Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance. Occurrence is generally sporadic, although parent-to-child transmission has been reported on occasion. Employing whole-exome sequencing, we identified heterozygous truncating mutations in SRCAP in five unrelated individuals with sporadic MS. Sanger sequencing identified mutations in SRCAP in eight more affected persons. Mutations were de novo in all six instances in which parental DNA was available. SRCAP is an SNF2-related chromatin-remodeling factor that serves as a coactivator for CREB-binding protein (CREBBP, better known as CBP, the major cause of Rubinstein-Taybi syndrome [RTS]). Five SRCAP mutations, two of which are recurrent, were identified; all are tightly clustered within a small (111 codon) region of the final exon. These mutations are predicted to abolish three C-terminal AT-hook DNA-binding motifs while leaving the CBP-binding and ATPase domains intact. Our findings show that SRCAP mutations are the major cause of FHS and offer an explanation for the clinical overlap between FHS and RTS.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Background Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations. Conclusions This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.

Urediospores of rust fungi are ice nucleation active at > -10°C and harbor ice nucleation active bacteria

Various features of the biology of the rust fungi and of the epidemiology of the plant diseases they cause illustrate the important role of rainfall in their life history. Based on this insight we have characterized the ice nucleation activity (INA) of the aerially disseminated spores (urediospores) of this group of fungi. Urediospores of this obligate plant parasite were collected from natural infections of 7 species of weeds in France, from coffee in Brazil and from field and greenhouse-grown wheat in France, the USA, Turkey and Syria. Immersion freezing was used to determine freezing onset temperatures and the abundance of ice nuclei in suspensions of washed spores. Microbiological analyses of spores from France, the USA and Brazil, and subsequent tests of the ice nucleation activity of the bacteria associated with spores were deployed to quantify the contribution of bacteria to the ice nucleation activity of the spores. All samples of spores were ice nucleation active, having freezing onset temperatures as high as −4 °C. Spores in most of the samples carried cells of ice nucleation-active strains of the bacterium Pseudomonas syringae (at rates of less than 1 bacterial cell per 100 urediospores), but bacterial INA accounted for only a small fraction of the INA observed in spore suspensions. Changes in the INA of spore suspensions after treatment with lysozyme suggest that the INA of urediospores involves a polysaccharide. Based on data from the literature, we have estimated the concentrations of urediospores in air at cloud height and in rainfall. These quantities are very similar to those reported for other biological ice nucleators in these same substrates. However, at cloud level convective activity leads to widely varying concentrations of particles of surface origin, so that mean concentrations can underestimate their possible effects on clouds. We propose that spatial and temporal concentrations of biological ice nucleators active at temperatures > −10 °C and the specific conditions under which they can influence cloud glaciation need to be further evaluated so as to understand how evolutionary processes could have positively selected for INA.

Seasonal contrasts in abundance and reproductive parameters of Penilia avirostris (Cladocera, Ctenopoda) in a coastal subtropical area

We studied the population dynamics and the reproductive biology of Penilia avirostris during three consecutive years on the inner shelf off Ubatuba, Brazil. Penilia avirostris individuals and its eggs and embryos were counted, measured, and classified into stages. The species occurred throughout the studied period, in a wide temperature range (14.8-28.2A degrees C). Cladoceran densities were usually higher (> 2,000 ind m(-3)) in warm seasons, when the water column was stratified as a consequence of bottom intrusions of the cold- and nutrient-rich South Atlantic Central Water. Juveniles, non-reproducing females, and parthenogenic females were the dominant developmental stages. Males and gamogenic females were rare and only occurred when females reached peak abundances. This suggests that in tropical and subtropical coastal seas gamogenesis in P. avirostris is not as common as in temperate seas, but may play a significant role in the density-dependent control of the population preceding unfavourable periods.

Petroleum contamination impact on macrobenthic communities under the influence of an oil refinery: Integrating chemical and biological multivariate data

Petroleum contamination impact on macrobenthic communities in the northeast portion of Todos os Santos Bay was assessed combining in multivariate analyses, chemical parameters such as aliphatic and polycyclic aromatic hydrocarbon indices and concentration ratios with benthic ecological parameters. Sediment samples were taken in August 2000 with a 0.05 m(2) van Veen grab at 28 sampling locations. The predominance of n-alkanes with more than 24 carbons, together with CPI values close to one, and the fact that most of the stations showed UCM/resolved aliphatic hydrocarbons ratios (UCM:R) higher than two, indicated a high degree of anthropogenic contribution, the presence of terrestrial plant detritus, petroleum products and evidence of chronic oil pollution. The indices used to determine the origin of PAH indicated the occurrence of a petrogenic contribution. A pyrolytic contribution constituted mainly by fossil fuel combustion derived PAH was also observed. The results of the stepwise multiple regression analysis performed with chemical data and benthic ecological descriptors demonstrated that not only total PAH concentrations but also specific concentration ratios or indices such as >= C24:< C24, An/178 and Fl/Fl + Py, are determining the structure of benthic communities within the study area. According to the BIO-ENV results petroleum related variables seemed to have a main influence on macrofauna community structure. The PCA ordination performed with the chemical data resulted in the formation of three groups of stations. The decrease in macrofauna density, number of species and diversity from groups III to I seemed to be related to the occurrence of high aliphatic hydrocarbon and PAH concentrations associated with fine sediments. Our results showed that macrobenthic communities in the northeast portion of Todos os Santos Bay are subjected to the impact of chronic oil pollution as was reflected by the reduction in the number of species and diversity. These results emphasise the importance to combine in multivariate approaches not only total hydrocarbon concentrations but also indices, isomer pair ratios and specific compound concentrations with biological data to improve the assessment of anthropogenic impact on marine ecosystems. (c) 2008 Elsevier Ltd. All rights reserved.

Depositional history of sedimentary linear alkylbenzenes (LABs) in a large South American industrial coastal area (Santos Estuary, Southeastern Brazil)

This paper reports the reconstruction of the contamination history of a large South American industrial coastal area (Santos Estuary, Brazil) using linear alkylbenzenes (LABs). Three sediment cores were dated by (137)Cs Concentrations in surficial layers were comparable to the midrange concentrations reported for coastal sediments worldwide LAB concentrations increased towards the surface. indicating increased waste discharges into the estuary in recent decades. The highest concentration values occurred in the early 1970s, a time of intense industrial activity and marked population growth. The decreased LAB concentration, in the late 1970s was assumed to be the result of the world oil crisis Treatment of industrial effluents, which began in 1984, was represented by decreased LAB levels Microbial degradation of LABs may be more intense in the industrial area sediments. The results show that industrial and domestic waste discharges are a historical problem in the area. (C) 2010 Elsevier Ltd. All rights reserved.

Results from a 15-year study on hydrocarbon concentrations in water and sediment from Admiralty Bay, King George Island, Antarctica

Admiralty Bay on the King George Island hosts the Brazilian, Polish and Peruvian research stations as well as the American and Ecuadorian field stations. Human activities in this region require the use of fossil fuels as an energy source, thereby placing the region at risk of hydrocarbon contamination. Hydrocarbon monitoring was conducted on water and sediment samples from the bay over 15 years. Fluorescence spectroscopy was used for the analysis of total polycyclic aromatic hydrocarbons (PAHs) in seawater samples and gas chromatography with flame ionization and/or mass spectrometric detection was used to analyse individual n-alkanes and PAHs in sediment samples. The results revealed that most sites contaminated by these Compounds are around the Brazilian and Polish research stations due to the intense human activities, mainly during the summer. Moreover, the sediments revealed the presence of hydrocarbons from different sources, suggesting a mixture of the direct input of oil or derivatives and derived from hydrocarbon combustion. A decrease in PAH concentrations occurred following improvement of the sewage treatment facilities at the Brazilian research station, indicating that the contribution from human waste may be significant.

Skeletal abnormalities in humpback whales Megaptera novaeangliae stranded in the Brazilian breeding ground

Skeletal tissues of 49 humpback whales Megaptera novaeangliae that stranded between 2002 and 2011 along the Abrolhos Bank seashore and its adjacent waters in Brazil were studied. Twelve (24.5%) animals presented pathological changes in one or more bones. Degenerative changes and developmental malformations were most frequent (10.2% each), followed by inflammatory/infectious and traumatic lesions (8.2% each). Infectious diseases led to severe lesions of the caudal vertebrae of 2 whales. In one of these individuals, the lesions involved 6 caudal vertebrae, leading to ankylosis of 3 vertebrae. Degenerative changes were observed in the vertebral columns of 3 animals, involving the joints of 13 ribs of 1 individual, and in the humerus of 1 whale. Traumatic lesions, such as osseous callus in the ribs, were observed in 4 animals. In 1 whale, the rib showed severe osteomyelitis, possibly resulting from the infection of multiple fractures. Developmental abnormalities such as spina bifida on 3 cervical vertebrae of 1 whale, fusion of spinal processes on thoracic vertebrae of 1 individual and fusion of the first 2 ribs unilaterally or bilaterally in 4 animals were found. Chronic infectious conditions found in the axial skeleton may have restrained spinal mobility and had detrimental effects on the general health of the animals, contributing to stranding and death. To our knowledge, this is the first systematic study on skeletal lesions in stranded humpback whales.

Contamination by chlorinated pesticides, PCBs and PBDEs in Atlantic spotted dolphin (Stenella frontalis) in western South Atlantic

Chlorinated pesticides, PCBs and PBDEs were analysed in nine blubber samples of Atlantic spotted dolphins, Stenella frontalis, incidentally captured during fishing operations in southern and southeastern Brazil between 2005 and 2007. The majority of compounds analysed were detected, suggesting widespread contamination over the region. Although the samples came from a location far from main coastal industrial areas, the results revealed an influence from such sources. Therefore, levels of PCBs (774-23659 ng g(-1) lipid wt.) and PBDEs (23-1326 ng g(-1) lipid wt.) detected seem to be related to the movement of individuals throughout near-shore and offshore waters. The sample from a lactating female exhibited a lower level of contamination and a distinct pattern, indicating selective transfer favouring less lipophilic compounds.

The accuracy of pathological data for the prediction of insignificant prostate cancer

Introduction: The widespread screening programs prompted a decrease in prostate cancer stage at diagnosis, and active surveillance is an option for patients who may harbor clinically insignificant prostate cancer (IPC). Pathologists include the possibility of an IPC in their reports based on the Gleason score and tumor volume. This study determined the accuracy of pathological data in the identification of IPC in radical prostatectomy (RP) specimens. Materials and Methods: Of 592 radical prostatectomy specimens examined in our laboratory from 2001 to 2010, 20 patients harbored IPC and exhibited biopsy findings suggestive of IPC. These biopsy features served as the criteria to define patients with potentially insignificant tumor in this population. The results of the prostate biopsies and surgical specimens of the 592 patients were compared. Results: The twenty patients who had IPC in both biopsy and RP were considered real positive cases. All patients were divided into groups based on their diagnoses following RP: true positives (n = 20), false positives (n = 149), true negatives (n = 421), false negatives (n = 2). The accuracy of the pathological data alone for the prediction of IPC was 91.4%, the sensitivity was 91% and the specificity was 74%. Conclusion: The identification of IPC using pathological data exclusively is accurate, and pathologists should suggest this in their reports to aid surgeons, urologists and radiotherapists to decide the best treatment for their patients.

Gelatinous zooplankton fauna (Cnidaria, Ctenophora and Thaliacea) from Baia da Babitonga (southern Brazil)

The present study reports on a survey of the gelatinous zooplankton fauna (Cnidaria, Ctenophora and Thaliacea) from the proposed Baia da Babitonga marine protected area (southern Brazil; similar to 26 degrees S), based on collections from multiple sites over different seasons and from published literature. In order to sample both small and large gelatinous animals, plankton hauls (n = 255) and fishing trawls (n = 126) were employed. More than 20,000 organisms were studied, which, including literature data, totaled 48 species: one cubomedusa, three scyphomedusae, four siphonophores, 36 hydromedusae, two ctenophores, and two thaliaceans. Among these, the hydromedusae Cnidostoma fallax Vanhoffen and Helgicirrha sp. are recorded for the first time from the southwestern Atlantic coast and Paulinum sp. and Protiara sp. are recorded for the first time from the South Atlantic. A description of young stages of the hydromedusa Gossea brachymera Bigelow is presented and shows that Octobulbacea montehermosensis Zamponi is a junior synonym of the former. Although comprehensive local assessment of diverse taxonomic groups is still lacking, the high diversity observed herein underscores the importance of Ba a da Babitonga as a high priority site for conservation of regional marine biodiversity.

Cyanobacterial diversity in the phyllosphere of a mangrove forest

The cyanobacterial community colonizing phyllosphere in a well-preserved Brazilian mangrove ecosystem was assessed using cultivation-independent molecular approaches. Leaves of trees that occupy this environment (Rhizophora mangle, Avicennia schaueriana and Laguncularia racemosa) were collected along a transect beginning at the margin of the bay and extending upland. The results demonstrated that the phyllosphere of R.similar to mangle and L.similar to racemosa harbor similar assemblages of cyanobacteria at each point along the transect. A.similar to schaueriana, found only in the coastal portions of the transect, was colonized by assemblages with lower richness than the other trees. However, the results indicated that spatial location was a stronger driver of cyanobacterial community composition than plant species. Distinct cyanobacterial communities were observed at each location along the coast-to-upland transect. Clone library analysis allowed identification of 19 genera of cyanobacteria and demonstrated the presence of several uncultivated taxa. A predominance of sequences affiliated with the orders Nostocales and Oscillatoriales was observed, with a remarkable number of sequences similar to genera Symphyonemopsis/Brasilonema (order Nostocales). The results demonstrated that phyllosphere cyanobacteria in this mangrove forest ecosystem are influenced by environmental conditions as the primary driver at the ecosystem scale, with tree species exerting some effect on community structure at the local scale.

INTERSPECIFIC VARIATION OF THE BACTERIAL COMMUNITY STRUCTURE IN THE PHYLLOSPHERE OF THE THREE MAJOR PLANT COMPONENTS OF MANGROVE FORESTS

Mangrove forests encompass a group of trees species that inhabit the intertidal zones, where soil is characterized by the high salinity and low availability of oxygen. The phyllosphere of these trees represent the habitat provided on the aboveground parts of plants, supporting in a global scale, a large and complex microbial community. The structure of phyllosphere communities reflects immigration, survival and growth of microbial colonizers, which is influenced by numerous environmental factors in addition to leaf physical and chemical properties. Here, a combination of culture-base methods with PCR-DGGE was applied to test whether local or plant specific factors shape the bacterial community of the phyllosphere from three plant species (Avicenia shaueriana, Laguncularia racemosa and Rhizophora mangle), found in two mangroves. The number of bacteria in the phyllosphere of these plants varied between 3.62 x 10(4) in A. schaeriana and 6.26 x 10(3) in R. mangle. The results obtained by PCR-DGGE and isolation approaches were congruent and demonstrated that each plant species harbor specific bacterial communities in their leaves surfaces. Moreover, the ordination of environmental factors (mangrove and plant species), by redundancy analysis (RDA), also indicated that the selection exerted by plant species is higher than mangrove location on bacterial communities at phyllosphere.

New fossil pulmonate snails from the Paleocene of Itaborai Basin, Brazil (Pulmonata: Cerionidae, Strophocheilidae, Orthalicidae)

The limestones of ltaborai Basin (Middle Paleocene), Rio de Janeiro, Brazil, harbor a rich fossil fauna of pulmonate snails. Here two new pulmonate species are described: Brasilennea guttula sp. nov. (Cerionidae) and Eoborus rotundus sp. nov. (Strophocheilidae). B. guttula is the third species of its genus endemic from Itaborai, characterized mainly by its conspicuous shell shaped like a "water drop", with an acuminated spire. E. rotundus is the second of its genus from ltaborai, characterized mainly by its rounded outline and its relative small size. Moreover, a record of Plagiodontes aff. dental us (WOOD 1828) (Orthalicidae) is presented here for the first time for Itaborai Basin.

Foraminifera as indicators of marine pollutant contamination on the inner continental shelf of southern Brazil

Analyses of living foraminiferal and environmental parameters near an outfall at Mar Grosso Beach (Laguna, SC, Brazil) demonstrate its usefulness as indicators of domestic sewage pollution. The low species diversity may be due to sand accumulation in the central part. Higher diversity was noted closer to the mouth of Laguna estuarine system where reduced salinity and higher temperatures indicate freshwater influence, suggesting a relationship between increased diversity and greater availability of terrestrial food. On the basis of foraminiferal diversity and average coliform count the higher values are closer to the mouth of the estuarine system and under the influence of the outfall. Due to the effect of local hydrodynamics, the particulate organic waste derived from the outfall does not settle down locally, and thus, do not accumulate nearby. Our hypothesis is that the fine material derived from the outfall is accumulating on the southwestern and northwestern parts of the beach.