Sample records for hamdoose chand fotoni

  1. Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

    PubMed

    Busa, Tiffany; Jeraiby, Mohammed; Clémenson, Alix; Manouvrier, Sylvie; Granados, Viviana; Philip, Nicole; Touraine, Renaud

    2017-11-01

    CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations. © 2017 Wiley Periodicals, Inc.

  2. Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.

    PubMed

    Gollasch, Benjamin; Basmanav, Fitnat Buket; Nanda, Arti; Fritz, Günter; Mahmoudi, Hassnaa; Thiele, Holger; Wehner, Maria; Wolf, Sabrina; Altmüller, Janine; Nürnberg, Peter; Frank, Jorge; Betz, Regina C

    2015-11-01

    Three children from an expanded consanguineous Kuwaiti kindred presented with ankyloblepharon, sparse and curly hair, and hypoplastic nails, suggestive of CHAND syndrome (OMIM 214350) that belongs to the heterogeneous spectrum of ectodermal dysplasias. After exclusion of pathogenic mutations in TP63 we performed homozygosity mapping, followed by exome sequencing of one affected individual. We initially identified three homozygous mutations in the linked region, located in PWP2, MX2 and RIPK4. Recently, mutations in RIPK4 have been reported in Bartsocas-Papas syndrome (OMIM 263650) that shows overlapping clinical symptoms with the phenotype observed in the affected individuals studied here. Subsequent analysis of affected and non-affected family members showed that mutation c.850G>A (p.Glu284Lys) in RIPK4 was in complete segregation with the disease phenotype, in accordance with an autosomal recessive inheritance pattern, thus supporting pathogenicity of this variant. Interestingly, however, our patients did not have cleft lip/palate, a common feature encountered in Bartsocas-Papas syndrome. Whereas in Bartsocas-Papas syndromes missense mutations are usually located within the serin/threonin kinase of RIPK4, the mutation detected in our family resides just outside of the kinase domain, which could explain the milder phenotype. Our data raise the question if CHAND syndrome indeed is a distinct entity. Alternatively, CHAND and Bartsocas-Papas syndrome might be allelic disorders or RIPK4 mutations could confer varying degrees of phenotypic severity, depending on their localization within or outside functionally important domains. Our findings indicate that making an accurate diagnosis based only on the prevailing clinical symptoms is challenging. © 2015 Wiley Periodicals, Inc.

  3. Flow Over a Body of Revolution in a Steady Turn

    DTIC Science & Technology

    2004-10-01

    31], Migliore and Wolfe [32]. Migliore investigated flow curvature effects on Darrieus wind turbines , a special type of turbine which has a continuous...and Wolfe- J. B.. Some Effects of Flow Curvature Effects oil the Aerodynamics of Darrieus Wind Turbines West Viryinia University , 1979 33. Hirsch, Ch...and Mandal. A. C., Flow Curvature Effects on Vertical Axis Darrieus Wind Turbine Having High Chord-Radius Ratio European Wind Energy Confer- ence

  4. Rotating Beam Fatigue Testing and Hybrid Ceramic Bearings.

    DTIC Science & Technology

    1994-07-01

    Runout and Fast Fracture ......... 20 FIG.7 Stress-life Plots of Rotating Beam Fatigue Testing ............. 23 FIG.8 Fractograph of Rotating Beam...Chand-Kare Engineering Ceramics, Worcester, MA. Diamond wheels of 600 grits were used with longitudinal grinding applied for the final finishing of...stress in the range of 600-850 MPa. Three test completion modes were encountered, i.e. fast fracture at setup, fatigue fracture and runout (no failure

  5. Customization of stock eye prosthesis for a pediatric patient by a simplified technique.

    PubMed

    Jurel, Sunit Kumar; Talwar, Naina; Chand, Pooran; Singh, Raghuwar D; Gupta, Durga Shanker

    2012-05-01

    The unfortunate loss or absence of an eye may be caused by congenital defect , irreparable trauma, tumor or blind eye. The role of the maxillofacial prosthodontist in fabricating an ocular prosthesis to restore facial symmetry and normal appearance for the anophthalmic patient becomes essential. A custom-made ocular prosthesis is an excellent alternative for the people who lose their eye especially in young age. It has acceptable fit, retention and esthetics but is technically difficult to fabricate. On the other hand the stock eye has compromised fit and poor esthetics. Our case report presents a simple technique of customization of stock eye prosthesis to provide accurate fit and acceptable esthetics. How to cite this article: Jurel SK, Talwar N, Chand P, Singh RD, Gupta DS. Customization of Stock Eye Prosthesis for a Pediatric Patient by a Simplified Technique. Int J Clin Pediatr Dent 2012;5(2):155-158.

  6. Customization of Stock Eye Prosthesis for a Pediatric Patient by a Simplified Technique

    PubMed Central

    Talwar, Naina; Chand, Pooran; Singh, Raghuwar D; Gupta, Durga Shanker

    2012-01-01

    ABSTRACT The unfortunate loss or absence of an eye may be caused by congenital defect , irreparable trauma, tumor or blind eye. The role of the maxillofacial prosthodontist in fabricating an ocular prosthesis to restore facial symmetry and normal appearance for the anophthalmic patient becomes essential. A custom-made ocular prosthesis is an excellent alternative for the people who lose their eye especially in young age. It has acceptable fit, retention and esthetics but is technically difficult to fabricate. On the other hand the stock eye has compromised fit and poor esthetics. Our case report presents a simple technique of customization of stock eye prosthesis to provide accurate fit and acceptable esthetics. How to cite this article: Jurel SK, Talwar N, Chand P, Singh RD, Gupta DS. Customization of Stock Eye Prosthesis for a Pediatric Patient by a Simplified Technique. Int J Clin Pediatr Dent 2012;5(2):155-158. PMID:25206159

  7. Wind Retrievals under Rain for Passive Satellite Microwave Radiometers and its Applications to Hurricane Tracking

    NASA Technical Reports Server (NTRS)

    Meissner, Thomas; Wentz, Frank J.

    2008-01-01

    We have developed an algorithm that retrieves wind speed under rain using C-hand and X-band channels of passive microwave satellite radiometers. The spectral difference of the brightness temperature signals due to wind or rain allows to find channel combinations that are sufficiently sensitive to wind speed but little or not sensitive to rain. We &ve trained a statistical algorithm that applies under hurricane conditions and is able to measure wind speeds in hurricanes to an estimated accuracy of about 2 m/s. We have also developed a global algorithm, that is less accurate but can be applied under all conditions. Its estimated accuracy is between 2 and 5 mls, depending on wind speed and rain rate. We also extend the wind speed region in our model for the wind induced sea surface emissivity from currently 20 m/s to 40 mls. The data indicate that the signal starts to saturate above 30 mls. Finally, we make an assessment of the performance of wind direction retrievals from polarimetric radiometers as function of wind speed and rain rate

  8. How do A-train Sensors Inter-Compare in the Retrieval of Above-Cloud Aerosol Optical Depth? A Case Study based Assessment

    NASA Astrophysics Data System (ADS)

    Jethva, H. T.; Torres, O.; Waquet, F.; Chand, D.

    2013-12-01

    Atmospheric aerosols are known to produce a net cooling effect in the cloud-free conditions. However, when present over the reflective cloud decks, absorbing aerosols such as biomass burning generated smoke and wind-blown dust can potentially exert a large positive forcing through enhanced atmospheric heating resulting from cloud-aerosol radiative interactions. The interest on this aspect of aerosol science has grown significantly in the recent years. Particularly, development of the satellite-based retrieval techniques and unprecedented knowledge on the above-cloud aerosol optical depth (ACAOD) is of great relevance. A direct validation of satellite ACAOD is a difficult task primarily due to lack of ample in situ and/or remote sensing measurements of aerosols above cloud. In these circumstances, a comparative analysis on the inter-satellite ACAOD retrievals can be performed for the sack of consistency check. Here, we inter-compare the ACAOD of biomass burning plumes observed from different A-train sensors, i.e., MODIS [Jethva et al., 2013], CALIOP [Chand et al., 2008], POLDER [Waquet et al., 2009], and OMI [Torres et al., 2012]. These sensors have been shown to acquire sensitivity and independent capabilities to detect and retrieve aerosol loading above marine stratocumulus clouds--a kind of situation often found over the southeastern Atlantic Ocean during dry burning season. A systematic one-to-one comparison reveals that, in general, all passive sensors and CALIOP-based research methods retrieve comparable ACAOD over homogeneous cloud fields. The high-resolution sensors (MODIS and CALIOP) are able to retrieve aerosols over thin clouds but with larger discrepancies. Given the different types of sensor measurements processed with different algorithms, a reasonable agreement between them is encouraging. A direct validation of satellite-based ACAOD remains an open challenge for which dedicated field measurements over the region of frequent aerosol/cloud overlap are

  9. Superdiffusion of Carbon by Vacancies Irradiated with Soft X-Rays in CZ Silicon / Superdifūzija Ar Vakancēm Iestarota Ar Mīkstajiem Rentgenstariem CZ Silīcijā

    NASA Astrophysics Data System (ADS)

    Janavičius, A. J.; Mekys, A.; Purlys, R.; Norgėla, Ž.; Daugėla, S.; Rinkūnas, R.

    2015-10-01

    The soft X-ray photons absorbed in the inner K, L, M shells of Si atoms produce photoelectrons and Auger electrons, thus generating vacancies, interstitials and metastable oxygen complexes. The samples of Czochralski silicon crystals covered with 0.1 μm thickness layer of carbon have been irradiated by X-rays using different voltages of Cu anode of the Russian diffractometer DRON-3M. The influence of X-rays on the formation of point defects and vacancy complexes, and their dynamics in Cz-Si crystals have been studied by infrared absorption. We have measured and calculated dynamics of concentration of carbon and interstitial oxygen using FTIR spectroscopy at room temperature after irradiation by soft X-rays. Using transmittance measurements and nonlinear diffusion theory we have calculated densities increasing for substitutional carbon and interstitial oxygen by reactions and very fast diffusion. The superdiffusion coefficients of carbon in silicon at room temperature generated by X-rays are about hundred thousand times greater than diffusion coefficients obtained for thermodiffusion. Rezumējums: Rentgena staru fotoni, absorbēti Si atoma iekšējos slāņos, izstaro fotoelektronus un Ožē elektronus, ģenerējot vakances, starpmezglu silīcija atomus, vakanču un skābekļa kompleksus. Čohraļska silīcija kristāli, kas pārklāti ar oglekli 0.1 μm biezuma kārtā, tika apstaroti ar rentgena stariem, izmantojot krievu difraktometru DRON-3M. Oglekļa un skābekļa difūzija un koncentrāciju izmaiņa silīcijā tika izmērīta izmantojot infrasarkano staru FTIR spektroskopiju. Rentgena staru ģenerētās ļoti ātrās oglekļa difūzijas vai superdifūzijas koeficients istabas temperatūrā silīcijā ir simtiem tūkstošu reižu lielāks nekā termodifūzijas gadījumā.

  10. Cost-effective method for determining the grindability of ceramics. Final report

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Guo, C.; Chand, R.H.

    1997-02-01

    The objective of this program was to develop a cost-effective method to determine the grindability of ceramics leading to cost-effective methods for machining such ceramics. In this first phase of activity, Chand Kare Technical Ceramics directed its efforts towards development of a definition for ceramic grindability, design of grindability-test experiments, and development of a ceramics-grindability test system (CGTS). The grindability study also included the establishment of the correlation between the grindability and conventional grinding practices. The above goals were achieved. A definition based on material removal rate under controlled force grinding was developed. Three prototypes CGTSs were developed and tested;more » suitable design was identified. Based on this, a fully automatic CGTS was developed and is ready for delivery to Oak Ridge National Laboratory. Comprehensive grindability tests for various commercially available engineering ceramics were conducted. Experimental results indicated that ceramics have significantly different grindabilities even though their mechanical properties were not significantly different. This implies that grindability of ceramics can be greatly improved. Further study is needed to establish correlations between microstructure and grindability. Therefore, grindability should be evaluated during the development of new ceramics or improvement of existing ones. In this report, the development of the ceramic-grindability definition, the development of CGTS, extensive grindability results, and the preliminary correlation between grindability and mechanical properties (such as flexural strength, hardness, elastic modulus, and fracture toughness) were summarized.« less

  11. The SPARDIG project - Transforming analogue sparker records from the Norwegian continental shelf into SEG-Y format, first results

    NASA Astrophysics Data System (ADS)

    Schaming, Marc; Rise, Leif; Chand, Shyam; Reidulv, Bøe; Terje Osmundsen, Per; Redfield, Tim

    2017-04-01

    A large number of sparker lines were acquired on the Norwegian continental shelf during the years 1970-1982, by IKU (Sintef Petroleum Research). The responsibility of the analogue seismic database was transferred to NGU in 1998; this included storage of the physical data (original paper rolls and half-scale film copies) and the digital navigation database. The data (from 60°N to 71°30N) were in the early eighties subdivided in 6 data packages, and offered for sale to oil companies as half scale folded paper copies (25 cm width). Navigation applied was mainly Decca Main Chain. The 2014-2016 SPARDIG project (Chand et al., 2016) was supported by NGU, AkerBP (Det Norske), Lundin Norway and the Seabed Project. In the project, IPGS has transformed 374 rolls of analogue sparker lines in 17 different surveys into SEG-Y format. The total length of converted survey lines is 31 261 kilometers. Rolls were scanned at 600 dpi and converted into SEG-Y using the SeisTrans (Caldera software) application (Miles et al., 2007). SeisTrans uses interactive, iterative and repeatable steps in a dedicated graphics window. A first step allows definition of axes and scales, then record time lines (horizontal TWT times and navigation time lines down the record) are picked and removed, and traces are defined. At this step, control tools are available to ensure the quality of the traces. After that, navigation information extracted and interpolated from excel files are added to trace headers. A continuous QC process allows production of SEG-Y files directly readable by interpretation software. The SEG-Y data will be delivered to the Norwegian Discos National Repository (https://portal.diskos.cgg.com/whereoil-data/) but access will be restricted to participants until 1st April 2019. IKU sparker lines have higher resolution than conventional 2D lines, but the penetration is limited. The data sets are complementary to each other. In 2D seismic lines, it is often difficult to delineate units in

  12. The HyMeX Special Observation Period in Central Italy: Precipitation Measurements, Retrieval Techniques and Preliminary Results

    NASA Technical Reports Server (NTRS)

    Gatlin, Patrick; Wingo, Matt; Petersen, Walt; Marzano, Frank Silvio; Baldini, Luca; Picciotti, Errico; Colantonio, Matteo; Barbieri, Stefano; Di Fabio, Saverio; Montopoli, Mario; hide

    2013-01-01

    was covered by a uniquely dense meteorological instrumentation thanks to a synergy between Italian institutions and NASA-GSFC. The following RADARs were operated: a Doppler single-polarization C-band radar located at Mt Midia; the Polar 55C Doppler dual-polarization C-band radar located in Rome; a Doppler C-hand polarimetric radar located at Il Monte (Abnazo); a polarimetric X-band mini-radar in L' Aquila; a polarimetric X-hand portable mini-radar in Rome; a single-polarization X-band mini-radar in Rome. DISDROMETERs were also deployed: 4 Parsivel optical disdrometers in Rome (at Sapienza, CNR-ISAC and CNR-INSEAN); 1 2D-video disdrometer in Rome; 3 Parsivels optical disdrometer respectively in L'Aquila (Abnazo), Avezzano (Abruzzo) and Pescara (Abnazo). Other INSTRUMENTS were available: 1 K-band vertically-pointing micro rain-radar (MRR), 2 Pludix X-band disdrometers, 1 VLF lightning sensor, 1 microwave radiometer at 23-31 GHz in Rome (at Sapienza); the raingauge network with more than 200 stations in Central Italy. Three overpasses in CI were also performed by the Falcon 20 aircraft equipped with the 950Hz cloud radar RASTA Analysis of the SOP1.1 main events in CI will be described by focusing on the raindrop size distribution statistics and its geographical variability. Intercomparison of rainfall estimates from disdrometers, raingauges and radars will be illustrated with the aim to provide a quality-controlled and physically consistent rainfall dataset for meteorological modeling validation and assimilation purposes.

  13. New Quasar Studies Keep Fundamental Physical Constant Constant

    NASA Astrophysics Data System (ADS)

    2004-03-01

    certain spectral lines with present-day values. Quasars are here only used as a beacon - the flame - in the very distant Universe. Interstellar clouds of gas in galaxies, located between the quasars and us on the same line of sight and at distances varying from six to eleven thousand of million light years, absorb parts of the light emitted by the quasars. The resulting spectrum consequently presents dark "valleys" that can be attributed to well-known elements. If the fine-structure constant happens to change over the duration of the light's journey, the energy levels in the atoms would be affected and the wavelengths of the absorption lines would be shifted by different amounts. By comparing the relative gaps between the valleys with the laboratory values, it is possible to calculate alpha as a function of distance from us, that is, as a function of the age of the Universe. These measures are however extremely delicate and require a very good modelling of the absorption lines. They also put exceedingly strong requirements on the quality of the astronomical spectra. They must have enough resolution to allow very precise measurement of minuscule shifts in the spectra. And a sufficient number of photons must be captured in order to provide a statistically unambiguous result. For this, astronomers have to turn to the most advanced spectral instruments on the largest telescopes. This is where the Ultra-violet and Visible Echelle Spectrograph (UVES) and ESO's Kueyen 8.2-m telescope at the Paranal Observatory is unbeatable, thanks to the unequalled spectral quality and large collecting mirror area of this combination. Constant or not? ESO PR Photo 07/04 ESO PR Photo 07/04 Relative Changes with Redshift of the Fine Structure Constant [Preview - JPEG: 496 x 400 pix - 36k] [Normal - JPEG: 991 x 800 pix - 320k] Captions: ESO PR Photo 07/04 shows measured values of the relative change of alpha from the sample of absorption systems studied by Hum Chand and his colleagues, plotted as

  14. An Assessment of Molten Metal Detachment Hazards During Electron Beam Welding in the Space Shuttle Bay at LEO for the International Space Welding Experiment

    NASA Technical Reports Server (NTRS)

    Fragomeni, James M.

    1996-01-01

    possible causes such as welder procedural error, externally applied impulsive forces(s), filler wire entrainment and snap-out, cutting expulsion, and puddle expulsion. Molten metal detachment from either the weld/cut substrate or weld wire could present harm to a astronaut in the space environment it the detachment was ti burn through the fabric of the astronaut Extravehicular Mobility Unit (EMC). In this paper an experimental test was performed in a 4 ft. x 4 ft. vacuum chamber at MSFC enabling protective garment to be exposed to the molten metal drop detachments to over 12 inches. The chamber was evacuated to vacuum levels of at least 1 x 10(exp -5) torr (50 micro-torr) during operation of the 1.0 kW Universal Hand Tool (UHT). The UHT was manually operated at the power mode appropriate for each material and thickness. The space suit protective welding garment, made of Teflon fabric (10 oz. per yard) with a plain weave, was placed on the floor of the vacuum chamber to catch the molten metal drop detachments. A pendulum release mechanism consisting of four hammers, each weighing approximately 3.65 lbs, was used to apply an impact forces to the weld sample/plate during both the electron beam welding and cutting exercises. Measurements were made of the horizontal fling distances of the detached molten metal drops. The volume of a molten metal drop can also be estimated from the size of the cut. Utilizing equations, calculations were made to determine chande in surafec area (Delat a(surface)) for 304 stainless steel for cutting based on measurements of metal drop sizes at the cut edges. For the cut sample of 304 stainless steel based on measurement of the drop size at the edge, Delta-a(surface) was determined to be 0.0054 2 in . Calculations have indicated only a small amount of energy is required to detach a liquid metal drop. For example, approximately only 0.000005 ft-lb of energy is necessary to detach a liquid metal steel drop based on the above theoretical analysis