the four radiant fluxes are analyzed based on a 4 year data archive of hourly and daily global ultraviolet (I(UV)), photosynthetically active-PAR (I(PAR)), near infrared (I(NIR)) and broadband global solar radiation (I(G)) collected at Botucatu, Brazil. These data are used to establish both the fractions of spectral components to global solar radiation and the proposed linear regression models. Verification results indicated that the proposed regression models predict accurately the spectral radiant fluxes at least for the Brazilian environment. Finally, results obtained in this analysis agreed well with most published results in the literature. (c) 2010 Elsevier Ltd. All rights reserved.

Effects of species turnover on reserve site selection in a fragmented landscape

Changes in species composition is an important process in many ecosystems but rarely considered in systematic reserve site selection. To test the influence of temporal variability in species composition on the establishment of a reserve network, we compared network configurations based on species data of small mammals and frogs sampled during two consecutive years in a fragmented Atlantic Forest landscape (SE Brazil). Site selection with simulated annealing was carried out with the datasets of each single year and after merging the datasets of both years. Site selection resulted in remarkably divergent network configurations. Differences are reflected in both the identity of the selected fragments and in the amount of flexibility and irreplaceability in network configuration. Networks selected when data for both years were merged did not include all sites that were irreplaceable in one of the 2 years. Results of species number estimation revealed that significant changes in the composition of the species community occurred. Hence, temporal variability of community composition should be routinely tested and considered in systematic reserve site selection in dynamic systems.

Oviposition site selection by the bromeliad-dweller harvestman Bourguyia hamata (Arachnida : Opiliones)

Bourguyia hamata females oviposit almost exclusively inside the rosette formed by the curled leaves of the epiphytic bromeliad Aechmea nudicaulis. We investigated whether the architecture of the individual bromeliads influences oviposition site selection by this harvestman species. We collected data on the presence of clutches inside bromeliads, rosette length, rosette slope in relation to tree trunks, and the amount of debris inside the rosette. Additionally, we measured the water volume inside the rosettes as well as the variation in the humidity inside and outside bromeliads with long and short rosettes. Longer rosettes were preferred as oviposition site possibly because they accumulate more water and maintain lower internal humidity variation than the external environment. Although the slope of the rosettes did not influence the occurrence of oviposition, the probability of debris accumulation inside the rosettes increased with their slope, and the frequency of clutches was greater in bromeliads with small amounts of debris. A field experiment showed that bromeliads with water inside the rosette were more frequently used as oviposition sites than bromeliads without water. In conclusion, females oviposit predominantly in bromeliads that accumulate more water and have small amounts of debris inside the rosettes, probably because these characteristics promote a more adequate microhabitat for egg development.

Ribosomal RNA gene insertions in the R2 site of Rhynchosciara (Diptera: Sciaridae)

Ribosomal RNA genes of most insects are interrupted by R1/R2 retrotransposons. The occurrence of R2 retrotransposons in sciarid genomes was studied by PCR and Southern blot hybridization in three Rhynchosciara species and in Trichosia pubescens. Amplification products with the expected size for non-truncated R2 elements were only obtained in Rhynchosciara americana. The rDNA in this species is located in the proximal end of the X mitotic chromosome but in the salivary gland is associated with all four polytene chromosomes. Approximately 50% of the salivary gland rDNA of most R. americana larval groups analysed had an insertion in the R2 site, while no evidence for the presence of R1 elements was found. In-situ hybridization results showed that rDNA repeat units containing R2 take part in the structure of the extrachromosomal rDNA. Also, rDNA resistance to Bal 31 digestion could be interpreted as evidence for nonlinear rDNA as part of the rDNA in the salivary gland. Insertions in the rDNA of three other sciarid species were not detected by Southern blot and in-situ hybridization, suggesting that rDNA retrotransposons are significantly under-represented in their genomes in comparison with R. americana. R2 elements apparently restricted to R. americana correlate with an increased amount of repetitive DNA in its genome in contrast to other Rhynchosciara species. The results obtained in this work together with previous results suggest that evolutionary changes in the genus Rhynchosciara occurred by differential genomic occupation not only of satellite DNA but possibly also of rDNA retrotransposons.

Site-directed mutagenesis and structural modeling of Coq10p indicate the presence of a tunnel for coenzyme Q6 binding

Coq10p is a protein required for coenzyme Q function, but its specific role is still unknown. It is a member of the START domain superfamily that contains a hydrophobic tunnel implicated in the binding of lipophilic molecules. We used site-directed mutagenesis, statistical coupling analysis and molecular modeling to probe structural determinants in the Coq10p putative tunnel. Four point mutations were generated (coq10-K50E, coq10-L96S, coq10-E105K and coq10-K162D) and their biochemical properties analysed, as well as structural consequences. Our results show that all mutations impaired Coq10p function and together with molecular modeling indicate an important role for the Coq10p putative tunnel. (C) 2010 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.

Aerosol properties, in-canopy gradients, turbulent fluxes and VOC concentrations at a pristine forest site in Amazonia

Aerosol physical and chemical properties were measured in a forest site in central Amazonia (Cuieiras reservation, 2.61S; 60.21W) during the dry season of 2004 (Aug-Oct). Aerosol light scattering and absorption, mass concentration, elemental composition and size distributions were measured at three tower levels (Ground: 2 m; Canopy: 28 m, and Top: 40 m). For the first time, simultaneous eddy covariance fluxes of fine mode particles and volatile organic compounds (VOC) were measured above the Amazonian forest canopy. Aerosol fluxes were measured by eddy covariance using a Condensation Particle Counter (CPC) and a sonic anemometer. VOC fluxes were measured by disjunct eddy covariance using a Proton Transfer Reaction Mass Spectrometer (PTR-MS). At nighttime, a strong vertical gradient of phosphorus and potassium in the aerosol coarse mode was observed, with higher concentrations at Ground level. This suggests a source of primary biogenic particles below the canopy. Equivalent black carbon measurements indicate the presence of light-absorbing aerosols from biogenic origin. Aerosol number size distributions typically consisted of superimposed Aitken (76 nm) and accumulation modes (144 nm), without clear events of new particle formation. Isoprene and monoterpene fluxes reached respectively 7.4 and 0.82 mg m(-2) s(-1) around noon. An average fine particle flux of 0.05 +/- 0.10 10(6) m(-2) s(-1) was calculated, denoting an equilibrium between emission and deposition fluxes of fine mode particles at daytime. No significant correlations were found between VOC and fine mode aerosol concentrations or fluxes. (C) 2009 Elsevier Ltd. All rights reserved.