Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplications are flanked by large, directly oriented segmental duplications of >98% sequence identity, suggesting that nonallelic homologous recombination (NAHR) caused these genomic rearrangements. Nine individuals with deletions and five with duplications have additional copy number changes. Detailed clinical evaluation of 20 patients with deletions revealed variable clinical features, with developmental delay (DD) and/or intellectual disability (ID) as the only features common to a majority of individuals. We suggest that some of the other features present in more than one patient with deletion, including hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis may result from deletion of the CHAT gene, encoding choline acetyltransferase, and the SLC18A3 gene, mapping in the first intron of CHAT and encoding vesicular acetylcholine transporter. The phenotypic diversity and presence of the deletion in apparently normal carrier parents suggest that subjects carrying 10q11.21q11.23 deletions may exhibit variable phenotypic expressivity and incomplete penetrance influenced by additional genetic and nongenetic modifiers.

Compositional and structural variabilities of Mg-rich iron oxide spinels from tuffite

Maghemite (γFe2O3) from tuffite is exceptionally rich in Mg, relatively to most of those reportedly found in other mafic lithosystems. To investigate in detail the compositional and structural variabilities of this natural magnetic iron oxide, sets of crystals were isolated from samples collected at different positions in a tuffite weathering mantle. These sets of crystal were individually powdered and studied by X-ray diffractometry, Mössbauer spectroscopy, magnetization measurements and chemical analysis. Lattice parameter of the cubic cell (a0) was found to vary from 0.834(1) to 0.8412(1) nm. Lower a0-values are characteristic of maghemite whereas higher ones are related to a magnetite precursor. FeO content ranges up to 17 mass % and spontaneous magnetization ranges from 8 to 32 J T-1 kg-1. Zero-field room temperature Mössbauer spectra are rather complex, indicating that the hyperfine field distributions due to Fe3+ and mixed valence Fe3+/2+ overlap. The structural variabilities of the (Mg, Ti)-rich iron oxide spinels is essentially related to the range of chemical composition of its precursor (Mg, Ti)-rich magnetite, and probably to the extent to which it has been oxidized during transformation in soil.

Potential use of a chemical leaching reject from a kaolin industry as agricultural fertilizer

The industrial refining of kaolin involves the removal of iron oxides and hydroxides along with other impurities that cause discoloration of the final product and depreciate its commercial value, particularly undesirable if destined to the paper industry. The chemical leaching in the industrial processing requires treatments with sodium hyposulfite, metallic zinc, or sulfuric and phosphoric acids, in order to reduce, dissolve and remove ferruginous compounds. To mitigate the environmental impact, the acidic effluent from the leaching process must be neutralized, usually with calcium oxide. The resulting solid residue contains phosphorous, zinc, and calcium, among other essential nutrients for plant growth, suggesting its use as a macro and micronutrient source. Samples of such a solid industrial residue were used here to evaluate their potential as soil fertilizer in an incubation greenhouse experiment with two soil samples (clayey and medium-textured). The small pH shift generated by applying the residue to the soil was not a limiting factor for its use in agriculture. The evolution of the concentrations of exchangeable calcium, and phosphorous and zinc extractability by Mehlich-1 extractant during the incubation period confirms the potential use of this industrial residue as agricultural fertilizer.

Top income shares in Portugal over the twentieth century

[cat] L’objectiu d’aquest article és presentar nova evidència estadística sobre l’evolució de les desigualtats econòmiques a Portugal a llarg termini. L’explotació de les fonts fiscals portugueses ha permès l’estimació annual de les top income shares des de 1936. La construcció d’aquesta nova sèrie s’ha fet seguint la metodologia emprada per Piketty (2001). Aquesta nova sèrie revela una caiguda de les top income shares durant la Segona Guerra Mundial, seguida d’una recuperació fins a principis dels anys cinquanta. Des de mitjans dels cinquanta fins a principis dels anys vuitanta hi ha una caiguda dràstica de les top income shares. Per acabar, durant els anys noranta les top income shares tornen a augmentar. Aquesta pauta és molt similar a la viscuda en altres països: la reducció de les top income shares durant l’època daurada és compartida per tots els països estudiats i el seu increment als anys noranta sembla que alinea Portugal amb la pauta seguida pels països Anglosaxons.

Placentation in species of phylogenetic importance: the Afrotheria.

Afrotheria, one of four mammalian superorders, comprises elephants, sea cows, hyraxes, aardvark, elephant shrews, tenrecs and golden moles. Their placentas either form an equatorial band or are discoid in shape. The interhemal region, separating fetal and maternal blood, is endotheliochorial in elephants, aardvark and possibly the sea cows, but hemochorial in the remaining orders. There is a secondary epitheliochorial placenta in elephant shrews while a similar structure in tenrecs erodes maternal tissues. Specialized hemophagous regions are a striking characteristic of some of these placentas yet absent in hyraxes, elephant shrews, and golden moles. It is possible that the common ancestor of the Afrotheria had an endotheliochorial placenta. Establishment of a hemochorial condition, as seen in rock hyraxes, elephant shrews, tenrecs, and golden moles, would be a more recent development. The elephant, manatee, and aardvark all have circumferential placentas. Thus the formation of a discoid placenta with a more or less extensive secondary placenta in elephant shrews and tenrecs would also be a derived state.

The Cave by José Saramago: Platonic image versus metaphysics

The cave by José Saramago has as a certain reference the image of the cave of book VII of Plato's Republic and, however, Saramago is not an idealistic or metaphysical writer. This article, taking advantage of the applicability with which Plato endowed his image, defends the urge to be open to the messages sent by the earth, by matter, the urge not to become prisoners in the golden caves of the Western society and, finally, the urge to find our freedom in Nature, phýsis, and not far or beyond, metá, it.

Top income shares in Portugal over the twentieth century

[cat] L’objectiu d’aquest article és presentar nova evidència estadística sobre l’evolució de les desigualtats econòmiques a Portugal a llarg termini. L’explotació de les fonts fiscals portugueses ha permès l’estimació annual de les top income shares des de 1936. La construcció d’aquesta nova sèrie s’ha fet seguint la metodologia emprada per Piketty (2001). Aquesta nova sèrie revela una caiguda de les top income shares durant la Segona Guerra Mundial, seguida d’una recuperació fins a principis dels anys cinquanta. Des de mitjans dels cinquanta fins a principis dels anys vuitanta hi ha una caiguda dràstica de les top income shares. Per acabar, durant els anys noranta les top income shares tornen a augmentar. Aquesta pauta és molt similar a la viscuda en altres països: la reducció de les top income shares durant l’època daurada és compartida per tots els països estudiats i el seu increment als anys noranta sembla que alinea Portugal amb la pauta seguida pels països Anglosaxons.

Stream Stabilization in Western Iowa: Structure Evaluation and Design Manual, HR-385, 1998

Stream degradation is the action of deepening the stream bed and widening the banks due to the increasing velocity of water flow. Degradation is pervasive in channeled streams found within the deep to moderately deep loess regions of the central United States. Of all the streams, however, the most severe and widespread entrenchment occurs in western Iowa streams that are tributaries to the Missouri River. In September 1995 the Iowa Department of Transportation awarded a grant to Golden Hills Resource Conservation and Development, Inc. The purpose of the grant, HR-385 "Stream Stabilization in Western Iowa: Structure Evaluation and Design Manual", was to provide an assessment of the effectiveness and costs of various stabilization structures in controlling erosion on channeled streams. A review of literature, a survey of professionals, field observations and an analysis of the data recorded on fifty-two selected structures led to the conclusions presented in the project's publication, Design Manual, Streambed Degradation and Streambank Widening in Western Iowa. Technical standards and specifications for the design and construction of stream channel stabilization structures are included in the manual. Additional information on non-structural measures, monitoring and evaluation of structures, various permit requirements and further resources are also included. Findings of the research project and use and applications of the Design Manual were presented at two workshops in the Loess Hills region. Participants in these workshops included county engineers, private contractors, state and federal agency personnel, elected officials and others. The Design Manual continues to be available through Golden Hills Resource Conservation and Development.

El mapa y el territorio: una aproximación histórico-bibliográfica a la emergencia de las Humanidades Digitales en España

Este artículo consta de tres partes: en la primera me ocupo de algunas analogías y paralelismos históricos, tales como el libro y la imprenta, que han moldeado la reflexión en torno a la tecnología digital, al hipertexto y a la interactividad. En la segunda parte mi objetivo es trazar una panorámica ordenada cronológicamente sobre los principales proyectos de digitalización (bibliotecas, archivos, corpus y ediciones de obras literarias medievales y áureas) aparecidos en el ámbito académico hispánico desde 1986 hasta 2005; por supuesto, el recuento es incompleto pero aspira a ser representativo. Por último, la tercera parte se centra en cómo ha evolucionado la relación entre estudios literarios y la tecnología digital desde 2006 hasta la celebración del primer congreso oficial sobre Humanidades Digitales en 2013.

Composition, nanostructure, and optical properties of silver and silver-copper lusters

Lusters are composite thin layers of coinage metal nanoparticles in glass displaying peculiar optical properties and obtained by a process involving ionic exchange, diffusion, and crystallization. In particular, the origin of the high reflectance (golden-shine) shown by those layers has been subject of some discussion. It has been attributed to either the presence of larger particles, thinner multiple layers or higher volume fraction of nanoparticles. The object of this paper is to clarify this for which a set of laboratory designed lusters are analysed by Rutherford backscattering spectroscopy, transmission electron microscopy, x-ray diffraction, and ultraviolet-visible spectroscopy. Model calculations and numerical simulations using the finite difference time domain method were also performed to evaluate the optical properties. Finally, the correlation between synthesis conditions, nanostructure, and optical properties is obtained for these materials.

Reinventar la metròpoli: Barcelona i el model de la Greater London Authority

La dècada de 1980 va significar un punt i a part per als governs metropolitans. Després de viure una època daurada durant els 60 i 70, la reestructuració del sistema politicoeconòmic va comportar que les estructures de govern metropolità fossin qüestionades i fins i tot suprimides. Quan tot semblava indicar que restarien només com a record, la lògica de competència entre grans ciutats i la necessitat de reinventar-se en base a un desenvolupament sostenible va suposar un inesperat renaixement de la política metropolitana. Si fins aleshores la seva necessitat s'havia justificat bàsicament des d'un punt de vista funcional, seguint pautes tecnòcrates i burocratitzades, la nova metropolítica se centra en la competitivitat i en la sostenibilitat, alhora que posa èmfasi en assajar mètodes de governança. Londres, ciutat que presenta certs paral·lelismes històrics amb Barcelona, ha estat una ciutat pionera i de la seva experiència es pot aprendre per la capital catalana

Hastes florais de helicônia sob deficiência de macronutrientes

O objetivo deste trabalho foi avaliar características pós-colheita da primeira haste floral de plantas de Heliconia psittacorum x H. spathocircinata Aristeguieta, cultivar Golden Torch, sob deficiência de macronutrientes. O experimento foi conduzido em casa de vegetação, mediante técnica do elemento faltante. As inflorescências produzidas do tratamento sob omissão de N apresentaram coloração laranja-pálido e deformação nas hastes florais. O comprimento e o diâmetro da haste floral e o comprimento da inflorescência foram reduzidos nos tratamentos com omissão de N, P ou K em até 31,23%, em relação ao tratamento completo. A massa de matéria seca e a durabilidade pós-colheita das hastes florais foram reduzidas em 67 e 38,46%, respectivamente, em ambos os tratamentos com omissão de N ou K. As deficiências desses macronutrientes reduziram, ainda, a produção de hastes florais, a partir do segundo perfilho emitido. Hastes florais com maior massa de matéria seca e diâmetro apresentaram maior durabilidade pós-colheita. O teor de carboidrato na parte subterrânea mostrou correlação positiva (0,90) com a massa de matéria seca das hastes florais. Hastes florais com maior teor de carboidratos solúveis nas folhas retardaram a emissão da inflorescência.

Surgical results in patients with chronic low back pain who failed multidisciplinary rehabilitation with cognitive intervention

Introduction¦Surgery for chronic low back pain (CLBP) is a controversial topic. One randomized controlled¦trial (RCT) showed superiority of surgery to physiotherapy only, whereas two more RCTs¦failed to show that surgery was better than multidisciplinary rehabilitation including cognitive¦intervention. The latter is therefore regarded as the golden standard of conservative¦treatment and in our unit it is whenever possible offered to patients prior to lumbar surgery¦for CLBP.¦The objective of this study was to compare results of lumbar surgery between one group of¦patients who failed to improve despite such rehabilitation and a second group of patients who¦underwent surgery following usual conservative therapies. Our hypothesis is that patients¦who failed such a comprehensive treatment would respond poorly to surgery.¦Patients and Methods¦43 patients (age 41.2±8.1 years, number of men 20) were operated between 2003 and 2009¦by a single surgeon for CLBP due to degenerative disc disease (36) or isthmic¦spondylolisthesis (7). Patients with sciatica or neurological abnormalities were excluded.¦Seventeen (40%) patients were operated having failed to improve following the¦aforementioned rehabilitation programme (Surgery following rehabilitation group) whereas¦the remaining 26 (60%) were operated having failed to improve with physiotherapy of varying¦intensity (Surgery following physiotherapy group). Oswestry disability index (ODI) pre¦operatively and at 2 years following surgery was prospectively evaluated. Fisher's exact test¦was used to compare groups.¦Results¦At two years following surgery, with an average follow up of 22 month, a 15 points ODI¦improvement was achieved for 9 (53%) patients of the surgery following rehabilitation group¦and in 15 (58%) patients of the surgery following physiotherapy group (p=1.0). A 50% ODI¦improvement was observed for 6 (35%) and 12 (46%) patients respectively (p=0.54).¦Discussion¦The main finding of this study was that surgery following failed multidisciplinary rehabilitation¦yields similar results to those of patients who only received usual physiotherapy treatment for¦CLBP prior to surgery. But surprisingly we found that it is possible with surgery to improve¦the quality of life of those CLBP sufferers who failed to respond to a comprehensive¦rehabilitation program and with a similar success rate to those reported in other series.¦But rehabilitation should still be offered as a treatment option in all CLBP patients prior to¦surgery, given that it is devoid of complications and that it will spare the need of surgery to a¦significant proportion of CLBP patients while not compromising surgical results in the¦remaining subjects who failed to improve.

Transgene inheritances and genetic similarities of near isogenic lines of genetically modified common beans

The objective of the present work was to determine the inheritance and stability of transgenes of a transgenic bean line expressing the genes rep-trap-ren from Bean golden mosaic virus and the bar gene. Crosses were done between the transgenic line and four commercial bean cultivars, followed by four backcrosses to the commercial cultivars. Progenies from each cross were evaluated for the presence of the transgenes by brushing the leaves with glufosinate ammonium and by polymerase chain reaction using specific oligonucleotides. Advanced generations were rub-inoculated with an isolate of Bean common mosaic necrosis virus (BCMNV). The transgenes were inherited consistently in a Mendelian pattern in the four crosses studied. The analyzed lines recovered close to 80% of the characteristics of the recurrent parent, as determined by the random amplified DNA markers used, besides maintaining important traits such as resistance to BCMNV. The presence of the transgene did not cause any detectable undesirable effect in the evaluated progenies.