Expression variability of co-regulated genes differentiates Saccharomyces cerevisiae strains

Background: Saccharomyces cerevisiae (Baker’s yeast) is found in diverse ecological niches and is characterized by high adaptive potential under challenging environments. In spite of recent advances on the study of yeast genome diversity, little is known about the underlying gene expression plasticity. In order to shed new light onto this biological question, we have compared transcriptome profiles of five environmental isolates, clinical and laboratorial strains at different time points of fermentation in synthetic must medium, during exponential and stationary growth phases. Results: Our data unveiled diversity in both intensity and timing of gene expression. Genes involved in glucose metabolism and in the stress response elicited during fermentation were among the most variable. This gene expression diversity increased at the onset of stationary phase (diauxic shift). Environmental isolates showed lower average transcript abundance of genes involved in the stress response, assimilation of nitrogen and vitamins, and sulphur metabolism, than other strains. Nitrogen metabolism genes showed significant variation in expression among the environmental isolates. Conclusions: Wild type yeast strains respond differentially to the stress imposed by nutrient depletion, ethanol accumulation and cell density increase, during fermentation of glucose in synthetic must medium. Our results support previous data showing that gene expression variability is a source of phenotypic diversity among closely related organisms.Fundação para a Ciência e TecnologiaThe authors wish to thank Adega Cooperativa da Bairrada, Cantanhede, Portugal, for providing the commercial strains

Canonical wnt signaling activity in early stages of chick lung development

Wnt signaling pathway is an essential player during vertebrate embryonic development which has been associated with several developmental processes such as gastrulation, body axis formation and morphogenesis of numerous organs, namely the lung. Wnt proteins act through specific transmembrane receptors, which activate intracellular pathways that regulate cellular processes such as cell proliferation, differentiation and death. Morphogenesis of the fetal lung depends on epithelial-mesenchymal interactions that are governed by several growth and transcription factors that regulate cell proliferation, fate, migration and differentiation. This process is controlled by different signaling pathways such as FGF, Shh and Wnt among others. Wnt signaling is recognized as a key molecular player in mammalian pulmonary development but little is known about its function in avian lung development. The present work characterizes, for the first time, the expression pattern of several Wnt signaling members, such as wnt-1, wnt-2b, wnt-3a, wnt-5a, wnt-7b, wnt-8b, wnt-9a, lrp5, lrp6, sfrp1, dkk1, β-catenin and axin2 at early stages of chick lung development. In general, their expression is similar to their mammalian counterparts. By assessing protein expression levels of active/total β-catenin and phospho-LRP6/LRP6 it is revealed that canonical Wnt signaling is active in this embryonic tissue. In vitro inhibition studies were performed in order to evaluate the function of Wnt signaling pathway in lung branching. Lung explants treated with canonical Wnt signaling inhibitors (FH535 and PK115-584) presented an impairment of secondary branch formation after 48 h of culture along with a decrease in axin2 expression levels. Branching analysis confirmed this inhibition. Wnt-FGF crosstalk assessment revealed that this interaction is preserved in the chick lung. This study demonstrates that Wnt signaling is crucial for precise chick lung branching and further supports the avian lung as a good model for branching studies since it recapitulates early mammalian pulmonary development.Rute S. Moura was supported by a grant of ON.2 SR&TD Integrated Program (N-01-01-0124-01-07), ref: UMINHO/BPD/31/2013. The funders had no role in study design, data collection and analysis

Operation and performance of the ATLAS Tile Calorimeter in Run 1

The Tile Calorimeter is the hadron calorimeter covering the central region of the ATLAS experiment at the Large Hadron Collider. Approximately 10,000 photomultipliers collect light from scintillating tiles acting as the active material sandwiched between slabs of steel absorber. This paper gives an overview of the calorimeter’s performance during the years 2008–2012 using cosmic-ray muon events and proton–proton collision data at centre-of-mass energies of 7 and 8TeV with a total integrated luminosity of nearly 30 fb−1. The signal reconstruction methods, calibration systems as well as the detector operation status are presented. The energy and time calibration methods performed excellently, resulting in good stability of the calorimeter response under varying conditions during the LHC Run 1. Finally, the Tile Calorimeter response to isolated muons and hadrons as well as to jets from proton–proton collisions is presented. The results demonstrate excellent performance in accord with specifications mentioned in the Technical Design Report

Comparative cytogenetics of three species of Dichotomius (Coleoptera, Scarabaeidae)

Meiotic and mitotic chromosomes of Dichotomius nisus, D. semisquamosus and D. sericeus were analyzed after conventional staining, C-banding and silver nitrate staining. In addition, Dichotomius nisus and D. semisquamosus chromosomes were also analyzed after fluorescent in situ hybridization (FISH) with an rDNA probe. The species analyzed had an asymmetrical karyotype with 2n = 18 and meta-submetacentric chromosomes. The sex determination mechanism was of the Xyp type in D. nisus and D. semisquamosus and of the Xy r type in D. sericeus. C-banding revealed the presence of pericentromeric blocks of constitutive heterochromatin (CH) in all the chromosomes of the three species. After silver staining, the nucleolar organizer regions (NORs) were located in autosomes of D. semisquamosus and D. sericeus and in the sexual bivalent of D. nisus. FISH with an rDNA probe confirmed NORs location in D. semisquamosus and in D. nisus. Our results suggest that chromosome inversions and fusions occurred during the evolution of the group

Hypercalcemia in a patient with disseminated paracoccidioidomycosis: a case report

<p>Abstract</p> <p>Introduction</p> <p>Hypercalcemia is well described in various granulomatous disorders, such as sarcoidosis, tuberculosis, berylliosis, leprosy and fungal infections. However, the association of <it>Paracoccidioides brasiliensis </it>and hypercalcemia is rare: to the best of our knowledge, only two cases have previously been reported, and neither had a clear documentation of the etiology of the hypercalcemia.</p> <p>Case presentation</p> <p>We report the case of a 22-year-old man in whom disseminated infection with paracoccidioidomycosis was associated with hypercalcemia. The patient had a high normal serum level of 1,25-dihydroxyvitamin D and a suppressed parathyroid hormone value, an indication that the hypercalcemia was not mediated by parathyroid hormone and might be associated with 1,25-dihydroxyvitamin D.</p> <p>Conclusion</p> <p>The episode resolved readily with administration of corticosteroids, an outcome suggesting that this is an effective treatment of hypercalcemia of this origin. On follow-up, while receiving antifungal therapy for <it>P. brasiliensis </it>the patient's calcium values remained normal.</p

Visceral dissemination of mucocutaneous leishmaniasis in a kidney transplant recipient

Intracellular protozoan of the genus Leishmania, endemic in the Mediterranean basin, are the cause of cutaneous (CL), mucocutaneous (MCL), and visceral leishmaniasis (VL). A 75-year-old woman was admitted nine years after a second kidney transplant (KT), due to persistent pancytopenia and fever. She presented edema and erythema of the nose in the last two years and an exophytic nodular lesion located on the left arm, with areas of peripheral necrosis and central ulceration in the last 18 months. A bone marrow biopsy revealed features compatible with Leishmania amastigotes, and polymerase chain reaction test (PCR) for Leishmania infantum was positive. Moreover, biopsy and PCR for L. infantum of the cutaneous lesion on the patient’s left arm and nose and PCR from peripheral blood were positive. Thus, a diagnosis of CL, MCL, and VL was made, and liposomal amphotericin B was initiated, but the patient had an unfavorable outcome and died. This is the first report of a KT recipient presenting with the entire spectrum of leishmaniasis. In Portugal, this infection is rare—so a high degree of clinical suspicion is required for its diagnosis, especially in endemic regions, as visceral leishmaniasis is a potentially life-threatening infection

Evaluation of parameters related to libido and semen quality in Zebu bulls naturally infected with Trypanosoma vivax

BACKGROUND: Trypanosomiasis is a disease caused by Trypanosoma (Dutonella) vivax, a hemoprotozoa that can affect bovines. In South America, the sanguineous form is mechanically transmitted from one mammalian host (ruminant) to another by the bite of a blood-sucking insect or by needles contaminated with infected blood. The negative impact of the parasitosis caused by T. vivax infection on the reproductive activity of male and female ruminants is known to reduce fertility. In males, alterations such as degeneration, diffuse or interlobular inflammatory infiltrate found in ovine and bovine testicles, can affect fertility through decreased sperm quality. This study evaluated the impact of natural infection with T. vivax on Zebu bulls from the Central Station of Artificial Insemination (CSAI) with regard to libido and the negative effects caused by this protozoan on semen quality. METHODS: Blood samples of 44 animals were collected to evaluate the presence of the trypomastigote form of T. vivax in blood smears obtained from hematocrit and buffy coat, and antibody titer IgG anti T. vivax in indirect Immunoflorescence (IFI). Furthermore, data related to libido, ejaculate volume, spermatic concentration, and seminal vigor were recorded for these animals employing the criteria of the CSAI. RESULTS: Nine animals (20.45 %) showed T. vivax trypomastigotes and parasitemia between 0.02 and 0.07, and antibody titers from 1:80 to 1:320 in IFI. Twenty nine negative animals in parasitological tests were not reactive in IFI, and six animals presented the antibodies IgG anti T. vivax in IFI. Data on reproductive activity showed that animals infected with T. vivax have a decreased libido and an increased spermatic volume, whereas other factors related to the reproductive process such as spermatic concentration, motility and spermatic force, were unchanged in infected bulls. CONCLUSIONS: The T. vivax infection in Zebu bulls from CSAI caused patent parasitemia, induced a febrile state, promoted reduction in the libido and increased the ejaculate volume. These conditions together may account to decrease the performance of these animals

Genetic variants identified by target next-generation sequencing in heart transplant patients with dilated cardiomyopathy

Introduction and Objectives: Dilated cardiomyopathy (DCM) is a myocardial disease that can progress to a terminal stage, requiring heart transplantation. In this work we aim to contribute to knowledge of genetic variants in adult patients undergoing heart transplantation due to end-stage DCM, reporting the results obtained in our single-center tertiary hospital series using target next-generation sequencing (NGS). Methods and Results: Genetic variants were screened in 15 genes, preselected based on variants previously identified in DCM patients. Thirteen unrelated patients were included, nine (69%) male, mean age at diagnosis 33±13 years, eight (62%) with familial DCM. Nine genetic variants were identified in six (46%) patients: five in LMNA, two in LBD3, one in TNNT2 and one in TCAP. These variants were new in most patients. The majority were classified as of uncertain significance. Two patients were double and triple heterozygotes in the LBD3 and LMNA genes, respectively. Conclusion: Our results highlight the potential of NGS in the genetic characterization of DCM patients. LMNA is one of the most frequently mutated genes and should be included in all target gene assessments of end-stage DCM patients until more data are available.This study received a research grant from Fundação para a Ciência e Tecnologia ( FCT-PTDC/BIM-MEC/0650/2012 )

Ocorrência de falhas na triagem auditiva em escolares

PURPOSES: to determine the occurrence of failures in the hearing screening in students and compare the results obtained in public schools with the particular ones. METHOD: 90 students enrolled in a public and private school took part in this study. The students were submitted to otoscopy and otoacoustic emissions, checking the influence of gender and education network as for the results of hearing screening. RESULTS: we observed that 62.2% of the students passed the hearing screening and 37.8% failed, and we observed higher failure rate among students from public schools. CONCLUSION: we may conclude that in the studied population, the occurrence of failed hearing screening in school is 37.8% and this was significantly higher in students from public schools.OBJETIVOS: determinar a ocorrência de falhas na triagem auditiva em escolares e comparar os resultados obtidos nas escolas da rede pública com os da particular. MÉTODO: participaram deste estudo de frequência, 90 escolares matriculados em uma escola da rede pública e outra da rede particular. Os alunos foram submetidos à meatoscopia e às emissões otoacusticas, verificando a influencia das variáveis sexo e rede de ensino aos resultados da triagem auditiva. RESULTADOS: foi constatado que 62,2% dos escolares passaram na triagem auditiva e 37,8% falharam, sendo observado maior índice de falha entre os alunos da escola pública. CONCLUSÃO: conclui-se que, na população estudada, a ocorrência de falha na triagem auditiva em escolares é 37,8%, sendo significantemente superior nos alunos da escola da rede pública quando comparados aos da particular.Universidade Estadual de Ciências da Saúde de AlagoasUNCISAL Faculdade de FonoaudiologiaUNIFESPUniversidade Federal de São Paulo, EPM, São Paulo, BrazilSciEL