Mosaic isochromosome xq and microduplication 17p13.3p13.2 in a patient with Turner syndrome and congenital cataract

La combinación del síndrome de Turner con otros trastornos genéticos, como la catarata congénita, ha sido reportada. Sin embargo, su asociación con una forma de catarata nuclear congénita con herencia autosómica dominante y penetrancia incompleta no ha sido reportada previamente en la literatura. Tampoco existen reportes de su presentación junto con rearreglos en el cromosoma 17. A continuación, presentamos el excepcional caso de una paciente con una constelación de anomalías mayores y menores, diagnosticada con síndrome de Turner en mosaico por isocromosoma Xq, asociado a una microduplicación 17p13.3p13.2, quien además presenta catarata nuclear congénita bilateral de herencia autosómica dominante con penetrancia incompleta. Se realiza una revisión acerca del origen y la causa de estas alteraciones genéticas y una aproximación a la hipótesis de la patogénesis de la asociación de dos de estos trastornos genéticos en una misma paciente.The combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.3p13.2, who also had bilateral congenital nuclear cataract autosomal dominant with incomplete penetrance. We reviewed in the literature the origin and cause of these genetic alterations and we provided an approach to the hypothesis of the pathogenesis of the association of two of these genetic disorders in the same patient

de Sitter black hole with a conformally coupled scalar field in four dimensions

A four-dimensional black hole solution of the Einstein equations with a positive cosmological constant, coupled to a conformal scalar field, is given. There is a curvature singularity at the origin, and scalar field diverges inside the event horizon. The electrically charged solution, which has a fixed charge-to-mass ratio is also found. The quartic self-interacting coupling becomes bounded in terms of Newton's and the cosmological constants.Comment: 5 pages, no figures, CECS style, energy conditions are discussed and some references were added. To appear in Phys. Rev.

Case for diagnosis. A bluish nodule on the scalp

A 32-year-old man was seen due to a 24-month history of an asymptomatic nodular lesion in the left parietal region. Physical examination revealed a smoothly bluish elevated nodule of 1.5cm x 1cm. He reported no preceding history of trauma. Dermoscopy revealed a homogeneous blue pattern (Figure 1). The tumor was surgically excised and sent for dermatopathological study. Histological examination showed a circumscribed dermal tumor without epidermal attachmen

Back-reaction of a conformal field on a three-dimensional black hole

The first order corrections to the geometry of the (2+1)-dimensional black hole due to back-reaction of a massless conformal scalar field are computed. The renormalized stress energy tensor used as the source of Einstein equations is computed with the Green function for the black-hole background with transparent boundary conditions. This tensor has the same functional form as the one found in the nonperturbative case which can be exactly solved. Thus, a static, circularly symmetric and asymptotically anti-de Sitter black hole solution of the semiclassical equations is found. The corrections to the thermodynamic quantities are also computed.Comment: 12 pages, RevTeX, no figure

Aloinjerto de matriz ósea descalcificada versus injerto autólogo en la reparación de defectos óseos segmentarios masivos. : Estudio experimental

Se compara la capacidad regenerativa del aloinjerto de matriz ósea descalcificada con el tradicional injerto óseo autólogo en el tratamiento de defectos osteoperiósticos de 4-5 cm, de longitud provocados experimentalment e a nivel diafisario en fémur ovino. Para este experimento, se emplearon 18 corderos de raza churra esquelé- ticament e maduros. En 8 animales, la reconstrucción del defecto diafisario se intentó mediant e el aport e aloinjerto fragmentado de matriz óse a descalcificada. En otros 6 animales, el defecto se rellenó con injerto corticoesponjoso autólogo, también fragmentado. La estabilización ósea se realizó por medio de un fijador externo. Tras efectuar estudio s radiológicos e histológicos, los resultados fueron comparado s con un grupo control de 4 animales con el mismo defecto óseo femoral, en los que no se efectuó ningún tipo de reconstrucción ósea. El injerto autólogo se mostró más eficaz que el aloinjerto de matriz ósea descalcificada para la reparación de defectos óseos segmentarios masivos. Sólo en 1 de los animale s tratados con aloinjertos de matriz ósea se observó una actividad osteogénica que condujo a la reparación y consolidación del defecto. Por el contrario, no se observó ningún fracaso en la incorporación y consolidación de los injertos autólogos en los animales que completaron los 4 mese s de estudio.The regenerative capacity of decalcified allogenic matrix was compared with that of autologous bone graft for treatment of osteoperiosteal defects, 4-5 cm in length, experimentally induced in the sheep femoral diaphysis. Eighteen skeletally matur e shee p wer e use d in this investigation. In 8 animals, the reconstructio n of the diaphyseal defect wa s performed using small fragments of decalcified allogeni c bone matrix. In othe r 6 animals, the defect wa s refilled with corticoespongious autologous bone graft in chips. Bone stabilization was achieved by means of an external fixator. After radiologic and histologic assessments, the results wer e compared with a control group including 4 animals with the same diaphyseal defect but without any attempt of reconstruction. Autologous bone graft was found to be more efficient than decalcified allogenic bone matrix for treatment of large segmental bone defects. An osteogeni c activity leading to the complete repair and consolidation of the defect wa s only detected in 1 of the animals treated with allogenic bone matrix. On the contrary, no failures in the incorporation and consolidation of grafts wer e observed in thos e animals treated with autologous bone chips

Developing New Tools to Determine Plant Spacing for Precise Agrochemical Application

CIGR - AgEng 2016 Aarhus, Denmark 26 - 29 JuneAdvances in the usage of computer imaging, communication technologies and the successful development of new techniques for precision agriculture have facilitated a smart-digital revolution in row crop agriculture in recent years. The use of a yield monitor, variable rate application (VRA) for fertilizer and herbicides, soil property maps and Global Navigation Satellite System (GNSS) technology has enabled the development of computer generated prescription maps for farm management. All these technologies are changing agricultural practices from simple mechanical operations to automated operations implemented by robotic-based systems. The automation of individual crop plant care in vegetable crop fields has increased its practical feasibility and improved efficiency and economic benefit. A systems-based approach is a key feature in the mechanization engineering design via the incorporation of precision sensing techniques. The objective of this study was to design sensing capabilities for implementation to measure plant spacing under different test conditions (California, USA and Andalucía, Spain). Three different optical sensors were used: an optical light curtain transmitter and receiver (880nm), a LiDAR sensor (905 nm), and an RGB camera. An active photoelectric transmission sensor, which contained 3 pairs of optical light curtain transmitters and receivers, evaluated the interruption by the tomato stem of the light curtain between the two devices, and was recorded simultaneously in real-time by a high-speed embedded control system. The LiDAR (model LMS 211 in California and LMS 111 in Spain, from SICK AG) was installed in a vertical orientation in the middle of the mobile platform. Additionally, a RGB spatial mosaicked image was used to adjust the data from the light beam and LiDAR sensor and obtain combined information (RGBD where D is for distance). These sensors were used to properly detect, localize, and discriminate between weed and tomato plants. The use of this detection system may result in a new technique that allows for the automatic control of aggressive weeds and the automation of weeding tools.Ministerio de Economía y Competitividad AGL2013-46343-RJunta de Andalucía P12-AGR-122