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Sample records for adams-oliver syndrome aos

  1. Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome.

    PubMed

    Renfree, Kevin J; Dell, Paul C

    2016-07-01

    Adams-Oliver syndrome is a rare congenital condition that should be considered in persons with terminal transverse limb deficiencies and scalp defects (aplasia cutis congenita). Broad phenotypic variability exists in this condition. In its more severe forms, Adams-Oliver syndrome can involve the cardiovascular system, central nervous system, gastrointestinal tract, and genitourinary system and should require prompt evaluation by appropriate subspecialists. Extremity involvement is typically bilateral and asymmetrical, with lower extremities involved more than upper extremities. Brachydactyly is the most common limb defect, and severity ranges from hypoplastic nails to complete absence of the distal limb. The syndrome has been described as resulting from autosomal dominant and recessive modes of inheritance, but most cases are sporadic. No gene has been identified. Although the exact pathogenic mechanism is unknown, a common hypothesis is that a vascular disturbance occurs in watershed areas, such as cranial vertex and limbs, during fetal development.

  2. Genetics Home Reference: Adams-Oliver syndrome

    MedlinePlus

    ... scalp, and skull AOS aplasia cutis congenita with terminal transverse limb defects congenital scalp defects with distal ... of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A. ...

  3. Diffuse Angiopathy in Adams-Oliver syndrome Associated with Truncating DOCK6 Mutations

    PubMed Central

    Lehman, Anna; Stittrich, Anna-Barbara; Glusman, Gustavo; Zong, Zheyuan; Li, Hong; Eydoux, Patrice; Senger, Christof; Lyons, Christopher; Roach, Jared C.; Patel, Millan

    2014-01-01

    Adams-Oliver syndrome (AOS) is a rare malformation syndrome characterized by the presence of two anomalies: aplasia cutis congenita of the scalp and transverse terminal limb defects. Many affected individuals also have additional malformations, including a variety of intracranial anomalies such as periventricular calcification in keeping with cerebrovascular microbleeds, impaired neuronal migration, epilepsy, and microcephaly. Cardiac malformations can be present, as can vascular dysfunction in the forms of cutis marmorata telangiectasia congenita, pulmonary vein stenoses, and abnormal hepatic microvasculature. Elucidated genetic causes include four genes in different pathways, leading to a model of AOS as a multi-pathway disorder. We identified an infant with mild aplasia cutis congenita and terminal transverse limb defects, developmental delay and a severe, diffuse angiopathy with incomplete microvascularization. Whole-genome sequencing documented two rare truncating variants in DOCK6, a gene associated with a type of autosomal recessive AOS that recurrently features periventricular calcification and impaired neurodevelopment. We highlight an unexpectedly high frequency of likely deleterious mutations in this gene in the general population, relative to the rarity of the disease, and discuss possible explanations for this discrepancy. PMID:25091416

  4. Impaired O-Linked N-Acetylglucosaminylation in the Endoplasmic Reticulum by Mutated Epidermal Growth Factor (EGF) Domain-specific O-Linked N-Acetylglucosamine Transferase Found in Adams-Oliver Syndrome*

    PubMed Central

    Ogawa, Mitsutaka; Sawaguchi, Shogo; Kawai, Takami; Nadano, Daita; Matsuda, Tsukasa; Yagi, Hirokazu; Kato, Koichi; Furukawa, Koichi; Okajima, Tetsuya

    2015-01-01

    Epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine (EOGT) is an endoplasmic reticulum (ER)-resident O-linked N-acetylglucosamine (O-GlcNAc) transferase that acts on EGF domain-containing proteins such as Notch receptors. Recently, mutations in EOGT have been reported in patients with Adams-Oliver syndrome (AOS). Here, we have characterized enzymatic properties of mouse EOGT and EOGT mutants associated with AOS. Simultaneous expression of EOGT with Notch1 EGF repeats in human embryonic kidney 293T (HEK293T) cells led to immunoreactivity with the CTD110.6 antibody in the ER. Consistent with the GlcNAc modification in the ER, the enzymatic properties of EOGT are distinct from those of Golgi-resident GlcNAc transferases; the pH optimum of EOGT ranges from 7.0 to 7.5, and the Km value for UDP N-acetylglucosamine (UDP-GlcNAc) is 25 μm. Despite the relatively low Km value for UDP-GlcNAc, EOGT-catalyzed GlcNAcylation depends on the hexosamine pathway, as revealed by the increased O-GlcNAcylation of Notch1 EGF repeats upon supplementation with hexosamine, suggesting differential regulation of the luminal UDP-GlcNAc concentration in the ER and Golgi. As compared with wild-type EOGT, O-GlcNAcylation in the ER is nearly abolished in HEK293T cells exogenously expressing EOGT variants associated with AOS. Introduction of the W207S mutation resulted in degradation of the protein via the ubiquitin-proteasome pathway, although the stability and ER localization of EOGTR377Q were not affected. Importantly, the interaction between UDP-GlcNAc and EOGTR377Q was impaired without adversely affecting the acceptor substrate interaction. These results suggest that impaired glycosyltransferase activity in mutant EOGT proteins and the consequent defective O-GlcNAcylation in the ER constitute the molecular basis for AOS. PMID:25488668

  5. Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

    PubMed Central

    Southgate, Laura; Machado, Rajiv D.; Snape, Katie M.; Primeau, Martin; Dafou, Dimitra; Ruddy, Deborah M.; Branney, Peter A.; Fisher, Malcolm; Lee, Grace J.; Simpson, Michael A.; He, Yi; Bradshaw, Teisha Y.; Blaumeiser, Bettina; Winship, William S.; Reardon, Willie; Maher, Eamonn R.; FitzPatrick, David R.; Wuyts, Wim; Zenker, Martin; Lamarche-Vane, Nathalie; Trembath, Richard C.

    2011-01-01

    Regulation of cell proliferation and motility is essential for normal development. The Rho family of GTPases plays a critical role in the control of cell polarity and migration by effecting the cytoskeleton, membrane trafficking, and cell adhesion. We investigated a recognized developmental disorder, Adams-Oliver syndrome (AOS), characterized by the combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD). Through a genome-wide linkage analysis, we detected a locus for autosomal-dominant ACC-TTLD on 3q generating a maximum LOD score of 4.93 at marker rs1464311. Candidate-gene- and exome-based sequencing led to the identification of independent premature truncating mutations in the terminal exon of the Rho GTPase-activating protein 31 gene, ARHGAP31, which encodes a Cdc42/Rac1 regulatory protein. Mutant transcripts are stable and increase ARHGAP31 activity in vitro through a gain-of-function mechanism. Constitutively active ARHGAP31 mutations result in a loss of available active Cdc42 and consequently disrupt actin cytoskeletal structures. Arhgap31 expression in the mouse is substantially restricted to the terminal limb buds and craniofacial processes during early development; these locations closely mirror the sites of impaired organogenesis that characterize this syndrome. These data identify the requirement for regulated Cdc42 and/or Rac1 signaling processes during early human development. PMID:21565291

  6. Autosomal dominant aplasia cutis in three generations and one case with preaxial polydactyly in the last generation.

    PubMed

    Yağci-Küpeli, B; Çağlar, K; Büyük, S; Balci, S

    2011-01-01

    Aplasia Cutis Congenita (ACC), characterized by the focal absence of the skin and skin adnexia resulting from a developmental failure, may occur as part of Adams-Oliver Syndrome (AOS) which can be defined as a congenital inherited disorder, consisting of terminal transverse limb defects and vascular anomalies in addition to ACC. Coexistence of isolated preaxial polydactyly without terminal extremity defect and ACC is extremely rare. Furthermore, ACC and preaxial polydactyly has not been reported previously. Here we report a three-generation family with autosomal dominant aplasia cutis congenita and preaxial polydactyly in the last generation and discuss whether it is a coincidence or not.

  7. Retinal AO OCT

    NASA Astrophysics Data System (ADS)

    Zawadzki, Robert J.; Miller, Donald T.

    The last two decades have witnessed extraordinary advances in optical technology to image noninvasively and at high resolution the posterior segment of the eye. Two of the most impactful technological advancements over this period have arguably been optical coherence tomography (OCT) and adaptive optics (AO). The strengths of these technologies complement each other and when combined have been shown to provide unprecedented, micron-scale resolution (<3 μm) in all three dimensions and sensitivity to image the cellular retina in the living eye. This powerful extension of OCT, that is AO-OCT, is the focus of this chapter. It presents key aspects of designing and implementing AO-OCT systems. Particular attention is devoted to the relevant optical properties of the eye that ultimately define these systems, AO componentry and operation tailored for ophthalmic use, and of course use of the latest technologies and methods in OCT for ocular imaging. It surveys the wide range of AO-OCT designs that have been developed for retinal imaging, with AO integrated into every major OCT design configuration. Finally, it reviews the scientific and clinical studies reported to date that show the exciting potential of AO-OCT to image the microscopic retina and fundus in ways not previously possible with other noninvasive methods and a look to future developments in this rapidly growing field.

  8. Prader-Willi Syndrome

    MedlinePlus

    ... moderate impairment in intellectual functioning, such as thinking, reasoning and problem-solving (intellectual disability), is a common ... Genetics in Medicine. 2012;14:10. Scheimann AO. Clinical features, diagnosis, and treatment of Prader-Willi syndrome. ...

  9. AO Group Annual Report

    SciTech Connect

    Olivier, S

    2005-10-04

    The Adaptive Optics (AO) Group in I Division develops and tests a broad range of advanced wavefront control technologies. Current applications focus on: Remote sensing, High power lasers, Astronomy, and Human vision. In the area of remote sensing, the AO Group leads a collaborative effort with LLNL's Nonproliferation, Arms Control & International Security (NAI) Directorate on Enhanced Surveillance Imaging. The ability to detect and identify individual people or vehicles from long-range is an important requirement for proliferation detection and homeland security. High-resolution imaging along horizontal paths through the atmosphere is limited by turbulence, which blurs and distorts the image. For ranges over {approx}one km, visible image resolution can be reduced by over an order of magnitude. We have developed an approach based on speckle imaging that can correct the turbulence-induced blurring and provide high resolution imagery. The system records a series of short exposure images which freeze the atmospheric effects. We can then estimate the image magnitude and phase using a bispectral estimation algorithm which cancels the atmospheric effects while maintaining object information at the diffraction limit of the imaging system.

  10. Cometas: Das Lendas aos Fatos

    NASA Astrophysics Data System (ADS)

    Voelzke, M. R.

    O descobrimento de cometas, devido ao seu aparecimento espetacular, tem registro nas mais antigas culturas humanas. A primeira referência situa-se no ano de 1095 antes de Cristo [a.C.; HO; HO, 1962]. A quantidade de registros de descobrimentos cometários, principalmente provenientes do território chinês em particular e do oriente em geral, aumentou gradualmente a partir do quarto século depois de Cristo (d.C.). É de origem chinesa a primeira referência ao cometa P/Halley no ano de 240 a.C. [VOELZKE, 1993]. Com o desenvolvimento da astronomia relativamente às técnicas observacionais os descobrimentos bem como as observações cometárias aumentaram sensivelmente a partir do século XVII, sendo que a partir do século XIX um novo incremento ocorreu devido ao emprego da fotografia e a resultante melhora de sensibilidade na observação.

  11. Aerosol Observing System (AOS) Handbook

    SciTech Connect

    Jefferson, A

    2011-01-17

    The Aerosol Observing System (AOS) is a suite of in situ surface measurements of aerosol optical and cloud-forming properties. The instruments measure aerosol properties that influence the earth’s radiative balance. The primary optical measurements are those of the aerosol scattering and absorption coefficients as a function of particle size and radiation wavelength and cloud condensation nuclei (CCN) measurements as a function of percent supersaturation. Additional measurements include those of the particle number concentration and scattering hygroscopic growth. Aerosol optical measurements are useful for calculating parameters used in radiative forcing calculations such as the aerosol single-scattering albedo, asymmetry parameter, mass scattering efficiency, and hygroscopic growth. CCN measurements are important in cloud microphysical models to predict droplet formation.

  12. SRAO: the first southern robotic AO system

    NASA Astrophysics Data System (ADS)

    Law, Nicholas M.; Ziegler, Carl; Tokovinin, Andrei

    2016-08-01

    We present plans for SRAO, the first Southern Robotic AO system. SRAO will use AO-assisted speckle imaging and Robo-AO-heritage high efficiency observing to confirm and characterize thousands of planet candidates produced by major new transit surveys like TESS, and is the first AO system to be capable of building a comprehensive several-thousand-target multiplicity survey at sub-AU scales across the main sequence. We will also describe results from Robo-AO, the first robotic LGS-AO system. Robo-AO has observed tens of thousands of Northern targets, often using a similar speckle or Lucky-Imaging assisted mode. SRAO will be a moderate-order natural-guide-star adaptive optics system which uses an innovative photoncounting wavefront sensor and EMCCD speckle-imaging camera to guide on faint stars with the 4.1m SOAR telescope. The system will produce diffraction-limited imaging in the NIR on targets as faint as mν = 16. In AO-assisted speckle imaging mode the system will attain the 30-mas visible diffraction limit on targets at least as faint as mν = 17. The system will be the first Southern hemisphere robotic adaptive optics system, with overheads an order of magnitude smaller than comparable systems. Using Robo-AO's proven robotic AO software, SRAO will be capable of observing overheads on sub-minute scales, allowing the observation of at least 200 targets per night. SRAO will attain three times the angular resolution of the Palomar Robo-AO system in the visible.

  13. MagAO: status and science

    NASA Astrophysics Data System (ADS)

    Morzinski, Katie M.; Close, Laird M.; Males, Jared R.; Hinz, Phil M.; Esposito, Simone; Riccardi, Armando; Briguglio, Runa; Follette, Katherine B.; Pinna, Enrico; Puglisi, Alfio; Vezilj, Jennifer; Xompero, Marco; Wu, Ya-Lin

    2016-07-01

    "MagAO" is the adaptive optics instrument at the Magellan Clay telescope at Las Campanas Observatory, Chile. MagAO has a 585-actuator adaptive secondary mirror and 1000-Hz pyramid wavefront sensor, operating on natural guide stars from R-magnitudes of -1 to 15. MagAO has been in on-sky operation for 166 nights since installation in 2012. MagAO's unique capabilities are simultaneous imaging in the visible and infrared with VisAO and Clio, excellent performance at an excellent site, and a lean operations model. Science results from MagAO include the first ground-based CCD image of an exoplanet, demonstration of the first accreting protoplanets, discovery of a new wide-orbit exoplanet, and the first empirical bolometric luminosity of an exoplanet. We describe the status, report the AO performance, and summarize the science results. New developments reported here include color corrections on red guide stars for the wavefront sensor; a new field stop stage to facilitate VisAO imaging of extended sources; and eyepiece observing at the visible-light diffraction limit of a 6.5-m telescope. We also discuss a recent hose failure that led to a glycol coolant leak, and the recovery of the adaptive secondary mirror (ASM) after this recent (Feb. 2016) incident.

  14. [Syndromes 2. Pfeiffer syndrome].

    PubMed

    Freihofer, H P

    1998-07-01

    Acrocephalosyndactylias are syndromes characterized by abnormalities of the head (craniosynostosis), the face (hypertelorism, retromaxillism), hands and feet (cutaneous or bony syndactyly). Inheritance is autosomal dominant, but spontaneous cases are described also. The group is divided into several syndromes with varying penetrance and expressivity. As an example of an acrocephalosyndactylia is the Pfeiffer syndrome presented.

  15. Moebius Syndrome

    MedlinePlus

    ... children with Moebius syndrome have some degree of autism. There are four recognized categories of Moebius syndrome: ... children with Moebius syndrome have some degree of autism. There are four recognized categories of Moebius syndrome: ...

  16. PSF reconstruction for AO photometry and astrometry

    NASA Astrophysics Data System (ADS)

    Ascenso, J.; Neichel, B.; Silva, M.; Fusco, T.; Garcia, P.

    2015-12-01

    Extracting accurate photometry (and astrometry) from images taken with adaptive optics assisted instruments is particularly challenging. Current post-processing tools are not prepared to achieve high accuracy from AO data, especially in limiting cases of crowded fields and marginally resolved sources. We quantify the limitations of these tools with synthetic images, and present a proof-of-concept study showing the potential of using reconstructed PSFs from the (GL)AO system telemetry to increase the measured photometric accuracy. We show that the photometric accuracy is significantly improved with a good PSF reconstruction in considerably crowded regions. We demonstrate the need for a dedicated post-processing tool that incorporates available information about the PSF, as well as the ability to adjust to the spatial variations of the PSF characteristic of AO data.

  17. Twelve thousand laser-AO observations: first results from the Robo-AO large surveys

    NASA Astrophysics Data System (ADS)

    Law, Nicholas M.; Baranec, Christoph; Riddle, Reed L.

    2014-07-01

    Robo-AO is the first AO system which can feasibly perform surveys of thousands of targets. The system has been operating in a fully robotic mode on the Palomar 1.5m telescope for almost two years. Robo-AO has completed nearly 12,000 high-angular-resolution observations in almost 20 separate science programs including exoplanet characterization, field star binarity, young star binarity and solar system observations. We summarize the Robo-AO surveys and the observations completed to date. We also describe the data-reduction pipeline we developed for Robo-AO—the first fully-automated AO data-reduction, point-spread-function subtraction and companion-search pipeline.

  18. Characterization of an AO-OCT system

    SciTech Connect

    Evans, J W; Zawadzki, R J; Jones, S; Olivier, S; Werner, J S

    2007-07-26

    Adaptive optics (AO) and optical coherence tomography (OCT) are powerful imaging modalities that, when combined, can provide high-volumetric-resolution, images of the retina. The AO-OCT system at UC Davis has been under development for 2 years and has demonstrated the utility of this technology for microscopic, volumetric, in vivo retinal imaging [1]. The current system uses an AOptix bimorph deformable mirror (DM) for low-order, high-stroke correction [2] and a 140-actuator Boston Micromachines DM for high-order correction [3]. We are beginning to investigate the potential for increasing the image contrast in this system using higher-order wavefront correction. The first step in this analysis is to quantify the residual wavefront error (WFE) in the current system. Developing an error budget is a common tool for improved performance and system design in astronomical AO systems [4, 5]. The process for vision science systems is also discussed in several texts e.g. [6], but results from this type of analysis have rarely been included in journal articles on AO for vision science. Careful characterization of the AO system will lead to improved performance and inform the design of a future high-contrast system. In general, an AO system error budget must include an analysis of three categories of residual WFE: errors in measuring the phase, errors caused by limitations of the DM(s), and errors introduced by temporal variation. Understanding the mechanisms and relative size of these errors is critical to improving system performance. In this paper we discuss the techniques for characterizing these error sources in the AO-OCT system. It is useful to first calculate an error budget for the simpler case using a model eye, and then add the additional errors introduced for the case of a human subject. Measurement error includes calibration error, wavefront sensor (WFS) CCD noise, and sampling errors. Calibration errors must be measured by an external system. Typically this

  19. Dressler's Syndrome

    MedlinePlus

    ... syndrome may also be called postpericardiotomy syndrome, post-myocardial infarction syndrome and post-cardiac injury syndrome. With recent ... Dressler's syndrome. References LeWinter MM. Pericardial complications of myocardial infarction. http://www.uptodate.com/home. Accessed May 27, ...

  20. Cushing's Syndrome

    MedlinePlus

    ... example, polycystic ovary syndrome can cause menstrual disturbances, weight gain beginning in adolescence, excess hair growth, and impaired insulin action and diabetes. Metabolic syndrome-a combination of ...

  1. MEMS DM development at Iris AO, Inc.

    NASA Astrophysics Data System (ADS)

    Helmbrecht, Michael A.; He, Min; Kempf, Carl J.; Besse, Marc

    2011-03-01

    Iris AO is actively developing piston-tip-tilt (PTT) segmented MEMS deformable mirrors (DM) and adaptive optics (AO) controllers for these DMs. This paper discusses ongoing research at Iris AO that has advanced the state-of-the-art of these devices and systems over the past year. Improvements made to open-loop operation and mirror fabrication enables mirrors to open-loop flatten to 4 nm rms. Additional testing of an anti snap-in technology was conducted and demonstrates that the technology can withstand 100 million snap-in events without failure. Deformable mirrors with dielectric coatings are shown that are capable of handling 630 W/cm2 of incident laser power. Over a localized region on the segment, the dielectric coatings can withstand 100kW/cm2 incident laser power for 30 minutes. Results from the first-ever batch of PTT489 DMs that were shipped to pilot customers are reported. Optimizations made to the open-loop PTT controller are shown to have latencies of 157.5 μs and synchronous array update rates of nearly 6.5 kHz. Finally, plans for the design and fabrication of the next-generation PTT939 DM are presented.

  2. Deformable mirror designs for extreme AO (XAO)

    NASA Astrophysics Data System (ADS)

    Cavaco, Jeffrey; Wirth, Allan

    2014-08-01

    One of the science missions for the next generation of extremely large ground based telescopes (30-42m apertures) is the imaging and spectroscopy of exoplanets. To achieve that goal an Adaptive Optics (AO) subsystem with a very large number of corrected modes is required. To provide contrast ratios in the range of 10-9 or better for a 42m telescope an AO system with 25,000 to 60,000 channels will be needed. This is approximately an order of magnitude beyond the current state of the art. Adaptive Optics Associates Xinetics has developed the Photonex Module Deformable Mirror (DM) technology specifically to address the needs of extreme AO for high contrast applications. A Photonex Module is a monolithic block of electrostrictive ceramic in which a high density of individually addressable actuators are formed by screen printing of electrodes and partial wire saw cutting of the ceramic. The printed electrode structures also allow all electrical connections to be made at the back surface of the module via flex circuits. Actuator spacings of 1mm or less have been achieved using this approach. The individual modules can be edge butted and bonded to achieve high actuator count. The largest DMs fabricated to date have 4096 actuators in a 64X64mm array. In this paper the engineering challenges in extending this technology by a factor of ten or more in actuator count will be discussed. A conceptual design for a DM suitable for XAO will be presented. Approaches for a support structure that will maintain the low spatial frequency surface figure of this large (~0.6m) DM and for the electrical interface to the tens of thousands of actuators will be discussed. Finally, performance estimates will be presented.

  3. AO corrected satellite imaging from Mount Stromlo

    NASA Astrophysics Data System (ADS)

    Bennet, F.; Rigaut, F.; Price, I.; Herrald, N.; Ritchie, I.; Smith, C.

    2016-07-01

    The Research School of Astronomy and Astrophysics have been developing adaptive optics systems for space situational awareness. As part of this program we have developed satellite imaging using compact adaptive optics systems for small (1-2 m) telescopes such as those operated by Electro Optic Systems (EOS) from the Mount Stromlo Observatory. We have focused on making compact, simple, and high performance AO systems using modern high stroke high speed deformable mirrors and EMCCD cameras. We are able to track satellites down to magnitude 10 with a Strehl in excess of 20% in median seeing.

  4. AO Observations of Three Powerful Radio Galaxies

    SciTech Connect

    de Vries, W; van Bruegel, W; Quirrenbach, A

    2002-08-01

    The host galaxies of powerful radio sources are ideal laboratories to study active galactic nuclei (AGN). The galaxies themselves are among the most massive systems in the universe, and are believed to harbor supermassive black holes (SMBH). If large galaxies are formed in a hierarchical way by multiple merger events, radio galaxies at low redshift represent the end-products of this process. However, it is not clear why some of these massive ellipticals have associated radio emission, while others do not. Both are thought to contain SMBHs, with masses proportional to the total luminous mass in the bulge. It either implies every SMBH has recurrent radio-loud phases, and the radio-quiet galaxies happen to be in the ''low'' state, or that the radio galaxy nuclei are physically different from radio-quiet ones, i.e. by having a more massive SMBH for a given bulge mass. Here we present the first results from our adaptive optics imaging and spectroscopy pilot program on three nearby powerful radio galaxies. Initiating a larger, more systematic AO survey of radio galaxies (preferentially with Laser Guide Star equipped AO systems) has the potential of furthering our understanding of the physical properties of radio sources, their triggering, and their subsequent evolution.

  5. Diferentes Metodologias Aplicadas ao Ensino de Astronomia

    NASA Astrophysics Data System (ADS)

    Albrecht, E.; Voelzke, M. R.

    2007-08-01

    Espera-se que o educando ao final da educação básica, adquira uma compreensão atualizada das hipóteses, modelos e formas de investigação sobre a origem e evolução do Universo em que vive. O presente trabalho tem como principal objetivo compreender dentre três práticas pedagógicas adotadas no Ensino de Astronomia, na terceira série do Ensino Médio, da Escola Estadual Colônia dos Pescadores, qual melhor cumpre o papel de formação e aprendizagem para vida. A pesquisa preliminar foi através de um questionário onde o intuito foi diagnosticar o conhecimento já existente acerca do tema em questão. O questionário é composto de vinte questões dissertativas e objetivas, onde os educandos das três turmas envolvidas o responderam. Este trabalho utiliza as seguintes metodologias: a tradicional, onde o professor é um repassador de informações, fazendo uso exclusivo de lousa e giz; a segunda também de forma tradicional, porém com auxílio de multimídia para desenvolvimento das aulas e aterceira sob forma de seminários, elaborados e apresentados pelos educandos, no qual o educador faz apenas as intervenções necessárias. Ao final do trabalho os alunos responderão novamente o questionário inicial para diagnosticar dentre as três metodologias utilizadas qual apresentou melhor resultado. Os resultados preliminares obtidos, já podem ser observados e, dos 119 alunos entrevistados, as respostas obtidas são as mais diversas e evidenciam que a grande maioria nunca teve em sua vida escolar o tema Astronomia. Ao serem questionados se já haviam estudado Astronomia as respostas foram: turma A: sim 43%; turma B: sim: 21%; turma C: sim: 24%. Porém quando questionados a respeito do significado de Astronomia observou-se que: turma A: 100% de acertos; turma B: 64% acertos; turma C: 84% de acertos, demonstrando claramente a aprendizagem em diferentes esferas, não dependendo unicamente da escola. Até o presente momento, verificou-se que há interesse em

  6. AO Infrared Imaging of M71 Core

    NASA Astrophysics Data System (ADS)

    Ruberg, Andres; Richer, H.; Brewer, J.; Davis, S.; Hickson, P.; Knigge, C.; Dieball, A.; Hurley, J.; Shara, M.; Hansen, B.; Gebhardt, K.; Fahlman, G.

    2007-05-01

    In this poster we present infrared H and K AO data taken with ALTAIR/NIRI on Gemini North of the globular cluster Messier 71. This data represents approximately 22ks of observations in H and 17ks in K, in a field 22x22 arcsec centered on the core of the cluster. These data were secured under superb conditions and will provide an excellent opportunity to pursue our scientific goals. These goals include the observation of the end of hydrogen-burning main sequence in a moderately metal-rich globular cluster and, by fitting the brightness profile and looking for deviations from a King model, we will search for evidence for a central black hole in this cluster.

  7. Turner Syndrome

    MedlinePlus

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  8. Alport syndrome

    MedlinePlus

    ... Autosomal dominant Alport syndrome (ADAS) -- This is the rarest type. Males and females have equally severe disease. Symptoms KIDNEYS With all types of Alport syndrome the kidneys are affected. The tiny blood vessels in the glomeruli of the kidneys are ...

  9. Reye syndrome

    MedlinePlus

    ... syndrome has occurred in children who were given aspirin when they had chickenpox or the flu. Reye syndrome has become very rare. This is because aspirin is no longer recommended for routine use in ...

  10. Rett Syndrome

    MedlinePlus

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  11. Tourette Syndrome

    MedlinePlus

    ... will order several other tests like blood tests, EEG, and brain scans. How Is Tourette Syndrome Treated? ... connected to Tourette syndrome, like ADHD and anxiety. Stress or being upset can make the tics worse, ...

  12. LEOPARD syndrome

    MedlinePlus

    LEOPARD syndrome is a very rare inherited disorder in which there are problems with the skin, face, ... LEOPARD syndrome is inherited as an autosomal dominant trait. This means the person only needs the abnormal ...

  13. Myelodysplastic Syndromes

    MedlinePlus

    ... help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy ... can lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are ...

  14. Marfan Syndrome

    MedlinePlus

    ... Like for Kids With Marfan Syndrome? en español Síndrome de Marfan Evan couldn't wait for school ... for Marfan syndrome runs in families, getting passed down to children from parents who have the disease. ...

  15. Edwards' syndrome.

    PubMed

    Crawford, Doreen; Dearmun, Annette

    2016-12-08

    Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.

  16. Proteus Syndrome

    MedlinePlus

    ... Donate Cash Donation Life Insurance Gift Matching Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome ... approved by the Proteus Syndrome Foundation Assessment and management of the orthopedic and other complications of Proteus ...

  17. Apert Syndrome.

    PubMed

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  18. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  19. Fraser syndrome.

    PubMed

    Kalpana Kumari, M K; Kamath, Sulata; Mysorekar, Vijaya V; Nandini, G

    2008-01-01

    Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.

  20. LGS-AO Imaging of Every Kepler Planet Candidate: the Robo-AO KOI Survey

    NASA Astrophysics Data System (ADS)

    Baranec, Christoph; Law, Nicholas; Morton, Timothy; Ziegler, Carl; Nofi, Larissa; Atkinson, Dani; Riddle, Reed

    2015-12-01

    The Robo-AO Kepler Planetary Candidate Survey is observing every Kepler planet candidate host star with laser adaptive optics imaging, to search for blended nearby stars which may be physically associated companions and/or responsible for transit false positives. We will present the results from searching for companions around over 3,000 Kepler planet hosts in 2012-2015. We will describe our first data release covering 715 planet candidate hosts, and give a preview of ongoing results including improved statistics on the likelihood of false positive planet detections in the Kepler dataset, many new planets in multiple star systems, and new exotic multiple star systems containing Kepler planets. We will also describe the automated Robo-AO survey data reduction methods, including a method of using the large ensemble of target observations as mutual point-spread-function references, along with a new automated companion-detection algorithm designed for extremely large adaptive optics surveys. Our first data release covered 715 objects, searching for companions from 0.15” to 2.5” separation with contrast up to 6 magnitudes. We measured the overall nearby-star-probability for Kepler planet candidates to be 7.4+/-1.0%, and we will detail the variations in this number with stellar host parameters. We will also discuss plans to extend the survey to other transiting planet missions such as K2 and TESS as Robo-AO is in the process of being re-deployed to the 2.1-m telescope at Kitt Peak for 3 years and a higher-contrast Robo-AO system is being developed for the 2.2-m UH telescope on Maunakea.

  1. Review of AO calibrations, or how to best educate your AO system

    NASA Astrophysics Data System (ADS)

    Kolb, Johann

    2016-07-01

    If the Real-Time Computer is the heart of an AO system, the Wavefront Sensor (WFS) its eyes, the Deformable Mirror (DM) its hands and the control strategy its nervous system, the sum of all those parts is made into a harmonious entity thanks to calibrations. This paper does not have the ambition to provide an overview of all the currently existing calibration strategies, but rather to focus on a few challenging problems and their recent evolution in the era of adaptive telescopes, mostly based on the experience of ESO's Adaptive Optics Instruments in general and the AO Facility in particular. Single most important calibration in post-focal AO system, the recording of the Interaction Matrix (IM) between WFS and DM has since long evolved to use fast modulation techniques, has shown to be feasible on-sky and is now almost free from measurements thanks to its pseudo-synthetic generation, quasi-mandatory solution in an adaptive telescope. Pseudo- because it requires an unprecedented knowledge of the components' characteristics, especially the WFS, DM and the optical registration between the two. Bigger telescopes and the use of Laser Guide Stars (LGS) also mean that the properties of the system will change in time and thus need to be constantly updated thanks to online diagnosis tools for spot size measurement, atmosphere monitoring, Wavefront Sensing and control optimization. New loops come into play like the one to minimize LGS Jitter and the one taking over the telescope active optics by means of offloading the DM low orders, and they all require calibration. More calibration means more time and one has to carefully balance the calibrations that require precious telescope night time, day time or for the best, no telescope time at all. Their importance sometimes underestimated, calibrations have repeatedly shown to be a vital part in the optimum functioning of present and future AO systems.

  2. [Autoinflammatory syndrome].

    PubMed

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.

  3. Directly Imaging Planets with SCExAO: First Results

    NASA Astrophysics Data System (ADS)

    Currie, Thayne M.; Guyon, Olivier; Jovanovic, Nemanja; Lozi, Julien; Tamura, Motohide; Kudo, Tomoyuki; Uyama, Taichi; Garcia, Eugenio

    2017-01-01

    We present the first science results from the newly commissioned Subaru Coronagraphic Extreme Adaptive Optics project, an experimental system dedicated to image faint jovian planets around nearby stars. SCExAO is now achieving true extreme AO capability. We describe the typical performance of SCExAO, the first images of benchmark exoplanets and planet-forming disks, and SCExAO’s first science results. Finally, we briefly chart the path forward for SCExAO to achieve its full scientific capability, including imaging mature planets in reflected light.

  4. Electromagnetic DM technology meets future AO demands

    NASA Astrophysics Data System (ADS)

    Hamelinck, Roger; Rosielle, Nick; Steinbuch, Maarten; Doelman, Niek

    New deformable mirror technology is developed by the Technische Universiteit Eindhoven, Delft University of Technology and TNO Science and Industry. Several prototype adaptive deformable mirrors are realized mirrors, up to 427 actuators and ∅150mm diameter, with characteristics suitable for future AO systems. The prototypes consist of a 100µm thick, continuous facesheet on which low voltage, electromagnetic, push-pull actuators impose out-of-plane displacements. The variable reluctance actuators with ±10µm stroke and nanometer resolution are located in a standard actuator module. Each module with 61 actuators connects to a single PCB with dedicated, 16 bit, PWM based, drivers. A LVDS multi-drop cable connects up to 32 actuator modules. With the actuator module, accompanying PCB and multi-drop system the deformable mirror technology is made modular in its mechanics and electronics. An Ethernet-LVDS bridge enables any commercial PC to control the mirror using the UDP standard. Latest results of the deformable mirror technology development are presented.

  5. Anterior opercular syndrome induced by Epstein-Barr virus encephalitis.

    PubMed

    Matsushima, Takashi; Nishioka, Kenya; Tanaka, Ryota; Yokoyama, Kazumasa; Hattori, Nobutaka

    2016-01-01

    We report a 19-year-old female presenting with fever, drooling, anarthria, and voluntary facial movement disruption, characteristic of anterior opercular syndrome (AOS). Serological examination revealed Epstein-Barr virus (EBV) infection following acute encephalitis with severe ataxia. A single-photon emission computerized tomography (SPECT) examination indicated hypoperfusion in the left perisylvian region, bilateral thalamus, occipital lobe, and cerebellum. This is the first report of AOS related to EBV encephalitis. SPECT was a useful method for detecting the damaged region of the operculum. In addition, AOS is a clinically distinct entity that may help us understand the mechanisms of language circuits within the operculum.

  6. NFIRAOS Multiconjugate AO System for TMT

    NASA Astrophysics Data System (ADS)

    Herriot, Glen; Andersen, David; Atwood, Jenny; Byrnes, Peter; Boyer, Corinne; Caputa, Kris; Correia, Carlos; Dunn, Jennifer; Ellerbroek, Brent; Fitzsimmons, Joeleff; Gilles, Luc; Hickson, Paul; Hill, Alexis; Pazder, John; Reshetov, Vlad; Smith, Malcolm; Véran, Jean-Pierre; Wang, Lianqi; Wevers, Ivan

    2011-09-01

    NFIRAOS, the Adaptive Optics system for the Thirty Meter Telescope, is a Multiconjugate Adaptive Optics System of order 60x60 with two deformable mirrors and six laser guide star wavefront sensors. NFIRAOS is 8 x 10 x 5 m (L x W x H) on a Nasmyth Platform and supports three client instruments operating over 0.8 - 2.5 μm wavelength range. In this paper we discuss: NFIRAOS' requirements and architecture; changes to NFIRAOS since the last AO4ELT conference; interior details of NFIRAOS; interfaces to instruments; integration and verification plans. Top-level science requirements include 50% sky coverage at the galactic pole with <187 nm wavefront error. Astrometry is an important science driver - to minimize image distortion, we have recently revised the optical design to use four off-axis paraboloidal mirrors. We have vastly simplified the laser WFS zoom optics and moved them inside the cold enclosure. To control image magnification, differential magnification and tip/tilt/focus, NFIRAOS' client instruments have three low-order warfront sensors monitoring near-infrared natural guide stars. These stars are sharpened by NFIRAOS, which assists sky coverage. NFIRAOS will have high throughput and low thermal background - it will be cooled to -30 °C. The insulated walls have a buried cold plate to intercept heat leakage and isothermalize the interior of NFIRAOS. Instruments have stringent requirements on heat leakage and must provide their own rotator and interface to NFIRAOS, including a rotating seal. For wavelength and flat field calibration of client instruments, a NFIRAOS Science Calibration Unit (NSCU) feeds light in the entrance window, through NFIRAOS, to instruments. Inside NFIRAOS are deployable light sources simulating natural and laser guide stars, a focal plane mask with pinholes illuminated by the NSCU, as well as a turbulence phase screen. A prototype screen has been manufactured by magneto-rheological machining. We are currently updating the NFIRAOS

  7. WIYN active optics: a platform for AO

    NASA Astrophysics Data System (ADS)

    Code, Arthur D.; Claver, Charles F.; Goble, Larry W.; Jacoby, George H.; Sawyer, David G.

    1998-09-01

    The WIYN 3.5 meter telescope is situated on the southwest ridge of Kitt Peak yielding excellent atmosphere seeing conditions. As such, the telescope and enclosure design was directed towards exploiting this feature. The primary mirror was spun cast and figured by the Steward Observatory Mirror Laboratory and the secondary mirror by Contraves. In both cases the performance exceeded the design specifications. The borosilicate primary is actively temperature controlled to within 0.2 C of the desired temperature, typically 0.5 degrees C below the ambient air. The telescope structure is also temperature controlled and the enclosure is opened to the outside ion all sides, which all heat sources are vented to ducts carrying air downwind of the facility. The primary mirror is actively controlled for low order aberrations by 66 axial actuators which are adjusted open loop via force matrix look-up tables and closed loop via real-time wavefront curvature sensing measurements. The active optics also included real-time collimation and focus control. The telescope drive and guider are capable of providing tracking to a few hundredths of a second of arc. By employing active telescope control at this level, it is possible to maintain telescope and local wavefront distortion to a level where atmospheric effects dominate the image quality. Since a significant fraction of the power in the atmospheric disturbances is contained in image motion the first step in adaptive optics control will be simple tip tilt. Studies of higher order AO system are being carried out, as well as additional test characterizing the telescope and site. It is intended to continue such studies in an attempt to establish long term variances.

  8. [Autoinflammatory syndromes].

    PubMed

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases.

  9. Robo-AO: Performance and Characterization at Palomar Observatory

    NASA Astrophysics Data System (ADS)

    Tendulkar, Shriharsh P.; Baranec, C.; Riddle, R. L.; Ramaprakash, A. N.; Law, N. M.; Kulkarni, S. R.; Dekany, R.; Bui, K.; Davis, J.; Burse, M.; Das, H.; Punnadi, S.; Chordia, P.

    2013-01-01

    Hosted at the Palomar 60-inch telescope, Robo-AO is the world's first completely autonomous, laser-beacon supported adaptive optics (AO) system, delivering diffraction-limited images in the visible and IR wavelengths. With simultaneous turbulence monitoring using a MASS-DIMM instrument, we have characterized the performance of Robo-AO as a function of local seeing, turbulence profile, laser return power and the brightness of the tip-tilt star. We shall present the various AO metrics: The full-width at half maxima of the point spread function, the Strehl ratio, the isoplanatic angle and their variations with the atmospheric and operating conditions. Strategies for optimizing robotic AO observations based on varying conditions will be discussed.

  10. Gorlin syndrome.

    PubMed

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

    2013-05-01

    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  11. Overgrowth Syndromes

    PubMed Central

    Edmondson, Andrew C.; Kalish, Jennifer M.

    2015-01-01

    Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall–Smith, Weaver, Simpson–Golabi–Behmel, Perlman, Bannayan–Riley–Ruvalcaba, PI3K-related, Proteus, Beckwith–Wiedemann, fibrous dysplasia, Klippel–Trenaunay–Weber, and Maffucci. PMID:27617124

  12. Proteus Syndrome Foundation

    MedlinePlus

    ... Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Foundation The Proteus Syndrome Foundation , a 501c3 ... 1 Trial with ARQ 092 in Proteus Syndrome Proteus Syndrome Patient Registry The Proteus Syndrome Foundation Contact ...

  13. The path to visible extreme adaptive optics with MagAO-2K and MagAO-X

    NASA Astrophysics Data System (ADS)

    Males, Jared R.; Close, Laird M.; Guyon, Olivier; Morzinski, Katie M.; Hinz, Philip; Esposito, Simone; Pinna, Enrico; Xompero, Marco; Briguglio, Runa; Riccardi, Armando; Puglisi, Alfio; Mazin, Ben; Ireland, Michael J.; Weinberger, Alycia; Conrad, Al; Kenworthy, Matthew; Snik, Frans; Otten, Gilles; Jovanovic, Nemanja; Lozi, Julien

    2016-07-01

    The next generation of extremely large telescopes (ELTs) have the potential to image habitable rocky planets, if suitably optimized. This will require the development of fast high order "extreme" adaptive optics systems for the ELTs. Located near the excellent site of the future GMT, the Magellan AO system (MagAO) is an ideal on-sky testbed for high contrast imaging development. Here we discuss planned upgrades to MagAO. These include improvements in WFS sampling (enabling correction of more modes) and an increase in speed to 2000 Hz, as well as an H2RG detector upgrade for the Clio infrared camera. This NSF funded project, MagAO-2K, is planned to be on-sky in November 2016 and will significantly improve the performance of MagAO at short wavelengths. Finally, we describe MagAO-X, a visible-wavelength extreme-AO "afterburner" system under development. MagAO-X will deliver Strehl ratios of over 80% in the optical and is optimized for visible light coronagraphy.

  14. AO 0235+164 and Surrounding Field: Surprising HST Results

    NASA Technical Reports Server (NTRS)

    Burbidge, E. M.; Beaver, E. A.; Cohen, Ross D.; Junkkarinen, V. T.; Lyons, R. W.

    1996-01-01

    Results obtained with the Hubble Space Telescope on the highly variable radio, x-ray, and gamma-ray emitting QSO (or BL Lac object) AO 0235 + 164 are presented and analyzed. WFPC2 images were obtained in 1994 June, when AO 0235 + 164 was bright (m approx. 17), and the results are described in Sec. 3. After subtraction of the PSF of the QSO, hereafter called AO following the nomenclature of Yanny et al. (1989), the companion object named A, 2 sec south of AO, is discovered not to be an elliptical galaxy as hypothesized earlier, but to be an AGN object, with a central UV-bright point-source nucleus and faint surrounding nebulosity extending to AO. The second companion object 1.3 sec east of AO discovered by Yanny et al. (1989) and named object Al, appears more like a normal spiral galaxy. We have measured the positions, luminosities, and colors of some 30 faint objects in the field around AO 0235 + 16; most are extended and may be star-forming galaxies in a loose group or cluster. Our most surprising result of the HST observations comes from FOS spectra obtained in 1995 July, discussed in Sec. 4. Because of a positioning error of the telescope and AO's faintness at that time (m approx. 20), object A was observed instead of the intended target AO. Serendipitously, we discovered A to have broad deep BALQSO-type absorptions of C IV, Si IV, N V shortward of broad emissions. A is thus ejecting high velocity, highly ionized gas into the surrounding IGM. We discuss in Sec. 5 the relationship of the objects in the central 10 sec X 1O sec region around AO, where redshifts z(sub e) = 0.94, z(sub a) = 0.524, 0.851 in AO, (sub e) = 0.524 and Z(sub BAL)=0.511 in A, are found. We hypothesize that some of the 30 faint objects in the 77 sec. x 77 sec. field may be part of a large star-forming region at z approx. 0.5, as suggested for a few objects by Yanny et al. (1989). The proximity of two highly active extragalactic objects, AO 0235+164 and its AGN companion A, is remarkable and

  15. The Subaru Coronagraphic Extreme AO Project: Progress and Upgrades

    NASA Astrophysics Data System (ADS)

    Jovanovic, Nemanja; Martinache, F.; Guyon, O.; Clergeon, C.; Garrel, V.

    2013-01-01

    The Subaru Coronagraphic Extreme AO (SCExAO) instrument consists of a high performance Phase Induced Amplitude Apodisation (PIAA) coronagraph combined with an extreme Adaptive Optics (AO) system operating in the near-infrared (H band). The extreme AO system driven by the 2000 element deformable mirror will allow for Strehl ratios>90% to be achieved in the H-band when it goes closed loop. This makes the SCExAO instrument a powerful platform for high contrast imaging down to angular separations of the order of 1 λ/D. In this paper we report on the recent progress in regards to the development of the instrument, which includes the addition of a visible bench that makes use of the light at shorter wavelengths not currently utilized by SCExAO and closing the loop on the tip/tilt wavefront sensor. We will also discuss two exciting guest instruments which will expand the capabilities of SCExAO over the next few years; namely CHARIS which is a integral field spectrograph as well as VAMPIRES, a visible aperture masking experiment based on polarimetric analysis of circumstellar disks.

  16. Tourette Syndrome.

    ERIC Educational Resources Information Center

    Look, Kathy

    Tourette Syndrome has a history of being misdiagnosed or undiagnosed due to its unusual and complex symptoms. This paper describes: the symptoms of Tourette Syndrome; its etiology; age of onset; therapeutic methods, such as drug therapy, psychotherapy, diet control, and hypnosis; educational implications; and employment prospects. Several…

  17. Cardiorenal syndrome

    PubMed Central

    2009-01-01

    Kidney dysfunction in patients with heart failure and cardiovascular disorders in patients with chronic kidney disease are common. A recently proposed consensus definition of cardiorenal syndrome stresses the bidirectional nature of these heart-kidney interactions. The treatment of cardiorenal syndrome is challenging, however, promising new therapeutic options are currently being investigated in recent and ongoing clinical trials. PMID:20948701

  18. Down syndrome

    MedlinePlus

    ... Parents and caregivers should learn to help a person with Down syndrome deal with frustration. At the same time, it is important to encourage independence. Teen girls and women with Down syndrome are usually able to get pregnant. There is an increased risk of sexual abuse ...

  19. Turner Syndrome

    MedlinePlus

    ... opportunity to exchange ideas, develop coping strategies and locate resources. Peer groups for girls with Turner syndrome can help reinforce your daughter's self-esteem and provide her with a social network of people who understand her experience with Turner syndrome. References ...

  20. Turner syndrome

    MedlinePlus

    ... at birth is often smaller than average. A child with Turner syndrome is much shorter than children who are the ... Growth hormone may help a child with Turner syndrome grow taller. ... started when the girl is 12 or 13 years old. These help trigger ...

  1. Syndromic craniosynostosis.

    PubMed

    Derderian, Christopher; Seaward, James

    2012-05-01

    Although most cases of craniosynostosis are nonsyndromic, craniosynostosis is known to occur in conjunction with other anomalies in well-defined patterns that make up clinically recognized syndromes. Patients with syndromic craniosynostoses are much more complicated to care for, requiring a multidisciplinary approach to address all of their needs effectively. This review describes the most common craniosynostosis syndromes, their characteristic features and syndrome-specific functional issues, and new modalities utilized in their management. General principles including skull development, the risk of developing increased intracranial pressure in craniosynostosis syndromes, and techniques to measure intracranial pressure are discussed. Evolving techniques of the established operative management of craniosynostosis are discussed together with more recent techniques including spring cranioplasty and posterior cranial vault distraction osteogenesis.

  2. Linburg syndrome

    PubMed Central

    Rennie, William R.J.; Muller, Hellmuth

    1998-01-01

    Objective To review the causes and demographics of Linburg syndrome. Design An illustrative case report and a demographic study. Setting Adult and pediatric orthopedic clinics at the Health Sciences Centre in Winnipeg. Patients One patient with Linburg syndrome and 200 patients and relatives presenting to adult and pediatric orthopedic clinics with conditions not involving their hands, wrists or forearms. Outcome measures The presence of the intertendinous anomaly and of carpal tunnel syndrome. Results Tendinous connection(s) between flexor pollicis longus and flexor digitorum profundus muscles were found in 20% of the study population. The anomaly was found in all age groups. No association was found between Linburg syndrome and the presence of carpal tunnel syndrome or previous injury to the hand or forearm. Conclusion Tendinous connection between flexor pollicis longus and flexor digitorum profundus muscles is a common anomaly that rarely causes clinical symptoms. PMID:9711164

  3. SCExAO: First Results and On-Sky Performance

    NASA Astrophysics Data System (ADS)

    Currie, Thayne; Guyon, Olivier; Martinache, Frantz; Clergeon, Christophe; McElwain, Michael; Thalmann, Christian; Jovanovic, Nemanja; Singh, Garima; Kudo, Tomoyuki

    2014-01-01

    We present new on-sky results for the Subaru Coronagraphic Extreme Adaptive Optics imager (SCExAO) verifying and quantifying the contrast gain enabled by key components: the closed-loop coronagraphic low-order wavefront sensor (CLOWFS) and focal plane wavefront control (``speckle nulling''). SCExAO will soon be coupled with a high-order, Pyramid wavefront sensor which will yield > 90% Strehl ratio and enable 106-107 contrast at small angular separations allowing us to image gas giant planets at solar system scales. Upcoming instruments like VAMPIRES, FIRST, and CHARIS will expand SCExAO's science capabilities.

  4. SCExAO: First Results and On-Sky Performance

    NASA Technical Reports Server (NTRS)

    Currie, Thayne; Guyon, Olivier; Martinache, Frantz; Clergeon, Christophe; McElwain, Michael; Thalmann, Christian; Jovanovic, Nemanja; Singh, Garima; Kudo, Tomoyuki

    2013-01-01

    We present new on-sky results for the Subaru Coronagraphic Extreme Adaptive Optics imager (SCExAO) verifying and quantifying the contrast gain enabled by key components: the closed-loop coronagraphic low-order wavefront sensor (CLOWFS) and focal plane wavefront control ("speckle nulling"). SCExAO will soon be coupled with a high-order, Pyramid wavefront sensor which will yield greater than 90% Strehl ratio and enable 10(exp 6) -10(exp 7) contrast at small angular separations allowing us to image gas giant planets at solar system scales. Upcoming instruments like VAMPIRES, FIRST, and CHARIS will expand SCExAO's science capabilities.

  5. The Robo-AO automated intelligent queue system

    NASA Astrophysics Data System (ADS)

    Riddle, Reed L.; Hogstrom, Kristina; Papadopoulos, Athanasios; Baranec, Christoph; Law, Nicholas M.

    2014-07-01

    Robo-AO is the first automated laser adaptive optics instrument. In just its second year of scientific operations, it has completed the largest adaptive optics surveys to date, each comprising thousands of targets. Robo-AO uses a fully automated queue scheduling system that selects targets based on criteria entered on a per observing program or per target basis, and includes the ability to coordinate with US Strategic Command automatically to avoid lasing space assets. This enables Robo-AO to select among thousands of targets at a time, and achieve an average observation rate of approximately 20 targets per hour.

  6. Escobar syndrome mimicing congenital patellar syndrome.

    PubMed

    Ezirmik, Naci; Yildiz, Kadri; Can, Cahit Emre

    2012-08-01

    Multiple pterygium syndrome (MPS) is a syndrome that is characterized abnormal face, short length and skin pterygiums on some body legions (servical, antecubital, popliteal, interdigital and on neck). It is also called as Pterygium Colli syndrome, Escobar syndrome or Pterygium syndrome. Escobar (multyple pterygium) syndrome is a rare syndrome. Intrauterin growth reterdation, abnormal face, wide-spead pterygiums that resulted in joint contractures, ptosis, chryptoorchidism, patellar dysplasia and foot deformities are seen on this syndrome. Primarly autosomal resesive crossing are observed; also autosomal dominant and X-linked crossing. This case were presented as it has components of Escobar syndrome and Isolated Patellar Aplasia syndrome in same time.

  7. LGS-AO Imaging of Every Kepler Planet Candidate: the Robo-AO KOI Survey

    NASA Astrophysics Data System (ADS)

    Law, Nicholas Michael; Baranec, Christoph; Morton, Timothy; Ziegler, Carl; Atkinson, Dani; Riddle, Reed

    2015-08-01

    The Robo-AO Kepler Planetary Candidate Survey is observing every Kepler planet candidate host star with laser adaptive optics imaging, to search for blended nearby stars which may be physically associated companions and/or responsible for transit false positives. We will present the results from searching for companions around over 3,000 Kepler planet hosts in 2012-2015. We will describe our first data release covering 715 planet candidate hosts, and give a preview of ongoing results including improved statistics on the likelihood of false positive planet detections in the Kepler dataset, many new planets in multiple star systems, and new exotic multiple star systems containing Kepler planets.We will also describe the automated Robo-AO survey data reduction methods, including a method of using the large ensemble of target observations as mutual point-spread-function references, along with a new automated companion-detection algorithm designed for extremely large adaptive optics surveys.Our first data release covered 715 objects, searching for companions from 0.15” to 2.5” separation with contrast up to 6 magnitudes. We measured the overall nearby-star-probability for Kepler planet candidates to be 7.4+/-1.0%, and we will detail the variations in this number with stellar host parameters. We will also discuss several KOIs of particular interest, including KOI-191 and KOI-1151, which are both multi-planet systems with detected stellar companions whose unusual planetary system architecture might be best explained if they are ``coincident multiple'' systems, with several transiting planets shared between the two stars. Finally, we will discuss and update the 98%-confidence evidence from our survey that third bodies in star/planet systems produce an excess of close-in giant planets.

  8. Real-time processing for the ATST AO system

    NASA Astrophysics Data System (ADS)

    Richards, K.; Rimmele, T.

    The real-time processing requirements for the four meter Advanced Technology Solar Telescope extended source high order adaptive optics system will be approximately 15 times that of the Dunn Solar Telescope AO systems on which the ATST AO system is based. The ATST AO, with its approximately 1232 subapertures, will use massively parallel processing and is based on Analog Devices TigerSHARC DSPs as the central processing units. We will discuss the requirements for processing and data handling and the architecture of the correlating Shack-Hartmannn and reconstructor processing unit and present the results of bench-mark testing of the DSP hardware that was selected for the ATST AO system.

  9. [HELLP syndrome].

    PubMed

    Vigil-De Gracia, Paulino

    2015-01-01

    Hypertensive disorders of pregnancy are one of the most common complications of pregnancy, but one of the most serious expressions of this pathology is HELLP syndrome. The HELLP syndrome is characterized by the presence of hypertension disorder more a triad: microangiopathic hemolysis, elevated liver enzymes and low platelet count. Patient with HELLP syndrome is associated with increased maternal risk complications such as: cerebral hemorrhage, retinal detachment, hematoma/ hepatic rupture, acute renal failure, disseminated intravascular coagulation, placental abruption and therefore a maternal death. For all these reasons it is recommended to search for findings of HELLP syndrome in patients with hypertensive disorder of pregnancy. The main clinical confusion of HELLP syndrome is acute fatty liver of pregnancy, however there are parameters that help correct identification. The presence of HELLP syndrome involves a rapid termination of pregnancy and the administration of corticosteroids does not improve maternal morbidity and mortality but may help raise the platelet count, thus decreasing the need for transfusion and shorten hospital stay. Much of the decline in maternal morbidity and mortality associated with hypertensive disorders of pregnancy is in proper diagnosis and effective management of HELLP syndrome.

  10. Risk Factors Associated with Campylobacter jejuni Infections in Curaçao, Netherlands Antilles

    PubMed Central

    Endtz, Hubert P.; van West, Hanneke; Godschalk, Peggy C. R.; de Haan, Lidewij; Halabi, Yaskara; van den Braak, Nicole; Kesztyüs, Barbara I.; Leyde, Ewald; Ott, Alewijn; Verkooyen, Roel; Price, Lawrence J.; Woodward, David L.; Rodgers, Frank G.; Ang, C. Wim; van Koningsveld, Rinske; van Belkum, Alex; Gerstenbluth, Izzy

    2003-01-01

    A steady increase in the incidence of Guillain-Barré syndrome (GBS) with a seasonal preponderance, almost exclusively related to Campylobacter jejuni, and a rise in the incidence of laboratory-confirmed Campylobacter enteritis have been reported from Curaçao, Netherlands Antilles. We therefore investigated possible risk factors associated with diarrhea due to epidemic C. jejuni. Typing by pulsed-field gel electrophoresis identified four epidemic clones which accounted for almost 60% of the infections. One hundred six cases were included in a case-control study. Infections with epidemic clones were more frequently observed in specific districts in Willemstad, the capital of Curaçao. One of these clones caused infections during the rainy season only and was associated with the presence of a deep well around the house. Two out of three GBS-related C. jejuni isolates belonged to an epidemic clone. The observations presented point toward water as a possible source of Campylobacter infections. PMID:14662945

  11. Visible AO Observations at Halpha for Accreting Young Planets

    NASA Astrophysics Data System (ADS)

    Close, L. M.; Follette, K.; Males, J. R.; Morzinski, K.; Rodigas, T. J.; Hinz, P.; Wu, Y.-L.; Apai, D.; Najita, J.; Puglisi, A.; Esposito, S.; Riccardi, A.; Bailey, V.; Xompero, M.; Briguglio, R.; Weinberger, A.

    2014-01-01

    We utilized the new high-order (250-378 mode) Magellan Adaptive Optics system (MagAO) to obtain very high-resolution science in the visible with MagAO's VisAO CCD camera. In the good-median seeing conditions of Magellan (0.5-0.7'') we find MagAO delivers individual short exposure images as good as 19 mas optical resolution. Due to telescope vibrations, long exposure (60s) r' (0.63μm) images are slightly coarser at FWHM = 23-29 mas (Strehl ~ 28%) with bright (R < 9 mag) guide stars. These are the highest resolution filled-aperture images published to date. Images of the young (~ 1 Myr) Orion Trapezium θ1 Ori A, B, and C cluster members were obtained with VisAO. In particular, the 32 mas binary θ1 Ori C 1 C 2 was easily resolved in non-interferometric images for the first time. Relative positions of the bright trapezium binary stars were measured with ~ 0.6-5 mas accuracy. In the second commissioning run we were able to correct 378 modes and achieved good contrasts (Strehl>20% on young transition disks at Hα). We discuss the contrasts achieved at Hα and the possibility of detecting low mass (~ 1-5 Mjup) planets (past 5AU) with our new SAPPHIRES survey with MagAO at Hα.

  12. Neuroacanthocytosis syndromes.

    PubMed

    Jung, Hans H; Danek, Adrian; Walker, Ruth H

    2011-10-25

    Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington's disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes. Differential diagnoses

  13. Gerstmann's syndrome.

    PubMed

    Benton, A L

    1992-05-01

    Recent case reports describe the occurrence of a more or less pure Gerstmann syndrome in association with a focal lesion in the posterior perisylvian territory of the brain's left hemisphere. In addition, an electrocortical stimulation study reported the Gerstmann symptom combination and a number of other symptom combinations on stimulation of small areas in the left posterior parietotemporal cortex. The neuropsychological implications of these and other recent findings are considered in light of the variety of "syndromes" produced by lesions in this region, the rare occurrence of Gerstmann's syndrome, and its appearance as a consequence of lesions in diverse cerebral areas.

  14. Rapunzel syndrome

    PubMed Central

    Altonbary, Ahmed Youssef; Bahgat, Monir Hussein

    2015-01-01

    Bezoars are concretions of human or vegetable fibers that accumulate in the gastrointestinal tract. Trichobezoars are common in patients with underlying psychiatric disorders who chew and swallow their own hair. Rapunzel syndrome is a rare form of gastric trichobezoar with a long tail extending into the small bowel. This syndrome was first described in 1968 by Vaughan et al. and since then till date just 64 cases have been described in the literature. We present the only documented case with Rapunzel syndrome in Egypt. PMID:27847892

  15. [Autoinflammatory syndromes/fever syndromes].

    PubMed

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1β. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned.

  16. Down Syndrome

    MedlinePlus

    ... during the development of the egg, sperm or embryo. Translocation Down syndrome is the only form of ... risk of passing along certain genetic conditions. The embryo is tested for genetic abnormalities before it's implanted ...

  17. Behcet's Syndrome

    MedlinePlus

    Behcet's syndrome is a disease that involves vasculitis, which is inflammation of the blood vessels. It causes problems in many parts of the body. The ... National Institute of Arthritis and Musculoskeletal and Skin Diseases

  18. Hunter syndrome

    MedlinePlus

    Hunter syndrome is a disease in which long chains of sugar molecules (glycosaminoglycans, formerly called mucopolysaccharides ) are ... of the enzyme iduronate sulfatase. Without this enzyme, chains of sugar molecules build up in various body ...

  19. Horner Syndrome

    MedlinePlus

    ... birth Tumor of the hormonal and nervous systems (neuroblastoma) Unknown causes In some cases the cause of ... a tumor of the hormonal and nervous systems (neuroblastoma). There's no specific treatment for Horner syndrome. Often, ...

  20. Tourette Syndrome

    MedlinePlus

    ... a person is concentrating (like working on a computer) or relaxing (like listening to music). The type ... doctor who knows a lot about the nervous system). All kids who have Tourette syndrome have tics — ...

  1. Reye's Syndrome

    MedlinePlus

    ... symptoms such as confusion, seizures and loss of consciousness require emergency treatment. Early diagnosis and treatment of ... which can cause seizures, convulsions or loss of consciousness. The signs and symptoms of Reye's syndrome typically ...

  2. Tourette syndrome

    MedlinePlus

    ... medicines are available to treat Tourette syndrome. The exact medicine that is used depends on the symptoms ... must be authorized in writing by ADAM Health Solutions. About MedlinePlus Site Map FAQs Customer Support Get ...

  3. Cushing's Syndrome

    MedlinePlus

    ... occur in different parts of the body) can cause similar problems with cortisol balance. Common symptoms of Cushing's syndrome include upper body obesity, severe fatigue and muscle weakness, high blood pressure, ...

  4. HELLP syndrome

    MedlinePlus

    ... out of 1,000 pregnancies. In women with preeclampsia or eclampsia , the condition develops in 10 to ... have high blood pressure and are diagnosed with preeclampsia before they develop HELLP syndrome. In some cases, ...

  5. Down Syndrome

    MedlinePlus

    ... can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development

  6. Cushing's Syndrome

    MedlinePlus

    ... cause is long-term exposure to too much cortisol, a hormone that your adrenal gland makes. Sometimes, ... can cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper ...

  7. Aase syndrome

    MedlinePlus

    ... make ribosomal proteins) This condition is similar to Diamond-Blackfan anemia, and the 2 conditions should not ... chromosome 19 is found in some people with Diamond-Blackfan anemia. The anemia in Aase syndrome is ...

  8. Rett Syndrome

    MedlinePlus

    ... do before that she or he can no longer do? How severe are your child's signs and ... as children become older — it's usually necessary throughout life. Treating Rett syndrome requires a team approach. Treatments ...

  9. Caplan syndrome

    MedlinePlus

    ... people with rheumatoid arthritis who have breathed in mining dust that contains coal. This lung disease is ... Caplan syndrome is caused by breathing in coal mining dust. This causes inflammation and can lead to ...

  10. Marfan Syndrome

    MedlinePlus

    ... is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It ... and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, ...

  11. Marfan Syndrome

    MedlinePlus

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the ...

  12. Marfan syndrome

    MedlinePlus

    ... enable JavaScript. Marfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and ...

  13. Brown Syndrome

    MedlinePlus

    ... Does Brown syndrome cause eye problems besides abnormal eye movements? In the more severely affected cases of Brown ... acquired and congenital cases. In congenital cases, the eye movement problem is usually constant and unlikely to resolve ...

  14. Carcinoid syndrome

    MedlinePlus

    ... things such as blue cheese, chocolate, or red wine. Exams and Tests Most of these tumors are ... outlook is more favorable thanks to new treatment methods. Possible Complications Complications of carcinoid syndrome may include: ...

  15. Piriformis syndrome

    MedlinePlus

    ... the sciatic nerve. The syndrome, which affects more women than men, is uncommon. But when it occurs, it can cause sciatica . Causes The piriformis muscle is involved in nearly every movement you make with your lower body, from walking ...

  16. Marfan Syndrome

    MedlinePlus

    ... will probably do some painless exams — like taking measurements of the body, including an arm span. You ... doors" inside the heart that help direct the flow of blood). In someone with Marfan syndrome, those ...

  17. Metabolic syndrome

    MedlinePlus

    ... obesity ). This body type may be described as "apple-shaped." Insulin resistance. Insulin is a hormone produced ... Syndrome Browse the Encyclopedia A.D.A.M., Inc. is accredited by URAC, also known as the ...

  18. Duane Syndrome

    MedlinePlus

    ... the eye muscles. In Duane syndrome, the sixth cranial nerve that controls the lateral rectus muscle (the muscle ... abnormal innervation of a branch from the third cranial nerve, which normally controls the medial rectus muscle (the ...

  19. Menkes syndrome

    MedlinePlus

    ... Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. It ... makes it hard for the body to distribute copper in food from the intestines into the bloodstream ...

  20. Marfan syndrome

    PubMed Central

    Jain, Eesha; Pandey, Ramesh Kumar

    2013-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ systems. Patients of Marfan syndrome portray very typical physical and orofacial characteristics, suggesting obvious recognition, but due to variable phenotypic expression, cases often go unnoticed unless a full range of attributing features is apparent. Dental practitioners are very likely to encounter patients of Marfan syndrome at an early age as they frequently present for dental treatment. The present case report illustrates the preliminary screening of Marfan syndrome in a dental office followed by timely diagnosis and appropriate referrals. PMID:24336584

  1. Klinefelter syndrome

    MedlinePlus

    Testosterone therapy may be prescribed. This can help: Grow body hair Improve appearance of muscles Improve concentration Improve mood and self esteem Increase energy and sex drive Increase strength Most men with this syndrome are not able to get ...

  2. Sjogren's Syndrome

    MedlinePlus

    ... to developing cavities if your mouth is dry. Yeast infections. People with Sjogren's syndrome are much more likely to develop oral thrush, a yeast infection in the mouth. Vision problems. Dry eyes ...

  3. Beals Syndrome

    MedlinePlus

    ... have many of the skeletal (bone) and aortic enlargement problems as people with Marfan syndrome, and treatments ... appearance to the top of the ear Aortic enlargement and/or mitral valve regurgitation (occasionally) People with ...

  4. Autoinflammatory syndromes.

    PubMed

    Galeazzi, M; Gasbarrini, G; Ghirardello, A; Grandemange, S; Hoffman, H M; Manna, R; Podswiadek, M; Punzi, L; Sebastiani, G D; Touitou, I; Doria, A

    2006-01-01

    The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen specific T cells. These disorders are caused by primary dysfunction of the innate immune system, without evidence of adaptive immune dysregulation. Innate immune abnormalities include aberrant responses to pathogen associated molecular patterns (PAMPs) like lipopolysaccharide and peptidoglycan, prominent neutrophilia in blood and tissues, and dysregulation of inflammatory cytokines (IL-1beta, TNF-alpha) or their receptors. The autoinflammatory diseases comprise both hereditary (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial (Crohn's and Behçet's diseases) disorders. Mutations responsible for FMF, TRAPS, CAPS, PAPA are in proteins involved in modulation of inflammation and apoptosis.

  5. [Mobius syndrome].

    PubMed

    Vladuţiu, Cristina; Duma, Ionela

    2012-01-01

    Mobius syndrom, an anomaly in cranial nerve developement, presents with a remarkable clinical polymorphism. The rare occurence of this pathology and the questions raised by the diagnosis and treatment determined us to make this presentation.

  6. Turner Syndrome

    MedlinePlus

    ... turnersyndrome. html • Eunice Kennedy Shriver National Institutes of Child Health & Human Development (NIH): www. nichd. nih. gov/ health/ topics/ Turner_ Syndrome. cfm • Mayo Clinic: www. mayoclinic. com/ health/ turner- ...

  7. Cushing syndrome

    MedlinePlus

    ... with Cushing syndrome have: Round, red, full face ( moon face ) Slow growth rate (in children) Weight gain ... constitute endorsements of those other sites. Copyright 1997-2017, A.D.A.M., Inc. Duplication for commercial ...

  8. [HELLP syndrome].

    PubMed

    Filipowicz, Ewa; Staszków, Monika

    2015-01-01

    HELLP syndrome (hemolysis, elevated liver enzymes, low platelet count) is a relatively rare complication of pregnancy. It usually develops in the IIId trimester or after delivery. HELLP syndrome is associated with increased maternal (placental abruption, disseminated intravascular coagulation, hepatic hematomas and rupture, and acute kidney injury) and neonatal (prematurity, low birth weight) risk complications. In this article the diagnosis, clinical picture and treatment of this disease have been shortly reviewed.

  9. SAPHO syndrome.

    PubMed

    Carneiro, Sueli; Sampaio-Barros, Percival D

    2013-05-01

    SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult. Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome. The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors. Treatment is based on information gathered from case reports and small series, and is related to specific skin or articular symptoms.

  10. Noonan syndrome.

    PubMed

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2013-01-26

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype-phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments.

  11. Cardiac Syndrome X

    MedlinePlus

    ... Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Peripheral Vascular Disease Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  12. Russell-Silver syndrome

    MedlinePlus

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... Organization for Rare Disorders -- rarediseases.org/rare-diseases/russell-silver-syndrome NIH/NLM Genetics Home Reference -- ghr. ...

  13. Wernicke-Korsakoff Syndrome

    MedlinePlus

    ... syndrome) is a memory disorder that results from vitamin B1 deficiency and is associated with alcoholism. Korsakoff's syndrome damages ... syndrome) is a memory disorder that results from vitamin B1 deficiency and is associated with alcoholism. Korsakoff's syndrome damages ...

  14. What is Metabolic Syndrome?

    MedlinePlus

    ... from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of ... that may play a role in causing metabolic syndrome. Outlook Metabolic syndrome is becoming more common due to a ...

  15. Beyond the Blur: Construction and Characterization of the First Autonomous AO System, and, An AO Survey of Magnetar Proper Motions

    NASA Astrophysics Data System (ADS)

    Tendulkar, Shriharsh Prakash

    Adaptive optics (AO) corrects distortions created by atmospheric turbulence and delivers diffraction-limited images on ground-based telescopes. The vastly improved spatial resolution and sensitivity has been utilized for studying everything from the magnetic fields of sunspots upto the internal dynamics of high-redshift galaxies. This thesis about AO science from small and large telescopes is divided into two parts: Robo-AO and magnetar kinematics. In the first part, I discuss the construction and performance of the world's first fully autonomous visible light AO system, Robo-AO, at the Palomar 60-inch telescope. Robo-AO operates extremely efficiently with an overhead < 50s, typically observing about 22 targets every hour. We have performed large AO programs observing a total of over 7,500 targets since May 2012. In the visible band, the images have a Strehl ratio of about 10% and achieve a contrast of upto 6 magnitudes at a separation of 1‧‧. The full-width at half maximum achieved is 110-130 milli-arcsecond. I describe how Robo-AO is used to constrain the evolutionary models of low-mass pre-main-sequence stars by measuring resolved spectral energy distributions of stellar multiples in the visible band, more than doubling the current sample. I conclude this part with a discussion of possible future improvements to the Robo-AO system. In the second part, I describe a study of magnetar kinematics using high-resolution near-infrared (NIR) AO imaging from the 10-meter Keck II telescope. Measuring the proper motions of five magnetars with a precision of upto 0.7 milli-arcsecond/yr -1, we have more than tripled the previously known sample of magnetar proper motions and proved that magnetar kinematics are equivalent to those of radio pulsars. We conclusively showed that SGR 1900+14 and SGR 1806-20 were ejected from the stellar clusters with which they were traditionally associated. The inferred kinematic ages of these two magnetars are 6 +/- 1.8 kyr and 650 +/-3 00

  16. Characterizing and mitigating vibrations for SCExAO

    NASA Astrophysics Data System (ADS)

    Lozi, Julien; Guyon, Olivier; Jovanovic, Nemanja; Singh, Garima; Goebel, Sean; Norris, Barnaby; Okita, Hirofumi

    2016-07-01

    The Subaru Coronagraphic Extreme Adaptive Optics (SCExAO) instrument, under development for the Subaru Telescope, has currently the fastest on-sky wavefront control loop, with a pyramid wavefront sensor running at 3.5 kHz. But even at that speed, we are still limited by low-frequency vibrations. The current main limitation was found to be vibrations attributed mainly to the rotation of the telescope. Using the fast wavefront sensors, cameras and accelerometers, we managed to identify the origin of most of the vibrations degrading our performance. Low-frequency vibrations are coming from the telescope drive in azimuth and elevation, as well as the elevation encoders when the target is at transit. Other vibrations were found at higher frequency coming from the image rotator inside Subaru's adaptive optics facility AO188. Different approaches are being implemented to take care of these issues. The PID control of the image rotator has been tuned to reduce their high-frequency contribution. We are working with the telescope team to tune the motor drives and reduce the impact of the elevation encoder. A Linear Quadratic Gaussian controller (LQG, or Kalman filter) is also being implemented inside SCExAO to control these vibrations. These solutions will not only improve significantly SCExAOs performance, but will also help all the other instruments on the Subaru Telescope, especially the ones behind AO188. Ultimately, this study will also help the development of the TMT, as these two telescopes share very similar drives.

  17. Can Myelodysplastic Syndromes Be Prevented?

    MedlinePlus

    ... Myelodysplastic Syndromes Causes, Risk Factors, and Prevention Can Myelodysplastic Syndromes Be Prevented? Since smoking is linked to the ... Syndromes? Can Myelodysplastic Syndromes Be Prevented? More In Myelodysplastic Syndromes About Myelodysplastic Syndromes Causes, Risk Factors, and Prevention ...

  18. Nevoid basal cell carcinoma syndrome

    MedlinePlus

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic condition. The gene linked to the syndrome is known as PTCH (" ...

  19. Second generation Robo-AO instruments and systems

    NASA Astrophysics Data System (ADS)

    Baranec, Christoph; Riddle, Reed; Law, Nicholas M.; Chun, Mark R.; Lu, Jessica R.; Connelley, Michael S.; Hall, Donald; Atkinson, Dani; Jacobson, Shane

    2014-07-01

    The prototype Robo-AO system at the Palomar Observatory 1.5-m telescope is the world's first fully automated laser adaptive optics instrument. Scientific operations commenced in June 2012 and more than 12,000 observations have since been performed at the ~0.12" visible-light diffraction limit. Two new infrared cameras providing high-speed tip-tilt sensing and a 2' field-of-view will be integrated in 2014. In addition to a Robo-AO clone for the 2-m IGO and the natural guide star variant KAPAO at the 1-m Table Mountain telescope, a second generation of facility-class Robo-AO systems are in development for the 2.2-m University of Hawai'i and 3-m IRTF telescopes which will provide higher Strehl ratios, sharper imaging, ~0.07", and correction to λ = 400 nm.

  20. Pfeiffer syndrome.

    PubMed

    Vogels, Annick; Fryns, Jean-Pierre

    2006-06-01

    Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  1. Preexcitation Syndromes.

    PubMed

    Bhatia, Atul; Sra, Jasbir; Akhtar, Masood

    2016-03-01

    The classic electrocardiogram in Wolff-Parkinson-White (WPW) syndrome is characterized by a short PR interval and prolonged QRS duration in the presence of sinus rhythm with initial slurring. The clinical syndrome associated with above electrocardiogram finding and the history of paroxysmal supraventricular tachycardia is referred to as Wolff-Parkinson-White syndrome. Various eponyms describing accessory or anomalous conduction pathways in addition to the normal pathway are collectively referred to as preexcitation syndromes. The latter form and associated eponyms are frequently used in literature despite controversy and disagreements over their actual anatomical existence and electrophysiological significance. This communication highlights inherent deficiencies in the knowledge that has existed since the use of such eponyms began. With the advent of curative ablation, initially surgical, and then catheter based, the knowledge gaps have been mostly filled with better delineation of the anatomic and electrophysiological properties of anomalous atrioventricular pathways. It seems reasonable, therefore, to revisit the clinical and electrophysiologic role of preexcitation syndromes in current practice.

  2. Sheehan's syndrome.

    PubMed

    Keleştimur, Fahrettin

    2003-01-01

    Sheehan's syndrome occurs as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. It may be rarely seen without massive bleeding or after normal delivery. Improvement in obstetric care and availability of rapid blood transfusion coincided with a remarkable reduction in the frequency of Sheehan's syndrome particularly in western society. But it has recently been reported more often from well-developed countries. It is one of the most common causes of hypopituitarism in underdeveloped or developing countries. Enlargement of pituitary gland, small sella size, disseminated intravascular coagulation and autoimmunity have been suggested to play a role in the pathogenesis of Sheehan's syndrome in women who suffer from severe postpartum hemorrhage. The patients may seek medical advice because of various presentations ranging from non-specific symptoms to coma and the clinical manifestation may change from one patient to another. Failure of postpartum lactation and failure to resume menses after delivery are the most common presenting symptoms. Although a small percentage of patients with Sheehan's syndrome may cause abrupt onset severe hypopituitarism immediately after delivery, most patients have a mild disease and go undiagnosed and untreated for a long time. It may result in partial or panhypopituitarism and GH is one of the hormones lost earliest. The great majority of the patients has empty sella on CT or MRI. Lymphocytic hypophysitis should be kept in mind in differential diagnosis. In this review, the old and recent data regarding Sheehan's syndrome are presented.

  3. Initial Performance of the Keck AO Wavefront Controller System

    SciTech Connect

    Johansson, E M; Acton, D S; An, J R; Avicola, K; Beeman, B V; Brase, J M; Carrano, C J; Gathright, J; Gavel, D T; Hurd, R L; Lai, O; Lupton, W; Macintosh, B A; Max, C E; Olivier, S S; Shelton, J C; Stomski, P J; Tsubota, K; Waltjen, K E; Watson, J A; Wizinowich, P L

    2001-03-01

    The wavefront controller for the Keck Observatory AO system consists of two separate real-time control loops: a tip-tilt control loop to remove tilt from the incoming wavefront, and a deformable mirror control loop to remove higher-order aberrations. In this paper, we describe these control loops and analyze their performance using diagnostic data acquired during the integration and testing of the AO system on the telescope. Disturbance rejection curves for the controllers are calculated from the experimental data and compared to theory. The residual wavefront errors due to control loop bandwidth are also calculated from the data, and possible improvements to the controller performance are discussed.

  4. High-Performance CCSDS AOS Protocol Implementation in FPGA

    NASA Technical Reports Server (NTRS)

    Clare, Loren P.; Torgerson, Jordan L.; Pang, Jackson

    2010-01-01

    The Consultative Committee for Space Data Systems (CCSDS) Advanced Orbiting Systems (AOS) space data link protocol provides a framing layer between channel coding such as LDPC (low-density parity-check) and higher-layer link multiplexing protocols such as CCSDS Encapsulation Service, which is described in the following article. Recent advancement in RF modem technology has allowed multi-megabit transmission over space links. With this increase in data rate, the CCSDS AOS protocol implementation needs to be optimized to both reduce energy consumption and operate at a high rate.

  5. Initial performance of the Keck AO wavefront controller system

    NASA Astrophysics Data System (ADS)

    Johansson, Erik M.; Acton, D. Scott; An, Jong R.; Avicola, Kenneth; Beeman, Bart V.; Brase, James M.; Carrano, Carmen J.; Gathright, John; Gavel, Donald T.; Hurd, Randall L.; Lai, Olivier; Lupton, William; Macintosh, Bruce A.; Max, Claire E.; Olivier, Scot S.; Shelton, J. Christopher; Stomski, Paul J.; Tsubota, Kevin; Waltjen, Kenneth E.; Watson, James A.; Wizinowich, Peter L.

    2000-07-01

    The wavefront controller for the Keck Observatory AO system consists of two separate real-time control loops: a tip-tilt control loop to remove tilt from the incoming wavefront, and a deformable mirror control loop to remove higher-order aberrations. In this paper, we describe these control loops and analyze their performance using diagnostic data acquired during the integration and testing of the AO system on the telescope. Disturbance rejection curves for the controllers are calculated from the experimental data and compared to theory. The residual wavefront errors due to control loop bandwidth are also calculated from the data, and possible improvements to the controller performance are discussed.

  6. Apert's Syndrome

    PubMed Central

    Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

    2014-01-01

    ABSTRACT Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma­tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite and several retained primary teeth. We report one such case of 14-year-old boy having all the classical features of Apert's syndrome with particular emphasis on brief review of genetic features. How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KRS. Apert's Syndrome. Int J Clin Pediatr Dent 2014;7(1):69-72. PMID:25206244

  7. Compartment syndromes

    NASA Technical Reports Server (NTRS)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  8. Flammer syndrome

    PubMed Central

    2014-01-01

    The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment. PMID:25075228

  9. [Wilkie's syndrome].

    PubMed

    Bognár, Gábor; Ledniczky, György; Palik, Eva; Zubek, László; Sugár, István; Ondrejka, Pál

    2008-10-01

    Loss of retroperitoneal fatty tissue as a result of a variety of debilitating conditions and noxa is believed to be the etiologic factor of superior mesenteric artery syndrome. A case of a 35 years old female patient with severe malnutrition and weight loss is presented, who developed superior mesenteric artery syndrome. Various theories of etiology, clinical course and treatment options of this uncommon disease are discussed. In our case, conservative management was inefficient, while surgical treatment aiming to bypass the obstruction by an anastomosis between the jejunum and the proximal duodenum (duodenojejunostomy) was successful. An interdisciplinary teamwork provides the most beneficial diagnostic and therapeutic result in this often underestimated disease.

  10. Morbihan syndrome

    PubMed Central

    Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia

    2013-01-01

    We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks). PMID:23741671

  11. [PFAPA syndrome].

    PubMed

    André, Suzete Costa Anjos; Vales, Fernando; Cardoso, Eduardo; Santos, Margarida

    2009-01-01

    PFAPA syndrome is characterized by periodic fever, pharyngitis, cervical adenitis and aphthous stomatitis. The bouts of fever can last for days or even weeks. Between crises, patients remain asymptomatic for variable periods. It appears before the age of five and has limited duration (4-8 years). Its aetiopathogeny is unknown. Corticoids are the treatment of choice. Tonsillectomy has been proposed as a solution but remains controversial. We present the case of a 4-year-old girl with PFAPA syndrome who underwent tonsillectomy in January, 2008, and we review the literature.

  12. A Prediction of the Damping Properties of Hindered Phenol AO-60/polyacrylate Rubber (AO-60/ACM) Composites through Molecular Dynamics Simulation

    NASA Astrophysics Data System (ADS)

    Yang, Da-Wei; Zhao, Xiu-Ying; Zhang, Geng; Li, Qiang-Guo; Wu, Si-Zhu

    2016-05-01

    Molecule dynamics (MD) simulation, a molecular-level method, was applied to predict the damping properties of AO-60/polyacrylate rubber (AO-60/ACM) composites before experimental measures were performed. MD simulation results revealed that two types of hydrogen bond, namely, type A (AO-60) -OH•••O=C- (ACM), type B (AO-60) - OH•••O=C- (AO-60) were formed. Then, the AO-60/ACM composites were fabricated and tested to verify the accuracy of the MD simulation through dynamic mechanical thermal analysis (DMTA). DMTA results showed that the introduction of AO-60 could remarkably improve the damping properties of the composites, including the increase of glass transition temperature (Tg) alongside with the loss factor (tan δ), also indicating the AO-60/ACM(98/100) had the best damping performance amongst the composites which verified by the experimental.

  13. Course Material Model in A&O Learning Environment.

    ERIC Educational Resources Information Center

    Levasma, Jarkko; Nykanen, Ossi

    One of the problematic issues in the content development for learning environments is the process of importing various types of course material into the environment. This paper describes a method for importing material into the A&O open learning environment by introducing a material model for metadata recognized by the environment. The first…

  14. HELLP Syndrome.

    PubMed

    Sandvoß, Mareike; Potthast, Arne Björn; von Versen-Höynck, Frauke; Das, Anibh Martin

    2017-04-01

    The hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome is frequently observed in mothers whose offspring have long-chain fatty acid oxidation defects. We previously found that fatty acid oxidation is compromised not only in these inborn errors of metabolism but also in human umbilical vein endothelial cells (HUVECs) from all pregnancies complicated by the HELLP syndrome. Sirtuins are oxidized nicotinamide adenine dinucleotide (NAD(+))dependent deacetylases linked to the metabolic status of the cell. SIRT 4 is known to have regulatory functions in fatty acid oxidation. The HELLP syndrome is often associated with short-term hypoxia. We studied sirtuins (SIRT 1, SIRT 3, and SIRT 4) in HUVECs from pregnancies complicated by the HELLP syndrome and uncomplicated pregnancies exposed to hypoxia (n = 7 controls, 7 HELLP; 0, 10, 60, or 120 minutes of 2% O2). Protein levels of SIRT 4 were significantly higher in HUVECs from HELLP compared to control after 60 and 120 minutes of hypoxia. The NAD(+) levels increased in a time-dependent manner.

  15. [SAPHO syndrome].

    PubMed

    Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J

    2014-10-01

    The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary.

  16. Waardenburg syndrome.

    PubMed Central

    Read, A P; Newton, V E

    1997-01-01

    Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homozygotes. Type IV WS (Shah-Waardenburg syndrome with Hirschsprung disease) can be caused by mutations in the genes for endothelin-3 or one of its receptors, EDNRB. Type II WS is a heterogeneous group, about 15% of whom are heterozygous for mutations in the MITF (microphthalmia associated transcription factor) gene. All these forms show marked variability even within families, and at present it is not possible to predict the severity, even when a mutation is detected. Characterising the genes is helping to unravel important developmental pathways in the neural crest and its derivatives. Images PMID:9279758

  17. Cushing's Syndrome

    MedlinePlus

    ... sometimes found in people who have depression or anxiety disorders, drink excess alcohol, have poorly controlled diabetes, or are severely obese. Pseudo-Cushing’s does not have the same long-term effects on health as Cushing's syndrome and does not ...

  18. Aicardi syndrome

    MedlinePlus

    ... 20th ed. Philadelphia, PA: Elsevier; 2016:chap 591. US National Library of Medicine. Aicardi syndrome. Updated September 20, 2016. ghr.nlm. ... Support Get email updates Subscribe to RSS Follow us ... Developers U.S. National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department ...

  19. Dumping Syndrome

    MedlinePlus

    ... stomach move to your small intestine in an uncontrolled, abnormally fast manner. This is most often related to changes in your stomach associated with surgery. Dumping syndrome can occur after any stomach operation or removal of the esophagus (esophagectomy). Gastric bypass surgery for ...

  20. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  1. Nephrotic Syndrome

    MedlinePlus

    ... child will have a relapse — where the nephrotic syndrome comes back after going away. In that case, treatment would begin again until the child outgrows the condition or it improves on its own./p> Reviewed by: Robert S. Mathias, MD Date reviewed: March 2014 previous 1 • ...

  2. Metabolic Syndrome

    MedlinePlus

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions are High blood pressure High blood glucose, or blood sugar, levels High levels of triglycerides, a type of fat, in your blood Low levels ...

  3. Waardenburg's syndrome.

    PubMed

    Yesudian, D P; Jayaraman, M; Janaki, V R; Yesudian, P

    1995-01-01

    Three children in a family of five presented with heterochromia iridis, lateral displacement of inner canthi and varying degrees of sensorineural deafness. All the 3 showed iris atrophy. The father of the children had only heterochromia iridis. A diagnosis of Waardenburg's syndrome Type I was made in the children with the father probably representing a forme fruste of the condition.

  4. [Waardenburg's syndrome].

    PubMed

    Gimñenez, F; Carbonell, R; Pérez, F; Lozano, I

    1994-01-01

    Reporting one case of this condition type-2 with heterochromia iridis and cochlear deafness. The AA. review the syndrome's components and it nomenclature as well. They discuss about the convenience of including this deviation in the chapter of "diseases of the embryonic neural crest". The specific place of the gene responsibly in the chromosome-2 and the possibilities of genetic counselling are considered.

  5. [Locomotive syndrome and metabolic syndrome].

    PubMed

    Fukushi, Jun-ichi; Iwamoto, Yukihide

    2014-10-01

    The Japanese Orthopedic Association coined the term locomotive syndrome (LS) to designate a condition of elderly people in high risk groups of requiring nursing care because of problems with their musculoskeletal diseases. LS is a socioeconomic concept, and closely associated with osteoporosis, osteoarthritis, and sarcopenia. Recent studies have revealed that metabolic syndrome (MS), a clustering of cardiovascular risk factors, has been related with LS. For example, individuals with MS have a greater risk of osteoarthritis and sarcopenia. Secreted factors from adipose tissue and skeletal muscles, namely, adipokines and myokines, are involved in the association of LS and MS.

  6. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  7. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  8. [Fryns syndrome].

    PubMed

    Heljić, Suada; Terzić, Sabina; Dzinović, Amra; Mackić, Mirela

    2006-01-01

    Fryns syndrome is an extremely rare developmental disorder associated with deletion of long arm of chromosome 16. Characteristics of the Fyns syndrome are: craniofacial dysmorfism, diaphragmatic defects with lung hypoplasia, distal digital hypoplasia, brain and urogenital abnormalities and other developmental disturbances. After the first description in two stillborn sisters by Fryns (1971), new reports appeared with descriptions included disorders which have not described previously. We described a case of female live born with deletion of long arm of chromosome 16. Our patient had a typical craniofacial dysmorfism, brain abnormalities (Dandy Walker malformation), cardiac defects (artial septal defect and persistent ductus arteriosus), renal hypoplasia, gastrointestinal problems, hypotonia and feeding difficulties. Our patient had no diaphragmatic hernia and he survived neonatal period with severe neurological impairment.

  9. Parinaud's syndrome.

    PubMed

    Moffie, D; Ongerboer de Visser, B W; Stefanko, S Z

    1983-02-01

    Five cases of a tumour in the quadrigeminal area have been described, 4 of which could be verified by autopsy. In 2 cases with a metastasis in the tegmentum of the mesencephalon, a Parinaud syndrome was present. In 2 other cases, however, with extensive destruction of the quadrigeminal plate and of the posterior commissure this syndrome was not present. In the 5th case, with a big vascular tumour of the pineal area, disturbances of eye movements and pupils were also lacking. From these observations we may conclude that (1) destruction of the quadrigeminal plate has no influence upon vertical eye movements. (2) destruction of the posterior commissure, in combination with the quadrigeminal plate, is not always followed by disturbances of vertical eye movements. In man it is still not clear which structures are responsible for the performance of vertical eye movements.

  10. [Kartagener syndrome].

    PubMed

    Naves, Kattia Cristina; Santos, João Paulo Vieira dos; Santana, José Henrique; Lopes, Gesner Pereira

    2005-01-01

    A white, 48-year-old woman, natural from Uberaba-MG, presented herself to hospital. She had a picture of rest dyspnea, fever, productive cough, greenish catarrh and ventilatory-dependent thoracic pain, for 3 days. During investigation, through radiogram and thoracic tomography, it was visualized the presence of dextrocardia and consolidation in low right lobe by bronchopneumonic process. It was opted for hospitalization and antibiotic therapy. Investigation was carried on with tomography of mastoids and paranasal cavities which showed bilateral chronic otomastoiditis and images of chronic sinusopathy allowing the diagnosis of a case of Kartagener Syndrome. Our purpose in this case report is to include new informations for who search about this syndrome.

  11. Kartagener syndrome.

    PubMed

    Skeik, Nedaa; Jabr, Fadi I

    2011-01-12

    Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tests to prove impaired cilia function, biopsy, and genetic studies. Treatment is supportive. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. We present a case of a 66-year-old woman with chronic recurrent upper respiratory infections, pseudomonal pneumonia, and chronic bronchiectasis who presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on her clinical presentation and genetic studies. She expired on ventilator with refractory respiratory and multiorgan failure.

  12. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  13. [Fibromyalgia syndrome].

    PubMed

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  14. Gerstmann's syndrome.

    PubMed

    Sukumar, S; Ferguson, G C

    1996-05-01

    Although Gerstmann's syndrome has been well documented since it was characterised in the latter half of last century, there has not been much literature on it in the last few years. We present a classical case in a patient who was admitted into hospital for an unrelated problem. We conclude that clinical examination still has a valuable role in neurology, despite the availability of excellent imaging techniques.

  15. Fetal Alcohol Syndrome

    MedlinePlus

    ... Conditions Frequently Asked Questions Español Condiciones Chinese Conditions Fetal Alcohol Syndrome Read in Chinese What is Fetal Alcohol Syndrome (FAS)? Fetal Alcohol Syndrome (FAS) describes changes in ...

  16. What is Down Syndrome?

    MedlinePlus

    ... NICHD Research Information Clinical Trials Resources and Publications Down Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Down syndrome? Down syndrome describes a set of cognitive and ...

  17. Down Syndrome: Eye Problems

    MedlinePlus

    ... life expectancy. Do children with Down syndrome have eye problems? Individuals with Down syndrome are at increased ... When should children with Down syndrome receive an eye exam? The American Academy of Pediatrics recommends that ...

  18. Reye syndrome - resources

    MedlinePlus

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. -- www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke -- www. ...

  19. Real-time control system verification for ELT AO systems

    NASA Astrophysics Data System (ADS)

    Basden, Alastair; Myers, Richard; Morris, Tim; Bharmal, Nazim; Bitenc, Urban; Dipper, Nigel; Reeves, Andrew; Gendron, Eric; Rousset, Gérard; Hubert, Zoltan; Vidal, Fabrice; Matin, Olivier; Gratadour, Damien; Chemla, Fanny

    2013-12-01

    ELT AO systems have demanding computational requirements for real-timecontrol. These systems are required to be fully tested and robustbefore commissioning so that valuable on-sky time is not wasted. Inthis talk I will report recent work at Durham on our ELT AO real-timecontrol system, algorithms that we use to improve robustness, anddevelopment of an end-to-end testing environment that will allow fulltesting of real-time control systems, including both Monte-Carlosimulation and hardware approaches. The talk will include experiencegained with CANARY, how the robustness of this system has beenimproved, and our experience operating with four laser guide stars. Workcarried out in this area on the DRAGON test-bench will also bedescribed.

  20. Acrodysostosis syndromes

    PubMed Central

    Silve, C; Le-Stunff, C; Motte, E; Gunes, Y; Linglart, A; Clauser, E

    2012-01-01

    Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsα, as observed in PHP1a. The recent identification in patients affected with acrodysostosis of defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR–Gsα–cAMP–PKA signaling, has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: ADOHR, due to PRKAR1A defects, and ADOP4 (our denomination), due to PDE4D defects. The existence of GPCR-hormone resistance is typical of the ADOHR syndrome. We review here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway. PMID:24363928

  1. Acrodysostosis syndromes.

    PubMed

    Silve, C; Le-Stunff, C; Motte, E; Gunes, Y; Linglart, A; Clauser, E

    2012-11-21

    Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsα, as observed in PHP1a. The recent identification in patients affected with acrodysostosis of defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR-Gsα-cAMP-PKA signaling, has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: ADOHR, due to PRKAR1A defects, and ADOP4 (our denomination), due to PDE4D defects. The existence of GPCR-hormone resistance is typical of the ADOHR syndrome. We review here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway.

  2. Gitelman syndrome.

    PubMed

    Cotovio, Patricia; Silva, Cristina; Oliveira, Nuno; Costa, Fátima

    2013-04-11

    Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent hypokalaemia. Clinical history was positive for symptoms of orthostatic hypotension and polyuria. There was no history of drugs consumption other than potassium supplements. Complementary evaluation revealed hypokalaemia (2.15 mmol/l), hypomagnesaemia (0.29 mmol/l), metabolic alkalosis (pH 7.535, bicarbonate 34.1 mmol/l), hypereninaemia (281.7 U/ml), increased chloride (160 mmol/l) and sodium (126 mmol/l) urinary excretion and reduced urinary calcium excretion (0.73 mmol/l). Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of Gitelman syndrome was established. We reinforced oral supplementation with potassium chloride and magnesium sulfate. Serum potassium stabilised around 3 mmol/l. The aim of our article is to remind Gitelman syndrome in the differential diagnosis of persistent hypokalaemia.

  3. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1986-10-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms or syndromes which can mimic other disease conditions encountered in veterinary medicine. Various types of PNS, singly or in multiples, may be associated with either benign or malignant tumors and may involve almost every organ system, directly or indirectly. These disorders can precede the discovery of the tumor by weeks, months, or even years, and many are good diagnostic and prognostic indicators. The true incidence of PNS in animal cancer patients is unknown, although approximately 75% of all human cancer patients, at some time during the tumor-bearing part of their lives, suffer from one or more of these disorders. Recognition of PNS is valuable because the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor, because they may allow assessment of premalignant states, because they may aid in the search for metastases, because they may help quantify and monitor response to therapy, and because they may provide insight into the study of malignant transformations and oncogene expression. Recognition of these syndromes is relevant to the diagnosis and treatment of many problems in veterinary cancer medicine. 22 refs., 2 tabs.

  4. Hepatorenal syndrome

    PubMed Central

    Lata, Jan

    2012-01-01

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension. This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys, where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration, which ultimately results in uraemia. The syndrome occurs almost exclusively in patients with ascites. Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output. Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure, but refractory ascites, and its impact on prognosis is less negative. Liver transplantation is the most appropriate therapeutic method, nevertheless, only a few patients can receive it. The most suitable “bridge treatments” or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response. Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term. Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS. PMID:23049205

  5. [Crush syndrome].

    PubMed

    Scapellato, S; Maria, S; Castorina, G; Sciuto, G

    2007-08-01

    Crush injuries and crush syndrome are common after natural (e.g. earthquake, land-slide, tornadoes, tsunami) or man-made catastrophes (e.g. wars, terrorist attacks), in fact the history of this disease is well reported both in earthquake rescue reviews and in military literature. However, there are instances due to conventional causes, such as building collapses, road traffic accident, accident at work or altered level of consciousness after stroke or drug overdose. These situations of ''big or small'' catastrophes can occur at any time and anywhere, for this reason every clinician should be prepared to address issues of crush syndrome quickly and aggressively. The treatment has to manage and to predict clinical conditions before they present themselves. In particular, acute renal failure is one of the few life-threatening complications that can be reversed. This article reviews the various evidences and summarizes the treatment strategies available. Fundamental targets in crush syndrome management are early aggressive hydration, urine alkalinization and, when possible, forced diuresis. Since electrolyte imbalance may be fatal due to arrhythmias secondary to hyperkalemia (especially associated with hypocalcemia), it's necessary to correct these abnormalities using insulin-glucose solution and/or potassium binders, and if nevertheless serum potassium levels remain high this serious disease will necessitate dialysis, which is often a vital procedure.

  6. [Sanfilippo Syndrome].

    PubMed

    Osipova, L A; Kuzenkova, L M; Namazova-Baranova, L S; Gevorkyan, A K; Podkletnova, T V; Vashakmadze, N D

    2015-01-01

    Sanfilippo syndrome (mucopolysaccharidosis type III) is a lysosomal disorder caused by a defect in the catabolism of heparan sulfate. Mucopolysaccharidosis type III is the most common type of all mucopolysaccharidoses. The pathogenic basis of the disease consists of the storage of undegraded substrate in the central nervous system. Progressive cognitive decline resulting in dementia and behavioural abnormalities are the main clinical characteristics of Sanfilippo syndrome. Mucopolysaccharidosis type III may be misdiagnosed as otherforms of developmental delay, attention deficit/hyperactivity disorder and autistic spectrum disorders because of lack of somatic symptoms, presence of mild and atypical forms of the disease. Patients with Sanfilippo syndrome may have comparatively low urinary glycosaminoglycans levels resulting in false negative urinary assay. Definitive diagnosis is made by enzyme assay on leucocytes and cultured fibroblasts. There is currently no effective treatment of mucopolysaccharidosis type III, though ongoing researches of gene, substrate reduction and intrathecal enzyme replacement therapies expect getting curative method to alter devasting damage of central nervous system in near future.

  7. Sheehan syndrome.

    PubMed

    Karaca, Züleyha; Laway, Bashir A; Dokmetas, Hatice S; Atmaca, Hulusi; Kelestimur, Fahrettin

    2016-12-22

    Sheehan syndrome or postpartum hypopituitarism is a condition characterized by hypopituitarism due to necrosis of the pituitary gland. The initial insult is caused by massive postpartum haemorrhage (PPH), leading to impaired blood supply to the pituitary gland, which has become enlarged during pregnancy. Small sella turcica size, vasospasms (caused by PPH) and/or thrombosis (associated with pregnancy or coagulation disorders) are predisposing factors; autoimmunity might be involved in the progressive worsening of pituitary functions. Symptoms are caused by a decrease or absence of one or more of the pituitary hormones, and vary, among others, from failure to lactate and nonspecific symptoms (such as fatigue) to severe adrenal crisis. In accordance with the location of hormone-secreting cells relative to the vasculature, the secretion of growth hormone and prolactin is most commonly affected, followed by follicle-stimulating hormone and luteinizing hormone; severe necrosis of the pituitary gland also affects the secretion of thyroid-stimulating hormone and adrenocorticotropic hormone. Symptoms usually become evident years after delivery, but can, in rare cases, develop acutely. The incidence of Sheehan syndrome depends, to a large extent, on the occurrence and management of PPH. Sheehan syndrome is an important cause of hypopituitarism in developing countries, but has become rare in developed countries. Diagnosis is based on clinical manifestations combined with a history of severe PPH; hormone levels and/or stimulation tests can confirm clinical suspicion. Hormone replacement therapy is the only available management option so far.

  8. How Are Myelodysplastic Syndromes Staged?

    MedlinePlus

    ... Syndromes Early Detection, Diagnosis, and Staging How Are Myelodysplastic Syndromes Scored? Doctors often group cancers into different stages ... Ask Your Doctor About Myelodysplastic Syndromes? More In Myelodysplastic Syndromes About Myelodysplastic Syndromes Causes, Risk Factors, and Prevention ...

  9. High-Resolution Imaging of Asteroids/Satellites with AO

    NASA Astrophysics Data System (ADS)

    Merline, William

    2012-02-01

    We propose to make high-resolution observations of asteroids using AO, to measure size, shape, and pole position (spin vectors), and/or to search for satellites. We have demonstrated that AO imaging allows determination of the pole/dimensions in 1 or 2 nights on a single target, rather than the years of observations with lightcurve inversion techniques that only yield poles and axial ratios, not true dimensions. Our new technique (KOALA) combines AO imaging with lightcurve and occultation data for optimum size/shape determinations. We request that LGS be available for faint targets, but using NGS AO, we will measure several large and intermediate asteroids that are favorably placed in spring/summer of 2012 for size/shape/pole. Accurately determining the volume from the often-irregular shape allows us to derive densities to much greater precision in cases where the mass is known, e.g., from the presence of a satellite. We will search several d! ozen asteroids for the presence of satellites, particularly in under-studied populations, particularly NEOs (we have recently achieved the first-ever optical image of an NEO binary [Merline et al. 2008b, IAUC 8977]). Satellites provide a real-life lab for testing collisional models. We will search for satellites around special objects at the request of lightcurve observers, and we will make a search for debris in the vicinity of Pluto, in support of the New Horizons mission. Our shape/size work requires observations over most of a full rotation period (typically several hours).

  10. LDEF results for polymer matrix composite experiment AO 180

    NASA Technical Reports Server (NTRS)

    Tennyson, R. C.

    1992-01-01

    This report represents a summary of the results obtained to-date on a polymer matrix composite experiment (AO 180) located at station D-12, about 82 deg off the 'ram' direction. Different material systems comprised of graphite, boron, and aramid (Kevlar) fiber reinforcements were studied. Although previous results were presented on in-situ thermal-vacuum cycling effects, particularly dimensional changes associated with outgassing, additional comparative data will be shown from ground-based tests on control and flight samples. The system employed was fully automated for thermal-vacuum cycling using a laser interferometer for monitoring displacements. Erosion of all three classes of materials due to atomic oxygen (AO) will also be discussed, including angle of incidence effects. Data from this experiment will be compared to published results for similar materials in other LDEF experiments. Composite materials' erosion yields will be presented on an AO design nomogram useful for estimating total material loss for given exposure conditions in low Earth orbit (LEO). Optical properties of these materials will also be compared with control samples. A survey of the damage caused by micrometeoroids/debris impacts will be addressed as they relate to polymer matrix composites. Correlations between hole size and damage pattern will be given. Reference to a new nomogram for estimating the number distribution of micrometeoroid/debris impacts for a given space structure as a function of time in LEO will be addressed based on LDEF data.

  11. Single-shot retinal imaging with AO spectral OCT

    NASA Astrophysics Data System (ADS)

    Zhang, Yan; Rha, Jungtae; Jonnal, Ravi S.; Miller, Donald T.

    2005-04-01

    We demonstrate for the first time an adaptive optics (AO) spectral OCT retina camera that acquires with unprecedented 3D resolution (2.9 μm lateral; 5.5 μm axial) single shot B-scans of the living human retina. The camera centers on a Michelson interferometer that consists of a superluminescent diode for line illuminating the subject's retinal; voice coil translator for controlling the optical path length of the reference channel; and an imaging spectrometer that is cascaded with a 12-bit area CCD array. The imaging spectrometer was designed with negligible off-axis aberrations and was constructed from stock optical components. AO was integrated into the detector channel of the interferometer and dynamically compensated for most of the ocular aberration across a 6 mm pupil. Short bursts of B-scans, with 100 Ascans each, were successfully acquired at 1 msec intervals. Camera sensitivity was found sufficient to detect reflections from all major retinal layers. Individual outer segments of photoreceptors at different retinal eccentricities were observed in vivo. Periodicity of the outer segments matched cone spacing as measured from AO flood illuminated images of the same patches of retina.

  12. AO Distal Radius Fracture Classification: Global Perspective on Observer Agreement.

    PubMed

    Jayakumar, Prakash; Teunis, Teun; Giménez, Beatriz Bravo; Verstreken, Frederik; Di Mascio, Livio; Jupiter, Jesse B

    2017-02-01

    Background The primary objective of this study was to test interobserver reliability when classifying fractures by consensus by AO types and groups among a large international group of surgeons. Secondarily, we assessed the difference in inter- and intraobserver agreement of the AO classification in relation to geographical location, level of training, and subspecialty. Methods A randomized set of radiographic and computed tomographic images from a consecutive series of 96 distal radius fractures (DRFs), treated between October 2010 and April 2013, was classified using an electronic web-based portal by an invited group of participants on two occasions. Results Interobserver reliability was substantial when classifying AO type A fractures but fair and moderate for type B and C fractures, respectively. No difference was observed by location, except for an apparent difference between participants from India and Australia classifying type B fractures. No statistically significant associations were observed comparing interobserver agreement by level of training and no differences were shown comparing subspecialties. Intra-rater reproducibility was "substantial" for fracture types and "fair" for fracture groups with no difference accounting for location, training level, or specialty. Conclusion Improved definition of reliability and reproducibility of this classification may be achieved using large international groups of raters, empowering decision making on which system to utilize. Level of Evidence Level III.

  13. Waterhouse-Friderichsen syndrome

    MedlinePlus

    ... Friderichsen syndrome; Fulminant meningococcal sepsis - Waterhouse-Friderichsen syndrome; Hemorrhagic adrenalitis ... bacteria growing (multiplying) inside the body. Symptoms include: Fever and chills Joint and muscle pain Headache Vomiting ...

  14. SIMS chemical and isotopic analysis of impact features from LDEF experiments AO187-1 and AO187-2

    NASA Technical Reports Server (NTRS)

    Stadermann, Frank J.; Amari, Sachiko; Foote, John; Swan, Pat; Walker, Robert M.; Zinner, Ernst

    1995-01-01

    Previous secondary ion mass spectrometry (SIMS) studies of extended impact features from LDEF capture cell experiment AO187-2 showed that it is possible to distinguish natural and man-made particle impacts based on the chemical composition of projectile residues. The same measurement technique has now been applied to specially prepared gold target impacts from experiment AO187-1 in order to identify the origins of projectiles that left deposits too thin to be analyzed by conventional energy-dispersive x-ray (EDX) spectroscopy. The results indicate that SIMS may be the method of choice for the analysis of impact deposits on a variety of sample surfaces. SIMS was also used to determine the isotopic compositions of impact residues from several natural projectiles. Within the precision of the measurements all analyzed residues show isotopically normal compositions.

  15. [SAPHO syndrome].

    PubMed

    Gharsallah, I; Souissi, A; Dhahri, R; Boussetta, N; Sayeh, S; Métoui, L; Ajili, F; Louzir, B; Othmani, S

    2014-09-01

    SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis) syndrome is a rare entity characterized by the association of heterogeneous osteoarticular and cutaneous manifestations that have for common denominator an aseptic inflammatory process. The etiopathogeny of this disease is still a matter of debate. Although it has been related to the spondylarthritis family, an infectious origin is suggested. Diagnosis is based on the presence of at least one of the three diagnostic criteria proposed by Kahn. The treatment includes NSAIDs, antibiotics, corticosteroids, methotrexate and more recently the bisphosphonates and the TNFα inhibitors.

  16. Postmenopausal syndrome

    PubMed Central

    Dalal, Pronob K.; Agarwal, Manu

    2015-01-01

    Menopause is one of the most significant events in a woman's life and brings in a number of physiological changes that affect the life of a woman permanently. There have been a lot of speculations about the symptoms that appear before, during and after the onset of menopause. These symptoms constitute the postmenopausal syndrome; they are impairing to a great extent to the woman and management of these symptoms has become an important field of research lately. This chapter attempts to understand these symptoms, the underlying pathophysiology and the management options available. PMID:26330639

  17. Jacobsen syndrome.

    PubMed

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-03-07

    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe

  18. Kartagener syndrome.

    PubMed

    Casanova, M S; Tuji, F M; Yoo, H J; Haiter-Neto, F

    2006-09-01

    Kartagener syndrome (KS), an autosomal recessively inherited disease, is characterized by the triad of situs inversus, bronchiectasis and sinusitis. This disorder affects the activity of proteins important to the movement of cilia, especially in the respiratory tract and the spermatozoa, developing a series of systemic alterations, which can be diagnosed through radiographic examination. The aim of this paper is to describe a clinical case of this unusual pathology, including a brief literature review, emphasising the radiographic aspects of this pathology and stressing the importance of early diagnosis, which could be determined by an oral radiologist.

  19. [Metabolic syndrome].

    PubMed

    Takata, Hiroshi; Fujimoto, Shimpei

    2013-02-01

    Metabolic syndrome (Mets) is a combination of disorders including abdominal obesity, impaired glucose tolerance, dyslipidemia and hypertension, which increases risk for cardiovascular disease (CVD) and type 2 diabetes when occurring together. In Japan, diagnosis criteria of Mets consists of an increased waist circumference and 2 or more of CVD risk factors. Annual health checkups and health guidance using Mets criteria were established in 2008 for the prevention of life-style related diseases in Japan. In this issue, history and diagnostic criteria of Mets and concerns for Mets concept were described.

  20. Toxic Shock Syndrome

    MedlinePlus

    ... burn to avoid getting a staph infection. Toxic shock syndrome treatment Because toxic shock syndrome gets worse quickly, you may be seriously ... toxic shock syndrome in a wound? Resources Toxic Shock Syndrome ... treatment, women's health Family Health, Women January 2017 Copyright © ...

  1. Facts about Down Syndrome

    MedlinePlus

    ... Us Information For... Media Policy Makers Facts about Down Syndrome Language: English Español (Spanish) Recommend on Facebook Tweet ... with Down syndrome. View charts » What is Down Syndrome? Down syndrome is a condition in which a ...

  2. Down Syndrome (For Parents)

    MedlinePlus

    ... Old Feeding Your 1- to 2-Year-Old Down Syndrome KidsHealth > For Parents > Down Syndrome Print A A ... Help en español El síndrome de Down About Down Syndrome Down syndrome (DS), also called Trisomy 21, is ...

  3. KBG syndrome.

    PubMed

    Brancati, Francesco; Sarkozy, Anna; Dallapiccola, Bruno

    2006-12-12

    KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with or without seizures) and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7-8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  4. KBG syndrome

    PubMed Central

    Brancati, Francesco; Sarkozy, Anna; Dallapiccola, Bruno

    2006-01-01

    KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with or without seizures) and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment. PMID:17163996

  5. Klinefelter syndrome.

    PubMed

    Smyth, C M; Bremner, W J

    1998-06-22

    Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variability in clinical expression, lack many of these features. Treatment consists of testosterone replacement therapy to correct the androgen deficiency and to provide patients with appropriate virilization. This therapy also has positive effects on mood and self-esteem and has been shown to protect against osteoporosis, although it will not reverse infertility. Although the diagnosis of Klinefelter syndrome is now made definitively using chromosomal karyotyping, revealing in most instances a 47,XXY genotype, the diagnosis also can be made using a careful history and results of a physical examination, with the hallmark being small, firm testes. As it affects 1 in 500 male patients and presents with a variety of clinical features, primary care physicians should be familiar with this condition.

  6. Sheehan's syndrome.

    PubMed

    Kilicli, Fatih; Dokmetas, Hatice Sebila; Acibucu, Fettah

    2013-04-01

    Sheehan's syndrome (SS) is characterized by various degrees of hypopituitarism, and develops as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. Increased pituitary volume, small sella size, disseminated intravascular coagulation and autoimmunity are the proposed factors in the pathogenesis of SS. Hormonal insufficiencies, ranging from single pituitary hormone insufficiency to total hypopituitarism, are observed in patients. The first most important issue in the diagnosis is being aware of the syndrome. Lack of lactation and failure of menstrual resumption after delivery that complicated with severe hemorrhage are the most important clues in diagnosing SS. The most frequent endocrine disorders are the deficiencies of growth hormone and prolactin. In patients with typical obstetric history, prolactin response to TRH seems to be the most sensitive screening test in diagnosing SS. Other than typical pituitary deficiency, symptoms such as anemia, pancytopenia, osteoporosis, impairment in cognitive functions and impairment in the quality of life are also present in these patients. Treatment of SS is based on the appropriate replacement of deficient hormones. Growth hormone replacement has been found to have positive effects; however, risk to benefit ratio, side effects and cost of the treatment should be taken into account.

  7. Identification of system misregistrations during AO-corrected observations

    NASA Astrophysics Data System (ADS)

    Béchet, C.; Thiébaut, É.; .; Tallon, M.; Kolb, J.; Madec, P.-Y.

    2011-09-01

    The E-ELT will be equipped with a deformable mirror inside the telescope. The performance of reconstruction and control depends on the calibration of the interaction matrix- or a model of the interaction matrix- , which characterizes the system and the relationship between the commands sent to the deformable mirrors (DM) and the wavefront sensors (WFS) slopes. Such a calibration will be more complex than for the current systems at the VLT since it will have to be at least partly measured on sky and for a much larger number of degrees of freedom (more than 5000). In addition, gravity or temperature variations for instance are likely to introduce slow evolution of the matching between the M4 Deformable mirror and the WFS geometry. This can occur during observations and therefore degrade the adaptive optics (AO) correction. To relax the need of frequent painful calibrations and to prevent a loss of performance due to misregistrations, we investigate how to track the evolution of the interaction matrix errors in closed-loop without introducing any degradation in the observations. This is done thanks to identification methods and optimization theory. First, we formally describe the problem and the difficulties of such an identification in closed-loop configuration. Then, we present 2 solutions, based on the optimization of the error of estimates of the WFS slopes, at the output of the closed-loop AO. The performance of the methods and their limitations are discussed formally and thanks to numerical simulations of a high order AO system. We finally explore to which extent these methods currently studied for the Adaptive Optics Facility (AOF) at the VLT can be applied to the E-ELT.

  8. Green FLASH: energy efficient real-time control for AO

    NASA Astrophysics Data System (ADS)

    Gratadour, D.; Dipper, N.; Biasi, R.; Deneux, H.; Bernard, J.; Brule, J.; Dembet, R.; Doucet, N.; Ferreira, F.; Gendron, E.; Laine, M.; Perret, D.; Rousset, G.; Sevin, A.; Bitenc, U.; Geng, D.; Younger, E.; Andrighettoni, M.; Angerer, G.; Patauner, C.; Pescoller, D.; Porta, F.; Dufourcq, G.; Flaischer, A.; Leclere, J.-B.; Nai, A.; Palazzari, P.; Pretet, D.; Rouaud, C.

    2016-07-01

    The main goal of Green Flash is to design and build a prototype for a Real-Time Controller (RTC) targeting the European Extremely Large Telescope (E-ELT) Adaptive Optics (AO) instrumentation. The E-ELT is a 39m diameter telescope to see first light in the early 2020s. To build this critical component of the telescope operations, the astronomical community is facing technical challenges, emerging from the combination of high data transfer bandwidth, low latency and high throughput requirements, similar to the identified critical barriers on the road to Exascale. With Green Flash, we will propose technical solutions, assess these enabling technologies through prototyping and assemble a full scale demonstrator to be validated with a simulator and tested on sky. With this R&D program we aim at feeding the E-ELT AO systems preliminary design studies, led by the selected first-light instruments consortia, with technological validations supporting the designs of their RTC modules. Our strategy is based on a strong interaction between academic and industrial partners. Components specifications and system requirements are derived from the AO application. Industrial partners lead the development of enabling technologies aiming at innovative tailored solutions with potential wide application range. The academic partners provide the missing links in the ecosystem, targeting their application with mainstream solutions. This increases both the value and market opportunities of the developed products. A prototype harboring all the features is used to assess the performance. It also provides the proof of concept for a resilient modular solution to equip a large scale European scientific facility, while containing the development cost by providing opportunities for return on investment.

  9. 76 FR 4726 - Avaya Global Services, AOS Service Delivery, Worldwide Services Group, Including Workers Whose...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-01-26

    ... insurance (UI) tax account under the name Nortel Networks, Inc. and Avaya Global Services, AOS Service... unemployment (UI) wages are reported through Nortel Networks, Inc. and Avaya Global Services, AOS Service... Nortel Networks, Inc., Billerica, Massachusetts (TA-W-74,411B); Avaya Global Services, AOS...

  10. Allergic acute coronary syndrome (Kounis syndrome)

    PubMed Central

    Chhabra, Lovely; Masrur, Shihab; Parker, Matthew W.

    2015-01-01

    Anaphylaxis rarely manifests as a vasospastic acute coronary syndrome with or without the presence of underlying coronary artery disease. The variability in the underlying pathogenesis produces a wide clinical spectrum of this syndrome. We present three cases of anaphylactic acute coronary syndrome that display different clinical variants of this phenomenon. The main pathophysiological mechanism of the allergic anginal syndromes is the inflammatory mediators released during a hypersensitivity reaction triggered by food, insect bites, or drugs. It is important to appropriately recognize and treat Kounis syndrome in patients with exposure to a documented allergen. PMID:26130889

  11. Measuring Geosynchronous Satellites from Stellar Appulses with AO

    DTIC Science & Technology

    2014-09-01

    geosynchronous satellites using adaptive optics on our 3.5 m telescope with a Laser Guide Star (LGS) and without a laser (Natural Guide Star, NGS), we found two...adaptive optics on our 3.5 m telescope with a Laser Guide Star (LGS) and without a laser (Natural Guide Star, NGS), we found two satellites in the... telescope using NGS AO, we targeted a geo, satellite 28868 ANIK F1-R, for study. We imaged it intermittently for 23 minutes, noticing 7 passing stars in

  12. Intramedullary locking femoral nails. Experience with the AO nail.

    PubMed Central

    Fogarty, A. B.; Yeates, H. A.

    1991-01-01

    The AO interlocking nail was introduced to the Ulster Hospital, Dundonald in 1988 and since then has been used in over 50 patients with femoral shaft fractures. We have reviewed 45 patients with 46 femoral shaft fractures treated between June 1988 and April 1990. These included four compound fractures and 13 comminuted fractures. The results compare favourably with other series. The union rate was 98% and there were no instances of deep infection. The alternative treatment methods available are discussed along with a review of the relevant literature. Images Fig 3 Fig 5 PMID:1785145

  13. LDEF (Postflight), AO201 : Interplanetary Dust Experiment, Tray C03

    NASA Technical Reports Server (NTRS)

    1990-01-01

    LDEF (Postflight), AO201 : Interplanetary Dust Experiment, Tray C03 The IDE mounting plate and the detector frames are coated with a brown stain similiar to that seen on the other experiments in this and other trays located nearby. The stain seems to be slightly darker along the lower edge of the solar sensor mounting plate. The colors and designs seen on the detectors are reflections of the surrounding area. The thin brown film on the detectors metallic surface has resulted in a duller reflection of a technician, in the upper left, and other items.

  14. Metabolic Syndrome: Polycystic Ovary Syndrome.

    PubMed

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy.

  15. Titanium alloys (AoN) and their involvement in osseointegration

    PubMed Central

    Danza, Matteo; Zollino, Ilaria; Candotto, Valentina; Cura, Francesca; Carinci, Francesco

    2012-01-01

    Background: Osseointegration is essential for a long-term successful and inflammation-free dental implant. Such a result depends on osteoblastic cells growth and differentiation at the tissue-implant interface. The aim of this study was to compare two different AoN titanium layers (GR4 and GR5) to investigate which one had a greater osteoconductive power using human osteoblasts (HOb) culture at two different time-points. Materials and Methods: The expression levels of some bone-related (ALPL, COL1A1, COL3A1, SPP1, RUNX2, and SPARC) were analyzed using real time reverse transcription-polymerase chain reaction (real time RT-PCR). Results: Real-time RT-PCR data showed that after 3 days of treatment with TiA4GR, the genes up-regulated were COL3A1, ALPL, SPP1, and RUNX2. Moreover, no difference in gene expression was noticed 4 days later. On the other hand, the genes that overexpressed after 3 days of treatment with AoN5GR were ALPL, SPP1, and RUNX2. In both cases, the expression of COL1A1 and SPARC was negatively regulated. Conclusion: Our data showed that both titanium surfaces led to osteoblasts recruitment, maturation, and differentiation, thus promoting osseointegration at the tissue-implant interface. PMID:23814585

  16. Illuminating Free-floating Planet Demographics with Keck AO

    NASA Astrophysics Data System (ADS)

    Henderson, Calen B.

    2017-01-01

    The frequency and mass function of free-floating planets (FFPs) are unknown. Gravitational microlensing is able to explore the demographics of FFPs, which are identifiable as short-timescale microlensing events, lasting of-order 1 day for Jupiter-mass planets. In 2011, the MOA ground-based microlensing survey group announced the discovery of an excess of short-timescale microlensing events over what was expected from Galactic models that incorporate stellar densities and kinematics. They account for this excess by positing a population of Jupiter-mass FFPs that outnumbers stars by a ratio of nearly 2:1. However, there are several other possible astrophysical explanations for short-timescale microlensing events, including bound planets on wide orbits and high-velocity stars. Although the specific events identified by MOA lack mass measurements, high-resolution imaging can determine whether the lens systems are luminous, which would exclude the FFP conclusion through proof by contradiction. We have taken H-band adaptive optics (AO) observations of the MOA FFP candidates using NIRC2 on Keck II in order to test this result. Here I will present preliminary results from these AO observations, which will help inform our understanding of the demographics of FFPs.

  17. Noonan syndrome.

    PubMed

    Turner, Anne M

    2014-10-01

    Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability. Mildly affected adults may not be diagnosed until the birth of a more obviously affected child. The phenotype is highly variable. Important progress in understanding the molecular basis of this and other related conditions was made in 2001 when germline mutations in the PTPN11 gene were found to account for ∼50% of cases. Since then, mutations in additional genes in the rat sarcoma (RAS) pathway have been identified in a proportion of the remainder. Molecular confirmation of diagnosis is now possible for many families and has become increasingly important in guiding management. Increased awareness by paediatricians will lead to earlier diagnosis, and provide patients and their families with accurate genetic counselling, including options when planning pregnancy.

  18. Fraser Syndrome.

    PubMed

    Saleem, Adnan Aslam; Siddiqui, Sorath Noorani

    2015-10-01

    Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations of the ear and nose, orofacial clefting and musculoskeletal defects. FS is genetically heterogeneous; so far mutations in FRAS1, FREM2 and GRIP1 genes have been linked to FS. FS can be diagnosed on clinical examination, pre-natal ultrasound or perinatal autopsy. We present a case of a 3 months old child born to consanguineous healthy parents with bilateral complete CO, unilateral microphthalmia, hypertelorism, syndactyly (hands and feet bilaterally), ambiguous genitalia with cryptorchidism and an umbilical hernia. We also present the criteria for diagnosing FS and the significant features on pre-natal ultrasonography. Around 200 case reports of patients with FS and CO have been published. To our knowledge, this is the first reported case of FS in Pakistan.

  19. Pisa Syndrome.

    PubMed

    Michel, Sáenz Farret; Arias Carrión, Oscar; Correa, Thalia Estefania Sánchez; Alejandro, Pellene Luis; Micheli, Federico

    2015-01-01

    Lateral trunk flexion is often seen in patients with Parkinson disease, sometimes coming on as a subacute phenomenon associated with medication adjustments, and in others with gradual onset that seems related to a neurodegenerative process related to the evolution of the disease.Either acute or subacute presentations seem to be pure abnormalities in the coronal plane and are usually reversible. However, a chronic form occurs often in a combined fashion with anteroposterior flexion (camptocormia), improves only partially, remains stable, or even worsens over time.The acute/subacute phenotype is the condition originally named as Pisa syndrome (PS).The pathophysiology of PS remains poorly understood, and a cholinergic-dopaminergic imbalance has been suggested as being involved in the cause of this disorder. The role of other neurotransmitters and how they become dysfunctional in PS remains to be elucidated.Specific treatments, other than discontinuing the medications responsible for the disorder, whenever possible, are undeveloped because of the unknown etiology.

  20. Olmsted syndrome.

    PubMed

    Ali, M E; Sikdar, A U; Akhtar, N; Islam, Z M

    2007-01-01

    Olmsted syndrome is a rare disorder characterized by symmetrical sharply marginated mutilating keratoderma of palms & soles & hyperkeratotic plaques around the body orifices, onychodystrophy, ainhum & amputation of digital phalanges, flextion deformities of the fingers, localized alopecia, leukokeratosis of the tongue, shortness of stature & laxity of large joints. Inheritance is autosomal dominant, although sporadic cases have been reported. Here we describe two cases of this rare disorder with thickened hyperkeratotic lesion over palm & soles & along with amputation of 3rd , 4th & 5th toes in one case. In one of our case (case no. 2) the immediate younger brother has got the same disease. Both of them were treated with tab. Neotegason 25 mg orally daily for 3 months & there was significant improvement after treatment.

  1. Noonan syndrome

    PubMed Central

    van der Burgt, Ineke

    2007-01-01

    Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care. PMID:17222357

  2. Robo-AO: autonomous and replicable laser-adaptive-optics and science system

    NASA Astrophysics Data System (ADS)

    Baranec, C.; Riddle, R.; Ramaprakash, A. N.; Law, N.; Tendulkar, S.; Kulkarni, S.; Dekany, R.; Bui, K.; Davis, J.; Burse, M.; Das, H.; Hildebrandt, S.; Punnadi, S.; Smith, R.

    2012-07-01

    We have created a new autonomous laser-guide-star adaptive-optics (AO) instrument on the 60-inch (1.5-m) telescope at Palomar Observatory called Robo-AO. The instrument enables diffraction-limited resolution observing in the visible and near-infrared with the ability to observe well over one-hundred targets per night due to its fully robotic operation. Robo-AO is being used for AO surveys of targets numbering in the thousands, rapid AO imaging of transient events and long-term AO monitoring not feasible on large diameter telescope systems. We have taken advantage of cost-effective advances in deformable mirror and laser technology while engineering Robo-AO with the intention of cloning the system for other few-meter class telescopes around the world.

  3. Prenatal Tests for Down Syndrome

    MedlinePlus

    PRENATAL TESTS FOR DOWN SYNDROME S HARE W ITH W OMEN PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart ...

  4. Treatment of Kounis syndrome.

    PubMed

    Cevik, Cihan; Nugent, Kenneth; Shome, Goutam P; Kounis, Nicholas G

    2010-09-03

    Kounis syndrome is potentially a life-threatening medical emergency with both a severe allergic reaction and acute coronary syndrome. Most of the information about this syndrome has come from the case reports. The management of these patients may be challenging for clinicians, and unfortunately guidelines have not been established yet. In this article, we review the current guidelines of acute coronary syndromes and anaphylaxis along with the published cases with Kounis syndrome secondary to beta-lactam antibiotics. We have summarized our recommendations for the work-up and treatment of Kounis syndrome from available data. Obviously, larger prospective studies are needed to establish definitive treatment guidelines for these patients.

  5. LDEF (Postflight), AO201 : Interplanetary Dust Experiment, Tray H11

    NASA Technical Reports Server (NTRS)

    1990-01-01

    LDEF (Postflight), AO201 : Interplanetary Dust Experiment, Tray H11 The Interplanetary Dust Experiment hardware has a thin brown stain on the exposed surfaces. A deeper brown stain, probably from the material underneath the small electrical cover plate of the detector frame, can be seen in the upper right corner of some of the detectors. Stain that was seen on the solar sensor base plate in the flight photograph cannot be seen because of reflected light. The colors seen in the detector's mirror like surface are reflections of the surrounding area. A dark spot seen on a detector in the third row from the top in the flight photograph, was not found in a postflight inspection. A close inspection of this photograph does reveal several impact damage locations.

  6. Experience And Results With Preoperatively Shaped AO Mandibular Reconstruction Plates

    NASA Astrophysics Data System (ADS)

    Reuters, Ulrich; Prein, Joachim; Muller, Werner

    1989-04-01

    As a rule continuous bony defects of the mandible after tumour resection are temporarily bridged with the AO reconstruction plate. To precontour the plate, CT-scans of the mandible at a scale of 1:1 6 mm above and parallel to the inferior margin are needed. Corresponding layers further cranial show the anatomy of the chin. Using a lateral cephalograph, the mandibular angle and the length of the plate in the ascending ramus are measured. Of the 19 preshaped reconstruction plates implanted, 11 did not need any intraoperative adjustment of shape. The other 8 plates needed only slight modifications of contour. Preoperative bending of the reconstruction plate reduces the time taken for the operation, protects the material and the plate is precisely shaped.

  7. The 1987 outburst of the BL Lacertid AO 0235 + 164

    NASA Astrophysics Data System (ADS)

    Webb, J. R.; Smith, A. G.

    1989-08-01

    The violently variable BL Lacertid AO 0235 + 164 displayed a 3.24 magnitude outburst in early 1987. This outburst was observed intensively from Rosemary Hill Observatory in three colors. Long term monitoring observations made at Rosemary Hill are examined in an effort to find any recurring timescales associated with this outburst and previous large amplitude outbursts. The energetics of the 1987 outburst are analyzed in terms of the Shields and Wheeler model of a magnetized accretion disk. The timescales identified in the power spectrum (2.8 and 1.6 yr) are input into the model as the storage timescales. Since the emitted energy calculated from the optical burst cannot be stored in a magnetized disk at an allowable radius, it is concluded that either the storage timescales are longer than those identified in the power spectrum, or relativistic beaming effects must be considered, with a Doppler factor of 1.3 to 1.6.

  8. LDEF (Postflight), AO201 : Interplanetary Dust Experiment, Tray C09

    NASA Technical Reports Server (NTRS)

    1990-01-01

    LDEF (Postflight), AO201 : Interplanetary Dust Experiment, Tray C09 The postflight photograph was taken prior to the experiment tray being removed from the LDEF. The tray corner clamp blocks are un-anodized aluminum and that alone accounts for the major difference in color between the corner clamp blocks and the center clamp blocks. The IDE mounting plate and the detector frames and detectors seem to be in excellent condition. Close inspection of the photograph reveals several locations where impacts on detector surfaces are visible. A faint gold or tan stain can be seen around several of the fasteners and in a rectangular configuration, near the center, along the bottom edge of the detector mounting plate. Stains can also be seen near the top right edge of the solar sensor, on the mounting plate, and around the extreme edges of the solar sensor baseplate. The colors and designs seen on the detectors are reflections of the surrounding area.

  9. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    PubMed

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  10. "Fibrositis" syndrome.

    PubMed

    Rice, J R

    1986-03-01

    There appears to be as yet undefined but significant and possibly multifactorial elements of personality, stress, or depression in the manifestations and possibly the pathogenesis of FS. If these factors, perhaps amplified by the neurophysiologic effects of disturbed sleep, produce a neurochemical disturbance in CNS function, and if this perturbation includes a reduction or impairment of function involving the pain-modulation pathways, then a simple and perhaps compelling explanation for the experience of pain in FS becomes apparent. Reduced midbrain/brainstem inhibition of ascending nociceptive impulses would clearly explain the finding of tender points in normal-appearing areas of the body, as well as the lack of segmental distribution of discomfort in FS. Local anesthetics, injected peripherally into tender points, would be expected, as is the case, to block pain and tenderness in the local area for the duration of action of the agent used. Analgesics with peripheral activity, such as aspirin and NSAIDs, are relatively ineffective in treating FS, and would be predictably so in a disorder involving reduced central pain inhibition as opposed to increased peripheral nociceptive input. It would not be surprising to find that centrally acting agents, particularly those producing enhancement of serotonergic neurons such as amitriptyline, would provide substantial or total pain relief as well as improvement in mood in a significant number of patients. Most importantly, this concept would highlight the real pain experienced by these patients and the obligation of involved physicians to appropriately diagnose and treat this common pain syndrome. Avoiding excessive conjecture, it is then permissible at the present time to conclude that: FS is a characteristic, clinically common pain syndrome in which aspects of the pain itself appear to be of physiologic origin. Although stress or inherent personality traits may play a role in FS, the relative uniformity in symptomatology

  11. The AO Pediatric Comprehensive Classification of Long Bone Fractures (PCCF)

    PubMed Central

    Joeris, Alexander; Lutz, Nicolas; Blumenthal, Andrea; Slongo, Theddy; Audigé, Laurent

    2017-01-01

    Background and purpose To achieve a common understanding when dealing with long bone fractures in children, the AO Pediatric Comprehensive Classification of Long Bone Fractures (AO PCCF) was introduced in 2007. As part of its final validation, we present the most relevant fracture patterns in the upper extremities of a representative population of children classified according to the PCCF. Patients and methods We included children and adolescents (0–17 years old) diagnosed with 1 or more long bone fractures between January 2009 and December 2011 at the university hospitals in Bern and Lausanne (Switzerland). Patient charts were retrospectively reviewed and fractures were classified from standard radiographs. Results Of 2,292 upper extremity fractures in 2,203 children and adolescents, 26% involved the humerus and 74% involved the forearm. In the humerus, 61%, and in the forearm, 80% of single distal fractures involved the metaphysis. In adolescents, single humerus fractures were more often epiphyseal and diaphyseal fractures, and among adolescents radius fractures were more often epiphyseal fractures than in other age groups. 47% of combined forearm fractures were distal metaphyseal fractures. Only 0.7% of fractures could not be classified within 1 of the child-specific fracture patterns. Of the single epiphyseal fractures, 49% were Salter-Harris type-II (SH II) fractures; of these, 94% occurred in schoolchildren and adolescents. Of the metaphyseal fractures, 58% showed an incomplete fracture pattern. 89% of incomplete fractures affected the distal radius. Of the diaphyseal fractures, 32% were greenstick fractures. 24 Monteggia fractures occurred in pre-school children and schoolchildren, and 2 occurred in adolescents. Interpretation The pattern of pediatric fractures in the upper extremity can be comprehensively described according to the PCCF. Prospective clinical studies are needed to determine its clinical relevance for treatment decisions and prognostication

  12. The AO Pediatric Comprehensive Classification of Long Bone Fractures (PCCF)

    PubMed Central

    Joeris, Alexander; Lutz, Nicolas; Blumenthal, Andrea; Slongo, Theddy; Audigé, Laurent

    2017-01-01

    Background and purpose To achieve a common understanding when dealing with long bone fractures in children, the AO Pediatric Comprehensive Classification of Long Bone Fractures (AO PCCF) was introduced in 2007. As part of its final validation, we present the most relevant fracture patterns in the lower extremities of a representative population of children classified according to the PCCF. Patients and methods We included patients up to the age of 17 who were diagnosed with 1 or more long bone fractures between January 2009 and December 2011 at either of 2 tertiary care university hospitals in Switzerland. Patient charts were retrospectively reviewed. Results More lower extremity fractures occurred in boys (62%, n = 341). Of 548 fractured long bones in the lower extremity, 25% involved the femur and 75% the lower leg. The older the patients, the more combined fractures of the tibia and fibula were sustained (adolescents: 50%, 61 of 123). Salter-Harris (SH) fracture patterns represented 66% of single epiphyseal fractures (83 of 126). Overall, 74 of the 83 SH patterns occurred in the distal epiphysis. Of all the metaphyseal fractures, 74 of 79 were classified as incomplete or complete. Complete oblique spiral fractures accounted for 57% of diaphyseal fractures (120 of 211). Of all fractures, 7% (40 of 548) were classified in the category "other", including 29 fractures that were identified as toddler’s fractures. 5 combined lower leg fractures were reported in the proximal metaphysis, 40 in the diaphysis, 26 in the distal metaphysis, and 8 in the distal epiphysis. Interpretation The PCCF allows classification of lower extremity fracture patterns in the clinical setting. Re-introduction of a specific code for toddler’s fractures in the PCCF should be considered. PMID:27882811

  13. The AO Pediatric Comprehensive Classification of Long Bone Fractures (PCCF)

    PubMed Central

    Audigé, Laurent; Slongo, Theddy; Lutz, Nicolas; Blumenthal, Andrea; Joeris, Alexander

    2017-01-01

    Background and purpose The AO Pediatric Comprehensive Classification of Long Bone Fractures (PCCF) describes the localization and morphology of fractures, and considers severity in 2 categories: (1) simple, and (2) multifragmentary. We evaluated simple and multifragmentary fractures in a large consecutive cohort of children diagnosed with long bone fractures in Switzerland. Patients and methods Children and adolescents treated for fractures between 2009 and 2011 at 2 tertiary pediatric surgery hospitals were retrospectively included. Fractures were classified according to the AO PCCF. Severity classes were described according to fracture location, patient age and sex, BMI, and cause of trauma. Results Of all trauma events, 3% (84 of 2,730) were diagnosed with a multifragmentary fracture. This proportion was age-related: 2% of multifragmentary fractures occurred in school­children and 7% occurred in adolescents. In patients diagnosed with a single fracture only, the highest percentage of multifragmentation occurred in the femur (12%, 15 of 123). In fractured paired radius/ulna bones, multifragmentation occurred in 2% (11 of 687); in fractured paired tibia/fibula bones, it occurred in 21% (24 of 115), particularly in schoolchildren (5 of 18) and adolescents (16 of 40). In a multivariable regression model, age, cause of injury, and bone were found to be relevant prognostic factors of multifragmentation (odds ratio (OR) > 2). Interpretation Overall, multifragmentation in long bone fractures in children was rare and was mostly observed in adolescents. The femur was mostly affected in single fractures and the lower leg was mostly affected in paired-bone fractures. The clinical relevance of multifragmentation regarding growth and long-term functional recovery remains to be determined. PMID:27882814

  14. HST and Keck AO Images of Vortices on Jupiter

    NASA Astrophysics Data System (ADS)

    de Pater, Imke; Wong, M.; Luszcz-Cook, S.; Adamkovics, M.; Marcus, P.; Asay-Davis, X.; Conrad, A.; Go, C.

    2009-09-01

    Observations of Jupiter were conducted in April 2006 and May 2008 with both HST (250-890 nm) and the 10-m Keck telescope. On Keck we used the near-infrared camera NIRC2, coupled to the AO system, at 1.2 to 5 micrometers. At 5 um we are sensitive to Jupiter's thermal emission in cloud-free regions of the atmosphere, while at 1.2 um we see reflected sunlight from hazes and clouds in the troposphere-stratosphere. All small ovals (i.e., all except for Oval BA and the GRS) appear to be surrounded by bright rings at 5 mu, with typical brightness temperatures of 225-250 K, and hence probing depths to 2.5-4 bar. We argue that the small vortices are columnar structures, extending down into the water cloud. Air is rising along the center of these vortices, and descending around the outer periphery; the storm systems are likely fueled by the latent heat released from the water cloud. The descending part of the vertical circulation in the larger ovals is within the ovals, likely at the location of the red ring in Oval BA, which may indicate the maximum radial distance where such return flows can take place. On 19 July 2009, amateur observer Anthony Wesley (Australia) reported a dark spot/streak on Jupiter, near a southern latitude of 56 deg, which he attributed to an impact (analogous to the SL9 impact on Jupiter). We are scheduled to observe Jupiter with the Keck AO system on 24 July 2009 UT; if observations are successful, we will report preliminary results.

  15. The AO Pediatric Comprehensive Classification of Long Bone Fractures (PCCF).

    PubMed

    Joeris, Alexander; Lutz, Nicolas; Blumenthal, Andrea; Slongo, Theddy; Audigé, Laurent

    2017-04-01

    Background and purpose - To achieve a common understanding when dealing with long bone fractures in children, the AO Pediatric Comprehensive Classification of Long Bone Fractures (AO PCCF) was introduced in 2007. As part of its final validation, we present the most relevant fracture patterns in the upper extremities of a representative population of children classified according to the PCCF. Patients and methods - We included children and adolescents (0-17 years old) diagnosed with 1 or more long bone fractures between January 2009 and December 2011 at the university hospitals in Bern and Lausanne (Switzerland). Patient charts were retrospectively reviewed and fractures were classified from standard radiographs. Results - Of 2,292 upper extremity fractures in 2,203 children and adolescents, 26% involved the humerus and 74% involved the forearm. In the humerus, 61%, and in the forearm, 80% of single distal fractures involved the metaphysis. In adolescents, single humerus fractures were more often epiphyseal and diaphyseal fractures, and among adolescents radius fractures were more often epiphyseal fractures than in other age groups. 47% of combined forearm fractures were distal metaphyseal fractures. Only 0.7% of fractures could not be classified within 1 of the child-specific fracture patterns. Of the single epiphyseal fractures, 49% were Salter-Harris type-II (SH II) fractures; of these, 94% occurred in schoolchildren and adolescents. Of the metaphyseal fractures, 58% showed an incomplete fracture pattern. 89% of incomplete fractures affected the distal radius. Of the diaphyseal fractures, 32% were greenstick fractures. 24 Monteggia fractures occurred in pre-school children and schoolchildren, and 2 occurred in adolescents. Interpretation - The pattern of pediatric fractures in the upper extremity can be comprehensively described according to the PCCF. Prospective clinical studies are needed to determine its clinical relevance for treatment decisions and

  16. The AO Pediatric Comprehensive Classification of Long Bone Fractures (PCCF).

    PubMed

    Audigé, Laurent; Slongo, Theddy; Lutz, Nicolas; Blumenthal, Andrea; Joeris, Alexander

    2017-04-01

    Background and purpose - The AO Pediatric Comprehensive Classification of Long Bone Fractures (PCCF) describes the localization and morphology of fractures, and considers severity in 2 categories: (1) simple, and (2) multifragmentary. We evaluated simple and multifragmentary fractures in a large consecutive cohort of children diagnosed with long bone fractures in Switzerland. Patients and methods - Children and adolescents treated for fractures between 2009 and 2011 at 2 tertiary pediatric surgery hospitals were retrospectively included. Fractures were classified according to the AO PCCF. Severity classes were described according to fracture location, patient age and sex, BMI, and cause of trauma. Results - Of all trauma events, 3% (84 of 2,730) were diagnosed with a multifragmentary fracture. This proportion was age-related: 2% of multifragmentary fractures occurred in school-children and 7% occurred in adolescents. In patients diagnosed with a single fracture only, the highest percentage of multifragmentation occurred in the femur (12%, 15 of 123). In fractured paired radius/ulna bones, multifragmentation occurred in 2% (11 of 687); in fractured paired tibia/fibula bones, it occurred in 21% (24 of 115), particularly in schoolchildren (5 of 18) and adolescents (16 of 40). In a multivariable regression model, age, cause of injury, and bone were found to be relevant prognostic factors of multifragmentation (odds ratio (OR) > 2). Interpretation - Overall, multifragmentation in long bone fractures in children was rare and was mostly observed in adolescents. The femur was mostly affected in single fractures and the lower leg was mostly affected in paired-bone fractures. The clinical relevance of multifragmentation regarding growth and long-term functional recovery remains to be determined.

  17. The AO Pediatric Comprehensive Classification of Long Bone Fractures (PCCF).

    PubMed

    Joeris, Alexander; Lutz, Nicolas; Blumenthal, Andrea; Slongo, Theddy; Audigé, Laurent

    2017-04-01

    Background and purpose - To achieve a common understanding when dealing with long bone fractures in children, the AO Pediatric Comprehensive Classification of Long Bone Fractures (AO PCCF) was introduced in 2007. As part of its final validation, we present the most relevant fracture patterns in the lower extremities of a representative population of children classified according to the PCCF. Patients and methods - We included patients up to the age of 17 who were diagnosed with 1 or more long bone fractures between January 2009 and December 2011 at either of 2 tertiary care university hospitals in Switzerland. Patient charts were retrospectively reviewed. Results - More lower extremity fractures occurred in boys (62%, n = 341). Of 548 fractured long bones in the lower extremity, 25% involved the femur and 75% the lower leg. The older the patients, the more combined fractures of the tibia and fibula were sustained (adolescents: 50%, 61 of 123). Salter-Harris (SH) fracture patterns represented 66% of single epiphyseal fractures (83 of 126). Overall, 74 of the 83 SH patterns occurred in the distal epiphysis. Of all the metaphyseal fractures, 74 of 79 were classified as incomplete or complete. Complete oblique spiral fractures accounted for 57% of diaphyseal fractures (120 of 211). Of all fractures, 7% (40 of 548) were classified in the category "other", including 29 fractures that were identified as toddler's fractures. 5 combined lower leg fractures were reported in the proximal metaphysis, 40 in the diaphysis, 26 in the distal metaphysis, and 8 in the distal epiphysis. Interpretation - The PCCF allows classification of lower extremity fracture patterns in the clinical setting. Re-introduction of a specific code for toddler's fractures in the PCCF should be considered.

  18. Tourette Syndrome

    PubMed Central

    Chan, Lisa; Lehman, Erik; Brown, Ashley D.; Ahmad, Syeda; Berlin, Cheston

    2015-01-01

    A retrospective analysis of a 35-year single-center experience with pediatric tics and Tourette syndrome was conducted. 482 charts from 1972 to 2007 were reviewed. Follow-up surveys were mailed to last known address and 83 patients responded (17%). Response rate was affected by long interval from last visit; contact information was often incorrect as it was the address of the patient as a child. Males constituted 84%. Mean tic onset was 6.6 years. At first visit, 83% had multiple motor tics and >50% had comorbidities. 44% required only 1 visit and 90% less than 12 visits. Follow-up showed positive clinical and social outcomes in 73/83 survey responses. Of those indicating a poor outcome, mean educational level was lower and attention deficit/hyperactivity disorder and learning disabilities were significantly higher. Access to knowledgeable caregivers was a problem for adult patients. A shortage of specialists may in part be addressed by interested general pediatricians. PMID:25200367

  19. Premenstrual syndrome

    PubMed Central

    Yonkers, Kimberly Ann; O’Brien, P M Shaughn; Eriksson, Elias

    2011-01-01

    Most women of reproductive age have some physical discomfort or dysphoria in the weeks before menstruation. Symptoms are often mild, but can be severe enough to substantially affect daily activities. About 5–8% of women thus suffer from severe premenstrual syndrome (PMS); most of these women also meet criteria for premenstrual dysphoric disorder (PMDD). Mood and behavioural symptoms, including irritability, tension, depressed mood, tearfulness, and mood swings, are the most distressing, but somatic complaints, such as breast tenderness and bloating, can also be problematic. We outline theories for the underlying causes of severe PMS, and describe two main methods of treating it: one targeting the hypothalamus-pituitary-ovary axis, and the other targeting brain serotonergic synapses. Fluctuations in gonadal hormone levels trigger the symptoms, and thus interventions that abolish ovarian cyclicity, including long-acting analogues of gonadotropin-releasing hormone (GnRH) or oestradiol (administered as patches or implants), effectively reduce the symptoms, as can some oral contraceptives. The effectiveness of serotonin reuptake inhibitors, taken throughout the cycle or during luteal phases only, is also well established. PMID:18395582

  20. Angelman Syndrome.

    PubMed

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M

    2015-07-01

    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found.

  1. Antiphospholipid syndrome.

    PubMed

    Lim, Wendy

    2013-01-01

    The antiphospholipid syndrome (APS) is defined by venous or arterial thrombosis and/or pregnancy morbidity in patients with persistent presence of antiphospholipid antibodies (aPLs). Catastrophic APS is the most severe form of APS, which is associated with rapid development of microvascular thrombosis resulting in multiorgan failure in patients with aPLs. Patients with APS and catastrophic APS are recognized to have a high risk of recurrent thrombosis that can occur despite anticoagulant therapy. Although antithrombotic therapy remains the mainstay of treatment, bleeding manifestations can complicate management and contribute to increased morbidity. Patients with persistently elevated aPL levels, particularly those who exhibit positive testing for lupus anticoagulant, anticardiolipin antibodies, and anti-β2GPI antibodies (triple positivity), appear to be at increased risk for thrombosis and pregnancy complications, whereas isolated positivity for aPLs appears to be associated with low risk. Recognizing that patients with APS have different thrombotic risk profiles may assist clinicians in assessing the risks and benefits of anticoagulation. The optimal type, intensity, and duration of anticoagulation in the treatment of APS remain controversial, particularly for arterial thrombosis and recurrent thrombosis. Future studies that delineate thrombotic risk in APS and evaluate current and novel anticoagulants as well as nonanticoagulant therapies are required.

  2. Asherman's syndrome.

    PubMed

    March, Charles M

    2011-03-01

    Asherman's syndrome is being diagnosed with increasing frequency. Although it usually occurs following curettage of the pregnant or recently pregnant uterus, any uterine surgery can lead to intrauterine adhesions (IUA). Most women with IUA have amenorrhea or hypomenorrhea, but up to a fourth have painless menses of normal flow and duration. Those who have amenorrhea may also have cyclic pelvic pain caused by outflow obstruction. The accompanying retrograde menstruation may lead to endometriosis. In addition to abnormal menses, infertility and recurrent spontaneous abortion are common complaints. Hysteroscopy is the standard method to both diagnose and treat this condition. Various techniques for adhesiolysis and for prevention of scar reformation have been advocated. The most efficacious appears to be the use of miniature scissors for adhesiolysis and the placement of a balloon stent inside the uterus immediately after surgery. Postoperative estrogen therapy is prescribed to stimulate endometrial regrowth. Follow-up studies to assure resolution of the scarring are mandatory before the patient attempts to conceive as is careful monitoring of pregnancies for cervical incompetence, placenta accreta, and intrauterine growth retardation.

  3. Kawasaki Syndrome

    PubMed Central

    Rowley, Anne H.; Shulman, Stanford T.

    1998-01-01

    Kawasaki syndrome (KS) is an acute, sometimes fatal vasculitis of young children. KS has replaced acute rheumatic fever as the most common cause of acquired heart disease in children in the United States. The illness is manifested by prolonged fever, conjunctival injection, enanthem, exanthem, erythema and swelling of the hands and feet, and cervical adenopathy. These acute features of illness are self-limiting, but coronary artery abnormalities occur in 20% of untreated patients. The etiology of the illness is unknown, but its clinical and epidemiologic features are most consistent with an infectious cause. Common cardiovascular manifestations of the illness include myocarditis, pericardial effusion, and coronary artery aneurysm formation. Treatment with intravenous gamma globulin (IVGG) and aspirin within the first 10 days of illness reduces the prevalence of coronary artery abnormalities from 20% in those treated with aspirin alone to 4%. Patients who develop coronary artery aneurysms, particularly those who develop giant coronary artery aneurysms, may suffer myocardial infarction secondary to thrombosis or stenosis in the abnormal vessel. Additional research to determine the cause of KS is urgently needed to allow for improved diagnosis, more specific therapy, and prevention of the disorder. PMID:9665974

  4. Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.

    PubMed Central

    Knowlton, R G; Weaver, E J; Struyk, A F; Knobloch, W H; King, R A; Norris, K; Shamban, A; Uitto, J; Jimenez, S A; Prockop, D J

    1989-01-01

    Hereditary arthro-ophthalmopathy (AO), or Stickler syndrome, is a dominantly inherited disorder characterized by vitreo-retinal degeneration and frequently accompanied by epiphyseal dysplasia and premature degenerative joint disease. Three large families with AO were analyzed for clinical manifestations of the disease and for coinheritance of the genetic defect with RFLPs in the type II procollagen gene (COL2A1). Genetic linkage between AO and COL2A1 was demonstrated in the largest family, with a maximum LOD score of 3.52 at a recombination distance of zero. Data from a second family also supported linkage of AO and COL2A1, with a LOD score of 1.20 at a recombination distance of zero. These results are consistent with the conclusion that mutations in the COL2A1 gene are responsible for AO in these two families. In a third AO family, however, recombination between AO and COL2A1 occurred in at least one meiosis, and the data were inconclusive with respect to linkage. Images Figure 2 PMID:2573273

  5. Do We Know What Causes Myelodysplastic Syndromes?

    MedlinePlus

    ... Factors, and Prevention Do We Know What Causes Myelodysplastic Syndromes? Some cases of myelodysplastic syndrome (MDS) are linked ... Syndromes? Can Myelodysplastic Syndromes Be Prevented? More In Myelodysplastic Syndromes About Myelodysplastic Syndromes Causes, Risk Factors, and Prevention ...

  6. Polycystic Ovary Syndrome (PCOS) Fact Sheet

    MedlinePlus

    ... Health Topics > Polycystic ovary syndrome Polycystic ovary syndrome Polycystic ovary syndrome Polycystic ovary syndrome (PCOS) is a health problem ... of infertility. Expand all | Collapse all What is polycystic ovary syndrome (PCOS)? Polycystic (pah-lee-SIS-tik) ovary syndrome ( ...

  7. Dubin-Johnson syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/000242.htm Dubin-Johnson syndrome To use the sharing features on this page, please enable JavaScript. Dubin-Johnson syndrome (DJS) is a disorder passed down through ...

  8. Anisocoria and Horner's Syndrome

    MedlinePlus

    ... In children, Horner’s syndrome may be caused by neuroblastoma, a tumor arising in another part of the body. Although rare, the risk of neuroblastoma is significantly greater with acquired Horner’s syndrome than ...

  9. Stevens-Johnson Syndrome

    MedlinePlus

    ... have a genetic risk factor. References Nirken MH, et al. Stevens-Johnson syndrome and toxic epidermal necrolysis: ... com/home. Accessed Nov. 25, 2013. High WA, et al. Stevens-Johnson syndrome and toxic epidermal necrolysis: ...

  10. Polycystic Ovary Syndrome FAQ

    MedlinePlus

    f AQ FREQUENTLY ASKED QUESTIONS FAQ121 GYNECOLOGIC PROBLEMS Polycystic Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ...

  11. Marfan syndrome (image)

    MedlinePlus

    Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

  12. Toxic Shock Syndrome

    MedlinePlus

    ... toxic shock syndrome results from toxins produced by Staphylococcus aureus (staph) bacteria, but the condition may also ... a skin or wound infection. Bacteria, most commonly Staphylococcus aureus (staph), causes toxic shock syndrome. It can ...

  13. Fragile X syndrome

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/001668.htm Fragile X syndrome To use the sharing features on this page, please enable JavaScript. Fragile X syndrome is a genetic condition involving changes in part ...

  14. Fragile X Syndrome Overview

    MedlinePlus

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Overview Skip sharing on social media links Share this: Page Content The genetic disorder Fragile X syndrome, which results from mutations in a gene on ...

  15. Obesity Hypoventilation Syndrome

    MedlinePlus

    ... Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih-LA-shun) syndrome (OHS) is ... e-DE-mah), pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), cor pulmonale (pul-meh-NAL- ...

  16. Scalded skin syndrome

    MedlinePlus

    Ritter disease; Staphylococcal scalded skin syndrome (SSS) ... Scalded skin syndrome (SSS) is caused by infection with certain strains of Staphylococcus bacteria. The bacteria produce a toxin that causes the skin ...

  17. Down Syndrome (For Kids)

    MedlinePlus

    ... Dictionary of Medical Words En Español What Other Kids Are Reading Taking Care of Your Ears Taking ... people who have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome ...

  18. Treacher Collins Syndrome

    MedlinePlus

    ... loss in Treacher Collins syndrome is due to abnormalities in the structures of the outer and middle ear which conduct sound to the nerve endings in the inner ear. Thus, the loss in Treacher Collins syndrome ...

  19. Klippel-Trenaunay syndrome

    MedlinePlus

    ... present at birth. The syndrome often involves port wine stains, excess growth of bones and soft tissue, ... Symptoms of Klippel-Trenaunay syndrome include: Many port wine stains or other blood vessel problems, including dark ...

  20. Fragile X Syndrome.

    ERIC Educational Resources Information Center

    de la Cruz, Felix F.

    1985-01-01

    Physical, psychological, and cytogenic characteristics of individuals with the Fragile X syndrome are reviewed. Prospects for therapy with folic acid, prenatal diagnosis, phenotype of heterozygote for the marker X, and unresolved issues about the syndrome are discussed. (CL)

  1. What Is Marfan Syndrome?

    MedlinePlus

    ... Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts of your body. You can ... races and ethnic backgrounds. What Causes Marfan Syndrome? Connective tissue is made of many kinds of protein. One ...

  2. Beckwith-Wiedemann syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/001186.htm Beckwith-Wiedemann syndrome To use the sharing features on this page, please enable JavaScript. Beckwith-Wiedemann syndrome is a growth disorder that causes large ...

  3. Ramsay Hunt Syndrome

    MedlinePlus

    ... Overview By Mayo Clinic Staff Ramsay Hunt syndrome (herpes zoster oticus) occurs when a shingles outbreak affects the facial nerve near one of your ears. In addition to the painful shingles rash, Ramsay Hunt syndrome can cause facial paralysis ...

  4. Miller Fisher Syndrome

    MedlinePlus

    ... the eye muscles, and absence of the tendon reflexes. Like Guillain-Barré syndrome, symptoms may be preceded ... the eye muscles, and absence of the tendon reflexes. Like Guillain-Barré syndrome, symptoms may be preceded ...

  5. Sjogren's Syndrome Information Page

    MedlinePlus

    ... Tel: 301-496-4261 Sjogren's Syndrome Foundation 6707 Democracy Blvd. Suite 325 Bethesda MD Bethesda, MD 20817 ... Tel: 301-496-4261 Sjogren's Syndrome Foundation 6707 Democracy Blvd. Suite 325 Bethesda MD Bethesda, MD 20817 ...

  6. Rett Syndrome: Overview

    MedlinePlus

    ... Selected Staff Profiles Multimedia About NICHD Institute ... this: Page Content Rett syndrome is a neurological and developmental genetic disorder that occurs mostly in females. Infants with Rett syndrome seem to grow and ...

  7. Milk-alkali syndrome

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000332.htm Milk-alkali syndrome To use the sharing features on this page, please enable JavaScript. Milk-alkali syndrome is a condition in which there ...

  8. Thoracic Outlet Syndrome

    MedlinePlus

    ... TOS, including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors ... TOS, including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors ...

  9. Prader-Willi syndrome

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/001605.htm Prader-Willi syndrome To use the sharing features on this page, please enable JavaScript. Prader-Willi syndrome is a disease that is present from birth ( ...

  10. Premenstrual Syndrome (PMS) FAQ

    MedlinePlus

    ... syndrome irritable bowel syndrome thyroid disease Depression and anxiety disorders are the most common conditions that overlap with PMS. About one half of women seeking treatment for PMS have one of these ...

  11. Obesity hypoventilation syndrome (OHS)

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  12. Myofascial Pain Syndrome

    MedlinePlus

    ... worsens. Treatment options for myofascial pain syndrome include physical therapy and trigger point injections. Pain medications and relaxation ... syndrome typically includes medications, trigger point injections or physical therapy. No conclusive evidence supports using one therapy over ...

  13. Nephrotic Syndrome in Adults

    MedlinePlus

    ... Childhood Nephrotic Syndrome Hemolytic Uremic Syndrome in Children Treatment for Kidney Failure in Children Caring for a ... Sponge Kidney Kidney Dysplasia Kidney Failure Choosing a Treatment for Kidney Failure Hemodialysis Peritoneal Dialysis Kidney Transplant ...

  14. Sheehan's Syndrome (Postpartum Hypopituitarism)

    MedlinePlus

    Sheehan's syndrome Overview By Mayo Clinic Staff Sheehan's syndrome is a condition that affects women who lose a life-threatening amount of blood in childbirth or who have severe low blood pressure ...

  15. Elbow Synovial Fold Syndrome

    DTIC Science & Technology

    2007-12-01

    Density MR with arrows The clinical differential diagnosis of plica syndrome includes lateral epicondylitis (aka tennis elbow ), loose bodies... Elbow Synovial Fold Syndrome Radiology Corner Elbow Synovial Fold Syndrome Guarantor: CPT Amit Sanghi, USA, MC FS Contributors: CPT Amit...the case of a 17 year old female with elbow synovial fold syndrome (aka plica synovialis). The etiology is thought to be related to repetitive

  16. Lethal multiple pterygium syndrome

    PubMed Central

    Joshi, Tulika; Noor, Nazia Nagori; Kural, Moolraj; Tripathi, Amita

    2016-01-01

    The multiple pterygium syndrome is consist of wide range of fetal malformations which have a genetic linkage. A defect in embryonic acetylcholine receptor which can be inherited as autosomal recessive, autosomal dominant, or X-linked fashion is the cause of this syndrome. We present a sporadic case of lethal multiple pterygium syndrome. PMID:27843868

  17. Cardio-renal syndrome

    PubMed Central

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome. PMID:27635229

  18. The Axenfeld syndrome and the Rieger syndrome.

    PubMed Central

    Fitch, N; Kaback, M

    1978-01-01

    A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence. Images PMID:416212

  19. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    PubMed

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  20. Robo-AO KP: A new era in robotic adaptive optics

    NASA Astrophysics Data System (ADS)

    Riddle, Reed L.; Baranec, Christoph; Law, Nicholas M.; Kulkarni, Shrinivas R.; Duev, Dmitry; Ziegler, Carl; Jensen-Clem, Rebecca M.; Atkinson, Dani Eleanor; Tanner, Angelle M.; Zhang, Celia; Ray, Amy

    2016-01-01

    Robo-AO is the first and only fully automated adaptive optics laser guide star AO instrument. It was developed as an instrument for 1-3m robotic telescopes, in order to take advantage of their availability to pursue large survey programs and target of opportunity observations that aren't possible with other AO systems. Robo-AO is currently the most efficient AO system in existence, and it can achieve an observation rate of 20+ science targets per hour. In more than three years of operations at Palomar Observatory, it has been quite successful, producing technology that is being adapted by other AO systems and robotic telescope projects, as well as several high impact scientific publications. Now, Robo-AO has been selected to take over operation of the Kitt Peak National Observatory 2.1m telescope. This will give Robo-AO KP the opportunity to pursue multiple science programs consisting of several thousand targets each during the three years it will be on the telescope. One-sixth of the observing time will be allocated to the US community through the NOAO TAC process. This presentation will discuss the process adapting Robo-AO to the KPNO 2.1m telescope, the plans for integration and initial operations, and the science operations and programs to be pursued.

  1. Fat embolism syndrome

    PubMed Central

    George, Jacob; George, Reeba; Dixit, R.; Gupta, R. C.; Gupta, N.

    2013-01-01

    Fat embolism syndrome is an often overlooked cause of breathlessness in trauma wards. Presenting in a wide range of clinical signs of varying severity, fat embolism is usually diagnosed by a physician who keeps a high degree of suspicion. The clinical background, chronology of symptoms and corroborative laboratory findings are instrumental in a diagnosis of fat embolism syndrome. There are a few diagnostic criteria which are helpful in making a diagnosis of fat embolism syndrome. Management is mainly prevention of fat embolism syndrome, and organ supportive care. Except in fulminant fat embolism syndrome, the prognosis is usually good. PMID:23661916

  2. Burning mouth syndrome.

    PubMed

    Crow, Heidi C; Gonzalez, Yoly

    2013-02-01

    Pain in the tongue or oral tissues described as "burning" has been referred to by many terms including burning mouth syndrome. When a burning sensation in the mouth is caused by local or systemic factors, it is called secondary burning mouth syndrome and when these factors are treated the pain will resolve. When burning mouth syndrome occurs in the absence of identified risk indicators, the term primary burning mouth syndrome is utilized. This article focuses on descriptions, etiologic theories, and management of primary burning mouth syndrome, a condition for which underlying causative agents have been ruled out.

  3. [Postpartum endocrine syndrome].

    PubMed

    Ducarme, G; Châtel, P; Luton, D

    2008-05-01

    Postpartum endocrine syndromes occur in the year after delivery. They are due to immunologic and vascular modifications during pregnancy. The Sheehan syndrome is the first described postpartum endocrine syndrome and consists on a hypophyse necrosis in relation with a hypovolemic shock during delivery. The immunologic consequences of the pregnancy are the most frequent, sometimes discrete and transitory. The physiological evolution of the endocrine glands during pregnancy and the most frequent post-partum endocrine syndromes are discussed: postpartum lymphocytic hypophysitis, thyroiditis and Sheehan' syndrome.

  4. LDEF (Postflight), AO201 : Interplanetary Dust Experiment, Tray G10

    NASA Technical Reports Server (NTRS)

    1990-01-01

    LDEF (Postflight), AO201 : Interplanetary Dust Experiment, Tray G10 The IDE experiment appears to be in excellent condition in the postflight photograph. All bond joints seem to have survived the space environment and the experiment hardware seems to be intact. The direction and intensity of the artificial light source has caused hot spots and reflections that tend to wash out the brown stain on the exposed surfaces. A close inspection of individual detectors reveal locations where impacts have occurred and damage is present. In the detector layout in the lower left corner of the tray, two detectors continue to show the discolorations observed in the flight photograph. A triangular shape can be seen in the detector located in the second horizontal row from the bottom and the second vertical row from the left. The other detector, located in the third horizontal row from the bottom and the fourth vertical row from the left has an irregular shaped, very faint, discolora tion. The blue color in the detectors metallic surface is caused by reflections of the surrounding area.

  5. Atomic oxygen effects on LDEF experiment AO171

    NASA Technical Reports Server (NTRS)

    Whitaker, Ann F.; Kamenetzky, Rachel R.; Finckenor, Miria M.; Norwood, Joseph K.

    1993-01-01

    The Solar Array Materials Passive Long Duration Exposure Facility (LDEF) Experiment (SAMPLE), AO171, contained in total approximately 100 materials and materials processes with a 300 specimen complement. With the exception of experiment solar cell and solar cell modules, all test specimens were weighed before flight, thus allowing an accurate determination of mass loss as a result of space exposure. Since almost all of the test specimens were thermal vacuum baked before flight, the mass loss sustained can be attributed principally to atomic oxygen attack. The atomic oxygen effects observed and measured in five classes of materials is documented. The atomic oxygen reactivity values generated for these materials are compared to those values derived for the same materials from exposures on short term shuttle flights. An assessment of the utility of predicting long term atomic oxygen effects from short term exposures is given. This experiment was located on Row 8 position A which allowed all experiment materials to be exposed to an atomic oxygen fluence of 6.93 x 10(exp 21) atoms/cm(sup 2) as a result of being positioned 38 degrees off the RAM direction.

  6. LDEF (Flight), AO201 : Interplanetary Dust Experiment, Tray G10

    NASA Technical Reports Server (NTRS)

    1990-01-01

    LDEF (Flight), AO201 : Interplanetary Dust Experiment, Tray G10 The flight/on-orbit photograph of the G10 experi ment tray was taken from the Orbiter aft flight deck during the LDEF retrieval. A light brown stain can be seen on the experiment tray flanges and to a lesser degree on the IDE Chemglaze Z tained their integrity. A light tan stain on the solar sensor base plate, located in the center of the tray, is more easily seen than that on the IDE mounting plate. Surface defects are highly visible due to the lighting conditions existing at the time the photograph was taken. The lighting angle is such that many impact craters can be seen. Two (2) detectors, located in the twenty (20) detector layout in the lower left corner of the tray, seem to have defects. A triangular shaped discoloration appears on the second detector from the left and in the second row from the bottom. Another irregular shaped discoloration can be seen on the fourth detector from the left and in the third row from the bottom. These discolorations appear to be due to material and/or fabrication defects and not reflected light. The blue colors on the detector's mirror like surface are caused by reflections of the LDEF surroundings.

  7. LDEF (Flight), AO038 : Interstellar Gas Experiment, Tray H09

    NASA Technical Reports Server (NTRS)

    1990-01-01

    LDEF (Flight), AO038 : Interstellar Gas Experiment, Tray H09 The flight photograph of the Interstellar Gas Experiment was taken from the Orbiter aft flight deck during the LDEF retrieval. A very light contamination stain is present on the experiment tray flanges and on the most of the visible LDEF structure. The exception being a darker stain on the structure adjacent to thermal covers that provide venting for the LDEF interior. Both paint dots appear to be heavily coated with the brown contamination stain. The color of the white thermal control paint on the IGE has changed and now varies from off-white to a dark brown. The darker brown areas on the experiment baseplate, around the grid voltage cable connectors, appear to have come from contaminants flowing from inside the LDEF. A dark stain area can be seen on the lower half of the tray's right sidewall but a shadow hides most of the dark stain in the upper left corner of the tray. A lighter stain coats portions of the experiment baseplate and the outside of the canister housing. A beryllium copper collector foil is clearly visible in the lower left canister housing as are the baffles and reflected light from the fine wire mesh grid near the top of the canister housing. Due to an experi- ment system malfunction, the canister collector foils that are visible were exposed for the total mission.

  8. Behcet's Syndrome.

    PubMed

    Dalvi, Sam R; Yildirim, Resit; Yazici, Yusuf

    2012-12-03

    Behcet's syndrome (BS) is a vasculitis, seen more commonly around the Mediterranean and the Far East, and manifests with oral and genital ulcerations, skin lesions, uveitis, and vascular, central nervous system and gastrointestinal involvement. Its natural history of getting less severe over time, more severe disease in males and lack of specific diagnostic testing separates it from other commonly seen conditions in rheumatology. Most of the serious manifestations respond well to immunosuppression, and these are the mainstays of treatment for BS. BS is more prevalent in regions along the Silk Road, from the Mediterranean to the Far East. The genetic risk factor most strongly associated with BS is the human leukocyte antigen (HLA)-B51 allele. While genetic factors seem to play a role in the development of certain features of BS, there is general consensus that as yet unidentified environmental stimuli are necessary for initiation of disease. Proposed exogenous triggers include both bacterial and viral infections, which may then lead to dysregulation of the immune system, ultimately leading to the phenotypic expression of disease. The clinical manifestations of BS are protean in nature. While most patients develop mucocutaneous and genital ulcers along with eye disease, other patients may also present with arthritis, frank vasculitis, thrombophlebitis and CNS disease. Interestingly, the manifestations of this illness vary considerably based on gender and ethnicity. As the phenotypic expression among patients with BS is quite heterogeneous, pharmacological therapy is variable and dependent upon the severity of the disease as well as organ involvement. Treatment for BS overlaps considerably with therapies for other autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis and the vasculitides. Pharmacological agents utilized for treatment of BS include corticosteroids, colchicine, azathioprine, and tumour necrosis factor (TNF).α inhibitors

  9. [Epidemiology of Asperger's syndrome].

    PubMed

    Suzuki, Yukiko; Saito, Kazuhiko

    2007-03-01

    Only a little data is available so far on the prevalence of Asperger's syndrome. The prevalence that Fombonne (2003) estimated after considering six European research was 2/10,000. In Ishikawa's study (2006) conducted in Nagoya city, Japan, the prevalence of Asperger's syndrome was 56/10,000. Currently there are not strict diagnostic criteria of Asperger's syndrome and methods of investigation are not consistent in each study. Therefore the prevalence rate for Asperger's syndrome covered very wide range. Although we still don't have a precise prevalence data on Asperger's syndrome, the awareness of this syndrome emerged in these several decades tells us that further research and support for the children of Asperger's syndrome and their family are necessary.

  10. A Rare Variant of Wallenberg's Syndrome: Opalski syndrome.

    PubMed

    Kk, Parathan; R, Kannan; P, Chitrambalam; Aiyappan, Senthil Kumar; N, Deepthi

    2014-07-01

    Lateral Medullary Syndrome (LMS) is a well-documented vascular syndrome of the posterior circulation territory. This syndrome is easily localised because of characteristic presentation, unique territory of blood supply and very small area of involvement. We present a case of Wallenberg's syndrome which did not have all the classical components of the syndrome, like Horner's syndrome. Opalski syndrome is a rare variant of Wallenberg syndrome, where lateral medullary syndrome is associated with ipsilateral hemiparesis. This case report highlights how differential involvement of the lateral part of medulla can result in varied presentation.

  11. SCExAO as a precursor to an ELT exoplanet direct imaging instrument

    NASA Astrophysics Data System (ADS)

    Jovanovic, Nemanja; Guyon, Olivier; Martinache, Frantz; Clergeon, Christophe; Singh, Garima; Vievard, Sebastien; Kudo, Tomoyuki; Garrel, Vincent; Norris, Barnaby; Tuthill, Peter; Stewart, Paul; Huby, Elsa; Perrin, Guy; Lacour, Sylvestre

    2013-12-01

    The Subaru Coronagraphic Extreme AO (SCExAO) instrument consists of a high performance Phase Induced Amplitude Apodisation (PIAA) coronagraph combined with an extreme Adaptive Optics (AO) system operating in the near-infrared (H band). The extreme AO system driven by the 2000 element deformable mirror will allow for Strehl ratios>90% to be achieved in the H-band when it goes closed loop. This makes the SCExAO instrument a powerful platform for high contrast imaging down to angular separations of the order of 1 lambda/D and an ideal testbed for exploring coronagraphic techniques for ELTs. In this paper we report on the recent progress in regards to the development of the instrument, which includes the addition of a visible bench that makes use of the light at shorter wavelengths not currently utilized by SCExAO and closing the loop on the tip/tilt wavefront sensor. We will also discuss several exciting guest instruments which will expand the capabilities of SCExAO over the next few years; namely CHARIS which is a integral field spectrograph as well as VAMPIRES, a visible aperture masking experiment based on polarimetric analysis of circumstellar disks. In addition we will elucidate the unique role extreme AO systems will play in enabling high precision radial velocity spectroscopy for the detection of small companions.

  12. Patterns of Impairments in AOS and Mechanisms of Interaction between Phonological and Phonetic Encoding

    ERIC Educational Resources Information Center

    Laganaro, Marina

    2012-01-01

    Purpose: One reason why the diagnosis of apraxia of speech (AOS) and its underlying impairment are often debated may lie in the fact that most patients do not display pure patterns of AOS. Mixed patterns are clearly acknowledged at other levels of impairment (e.g., lexical-semantic and lexical-phonological), and they have contributed to debate…

  13. LDEF (Postflight), AO201 : Interplanetary Dust Experiment, Tray B12

    NASA Technical Reports Server (NTRS)

    1990-01-01

    LDEF (Postflight), AO201 : Interplanetary Dust Experiment, Tray B12 The postflight photograph shows little change of the exposed surfaces when compared with the prelaunch photograph. Although not noticable in the photograph, a light coating of contamination was seen on all experiment surfaces in this location. The difference in colors of the IDE detectors, located on the right hand mounting plate, is a result of the reflected surroundings and not related to space exposure. A close observation of the detector surfaces reveal that some damage has occured from meteroid and/or debris impacts. One impact crater can be seen, upper right quadrant, on the detector located in the sixth (6th) row down from the top and the fifth (5th) row from the right. Other impacts, smaller in size, show as small white dots on the detector surface. The solar sensor seems to have changed little, if any. However, the color of the solar array baseplate, showing indications of contamination, appears to be darker than the detector mounting plate. The center section cover plate shows little change when compared with the pre-launch photograph. However, during inspection, a light coat of the brown contamination has been observed on all surfaces. The color of the bonding material (RTV) used to secure several thin specimen, sapphire, to individual mounting plates has changed from pink to gold. At one location, that of a single specimen, the bonding material is more gray than gold in color. This has been attributed to the specimen being considerably thicker. The EPDS thermal cover in the right hand side of the tray shows a light coating of brown contamination on the Chemglaze II A-276 white paint.

  14. LDEF (Postflight), AO038 : Interstellar Gas Experiment, Tray H06

    NASA Technical Reports Server (NTRS)

    1990-01-01

    LDEF (Postflight), AO038 : Interstellar Gas Experiment, Tray H06 The post landing photograph was taken from the Orbiter's cargo bay access hatch during post landing operations to prepare the Orbiter for the ferry flight from the Dryden Flight Research Center to the Kennedy Space Center. A very light contamination stain is present on the experiment tray flanges and on the most of the visible LDEF structure. The exception being a much darker stain on the structure adjacent to thermal covers that provide venting for the LDEF interior. The paint dot adjacent to the thermal cover vent area is heavily coated with the brown contamination stain while the paint dot adjacent to the center end cover plate has a very light coating. The color of the white thermal control paint on the IGE has changed and now varies from offwhite to a dark brown. The darker brown areas on the experiment baseplate, around the grid voltage cable connectors, appear to have come from contaminants flowing from inside the LDEF. A dark stain area can be seen on the tray's lower sidewall and in the upper left corner of the tray. A lighter stain coats portions of the experiment baseplate and the outside of the canister housing. A beryllium copper collector foil is clearly visible within the canister housings as are the baffles and reflected light from the fine wire mesh grid near the top of the canister housing. Due to an experi- ment system malfunction, the canister collector foils that are visible were exposed for the total mission.

  15. Multi-conjugate AO for the European Solar Telescope

    NASA Astrophysics Data System (ADS)

    Montilla, I.; Béchet, C.; Le Louarn, M.; Tallon, M.; Sánchez-Capuchino, J.; Collados Vera, M.

    2012-07-01

    The European Solar Telescope (EST) will be a 4-meter diameter world-class facility, optimized for studies of the magnetic coupling between the deep photosphere and upper chromosphere. It will specialize in high spatial resolution observations and therefore it has been designed to incorporate an innovative built-in Multi-Conjugate Adaptive Optics system (MCAO). It combines a narrow field high order sensor that will provide the information to correct the ground layer and a wide field low order sensor for the high altitude mirrors used in the MCAO mode. One of the challenging particularities of solar AO is that it has to be able to correct the turbulence for a wide range of observing elevations, from zenith to almost horizon. Also, seeing is usually worse at day-time, and most science is done at visible wavelengths. Therefore, the system has to include a large number of high altitude deformable mirrors. In the case of the EST, an arrangement of 4 high altitude DMs is used. Controlling such a number of mirrors makes it necessary to use fast reconstruction algorithms to deal with such large amount of degrees of freedom. For this reason, we have studied the performance of the Fractal Iterative Method (FriM) and the Fourier Transform Reconstructor (FTR), to the EST MCAO case. Using OCTOPUS, the end-to-end simulator of the European Southern Observatory, we have performed several simulations with both algorithms, being able to reach the science requirement of a homogeneous Strehl higher that 50% all over the 1 arcmin field of view.

  16. Genetics Home Reference: Waardenburg syndrome

    MedlinePlus

    ... Type I ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (10 links) WAARDENBURG SYNDROME, TYPE 1 WAARDENBURG SYNDROME, TYPE 2A WAARDENBURG SYNDROME, TYPE ... Syndrome Type I Nayak CS, Isaacson G. Worldwide distribution of Waardenburg syndrome. Ann Otol Rhinol Laryngol. 2003 ...

  17. Lick Observatory's Shane telescope adaptive optics system (ShaneAO): research directions and progress

    NASA Astrophysics Data System (ADS)

    Gavel, Donald T.; Kupke, Renate; Rudy, Alexander R.; Srinath, Srikar; Dillon, Daren; Poyneer, Lisa A.

    2016-07-01

    We present a review of the ongoing research activity surrounding the adaptive optics system at the Shane telescope (ShaneAO) particularly the R&D efforts on the technology and algorithms for that will advance AO into wider application for astronomy. We are pursuing the AO challenges for whole sky coverage diffraction-limited correction down to visible science wavelengths. This demands high-order wavefront correction and bright artificial laser beacons. We present recent advancements in the development of MEMS based AO correction, woofer-tweeter architecture, wind-predictive wavefront control algorithms, atmospheric characterization, and a pulsed fiber amplifier guide star laser tuned for optical pumping of the sodium layer. We present the latest on-sky results from the new AO system and present status and experimental plans for the optical pumping guide star laser.

  18. Robo-AO: Initial results from the first autonomous laser guide star adaptive optics instrument

    NASA Astrophysics Data System (ADS)

    Riddle, R. L.; Baranec, C.; Law, N. M.; Ramaprakash, A. N.; Tendulkar, S.; Hogstrom, K.; Bui, K.; Burse, M.; Chordia, P.; Das, H.; Dekany, R.; Kulkarni, S.; Punnadi, S.; Smith, R.

    2014-12-01

    Large surveys are discovering thousands of objects which require further characterization at high angular resolution. The demands on space-based observatories and large telescopes with AO systems leave them generally unavailable for large high angular resolution surveys. To address this gap, we have developed Robo-AO, the first robotic laser AO system, as an economical and efficient imaging instrument for 1-3 m class telescopes. Observations of over 200 stellar objects per night have routinely been performed, with target-to-target observation overheads of less than 1.5 minutes. Scientific programs of several thousands of targets can be executed in mere weeks, and Robo-AO has already completed the three largest AO surveys to date.

  19. [Poland syndrome associated with Moebius syndrome].

    PubMed

    Prati, R; Vandelli, C; Prosdocimo, M; Piacentini, F

    1985-01-01

    We present a case of a girl with Poland's Syndrome (absence of pectoral muscle and syndactyly) associated with Moebius Syndrome. More abnormalities, especially visceral, may be associated with it and therefore the clinician must know and identify them as soon as possible. We underline the importance of a precocious correction of the hand's abnormalities in order to avoid changes in the corporal pattern otherwise not correctible later. A retard in surgical treatment will produce a failure like in our patient.

  20. Do you know this syndrome? Leopard syndrome*

    PubMed Central

    Cançado, Flávio Heleno da Silva Queiroz; da Silva, Luis Candido Pinto; Taitson, Paulo Franco; de Andrade, Ana Carolina Dias Viana; Pithon, Matheus Melo; Oliveira, Dauro Douglas

    2017-01-01

    Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment. Due to this set of symptoms, we diagnosed Leopard syndrome. PMID:28225973

  1. Basal cell nevus syndrome or Gorlin syndrome.

    PubMed

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial.

  2. SAPHO syndrome associated spondylitis.

    PubMed

    Takigawa, Tomoyuki; Tanaka, Masato; Nakanishi, Kazuo; Misawa, Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi

    2008-10-01

    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship between SAPHO syndrome with spinal lesions and seronegative spondyloarthropathy. Thirteen patients with spondylitis in SAPHO syndrome were analyzed. The features of spinal lesions were a chronic onset with a slight inflammatory reaction, and slowly progressing non-marginal syndesmophytes at multi spinal levels, besides the coexistence of specific skin lesions. SAPHO syndrome, especially spinal lesions related to palmoplantar pustulosis, can be recognized as a subtype of seronegative spondyloarthropathy.

  3. [Menopause and metabolic syndrome].

    PubMed

    Meirelles, Ricardo M R

    2014-03-01

    The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome.

  4. Spatiotemporal and species-specific patterns of diseases affecting crustose coralline algae in Curaçao

    NASA Astrophysics Data System (ADS)

    Quéré, G.; Steneck, R. S.; Nugues, M. M.

    2015-03-01

    Distribution and abundance of coral diseases have been well documented, but only a few studies considered diseases affecting crustose coralline algae (CCA), particularly at the species level. We investigated the spatiotemporal dynamics of diseases affecting CCA along the south coast of Curaçao, southern Caribbean. Two syndromes were detected: the Coralline White Band Syndrome (CWBS) previously described and the Coralline White Patch Disease (CWPD) reported here for the first time. Diseases were present at all six study sites, and our results did not reveal a relationship between disease occurrence and human influence. Both diseases were more prevalent on the shallower reef flat than on the deeper reef slope, and during the warm/rainy season than during the cold/dry season. The patterns observed were consistent with a positive link between temperature and disease occurrence. Reef flat communities were dominated by Neogoniolithon mamillare and Paragoniolithon solubile, whereas deeper habitats were dominated by Hydrolithon boergesenii. Diseases affected all the species encountered, and no preferable host was detected. There was a significant relationship between both disease occurrences and CCA cover. Monitoring of affected patches revealed that 90 % of lesions in CWBS increased in size, whereas 88 % of CWPD lesions regenerated over time. CWBS linear progression rate did not vary between seasons or species and ranged from 0.15 to 0.36 cm month-1, which is in the same order of magnitude as rates previously documented. We conclude that diseases have the potential to cause major loss in CCA cover, particularly in shallow waters. As CCA play a key role in reef ecosystems, our study suggests that the emergence of diseases affecting these algae may pose a real threat to coral reef ecosystems. The levels of disease reported here will provide a much-needed local baseline allowing future comparisons.

  5. Genetics Home Reference: Turner syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Turner syndrome Turner syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Turner syndrome is a chromosomal condition that affects development in ...

  6. Genetics Home Reference: Alagille syndrome

    MedlinePlus

    ... GeneReview: Alagille Syndrome Hartley JL, Gissen P, Kelly DA. Alagille syndrome and other hereditary causes of cholestasis. ... Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. NOTCH2 mutations cause Alagille syndrome, a ...

  7. Genetics Home Reference: Costello syndrome

    MedlinePlus

    ... Y; Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J ...

  8. Genetics Home Reference: Fryns syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Fryns syndrome Fryns syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Fryns syndrome is a condition that affects the development ...

  9. Genetics Home Reference: Miller syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Miller syndrome Miller syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Miller syndrome is a rare condition that mainly affects ...

  10. Genetics Home Reference: Jacobsen syndrome

    MedlinePlus

    ... 11 , Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen ... disorder 11q deletion syndrome 11q- deletion syndrome 11q terminal deletion disorder 11q23 deletion disorder Jacobsen thrombocytopenia Related ...

  11. Genetics Home Reference: Bloom syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Bloom syndrome Bloom syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Bloom syndrome is an inherited disorder characterized by short ...

  12. Genetics Home Reference: WAGR syndrome

    MedlinePlus

    ... signs and symptoms of WAGR syndrome can include childhood-onset obesity, inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome. ...

  13. Genetics Home Reference: Fraser syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Fraser syndrome Fraser syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Fraser syndrome is a rare disorder that affects development starting ...

  14. Genetics Home Reference: Alport syndrome

    MedlinePlus

    ... Testing Registry: Alport syndrome, X-linked recessive Other Diagnosis and Management Resources (3 links) GeneReview: Alport Syndrome and Thin Basement Membrane Nephropathy MedlinePlus Encyclopedia: Alport Syndrome MedlinePlus Encyclopedia: End-Stage ...

  15. [Chilaidity syndrome. Case report].

    PubMed

    Candela, Stefano; Candela, Giancarlo; Di Libero, Lorenzo; Argano, Francesco; Romano, Ornella; Iannella, Iolanda

    2012-01-01

    Chilaidity syndrome is a mal position by bowel mal rotation o malfissation. It is more common in right side expecially in obese people. If asyimptomatic, the syndrome is an occasional comparison by radiology, surgical exploration by laparoscopy or autopsy, otherwise, if symptomatic, there are obstructive symptoms,abdominal pain, nausea, vomiting, abdominal distension, flatulence, breath, constipation and anorexia. Diagnosis is radiological. We present a rare case of this syndrome in a man with serious obstructive symptoms.

  16. Townes-Brocks syndrome

    PubMed Central

    Powell, C.; Michaelis, R.

    1999-01-01

    Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.


Keywords: Townes-Brocks syndrome; chromosome 16q12.1; SALL1 PMID:10051003

  17. Bringing the Visible Universe into Focus with Robo-AO

    PubMed Central

    Baranec, Christoph; Riddle, Reed; Law, Nicholas M.; Ramaprakash, A.N.; Tendulkar, Shriharsh P.; Bui, Khanh; Burse, Mahesh P.; Chordia, Pravin; Das, Hillol K.; Davis, Jack T.C.; Dekany, Richard G.; Kasliwal, Mansi M.; Kulkarni, Shrinivas R.; Morton, Timothy D.; Ofek, Eran O.; Punnadi, Sujit

    2013-01-01

    focus a high-power laser beam in the direction of the astronomical target to create an artificial reference of known shape, also known as a 'laser guide star'. The Robo-AO laser adaptive optics system2,3 employs a 10-W ultraviolet laser focused at a distance of 10 km to generate a laser guide star. Wavefront sensor measurements of the laser guide star drive the adaptive optics correction resulting in diffraction-limited images that have an angular resolution of ~0.1 arc seconds on a 1.5-m telescope. PMID:23426078

  18. Bringing the visible universe into focus with Robo-AO.

    PubMed

    Baranec, Christoph; Riddle, Reed; Law, Nicholas M; Ramaprakash, A N; Tendulkar, Shriharsh P; Bui, Khanh; Burse, Mahesh P; Chordia, Pravin; Das, Hillol K; Davis, Jack T C; Dekany, Richard G; Kasliwal, Mansi M; Kulkarni, Shrinivas R; Morton, Timothy D; Ofek, Eran O; Punnadi, Sujit

    2013-02-12

    a high-power laser beam in the direction of the astronomical target to create an artificial reference of known shape, also known as a 'laser guide star'. The Robo-AO laser adaptive optics system, employs a 10-W ultraviolet laser focused at a distance of 10 km to generate a laser guide star. Wavefront sensor measurements of the laser guide star drive the adaptive optics correction resulting in diffraction-limited images that have an angular resolution of ~0.1 arc seconds on a 1.5-m telescope.

  19. LDEF: Dosimetric measurement results (AO 138-7 experiment)

    NASA Astrophysics Data System (ADS)

    Bourrieau, J.

    1993-04-01

    One of the objectives of the AO 138-7 experiment on board the Long Duration Exposure Facility (LDEF) was a total dose measurement with Thermo Luminescent Detectors (TLD 100). Two identical packages, both of them including five TLD's inside various aluminum shields, are exposed to the space environment in order to obtain the absorbed dose profile. Radiation fluence received during the total mission length was computed, taking into account the trapped particles (AE8 and AP8 models during solar maximum and minimum periods) and the cosmic rays; due to the magnetospheric shielding the solar proton fluences are negligible on the LDEF orbit. The total dose induced by these radiations inside a semi infinite plane shield of aluminum are computed with the radiation transport codes available at DERTS. The dose profile obtained is in good agreement with the evaluation by E.V. Benton. TLD readings are performed after flight; due to the mission duration increase a post flight calibration was necessary in order to cover the range of the in flight induced dose. The results obtained, similar (plus or minus 30 percent) for both packages, are compared with the dose profile computation. For thick shields it seems that the measurements exceed the forecast (about 40 percent). That can be due to a cosmic ray and trapped proton contributions coming from the backside (assumed as perfectly shielded by the LDEF structure in the computation), or to an underestimate of the proton or cosmic ray fluences. A fine structural shielding analysis should be necessary in order to determine the origin of this slight discrepancy between forecast and in flight measurements. For the less shielded dosimeters, mainly exposed to the trapped electron flux, a slight overestimation of the dose (less than 40 percent) appears. Due to the dispersion of the TLD's response, this cannot be confirmed. In practice these results obtained on board LDEF, with less than a factor 1.4 between measurements and forecast

  20. Bringing the Visible Universe into Focus with Robo-AO

    NASA Astrophysics Data System (ADS)

    Baranec, Christoph; Riddle, Reed; Law, Nicholas M.; Ramaprakash, A. N.; Tendulkar, Shriharsh P.; Bui, Khanh; Burse, Mahesh P.; Chordia, Pravin; Das, Hillol K.; Davis, Jack T. C.; Dekany, Richard G.; Kasliwal, Mansi M.; Kulkarni, Shrinivas R.; Morton, Timothy D.; Ofek, Eran O.; Punnadi, Sujit

    2013-02-01

    focus a high-power laser beam in the direction of the astronomical target to create an artificial reference of known shape, also known as a 'laser guide star'. The Robo-AO laser adaptive optics system employs a 10-W ultraviolet laser focused at a distance of 10 km to generate a laser guide star. Wavefront sensor measurements of the laser guide star drive the adaptive optics correction resulting in diffraction-limited images that have an angular resolution of ~0.1 arc seconds on a 1.5-m telescope.

  1. Locked-in syndrome.

    PubMed

    Cardwell, Michael S

    2013-02-01

    Locked-in syndrome is a rare neuropsychological disorder. Its primary features are quadriplegia and paralysis of the cranial nerves except for those responsible for vertical eye movements. The differential diagnosis includes persistent vegetative state, brain death, minimally conscious states, C3 transection of the spinal cord, and conversion locked-in syndrome. Etiologies of locked-in syndrome include hemorrhagic and thrombotic events, tumors affecting the ventral pons, infectious agents, iatrogenic causes, trauma, metabolic abnormalities, and other miscellaneous causes. The clinical manifestations, differential diagnosis, neuropsychological assessment, rehabilitation, and prognosis of patients with locked-in syndrome are discussed.

  2. [Neurobiology of Tourette Syndrome].

    PubMed

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  3. Laugier–Hunziker syndrome

    PubMed Central

    Nayak, Ramakant S; Kotrashetti, Vijayalakshmi S; Hosmani, Jagadish V

    2012-01-01

    Laugier–Hunziker syndrome is a rare acquired disorder characterized by diffuse hyperpigmentation of the oral mucosa and longitudinal melanonychia in adults. They appear as macular lesions less than 5 mm in diameter. Laugier–Hunziker syndrome is considered to be a benign disease with no systemic manifestation or malignant potential. Therefore, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. In India, the reported cases of this syndrome are very few. We provide a review of literature on Laugier–Hunziker syndrome with its differential diagnosis. PMID:22923898

  4. Diabetic Hyperosmolar Syndrome

    MedlinePlus

    ... treatment can correct diabetic hyperosmolar syndrome within hours. Treatment typically includes: Intravenous fluids to counter dehydration Intravenous insulin to lower your blood sugar levels Intravenous potassium, ...

  5. Chromosome instability syndromes

    SciTech Connect

    1993-12-31

    Chapter 11, discusses chromosome instability syndromes. The focus is on the most extensively studied genotypic chromosomal aberrations which include Bloom syndrome, Fanconi anemia, ataxia telangiectasia, and xeroderma pigmentosum. The great interest in these syndromes is out of proportion to their rare occurrence; however, studies of genotypic chromosome breakage have been inspired by the hope of throwing light on chromosome structure and behavior. A table is given which relates chromosomal aberrations in Bloom syndrome which may cause or promote cancer. 34 refs., 3 figs., 1 tab.

  6. Paraneoplastic neurological syndromes

    PubMed Central

    Leypoldt, F; Wandinger, K-P

    2014-01-01

    Paraneoplastic neurological syndromes are immune-mediated erroneous attacks on the central or peripheral nervous systems, or both, directed originally against the tumour itself. They have been known for more than 40 years, but recently the discovery of new subgroups of paraneoplastic encephalitis syndromes with a remarkably good response to immune therapy has ignited new clinical and scientific interest. Knowledge of these subgroups and their associated autoantibodies is important in therapeutic decision-making. However, the abundance of new autoantibodies and syndromes can be confusing. This review paper summarizes current knowledge and new developments in the field of paraneoplastic neurological syndromes, their classification, pathophysiology and treatment. PMID:23937626

  7. The Disuse Syndrome

    PubMed Central

    Bortz II, Walter M.

    1984-01-01

    Our cultural sedentariness, recently acquired, lies at the base of much human ill-being. Physical inactivity predictably leads to deterioration of many body functions. A number of these effects coexist so frequently in our society that they merit inclusion in a specific syndrome, the disuse syndrome. The identifying characteristics of the syndrome are cardiovascular vulnerability, obesity, musculoskeletal fragility, depression and premature aging. The syndrome is experimentally reproducible and, significantly, the clinical features are subject to both preventive and restitutive efforts that happily are cheap, safe, accessible and effective. PMID:6516349

  8. Capgras' syndrome with organic disorders.

    PubMed Central

    Collins, M. N.; Hawthorne, M. E.; Gribbin, N.; Jacobson, R.

    1990-01-01

    Capgras' syndrome, one form of the delusional misidentification syndromes, is described. Three patients with the syndrome are reported. The first had a right cerebral infarction, the second had nephrotic syndrome secondary to severe pre-eclampsia in the puerperium, and the third had uncontrolled diabetes mellitus with dementia. Evidence is reviewed regarding an organic aetiology for Capgras' syndrome. We conclude that, when the syndrome is present, a thorough search for organic disorder should be made. PMID:2084656

  9. Genetics Home Reference: Maffucci syndrome

    MedlinePlus

    ... this disorder generally have short stature and underdeveloped muscles. Maffucci syndrome is ... mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. ...

  10. Robo-AO: The First Autonomous Laser Guide Star Adaptive Optics System for Small Telescopes

    NASA Astrophysics Data System (ADS)

    Riddle, Reed L.; Baranec, C.; Ramaprakash, A. N.; Law, N.; Tendulkar, S.; Kulkarni, S.; Bui, K.; Burse, M.; Chordia, P.; Das, H.; Dekany, R.; Kasliwal, M.; Ofek, E.; Zolkower, J.

    2011-01-01

    Robo-AO will be the first fully autonomous laser guide star adaptive optics and science system. Specifically designed to take advantage of small (1 to 3 meter) telescopes, Robo-AO will deliver high angular resolution science in the visible and near infrared for up to hundreds of targets per night. This will enable the exploration of science programs not practical for larger aperture adaptive optics systems. This presentation discusses the current status of the Robo-AO project, including the laboratory testbed, laser guide star facility and plans for a demonstration of the fully autonomous system next year.

  11. Vibrations in MagAO: resonance sources identification and first approaches for modeling and control

    NASA Astrophysics Data System (ADS)

    Garcés, Javier; Zúñiga, Sebastián.; Close, Laird; Males, Jared; Morzinski, Katie; Escárate, Pedro; Castro, Mario; Marchioni, José; Rojas, Diego

    2016-07-01

    The Magellan Telescope Adaptive Optics System (MagAO) is subject to resonance effects induced by elements within the system instrumentation, such as fans and cooling pumps. Normalized PSDs are obtained through frequency-based analysis of closed-loop on-sky data, detecting and measuring vibration effects. Subsequently, a space-state model for the AO loop is obtained, using a standard AO loop scheme with an integrator-based controller and including the vibration effects as disturbances. Finally, a new control alternative is proposed, focusing on residual phase variance minimization through the design and simulation of an optimal LQG control approach.

  12. LDEF (Prelaunch), AO201 : Interplanetary Dust Experiment, Tray B12

    NASA Technical Reports Server (NTRS)

    1984-01-01

    LDEF (Prelaunch), AO201 : Interplanetary Dust Experiment, Tray B12 The prelaunch photograph shows the six (6) inch deep Interplanetary Dust Experiment (IDE) master control tray. The tray has three (3) mounting/cover plates elevated on fiberglass stand-offs to provide clearance and protection for hardware and electronics located underneath. The stand-offs also raise the plates to a level that minimizes shading of detectors by the tray sidewalls. The mounting plate located at the left hand end of the tray is populated with eighty (80) metaloxide-silicon (MOS) capacitor-type impact sensors and one (1) solar sensor that is located approximately in the center of the mounting plate. The IDE sensors are two (2) inch diameter MOS capacitor structures approximately 250 um thick. The detectors are formed by growing either 0.4um or 1.0um thick silicon oxide, SiO2, layer on the 250um thick, B-doped polished silicon wafer. The top metal contact, the visible surface, was formed by vapor deposition of 1000A of aluminum on the SiO2 surface. Aluminum was also vapor deposited on the backside to form the contact with the silicon substrate. Gold wires are bonded to the front and back aluminum layers for use in connecting the detectors to the circuits. The complete wafers, IDE detectors, are mounted on chromic anodized aluminum frames by bonding the detector backside to the aluminum frame with a space qualified RTV silicon adhesive, de-volatized RTV-511. The difference in colors of the detectors is caused by reflections in the metallized surfaces. A reflection of one of the technicians is visible in the three (3) rows of detector on the left hand side of the mounting plate. The solar sensor, located at the mounting plate center, consist of four (4) silicon solar cells connected in series and associated circuity bonded to an aluminum baseplate. The solar sensor registered each orbital sunrise independant of LDEF orientation at the time of sunrise. When IDE solar sensor data from the six

  13. Polycystic ovary syndrome and metabolic syndrome.

    PubMed

    Ali, Aus Tariq

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

  14. Cushing's Syndrome in Children

    MedlinePlus

    Cushing’s Syndrome in Children by Meg Keil, MS, CRNP How is Cushing’s syndrome (CS) in children different than in adults? · CS in children is rare. An estimated ... child or adolescent during this period. Editor’s Note: Meg Keil,MS, CRNP is a nurse practitioner at ...

  15. Epidemiology of Down Syndrome

    ERIC Educational Resources Information Center

    Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora H.; Freeman, Sallie B.

    2007-01-01

    Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

  16. Second-Impact Syndrome

    ERIC Educational Resources Information Center

    Cobb, Sarah; Battin, Barbara

    2004-01-01

    Sports-related injuries are among the more common causes of injury in adolescents that can result in concussion and its sequelae, postconcussion syndrome and second-impact syndrome (SIS). Students who experience multiple brain injuries within a short period of time (hours, days, or weeks) may suffer catastrophic or fatal reactions related to SIS.…

  17. The Othello Syndrome

    PubMed Central

    Famuyiwa, Oluwole O.; Ekpo, Micheal

    1983-01-01

    A case of the Othello syndrome is presented. In its classical form the syndrome is rare, but as with other allied paranoid states, its medicosocial implications are great. Rational management should include pharmacotherapy, conjoint family therapy after symptom remission, and long-term individual psychotherapy. PMID:6827614

  18. Learning about WAGR Syndrome

    MedlinePlus

    ... childrensoncologygroup.org to learn more about this organization. Current NHGRI Clinical Studies Search ClinicalTrials.gov [clinicaltrails.gov] Clinical Research FAQ Top of page Additional Resources for WAGR Syndrome International WAGR Syndrome Association [wagr.org] promotes international knowledge ...

  19. Tics and Tourette Syndrome

    MedlinePlus

    ... Many children who have Tourette syndrome also have attention-deficit hyperactivity disorder (also called ADHD). Children who have Tourette syndrome ... help my child?Could my child also have attention-deficit hyperactivity disorder (ADHD)?Are there other therapies that could help ...

  20. Syndrome in question*

    PubMed Central

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  1. Multiple organ dysfunction syndrome.

    PubMed

    Parke, A L; Liu, P T; Parke, D V

    2003-01-01

    Multiple organ dysfunction syndrome, including acute respiratory distress syndrome (ARDS) and renal failure, is described, its clinical features outlined, its origins in tissue oxidative stress following severe infections, surgical trauma, ionizing radiation, high-dosage drugs and chemicals, severe hemorrhage, etc., are defined, and its prevention and treatment prescribed.

  2. Sirenomelia: the mermaid syndrome.

    PubMed

    Meisheri, I V; Waigankar, V S; Patel, M P; Naregal, A; Ramesh, S; Muthal, P

    1996-10-01

    Sirenomelia, or mermaid syndrome, is the extreme form of caudal regression syndrome. We present another case of this fascinating anomaly with fused lower limbs, absent external genitalia, and absent genitourinary system. The patient could not be salvaged because of bilateral renal agenesis. Detailed autopsy findings and a review of the literature are presented.

  3. The Aarskog syndrome.

    PubMed

    Fryns, J P; Macken, J; Vinken, L; Igodt-Ameye, L; van den Berghe, H

    1978-06-09

    In this report a description is given of the Aarskog syndrome in six males belonging to three different families. Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a round face with widow's peak and, in one of them, ptosis of the eyelids.

  4. Macrocytosis in Down Syndrome.

    ERIC Educational Resources Information Center

    Wachtel, Tom J.; Pueschel, Siegfried M.

    1991-01-01

    The study, with 61 Down Syndrome (trisomy 21) adult subjects, found that macrocytosis in the absence of anemia was virtually universal and erythrocyte survival half-time was shorter than normal. Findings suggest that erythrocytes have a younger mean age in persons with Down Syndrome, possibly indicating an accelerated aging process of red blood…

  5. Down Syndrome (For Kids)

    MedlinePlus

    ... teachers and others to come up with a plan for the best way for each child to learn. Kids with Down syndrome like their playtime, too. They play sports and participate in activities, such as music lessons or dance classes. Kids with Down syndrome may ...

  6. Crigler-Najjar syndrome

    MedlinePlus

    ... counseling is recommended for people with a family history of Crigler-Najjar syndrome who want to have children. Blood tests can identify people who carry the gene. Alternative Names Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler- ...

  7. The sick building syndrome

    PubMed Central

    Joshi, Sumedha M.

    2008-01-01

    The sick building syndrome comprises of various nonspecific symptoms that occur in the occupants of a building. This feeling of ill health increases sickness absenteeism and causes a decrease in productivity of the workers. As this syndrome is increasingly becoming a major occupational hazard, the cause, management and prevention of this condition have been discussed in this article. PMID:20040980

  8. [Schizophrenia or Asperger syndrome?].

    PubMed

    Da Fonseca, David; Viellard, Marine; Fakra, Eric; Bastard-Rosset, Delphine; Deruelle, Christine; Poinso, François

    2008-09-01

    Patients with Asperger syndrome are often diagnosed late or are wrongly considered to have schizophrenia. Misdiagnosing Asperger syndrome creates serious problems by preventing effective therapy. Several clinical signs described in Asperger syndrome could also be considered as clinical signs of schizophrenia, including impaired social interactions, disabilities in communication, restricted interests, and delusions of persecution. A number of clinical features may facilitate the differential diagnosis: younger age at onset, family history of pervasive developmental disorder, recurring conversations on the same topic, pragmatic aspects of language use, oddities of intonation and pitch, lack of imagination, and incomprehension of social rules are more characteristic of Asperger syndrome. Accurate distinction between Asperger syndrome and schizophrenia would make it possible to offer more treatment appropriate to the patient's functioning.

  9. Gorlin-goltz syndrome.

    PubMed

    Mehta, Dn; Raval, N; Patadiya, H; Tarsariya, V

    2014-03-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome.

  10. The skinache syndrome.

    PubMed Central

    Bassøe, C F

    1995-01-01

    Chronic pain of unknown aetiology, and characterized by cutaneous trigger points, has been coined the skinache syndrome. The treatment of the skinache syndrome was evaluated in 94 patients by two independent methods 2 years after treatment. After one subcutaneous injection of lidocaine 68% of the patients were cured. The pain recurred in 27 patients having suffered for an average of 2 years. Surgical removal of the cutaneous trigger points cured 77% of the latter patients. The odds ratio of success of surgical treatment versus all other treatments combined was 101.3. The skinache syndrome requires a precise clinical investigation. Even when the origin of the pain in tendons, muscle and adipose tissue is excluded, the skinache syndrome remains a common, debilitating disorder. In contrast to fibromyalgia, the skinache syndrome has a simple and effective cure. PMID:8537946

  11. [Antiphospholipid syndrome and pregnancy].

    PubMed

    Gadó, Klára; Domján, Gyula

    2012-08-05

    Antiphospholipid syndrome is characterized by arterial and venous thromboembolic events and persistent laboratory evidence of antiphospholipid antibodies. Obstetric complications such as recurrent miscarriage, early delivery, oligohydramnios, prematurity, intrauterine growth restriction, fetal distress, fetal or neonatal thrombosis, pre-eclampsia/eclampsia, and HELLP syndrome are also hallmarks of antiphospholipid syndrome. This syndrome is one of the diseases associated with the most severe thrombotic risk. Changes in the hemostatic system during normal pregnancy also result in a hypercoagulable state resulting in elevated thrombotic risk. Thromboembolic events are responsible of the vast majority of maternal and fetal deaths. Administration of appropriate thromboprophylaxis helps prevent thromboembolic complications during pregnancy in women with antiphospholipid syndrome and also give birth to healthy children. It is important to centralize the medication and management of these patients. It helps in the thoughtful care of these pregnant women encountering serious problems.

  12. Gorlin-Goltz Syndrome

    PubMed Central

    Mehta, DN; Raval, N; Patadiya, H; Tarsariya, V

    2014-01-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome. PMID:24761254

  13. Heterogeneity in Waardenburg syndrome.

    PubMed Central

    Hageman, M J; Delleman, J W

    1977-01-01

    Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

  14. Eisenmenger Syndrome in Pregnancy

    PubMed Central

    Yuan, Shi-Min

    2016-01-01

    Eisenmenger syndrome is very rare in pregnant women. Debates remain concerning the management of Eisenmenger syndrome in this patient population and the prognosis is unclear in terms of maternal and fetoneonatal outcomes. Epidural analgesia is preferred for Cesarean section as it alleviates perioperative pain and reduces the pulmonary and systemic vascular resistances. Maternal mortality in the presence of Eisenmenger syndrome is reported as 30-50% and even up to 65% in those with Cesarean section. The major causes of death could be hypovolemia, thromboembolism and preeclampsia. Pregnancy should ideally be avoided in a woman with Eisenmenger syndrome concerning the high maternal mortality rate and probable poor prognosis of the baby. A short labour and an atraumatic delivery under epidural block are preferred in the women with a strong desire of pregnancy. The purpose of this article is to discuss the debates of Eisenmenger syndrome in pregnancy and the possible resolutions. PMID:27849306

  15. Closeup of CO172AO8, showing section of building 211 closest to ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    Close-up of CO-172-AO-8, showing section of building 211 closest to building 206. - Fitzsimons General Hospital, Quartermaster's Storehouse, Southwest Corner of East I Avenue & North Twelfth Street, Aurora, Adams County, CO

  16. Robo-AO: An Autonomous Laser Adaptive Optics and Science System

    NASA Astrophysics Data System (ADS)

    Baranec, Christoph; Riddle, Reed; Ramaprakash, A. N.; Law, Nicholas; Tendulkar, Shriharsh; Kulkarni, Shrinivas; Dekany, Richard; Bui, Khanh; Davis, Jack; Zolkower, Jeff; Fucik, Jason; Burse, Mahesh; Das, Hillol; Chordia, Pravin; Kasliwal, Mansi; Ofek, Eran; Morton, Timothy; Johnson, John

    2011-07-01

    Robo-AO, a fully autonomous, laser guide star adaptive optics and science system, is being commissioned at Palomar Observatory's 60-inch telescope. Here we discuss the instrument, scientific goals and results of initial on-sky operation.

  17. Te Ao Kori as Expressive Movement in Aotearoa New Zealand Physical Education Teacher Education (PETE): A Narrative Account

    ERIC Educational Resources Information Center

    Legge, Maureen

    2011-01-01

    A unique aspect of Aotearoa/New Zealand physical education is the inclusion of Maori culture in the form of te ao kori. Te ao kori translates to mean the world of movement and is represented by the interpretation of indigenous movement, games and pastimes. Participation in te ao kori means the sports-based normative frame of reference for physical…

  18. Syndrome in question: Gorlin-Goltz syndrome*

    PubMed Central

    Ribeiro, Pauline Lyrio; de Souza Filho, João Basílio; de Abreu, Karina Demoner; Brezinscki, Marisa Simon; Pignaton, Christine Chambo

    2016-01-01

    The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome. PMID:27579759

  19. VizieR Online Data Catalog: Robo-AO Kepler planetary candidate survey. II. (Baranec+, 2016)

    NASA Astrophysics Data System (ADS)

    Baranec, C.; Ziegler, C.; Law, N. M.; Morton, T.; Riddle, R.; Atkinson, D.; Schonhut, J.; Crepp, J.

    2016-10-01

    We selected targets that we had not previously observed from the KOI Catalog based on the Q1-Q12 Kepler data (Rowe et al. 2015, Cat. J/ApJS/217/16). These targets were added to the Robo-AO intelligent observing queue and observed during the summer of 2013. We obtained high angular resolution images of 956 Kepler planet candidate host stars with the Robo-AO robotic laser AOs system over the course of 19 nights between 2013 July 21 and 2013 October 25, detailed in Table5. We also include 13 images from 2012 (2012 July 16-September 13) that required additional confirmation of the KOI position in the Robo-AO field of view. All the observations were performed in a queue-scheduled mode in combination with other science programs using the Robo-AO autonomous laser AO system mounted on the robotic 1.5m telescope at Palomar Observatory (exposure time: 90s; observation wavelengths: 600-950nm; FWHM resolution: 0.12''-0.15''; field of view: 44''*44''; pixel scale: 43.1mas/pix; detector format: 10242 pixels; targets observed/hour: 20). We obtained images of 50 KOIs with the NIRC2 instrument behind the Keck II AO system that were previously observed with Robo-AO and had evidence of a companion. Observations were conducted on 2013 June 25, 2013 August 24 and 25, 2014 August 17, and 2015 July 25 in the K, Ks, or Kp filters, and in the narrow mode of NIRC2 (9.952mas/pixel). (4 data files).

  20. OPERA, an automatic PSF reconstruction software for Shack-Hartmann AO systems: application to Altair

    NASA Astrophysics Data System (ADS)

    Jolissaint, Laurent; Veran, Jean-Pierre; Marino, Jose

    2004-10-01

    When doing high angular resolution imaging with adaptive optics (AO), it is of crucial importance to have an accurate knowledge of the point spread function associated with each observation. Applications are numerous: image contrast enhancement by deconvolution, improved photometry and astrometry, as well as real time AO performance evaluation. In this paper, we present our work on automatic PSF reconstruction based on control loop data, acquired simultaneously with the observation. This problem has already been solved for curvature AO systems. To adapt this method to another type of WFS, a specific analytical noise propagation model must be established. For the Shack-Hartmann WFS, we are able to derive a very accurate estimate of the noise on each slope measurement, based on the covariances of the WFS CCD pixel values in the corresponding sub-aperture. These covariances can be either derived off-line from telemetry data, or calculated by the AO computer during the acquisition. We present improved methods to determine 1) r0 from the DM drive commands, which includes an estimation of the outer scale L0 2) the contribution of the high spatial frequency component of the turbulent phase, which is not corrected by the AO system and is scaled by r0. This new method has been implemented in an IDL-based software called OPERA (Performance of Adaptive Optics). We have tested OPERA on Altair, the recently commissioned Gemini-North AO system, and present our preliminary results. We also summarize the AO data required to run OPERA on any other AO system.

  1. East Asian winter temperature variation associated with the combined effects of AO and WP pattern

    NASA Astrophysics Data System (ADS)

    Park, Hye-Jin; Ahn, Joong-Bae

    2016-04-01

    The combined effects of the Arctic Oscillation (AO) and Western Pacific (WP) teleconnection pattern on the East Asian winter monsoon (EAWM) over the last 56 years (1958/59-2013/2014) were investigated using NCEP/NCAR reanalysis data (Park and Ahn, 2015). The study results revealed that the effect of the AO on winter temperature in East Asia could be changed depending on the phases of the WP pattern in the North Pacific. The negative relationship between the EAWM and the AO increased when the AO and WP were in-phase with each other. Hence, when winter negative (positive) AO was accompanied by negative (positive) WP, negative (positive) temperature anomalies were dominant across the entire East Asia region. Conversely, when the AO and WP were of-of-phase, the winter temperature anomaly in East Asia did not show distinct changes. Furthermore, from the perspective of stationary planetary waves, the zonal wavenumber-2 patterns of sea level pressure and geopotential height at 500hPa circulation strengthened when the AO and WP were in-phase but were not significant for the out-of-phase condition. It explained the possible mechanism of the combined effects of the AO and WP on the circulation related to EAWM. Reference Park, H.-J., and J.-B. Ahn (2015) Combined effect of the Arctic Oscillation and the Western Pacific pattern on East Asia winter temperature, Clim. Dyn. DOI:10.1007/s00382-015-2763-2. Acknowledgements This work was funded by the Korea Meteorological Administration Research and Development Program under grant KMIPA2015-2081.

  2. Guillain-Barré Syndrome

    MedlinePlus

    ... Emergency Room? What Happens in the Operating Room? Guillain-Barré Syndrome KidsHealth > For Kids > Guillain-Barré Syndrome Print ... Is GBS Treated? Recovering From GBS What Is Guillain-Barré Syndrome? Guillain-Barré syndrome (say: GHEE-yan bah- ...

  3. The Source for Syndromes 2.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different lesser-known syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Apert syndrome; (2) Beckwith-Wiedemann syndrome; (3) CHARGE syndrome; (4) Cri-du-Chat…

  4. Polycystic Ovary Syndrome (For Teens)

    MedlinePlus

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Polycystic Ovary Syndrome KidsHealth > For Teens > Polycystic Ovary Syndrome A A ... condition called polycystic ovary sydrome (PCOS) . What Is Polycystic Ovary Syndrome? Polycystic (pronounced: pol-ee-SISS-tik) ovary syndrome ...

  5. Robo-AO: Initial results from the first autonomous laser guide star adaptive optics instrument

    NASA Astrophysics Data System (ADS)

    Riddle, R.; Baranec, C.; Law, N. M.; Ramaprakash, A. N.; Tendulkar, S.; Hogstrom, K.; Bui, K.; Burse, M.; Chordia, P.; Das, H.; Dekany, R.; Kulkarni, S.; Punnadi, S.; Smith, R.

    2014-03-01

    Large surveys, such as the Kepler mission and Palomar Transient Factory, are discovering upwards of thousands of objects which require further characterization at angular resolutions significantly finer than normally allowed by atmospheric seeing. The demands on precious space-based observatories (i.e. Hubble Space Telescope) and large telescopes with adaptive optics (AO) systems (i.e. Keck, VLT, Gemini) leave them generally unavailable for high angular resolution surveys of more than a few hundred targets at a time. To address the gap between scientific objects and available telescopes, we have developed Robo-AO, the first robotic laser AO system, as an economical and efficient imaging instrument for the more readily available 1-3 m class telescopes. The Robo-AO system system demonstrates angular resolutions approaching the visible diffraction limit of the Palomar 60-inch telescope. Observations of over 200 stellar objects per night have routinely been performed, with target-to-target observation overheads of less than 1.5 minutes. Scientific programs requiring high-resolution follow-up characterization of several thousands of targets can thus be executed in mere weeks, and Robo-AO has already completed the three largest AO surveys to date.

  6. Revisiting HELLP syndrome.

    PubMed

    Dusse, Luci Maria; Alpoim, Patrícia Nessralla; Silva, Juliano Teixeira; Rios, Danyelle Romana Alves; Brandão, Augusto Henriques; Cabral, Antônio Carlos Vieira

    2015-12-07

    HELLP syndrome was first described in 1982 by Weinstein et al. and the term HELLP refers to an acronym used to describe the clinical condition that leads to hemolysis, elevated liver enzymes and low platelets. The syndrome frequency varies from 0.5 to 0.9% pregnancies and manifests preferentially between the 27th and 37th week of gestation. Approximately 30% of cases occur after delivery. Although the etiopathogenesis of this syndrome remains unclear, histopathologic findings in the liver include intravascular fibrin deposits that presumably may lead to hepatic sinusoidal obstruction, intrahepatic vascular congestion, and increased intrahepatic pressure with ensuing hepatic necrosis, intraparenchymal and subcapsular hemorrhage, and eventually capsular rupture. Typical clinical symptoms of HELLP syndrome are pain in the right upper quadrant abdomen or epigastric pain, nausea and vomiting. However, this syndrome can present nonspecific symptoms and the diagnosis may be difficult to be established. Laboratory tests and imaging exams are essential for differential diagnosis with other clinical conditions. Treatment of HELLP syndrome with corticosteroids, targeting both lung maturation of the fetus is still an uncertain clinical value. In conclusion, three decades after the tireless efforts of Dr. Weinstein to characterize HELLP syndrome, it remains a challenge to the scientific community and several questions need to be answered for the benefit of pregnant women.

  7. Vascular compression syndromes.

    PubMed

    Czihal, Michael; Banafsche, Ramin; Hoffmann, Ulrich; Koeppel, Thomas

    2015-11-01

    Dealing with vascular compression syndromes is one of the most challenging tasks in Vascular Medicine practice. This heterogeneous group of disorders is characterised by external compression of primarily healthy arteries and/or veins as well as accompanying nerval structures, carrying the risk of subsequent structural vessel wall and nerve damage. Vascular compression syndromes may severely impair health-related quality of life in affected individuals who are typically young and otherwise healthy. The diagnostic approach has not been standardised for any of the vascular compression syndromes. Moreover, some degree of positional external compression of blood vessels such as the subclavian and popliteal vessels or the celiac trunk can be found in a significant proportion of healthy individuals. This implies important difficulties in differentiating physiological from pathological findings of clinical examination and diagnostic imaging with provocative manoeuvres. The level of evidence on which treatment decisions regarding surgical decompression with or without revascularisation can be relied on is generally poor, mostly coming from retrospective single centre studies. Proper patient selection is critical in order to avoid overtreatment in patients without a clear association between vascular compression and clinical symptoms. With a focus on the thoracic outlet-syndrome, the median arcuate ligament syndrome and the popliteal entrapment syndrome, the present article gives a selective literature review on compression syndromes from an interdisciplinary vascular point of view.

  8. Dysmobility syndrome: current perspectives

    PubMed Central

    Hill, Keith D; Farrier, Kaela; Russell, Melissa; Burton, Elissa

    2017-01-01

    Background A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome. Method All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest), CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized. Results The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study). No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%–34% in three of the studies). Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality. Conclusion Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome. PMID:28144132

  9. Cannabinoid Hyperemesis Syndrome

    PubMed Central

    Galli, Jonathan A.; Sawaya, Ronald Andari; Friedenberg, Frank K.

    2013-01-01

    Coinciding with the increasing rates of cannabis abuse has been the recognition of a new clinical condition known as Cannabinoid Hyperemesis Syndrome. Cannabinoid Hyperemesis Syndrome is characterized by chronic cannabis use, cyclic episodes of nausea and vomiting, and frequent hot bathing. Cannabinoid Hyperemesis Syndrome occurs by an unknown mechanism. Despite the well-established anti-emetic properties of marijuana, there is increasing evidence of its paradoxical effects on the gastrointestinal tract and CNS. Tetrahydrocannabinol, cannabidiol, and cannabigerol are three cannabinoids found in the cannabis plant with opposing effects on the emesis response. The clinical course of Cannabinoid Hyperemesis Syndrome may be divided into three phases: prodromal, hyperemetic, and recovery phase. The hyperemetic phase usually ceases within 48 hours, and treatment involves supportive therapy with fluid resuscitation and anti-emetic medications. Patients often demonstrate the learned behavior of frequent hot bathing, which produces temporary cessation of nausea, vomiting, and abdominal pain. The broad differential diagnosis of nausea and vomiting often leads to delay in the diagnosis of Cannabinoid Hyperemesis Syndrome. Cyclic Vomiting Syndrome shares several similarities with CHS and the two conditions are often confused. Knowledge of the epidemiology, pathophysiology, and natural course of Cannabinoid Hyperemesis Syndrome is limited and requires further investigation. PMID:22150623

  10. UV-sensitive syndrome.

    PubMed

    Spivak, Graciela

    2005-09-04

    UV-sensitive syndrome (UV(S)S) is a human DNA repair-deficiency disorder with mild clinical manifestations. In contrast to other disorders with photosensitivity, no neurological or developmental abnormalities and no predisposition to cancer have been reported. The cellular and biochemical responses of UV(S)S and Cockayne syndrome (CS) cells to UV light are indistinguishable, and result from defective transcription-coupled repair of photoproducts in expressed genes [G. Spivak, T. Itoh, T. Matsunaga, O. Nikaido, P. Hanawalt, M. Yamaizumi, Ultra violet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers, DNA Repair, 1, 2002, 629-643]. The severe neurological and developmental deficiency characteristic of CS may arise from unresolved blockage of transcription at oxidative DNA lesions, which could result in excessive cell death and/or attenuated transcription. We have proposed that individuals with UV(S)S develop normally because they are proficient in repair of oxidative base damage or in transcriptional bypass of these lesions; consistent with this hypothesis, CS-B cells, but not UV(S)S cells, are deficient in host cell reactivation of plasmids containing oxidative base lesions [G. Spivak, P. Hanawalt, Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome, 2005, submitted for publication]. In this review, I will summarize the current understanding of the UV-sensitive syndrome and compare it with the Cockayne syndrome.

  11. Loin pain hematuria syndrome.

    PubMed

    Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans

    2014-09-01

    Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis.

  12. Rare case of nephrotic syndrome: Schimke syndrome.

    PubMed

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  13. Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

    PubMed

    Titomanlio, Luigi; Bennaceur, Selim; Bremond-Gignac, Dominique; Baumann, Clarisse; Dupuy, Olivier; Verloes, Alain

    2005-09-01

    We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, abnormal supra-umbilical abdominal wall, and mental deficiency. The phenotypic findings are compared with the six previously reported Michels cases, and with patients referred to as Carnevale, OSA, and Malpuech syndromes. Michels syndrome is characterized by cleft lip and palate, anterior chamber anomalies, blepharophimosis, epicanthus inversus, and craniosynostosis. Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, and lozenge-shaped diastasis around the umbilicus. OSA syndrome resembles Carnevale, with humeroradial synostoses, and spinal anomalies as extra features. Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive. Despite the presence of apparently distinctive key features, it appears that these four entities share multiple similarities in the facial Gestalt and the pattern of MCA. Those similarities lead us to postulate that they belong to the same spectrum, which could be referred to as "3MC syndrome" (Malpuech-Michels-Mingarelli-Carnevale syndrome).

  14. Iliopsoas Syndrome in Dancers

    PubMed Central

    Laible, Catherine; Swanson, David; Garofolo, Garret; Rose, Donald J.

    2013-01-01

    Background: Coxa saltans refers to a constellation of diagnoses that cause snapping of the hip and is a major cause of anterior hip pain in dancers. When the internal type is accompanied by weakness or pain, it is referred to as iliopsoas syndrome. Iliopsoas syndrome is the result of repetitive active hip flexion in abduction and can be confused with other hip pathology, most commonly of labral etiology. Purpose: To report the incidence, clinical findings, treatment protocol, and results of treatment for iliopsoas syndrome in a population of dancers. Study Design: Retrospective case series; Level of evidence, 4. Methods: A retrospective database review of 653 consecutive patients evaluated for musculoskeletal complaints over a 3-year period was completed. The diagnosis of iliopsoas syndrome was made based on anterior hip or groin pain, weakness with resisted hip flexion in abduction, or symptomatic clicking or snapping with a positive iliopsoas test. Patients identified with iliopsoas syndrome were further stratified according to age at time of onset, insidious versus acute onset, duration of symptoms, side of injury, presence of rest pain, pain with activities of daily living, and associated lower back pain. All patients diagnosed with iliopsoas syndrome underwent physical therapy, including hip flexor stretching and strengthening, pelvic mobilization, and modification of dance technique or exposure as required. Results: A total of 49 dancers were diagnosed and treated for iliopsoas syndrome. Within this injured population of 653 patients, the incidence in female dancers was 9.2%, significantly higher than that in male dancers (3.2%). The mean age at the time of injury was 24.6 years. The incidence of iliopsoas syndrome in dancers younger than 18 years was 12.8%, compared with 7% in dancers older than 18 years. Student dancers had the highest incidence (14%), followed by amateur dancers (7.5%), while professional dancers had the lowest incidence (4.6%). All

  15. Ischemic Bilateral Opercular Syndrome

    PubMed Central

    Milanlioglu, Aysel; Aydın, Mehmet Nuri; Gökgül, Alper; Hamamcı, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel

    2013-01-01

    Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome. PMID:23476665

  16. Hydrocephalus in pfeiffer syndrome.

    PubMed

    Moore, M H; Hanieh, A

    1994-07-01

    A review of the clinical records and CT scan findings of 11 patients with Pfeiffer syndrome showed ventricular dilation in the majority. In 7 cases the ventriculomegaly was sufficiently severe as to be classified as hydrocephalus and warrant ventricular shunting. The common co-existence of hydrocephalus and multiple premature sutural fusion in Pfeiffer syndrome is a further factor in the apparently worse prognosis of this condition when compared to Crouzon and Apert syndrome. Primary cerebral anomalies as a causative factor for the development of hydrocephalus are infrequently recorded. Extensive craniosynostosis with cranial base distortion and constriction would appear to contribute to the production of hydrocephalus.

  17. Mobious syndrome: MR findings

    PubMed Central

    Srinivas, Maskal Revanna; Vaishali, Dhulappa Mudabasappagol; Vedaraju, Kadaba Shamachar; Nagaraj, Bangalore Rangaswamy

    2016-01-01

    Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI) findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA) and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed. PMID:28104946

  18. Anton's Syndrome and Eugenics

    PubMed Central

    Frahm-Falkenberg, Siska

    2011-01-01

    Anton's syndrome is arguably the most striking form of anosognosia. Patients with this syndrome behave as if they can see despite their obvious blindness. Although best known for his description of asomatognosia and visual anosognosia, Gabriel Anton (1858-1933) made other significant contributions to the clinical neurosciences, including pioneering work in neurosurgery, neuropsychology, and child psychiatry. However, it has not been recognized in the English literature that Anton was also a dedicated advocate of eugenics and racial hygiene. This paper provides a case of Anton's syndrome and puts the works of Gabriel Anton into their historic context. PMID:21779298

  19. Ischemic bilateral opercular syndrome.

    PubMed

    Milanlioglu, Aysel; Aydın, Mehmet Nuri; Gökgül, Alper; Hamamcı, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel

    2013-01-01

    Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome.

  20. [Asperger's syndrome in females].

    PubMed

    Waris, Petra; Kulomäki, Tuula; Tani, Pekka

    2011-01-01

    Literature on Asperger's syndrome (AS) has mainly described symptoms that are manifested in boys. Only recently, attention has been paid on the features in AS girls that differ from the typical clinical picture and may complicate the detection of the syndrome. Because AS girls may react passively in general or compensate or hide their difficulties by other abilities, the need for support is not necessarily brought up. In that case this developmental disorder easily remains unrecognized. Recognition of the syndrome at an early stage makes early supportive actions possible.

  1. The Mirizzi syndrome.

    PubMed Central

    Pemberton, M.; Wells, A. D.

    1997-01-01

    The Mirizzi syndrome is an unusual presentation of gallstones which occurs when a gallstone becomes impacted in either Hartmann's pouch of the gallbladder or the cystic duct, causing obstruction of the common hepatic duct by extrinsic compression. The diagnosis of this syndrome is of importance because surgery in its presence is associated with an increased incidence of bile duct injury. The pathology, clinical presentation and management of this syndrome are discussed, and several illustrative case reports presented. Images Figure 2 Figure 3 PMID:9307740

  2. Cantu syndrome and lymphoedema.

    PubMed

    García-Cruz, Diana; Mampel, Alejandra; Echeverria, Maria I; Vargas, Ana L; Castañeda-Cisneros, Gema; Davalos-Rodriguez, Nory; Patiño-Garcia, Brenda; Garcia-Cruz, Maria O; Castañeda, Victor; Cardona, Ernesto G; Marin-Solis, Bertha; Cantu, Jose M; Nuñez-Reveles, Nelly; Moran-Moguel, Cristina; Thavanati, Pavarthi K R; Ramirez-Garcia, Sergio; Sanchez-Corona, Jose

    2011-01-01

    Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as observed in two of the patients described here, has been observed in 11.5% of patients with Cantu syndrome and that heterochromia iridis, observed in one patient, is probably a new feature of this condition.

  3. Iliotibial band friction syndrome

    PubMed Central

    2010-01-01

    Published articles on iliotibial band friction syndrome have been reviewed. These articles cover the epidemiology, etiology, anatomy, pathology, prevention, and treatment of the condition. This article describes (1) the various etiological models that have been proposed to explain iliotibial band friction syndrome; (2) some of the imaging methods, research studies, and clinical experiences that support or call into question these various models; (3) commonly proposed treatment methods for iliotibial band friction syndrome; and (4) the rationale behind these methods and the clinical outcome studies that support their efficacy. PMID:21063495

  4. Joint hypermobility syndrome.

    PubMed

    Fikree, Asma; Aziz, Qasim; Grahame, Rodney

    2013-05-01

    Although perceived as a rare condition, joint hypermobility syndrome is common. Its prevalence in rheumatology clinics is extremely high. Early estimates suggest that it may be the most common of all rheumatologic conditions. The problem lies in the general lack of awareness of the syndrome, its means of recognition, and the resultant failure to diagnose it correctly when present. It is a worldwide problem. This article provides an overview of hypermobility and hypermobility syndrome, stressing its multisystemic nature and the negative impact that it may have on quality of life, with particular reference to gastrointestinal involvement.

  5. Holmes-Adie Syndrome

    MedlinePlus

    ... the same time. People with HAS may also sweat excessively, sometimes only on one side of the ... size, loss of deep tendon reflexes, and excessive sweating – is usually called Ross’s syndrome, although some doctors ...

  6. Premenstrual Syndrome (PMS)

    MedlinePlus

    ... with the use of herbs, such as ginkgo, ginger, chasteberry, evening primrose oil and St. John's wort. ... Nov. 2, 2014. Khayat S. Effect of treatment with ginger on the severity of premenstrual syndrome symptoms. ISRN ...

  7. Distal arthrogryposis syndrome

    PubMed Central

    Kulkarni, K. P.; Panigrahi, I.; Ray, M.; Marwaha, R. K.

    2008-01-01

    A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA) syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome. PMID:20300297

  8. 4H Syndrome

    MedlinePlus

    ... syndrome appears normal. Symptoms usually start during the second year of life, but patients with normal early childhood and symptoms only from the second decade have been described. Neurological symptoms include: Late ...

  9. Cyclic Vomiting Syndrome

    MedlinePlus

    ... 2013. Slutsker B, et al. Breaking the cycle: Cognitive behavioral therapy and biofeedback training in a case of cyclic vomiting syndrome. Psychology, Health & Medicine. 2010;15:625. Boles RG. High ...

  10. Guillain-Barre Syndrome

    MedlinePlus

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system ( ... over a period of weeks and then stabilize. Guillain-Barre can be hard to diagnose. Possible tests include ...

  11. Short bowel syndrome

    MedlinePlus

    Small intestine insufficiency; Short gut syndrome; Necrotizing enterocolitis - short bowel ... The small intestine absorbs much of the nutrients found in foods we eat. When one half or more of our small ...

  12. Multiple Endocrine Neoplasia Syndromes

    MedlinePlus

    ... Endocrine Neoplasia Syndromes By Patricia A. Daly, MD, University of Virginia;Front Royal Internal Medicine, VA ; Lewis Landsberg, MD, Northwestern University NOTE: This is the Consumer Version. DOCTORS: Click ...

  13. Fetal Alcohol Syndrome

    MedlinePlus

    ... The diagnosis of fetal alcohol syndrome. Deutsches Arztebaltt International. 2013;110:703. Ungerer M, et al. In utero alcohol exposure, epigenetic changes and their consequences. Alcohol Research: Current Reviews. 2013;35:37. Coriale G, et al. ...

  14. Shaken Baby Syndrome.

    ERIC Educational Resources Information Center

    Alexander, Randell C.; Smith, Wilbur L.

    1998-01-01

    Discusses the history, epidemiology, biomechanics, diagnosis, treatment, outcomes, long-term management, and prevention of shaken baby syndrome. It presents medical-legal issues as well as a discussion of programs aimed at prevention of physical abuse. (Author/DB)

  15. Marfan Syndrome (For Parents)

    MedlinePlus

    ... Safety Doctors & Hospitals Q&A Recipes En Español Teachers - Looking for Health Lessons? Visit KidsHealth in the ... other talents and interests. Keep in touch with teachers and explain that even though Marfan syndrome doesn' ...

  16. Irritable Bowel Syndrome

    MedlinePlus

    Irritable bowel syndrome (IBS) is a problem that affects the large intestine. It can cause abdominal cramping, bloating, and a change in bowel ... go back and forth between the two. Although IBS can cause a great deal of discomfort, it ...

  17. Acute coronary syndrome

    MedlinePlus

    ... syndromes: a report of the American College of Cardiology/ American Heart Association Task Force on Practice Guidelines. ... risk: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. ...

  18. Gorlin-Goltz syndrome.

    PubMed

    Joshi, Priya Shirish; Deshmukh, Vijay; Golgire, Someshwar

    2012-01-01

    Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases.

  19. Overview of Barth Syndrome

    MedlinePlus

    ... tests, or treatments that we may report. This website is for informational purposes, always check with your physician before adopting any medical treatment. © Barth Syndrome Foundation. All rights reserved. Web Design by Pixelera

  20. Pierre Robin syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/001607.htm Pierre Robin sequence To use the sharing features on this page, please enable JavaScript. Pierre Robin sequence (or syndrome) is a condition in which ...

  1. Identifying Aarskog Syndrome

    PubMed Central

    Mufeed, Abdullah; Ramachamparambathu, Ashir Kolikkal; Hasoon, Umer

    2016-01-01

    Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. This is a case report of a 15-year-old male patient who visited our college complaining of poor facial aesthetics. History revealed consanguinity and his sibling to be suffering from the same. A diagnosis of Aarskog syndrome was made based upon the detailed patient history, thorough clinical evaluation and identification of characteristic findings in radiographs. Professional counselling explained him the nature of his condition and treatment options to correct dental anomalies and congenital malformations were advised. PMID:28209013

  2. Metabolic Syndrome (For Parents)

    MedlinePlus

    ... of high blood pressure, heart attack, or stroke. Insulin resistance . This occurs when the body's cells don't ... Polycystic ovarian syndrome. Thought to be related to insulin resistance, this disorder involves the release of extra male ...

  3. Catastrophic Antiphospholipid Syndrome

    PubMed Central

    El-Abedin, Zein; Abdel Aziz, Rashad; Talat, Ibrahim; Saleh, Mohammed; Abdel-Samia, Hanna; Sameh, Amro; Sharha, Mahmoud

    2016-01-01

    This paper reports one case of successfully treated patients suffering from a rare entity, the catastrophic antiphospholipid syndrome (CAPS). Management of this patient is discussed in detail. PMID:27375916

  4. Complex Regional Pain Syndrome

    MedlinePlus

    Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. ... in skin temperature, color, or texture Intense burning pain Extreme skin sensitivity Swelling and stiffness in affected ...

  5. Dandy-Walker Syndrome

    MedlinePlus

    ... eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, abnormal breathing problems, and problems with the nerves that control the eyes, face and neck. Dandy-Walker Syndrome is sometimes associated with disorders ...

  6. Melkersson-Rosenthal Syndrome

    MedlinePlus

    ... It can be symptomatic of Crohn's disease or sarcoidosis. × Definition Melkersson-Rosenthal syndrome is a rare neurological ... It can be symptomatic of Crohn's disease or sarcoidosis. View Full Definition Treatment Treatment is symptomatic and ...

  7. Loeys-Dietz Syndrome

    MedlinePlus

    ... syndrome is a genetic disorder of the body’s connective tissue. It has some features in common with Marfan ... a mutation, growth and development of the body’s connective tissue and other body systems is disrupted, leading to ...

  8. Learning about Marfan Syndrome

    MedlinePlus

    ... one of the most common inherited disorders of connective tissue. It is an autosomal dominant condition occurring once ... with the most notable occurring in eye, skeleton, connective tissue and cardiovascular systems. Marfan syndrome is caused by ...

  9. Marfan Syndrome (For Teens)

    MedlinePlus

    ... in 1896. Marfan syndrome affects the body's connective tissue. Connective tissue is found everywhere in the body. Think ... special type of protein that's found in connective tissue. Weakened connective tissue can lead to problems in many parts ...

  10. Impingement syndrome (image)

    MedlinePlus

    ... arch of the shoulder blade, it can cause shoulder pain called impingement syndrome. The tendons become compressed, damaged, and inflamed leading to rotator cuff tendonitis. This can occur ... use of the shoulder like baseball pitching, or from an injury.

  11. Locked-In Syndrome

    MedlinePlus

    ... of the body except for those that control eye movement. It may result from traumatic brain injury, diseases ... and paralyzed. Communication may be possible with blinking eye movements × Definition Locked-in syndrome is a rare neurological ...

  12. Post-Polio Syndrome

    MedlinePlus

    ... first episode of polio. Currently, the most accepted theory regarding the cause of post-polio syndrome rests ... conserve your energy. Moving from one frame of mind to another can be difficult. Here are some ...

  13. Complex Regional Pain Syndrome

    MedlinePlus

    ... regional pain syndrome is an uncommon form of chronic pain that usually affects an arm or a leg. ... exercises may be. Transcutaneous electrical nerve stimulation (TENS) . Chronic pain is sometimes eased by applying electrical impulses to ...

  14. Lesch-Nyhan syndrome

    MedlinePlus

    ... motor development followed by abnormal movements and increased reflexes. A striking feature of Lesch-Nyhan syndrome is ... a physical exam. The exam may show: Increased reflexes Spasticity (having spasms) Blood and urine tests may ...

  15. Acute Coronary Syndrome

    MedlinePlus

    ... angina? This content was last reviewed July 2015. Heart Attack • Home • About Heart Attacks Acute Coronary Syndrome (ACS) ... Recovery FAQs • Heart Attack Tools & Resources • Support Network Heart Attack Tools & Resources What Is a Heart Attack? How ...

  16. Turner Syndrome: Other FAQs

    MedlinePlus

    ... can cause certain learning challenges, including problems learning mathematics and with memory. 7 Most girls and women ... syndrome usually require care from a variety of specialists throughout their lives. Will she be able to ...

  17. Androgen insensitivity syndrome.

    PubMed

    Hughes, Ieuan A; Davies, John D; Bunch, Trevor I; Pasterski, Vickie; Mastroyannopoulou, Kiki; MacDougall, Jane

    2012-10-20

    Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens. Pathogenesis is the result of mutations in the X-linked androgen receptor gene, which encodes for the ligand-activated androgen receptor--a transcription factor and member of the nuclear receptor superfamily. This Seminar describes the clinical manifestations of androgen insensitivity syndrome from infancy to adulthood, reviews the mechanism of androgen action, and shows examples of how mutations of the androgen receptor gene cause the syndrome. Management of androgen insensitivity syndrome should be undertaken by a multidisciplinary team and include gonadectomy to avoid gonad tumours in later life, appropriate sex-hormone replacement at puberty and beyond, and an emphasis on openness in disclosure.

  18. Klinefelter Syndrome (For Teens)

    MedlinePlus

    ... and guys' bodies begin to make sex hormones, boys with Klinefelter usually don't produce as much ... growth, and growth of body hair and muscles. Boys with Klinefelter syndrome may also have problems with ...

  19. What Causes Rett Syndrome?

    MedlinePlus

    ... 8 Why do mostly females and so few boys have Rett syndrome? Two types of chromosomes determine ... Y chromosomes. Girls have two X chromosomes, and boys have one X and one Y chromosome. Because ...

  20. Sick Sinus Syndrome

    MedlinePlus

    ... occurs in bradycardia-tachycardia syndrome is often atrial fibrillation. Atrial fibrillation is a chaotic rhythm of the upper chambers ... to prevent fast rhythms. If you have atrial fibrillation or other abnormal heart rhythms that increase your ...

  1. Polycystic Ovary Syndrome (PCOS)

    MedlinePlus

    ... breathing during sleep Insulin resistance Metabolic syndrome, a group of risk factors for heart disease and type 2 diabetes Type 2 diabetes Obesity Heart disease and high blood pressure (cardiovascular disease) Mood disorders Endometrial hyperplasia and endometrial ...

  2. Congenital nephrotic syndrome

    MedlinePlus

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  3. Blueberries and Metabolic Syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Metabolic Syndrome is a cluster of metabolic disorders that increase the risk of cardiovascular diseases. Type 2 diabetes, elevated blood pressure, and atherogenic dyslipidemia are among the metabolic alterations that predispose the individual to several adverse cardiovascular complications. The hea...

  4. Brown-Sequard Syndrome

    MedlinePlus

    ... vessel), or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. × Definition Brown-Sequard syndrome (BSS) ... vessel), or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. View Full Definition Treatment Generally ...

  5. Dumping syndrome (image)

    MedlinePlus

    Dumping syndrome occurs when the contents of the stomach empty too quickly into the small intestine. The ... causing nausea, cramping, diarrhea, sweating, faintness, and palpitations. Dumping usually occurs after the consumption of too much ...

  6. International Rett Syndrome Foundation

    MedlinePlus

    ... your state! State Resources Rettsyndrome.org is the world's leading Rett syndrome research funding organization We have ... toward treatments for millions of people around the world with Autism, Parkinson's, Alzheimers, Schizophrenia and Traumatic Brain ...

  7. Ectopic Cushing syndrome

    MedlinePlus

    ... Cushing syndrome have: Round, red, and full face ( moon face ) Slow growth rate in children Weight gain ... constitute endorsements of those other sites. Copyright 1997-2017, A.D.A.M., Inc. Duplication for commercial ...

  8. Metabolic Syndrome (For Parents)

    MedlinePlus

    ... be given medication to decrease insulin resistance. While bariatric surgery for weight loss is not yet approved by ... Can Diabetes Be Prevented? Diabetes Center Metabolic Syndrome Weight Loss Surgery When Being Overweight Is a Health Problem Acanthosis ...

  9. Carpal Tunnel Syndrome

    MedlinePlus

    ... Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and bones ... from irritated tendons or other swelling narrows the tunnel and causes the nerve to be compressed. Symptoms ...

  10. Chronic Fatigue Syndrome

    MedlinePlus

    Chronic fatigue syndrome (CFS) is a disorder that causes extreme fatigue. This fatigue is not the kind of tired feeling that ... activities. The main symptom of CFS is severe fatigue that lasts for 6 months or more. You ...

  11. Hemiparkinsonism-hemiatrophy syndrome.

    PubMed

    Ayromlou, Hormoz; Najmi, Safa; Arami, Mohammad Ali

    2011-03-01

    The syndrome of hemiparkinsonism-hemiatrophy is an uncommon form of secondary Parkinsonism that presents with unilateral body Parkinsonism plus variable atrophy on the same side. Diagnosis of this syndrome needs a complete past medical history taking, as well as assessment of the familial history, clinical examination and complete paraclinical tests.The response to medical therapy has been variable in various researches. This case showed a good response to the addition of a dopamine agonist to levodopa therapy.

  12. Syndrome in question*

    PubMed Central

    Dalapicola, Monique Coelho; Veasey, John Verrinder; Lellis, Rute Facchini

    2016-01-01

    Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years. PMID:26982793

  13. Pellegrini-Stieda syndrome.

    PubMed

    Wang, J C; Shapiro, M S

    1995-06-01

    The Pellegrini-Stieda "sign" is commonly seen in patients who have a history of trauma to the medial collateral ligament of the knee. Although most are asymptomatic, a few patients will develop the characteristic Pellegrini-Stieda syndrome, which can be severely limiting. When conservative measures fail, surgical treatment consisting of excision of the bony fragment with careful repair of the medial collateral ligament can eradicate the symptoms. This syndrome is reviewed in detail, and an illustrative case report is included.

  14. [Reiter's syndrome oral manifestations].

    PubMed

    Fotiou, G; Laskaris, G

    1988-01-01

    Reiter's syndrome is characterized by arthritis, non-gonococcal urethritis, conjunctivitis and mucocutaneous lesions. Oral lesions occur in 20-40% of the cases. They appear as papules and ulcerations on the buccal mucosa, gingiva and lips. Lesions on the tongue resemple "geographic tongue". One case of Reiter's syndrome is described. The significance of the clinical lesions, their microscopic appearance and the differential diagnosis are discussed.

  15. Multiple pterygium syndrome.

    PubMed Central

    Penchaszadeh, V B; Salszberg, B

    1981-01-01

    The multiple pterygium syndrome is a rare autosomal recessive condition characterised by arthrogryposis multiplex congenita, pterygia of the neck, fingers, and antecubital, popliteal, and intercrural areas, growth retardation, and facial, vertebral, and genital anomalies. We present two unrelated patients of 17 and 6 years of age, respectively, affected with this condition. We describe the natural history of their disorder since birth and review the spectrum of phenotypic variation of the multiple pterygium syndrome in 25 published cases. Images PMID:7334504

  16. [Thyroid hormone resistance syndromes].

    PubMed

    Bernal, Juan

    2011-04-01

    Thyroid hormone resistance syndromes are a group of genetic conditions characterized by decreased tissue sensitivity to thyroid hormones. Three syndromes, in which resistance to hormone action is respectively due to mutations in the gene encoding for thyroid hormone receptor TRβ, impaired T4 and T3 transport, and impaired conversion of T4 to T3 mediated by deiodinases. An updated review of each of these forms of resistance is provided, and their pathogenetic mechanisms and clinical approaches are discussed.

  17. DHAT SYNDROME REVISITED

    PubMed Central

    Singh, Gurmeet

    1985-01-01

    SUMMARY Fifty consequetive patients of male potency disorders were examined and classified as Dhat Syndrome, Impotence or Premature ejaculation depending on definition laid down for these. Dhat syndrome has been found predominantly in young adults. Thirty one patients (62%) complained of Dhat as a major symptom. Associated diagnosis was depression (48%) and anxiety neurosis (16%). No psychiatric disorder was noticed in 16 (32%) cases. The socio-demographic relationships are given and difficulty in handling such patients has been discussed. PMID:21927085

  18. Unmasking Diogenes Syndrome

    PubMed Central

    Nayak, Kashinath; Gopinath, Hima; Kini, Hema; Kumar, Pramod

    2015-01-01

    Diogenes syndrome is characterized by extreme self-neglect, social withdrawal, and poor personal and domestic hygiene. We report a case of Diogenes syndrome presenting with dermatitis passivata. An unusual “mask” of dirt resembling a carapace, onset of neglect after awareness of a breast lump and resumption of personal grooming and social activities after removal of the lump and counseling were seen. PMID:26120158

  19. Burning mouth syndrome.

    PubMed

    Thoppay, Jaisri R; De Rossi, Scott S; Ciarrocca, Katharine N

    2013-07-01

    Burning mouth syndrome (BMS) is a chronic condition that is characterized by burning symptoms of the oral mucosa without obvious clinical examination findings. This syndrome has complex characteristics, but its cause remains largely enigmatic, making treatment and management of patients with BMS difficult. Despite not being accompanied by evident organic changes, BMS can significantly reduce the quality of life for such patients. Therefore, it is incumbent on dental professionals to diagnose and manage patients with BMS as a part of comprehensive care.

  20. The HELLP syndrome.

    PubMed

    Kirkpatrick, C A

    2010-01-01

    The HELLP syndrome is a serious complication in pregnancy characterized by haemolysis, elevated liver enzymes and low platelet count occurring in 0.5 to 0.9% of all pregnancies and in 10- 20% of cases with severe preeclampsia. The present review highlights occurrence, diagnosis, complications, surveillance, treatment, mode of delivery and risk of recurrence. Clinical reviews published between 2000 and 2009 were screened using PubMed and Cochrane databases. About 70% of cases develop before delivery, the majority in the third trimester of pregnancy; the remainder within 48 hours after delivery. The HELLP syndrome may be complete or incomplete. The syndrome is a progressive condition and serious complications are frequent. Conservative treatment (48 hours) is controversial. Delivery is indicated if the HELLP syndrome occurs after the 34th week or the foetal and/or maternal conditions deteriorate. Vaginal delivery is preferable. In gestational ages between 24 and 34 weeks, a single course of corticosteroid for foetal lung maturation is recommended. Standard corticosteroid treatment is, owever, of uncertain clinical value in the maternal HELLP syndrome. Close surveillance of the mother should be continued for at least 48 hours after delivery.The recognition of HELLP syndrome and an aggressive multidisciplinary approach and prompt transfer of these women to obstetric centres with expertise in this field are required for the improvement of materno-foetal prognosis.

  1. [Catastrophic antiphospholipid syndrome].

    PubMed

    Wisłowska, Małgorzata

    2015-01-01

    Catastrophic antiphospholipid syndrome is the most dangerous form of the antiphospholipid syndrome, which is characterized by rapid onset of thrombosis in small vessels of many organs and intravascular coagulation, thrombocytopenia and hemolytic anemia. The syndrome develops over a short period of time with acute multi-organ failure, including kidney, respiratory, cardiovascular, central nervous system and adrenal glands, often associated with disseminated thrombotic microangiopathy. The catastrophic antiphospholipid syndrome involves three or more systems, organs and/or tissues, the development of symptoms must occur within less than one week, it is necessary to confirm the histopathological vascular occlusion in at least one organ or tissue, and laboratory confirmation of the presence of antiphospholipid antibodies in the serum on two occasions over an interval of 12 weeks. This syndrome is characterized by a high mortality despite the use of optimal treatment. Early diagnosis and aggressive treatment of patients with catastrophic antiphospholipid syndrome is essential to save the life of these patients. In the last 10 years, the mortality in this disease decreased from 50% to 30% with simultaneous treatment with anticoagulants, corticosteroids, plasmapheresis and immunoglobulins.

  2. Snow-(N)AO relationship revisited over the whole twentieth century

    NASA Astrophysics Data System (ADS)

    Douville, H.; Peings, Y.; Saint-Martin, D.

    2017-01-01

    Several studies suggest that the Siberian snow cover in fall is a source of predictability of the Arctic Oscillation (AO) in winter. Although a plausible dynamical mechanism was proposed, the robustness of this relationship was recently challenged. Here we use two atmospheric reanalyses to revisit the snow-AO relationship and its modulation across the whole twentieth century. While our results support a stratospheric pathway mechanism, they show that the snow-AO relationship has only emerged in the 1970s and should be rather analyzed as a contrasted multidecadal behavior of the North Atlantic Oscillation (NAO) and Pacific North America pattern. They confirm that the quasi-biennial oscillation is a plausible candidate for the modulation of the snow-(N)AO relationship across the twentieth century, but they further show that this modulation might be a purely stochastic effect. Therefore, they emphasize the limitations of any empirical prediction of the (N)AO only based on snow and/or sea ice predictors.

  3. Genetics Home Reference: renal coloboma syndrome

    MedlinePlus

    ... Understand Genetics Home Health Conditions renal coloboma syndrome renal coloboma syndrome Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description Renal coloboma syndrome (also known as papillorenal syndrome) is ...

  4. Learning about Cri du Chat Syndrome

    MedlinePlus

    ... chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that ... du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial ...

  5. [Caplan's syndrome: rarely presenting as syndrome].

    PubMed

    Nowak, Albina; Göhner, Katja; Cohen, Clemens D

    2014-02-26

    Ein 59-jähriger Spezialtiefbauarbeiter, ehemaliger Uranbergbauarbeiter, präsentierte sich mit Hämoptoe und asymmetrischen Arthritiden. Labortests ergaben Mikrohämaturie und anti-neutrophile zytoplasmatische Antikörper. Computertomographisch bestanden bilateral disseminierte Thorax-Rundherde. Thorakoskopische Lungenkeilresektion zeigte Granulome mit Anthrakose und Silikose-Material im nekrotischen Zentrum. Die Diagnose eines Caplan-Syndroms wurde gestellt. Die Beschwerden besserten sich unter der Steroid-Therapie. Weitere Abklärung der Mikrohämaturie erbrachte die Diagnose eines klarzelligen Nierenzellkarzinoms. Bei diesem Patienten mit «pulmorenalem Syndrom» war das Nierenzellkarzinom, das bei Minenarbeitern im Uranbergbau ebenfalls vermehrt auftritt, ursächlich für die Mikrohämaturie.

  6. Acute radiation syndrome and chronic radiation syndrome.

    PubMed

    Grammaticos, Philip; Giannoula, Evanthia; Fountos, George P

    2013-01-01

    Acute radiation syndrome (ARS) or sickness or poisoning or toxicity is induced after a whole body exposure of men to high doses of radiation between 1-12Gy. First symptoms are from the gastrointestinal system, which together with bone marrow are the most sensitive parts of our body. Chronic radiation syndrome (CRS) may be induced by smaller than 1Gy radiation doses or after a mild form of ARS. Prophylaxis and treatment suggestions are described. In cases of ARS, a large part of the exposed population after proper medical care may survive, while without medical care this part of the population will be lost. Prophylaxis may also save another part of the population.

  7. Abdominal vascular syndromes: characteristic imaging findings.

    PubMed

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe

    2016-01-01

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital-including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)-or compressive-including "nutcracker" syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic.

  8. Autoimmune Basis for Postural Tachycardia Syndrome

    ClinicalTrials.gov

    2016-10-14

    Postural Orthostatic Tachycardia Syndrome; Postural Tachycardia Syndrome; Tachycardia; Arrhythmias, Cardiac; Autonomic Nervous System Diseases; Orthostatic Intolerance; Cardiovascular Diseases; Primary Dysautonomias

  9. Marfan syndrome: An eyesight of syndrome.

    PubMed

    Kumar, Ashok; Agarwal, Sarita

    2014-12-01

    Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1). Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of MFS. The revised Ghent diagnostics nosology of Marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. The pathogenesis of Marfan syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. The treatment includes prophylactic β-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta and prophylactic aortic surgery. Importantly, β-blocker therapy may reduce TGF-β activation, which has been recognized as a contributory factor in MFS. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening. The present article aims to provide an overview of this rare hereditary disorder.

  10. SAXO, the SPHERE extreme AO system: on-sky final performance and future improvements

    NASA Astrophysics Data System (ADS)

    Fusco, T.; Sauvage, J.-F.; Mouillet, D.; Costille, A.; Petit, C.; Beuzit, J.-L.; Dohlen, K.; Milli, J.; Girard, J.; Kasper, M.; Vigan, A.; Suarez, M.; Soenke, C.; Downing, M.; N'Diaye, M.; Baudoz, P.; Sevin, A.; Baruffolo, A.; Schmid, H.-M.; Salasnich, B.; Hugot, E.; Hubin, N.

    2016-07-01

    The SPHERE (Spectro-Polarimetric High-contrast Exoplanet Research) instrument aims at detecting extremely faint sources (giant extrasolar planets) in the vicinity of bright stars1. Such a challenging goal requires the use of a very-high-order performance Adaptive Optics [AO] system feeding the scientific instruments with a quasi-perfect flat wave front corrected from all the atmospheric turbulence and internal defects. This AO system, called SAXO (Sphere Ao for eXoplanet Observation) is the heart of the instrument, a heart beating 1200 time per second and providing unprecedented image quality for a large ground based telescope at optical/near infrared wavelength. We will present the latest results obtained on-sky, demonstrating its exceptional performance (in terms of correction quality, stability and robustness) and tremendous potentiality for high contrast imaging and more specifically for exoplanet discovery.

  11. Deep-water sponges (Porifera) from Bonaire and Klein Curaçao, Southern Caribbean.

    PubMed

    Van Soest, Rob W M; Meesters, Erik H W G; Becking, Leontine E

    2014-10-29

    Four submersible dives off the coast of Bonaire (Caribbean Netherlands) and Klein Curaçao (Curaçao) to depths of 99.5-242 m, covering lower mesophotic and upper dysphotic zones, yielded 52 sponge specimens belonging to 31 species. Among these we identified 13 species as new to science. These are Plakinastrella stinapa n. sp., Pachastrella pacoi n. sp., Characella pachastrelloides n. sp., Geodia curacaoensis n. sp., Caminus carmabi n. sp., Discodermia adhaerens n. sp., Clathria (Microciona) acarnoides n. sp., Antho (Acarnia) pellita n. sp., Parahigginsia strongylifera n. sp., Calyx magnoculata n. sp., Neopetrosia dutchi n. sp., Neopetrosia ovata n. sp. and Neopetrosia eurystomata n. sp. We also report an euretid hexactinellid, which belongs to the rare genus Verrucocoeloidea, recently described (2014) as V. liberatorii Reiswig & Dohrmann. The remaining 18 already known species are all illustrated by photos of the habit, either in situ or 'on deck', but only briefly characterized in an annotated table to confirm their occurrence in the Southern Caribbean. The habitat investigated-steep limestone rocks, likely representing Pleistocene fossil reefs--is similar to deep-water fossil reefs at Barbados of which the sponges were sampled and studied by Van Soest and Stentoft (1988). A comparison is made between the two localities, showing a high degree of similarity in sponge composition: 53% of the present Bonaire-Klein Curaçao species were also retrieved at Barbados. At the level of higher taxa (genera, families) Bonaire-Klein Curaçao shared approximately 80% of its lower mesophotic and upper dysphotic sponge fauna with Barbados, despite a distance between them of 1000 km, indicating high faunal homogeneity. We also preliminarily compared the shallow-water (euphotic) sponge fauna of Curaçao with the combined data available for the Barbados, Bonaire and Klein Curaçao mesophotic and upper dysphotic sponges, which resulted in the conclusion that the two faunas show only

  12. Novel algorithm implementations in DARC: the Durham AO real-time controller

    NASA Astrophysics Data System (ADS)

    Basden, Alastair; Bitenc, Urban; Jenkins, David

    2016-07-01

    The Durham AO Real-time Controller has been used on-sky with the CANARY AO demonstrator instrument since 2010, and is also used to provide control for several AO test-benches, including DRAGON. Over this period, many new real-time algorithms have been developed, implemented and demonstrated, leading to performance improvements for CANARY. Additionally, the computational performance of this real-time system has continued to improve. Here, we provide details about recent updates and changes made to DARC, and the relevance of these updates, including new algorithms, to forthcoming AO systems. We present the computational performance of DARC when used on different hardware platforms, including hardware accelerators, and determine the relevance and potential for ELT scale systems. Recent updates to DARC have included algorithms to handle elongated laser guide star images, including correlation wavefront sensing, with options to automatically update references during AO loop operation. Additionally, sub-aperture masking options have been developed to increase signal to noise ratio when operating with non-symmetrical wavefront sensor images. The development of end-user tools has progressed with new options for configuration and control of the system. New wavefront sensor camera models and DM models have been integrated with the system, increasing the number of possible hardware configurations available, and a fully open-source AO system is now a reality, including drivers necessary for commercial cameras and DMs. The computational performance of DARC makes it suitable for ELT scale systems when implemented on suitable hardware. We present tests made on different hardware platforms, along with the strategies taken to optimise DARC for these systems.

  13. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    PubMed Central

    Lo Muzio, Lorenzo

    2008-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic

  14. Nevoid basal cell carcinoma syndrome (Gorlin syndrome).

    PubMed

    Lo Muzio, Lorenzo

    2008-11-25

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5-10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic

  15. One of the Rarest Syndromes in Dentistry: Gardner Syndrome

    PubMed Central

    Basaran, Guvenc; Erkan, Mustafa

    2008-01-01

    Gardner syndrome is a rare, autosomal dominant syndrome. It will follow a positive course with diagnosis and treatment by medical and dental specialists. Orthodontists or general dental physicians can easily diagnose the syndrome through radiological images taken in addition to dental and skeletal findings. The aim of this study was therefore to report two cases of this syndrome and to evaluate it from an orthodontic perspective in order to attract the attention of orthodontists to this rare anomaly. PMID:19212549

  16. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes.

    PubMed

    Kobrynski, Lisa J; Sullivan, Kathleen E

    2007-10-20

    Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in common a high frequency of hemizygous deletions of chromosome 22q11.2. This deletion syndrome is very common, affecting nearly one in 3000 children. Here, we focus on recent advances in cardiac assessment, speech, immunology, and pathophysiology of velocardiofacial syndrome. The complex medical care of patients needs a multidisciplinary approach, and every patient has his own unique clinical features that need a tailored approach. Patients with chromosome 22q11.2 deletion syndrome might have high level of functioning, but most often need interventions to improve the function of many organ systems.

  17. Pre-Menstrual Syndrome in Women with Down Syndrome

    ERIC Educational Resources Information Center

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  18. What Are the Key Statistics about Myelodysplastic Syndromes?

    MedlinePlus

    ... Myelodysplastic Syndromes What Are the Key Statistics About Myelodysplastic Syndromes? In the United States, myelodysplastic syndromes (MDS) occur ... in Myelodysplastic Syndrome Research and Treatment? More ... Syndromes About Myelodysplastic Syndromes Causes, Risk Factors, and Prevention ...

  19. Genetics Home Reference: Barth syndrome

    MedlinePlus

    ... becomes increasingly weakened and is less able to pump blood. Individuals with Barth syndrome may have elastic ... of the muscle and impairs its ability to pump blood. In people with Barth syndrome , the heart ...

  20. Genetics Home Reference: Frasier syndrome

    MedlinePlus

    ... Kidney/Urological Conditions University of Kansas Resource List: Sexuality and Sexual Differentiation Syndromes ClinicalTrials.gov (1 link) ... H, Tabata N, Okada M, Takemura T. A female infant with Frasier syndrome showing splice site mutation ...

  1. Genetics Home Reference: Sotos syndrome

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Sotos syndrome Sotos syndrome Enable ...

  2. Genetics Home Reference: Brugada syndrome

    MedlinePlus

    ... Brugada syndrome. Methodist Debakey Cardiovasc J. 2014 Jan-Mar;10(1):25-8. Review. Citation on PubMed ... ER. Brugada syndrome: an update. Future Cardiol. 2013 Mar;9(2):253-71. doi: 10.2217/fca. ...

  3. HALLGREN'S SYNDROME: TWO CASE REPORTS

    PubMed Central

    Chaudhury, S.; Gurunadh, V.S.; Singh, G.P.; Sundari, G.S.

    1994-01-01

    Two cases of Hallgren's syndrome presenting with retinitis pigmentosa, sensory-neural hearing loss along with schizophrenia in one patient and major depression in the other, are reported along with a brief description of this rare syndrome. PMID:21743702

  4. Genetics Home Reference: ADNP syndrome

    MedlinePlus

    ... 1 link) Genetic Testing Registry: Helsmoortel-van der aa syndrome Other Diagnosis and Management Resources (1 link) ... intellectual disability-autism spectrum disorder Helsmoortel-van der Aa syndrome HVDAS mental retardation, autosomal dominant 28 MRD28 ...

  5. Genetics Home Reference: Feingold syndrome

    MedlinePlus

    ... Brunner HG. Feingold syndrome: clinical review and genetic mapping. Am J Med Genet A. 2003 Nov 1; ... Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat ...

  6. Syndromic Disorders with Short Stature

    PubMed Central

    Şıklar, Zeynep; Berberoğlu, Merih

    2014-01-01

    Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively. PMID:24637303

  7. Carpal Tunnel Syndrome (For Kids)

    MedlinePlus

    ... Dictionary of Medical Words En Español What Other Kids Are Reading Taking Care of Your Ears Taking ... an X-ray Carpal Tunnel Syndrome KidsHealth > For Kids > Carpal Tunnel Syndrome Print A A A What's ...

  8. Genetics Home Reference: Ochoa syndrome

    MedlinePlus

    ... 1 link) Genetic Testing Registry: Ochoa syndrome Other Diagnosis and Management Resources (4 links) GeneReview: Urofacial Syndrome National Institute of Diabetes and Digestive and Kidney Diseases: Urodynamic Testing Scripps Health: Self-Catheterization -- Female Scripps ...

  9. Genetics Home Reference: Cowden syndrome

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Cowden syndrome Cowden syndrome Enable ...

  10. Genetics Home Reference: Lynch syndrome

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Lynch syndrome Lynch syndrome Enable ...

  11. Genetics Home Reference: Blau syndrome

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Blau syndrome Blau syndrome Enable ...

  12. A family with Alport's syndrome

    PubMed Central

    Jain, P.

    1970-01-01

    Alport's syndrome has been diagnosed in members of four successive generations of one family. Renal biopsy was performed in two of these patients. The syndrome is briefly reviewed. ImagesFig. 2 PMID:5416510

  13. Learning about Antiphospholipid Syndrome (APS)

    MedlinePlus

    ... and links from the National Institutes of Health. Learning About Antiphospholipid Syndrome (APS) What is antiphospholipid syndrome ( ... with APS include : Systemic Vascular Thrombosis While the deep veins of the legs are the most frequent ...

  14. Chronic Fatigue Syndrome (CFS): Symptoms

    MedlinePlus

    ... please visit this page: About CDC.gov . Chronic Fatigue Syndrome (CFS) Share Compartir Symptoms On this Page ... Symptoms What's the Clinical Course of CFS? Chronic fatigue syndrome can be misdiagnosed or overlooked because its ...

  15. Rise of the Machines: Automated Laser Guide Star Adaptive Optics Observations of Thousands of Objects with Robo-AO

    NASA Astrophysics Data System (ADS)

    Riddle, Reed L.; Baranec, C.; Law, N. M.; Tendulkar, S. P.; Ramaprakash, A. N.; Kulkarni, S. R.; Dekany, R.; Bui, K.; Burse, M.; Das, H.; Punnadi, S.; Chordia, P.

    2013-01-01

    Robo-AO is the first fully automated laser guide star adaptive optics instrument. Robo-AO has completed thousands of automated AO observations at the visible diffraction limit for several scientific programs during its first semester of science observations. These programs include: the Ultimate Binarity Survey to examine stellar binarity properties across the main sequence and beyond; a survey of 1,000 Kepler objects of interest; the multiplicity of solar type stars; and several programs for high precision astrometric observations. A new infrared camera is under development for Robo-AO, and a clone of the system is in the planning stages. This presentation will discuss the Robo-AO instrument capabilities, summarize the science programs undertaken, and discuss the future of Robo-AO.

  16. Carpal Tunnel Syndrome

    PubMed Central

    Zimmerman, Gregory R.

    1994-01-01

    Carpal tunnel syndrome is a neuropathy resulting from compression of the median nerve as it passes through a narrow tunnel in the wrist on its way to the hand. The lack of precise objective and clinical tests, along with symptoms that are synonymous with other syndromes in the upper extremity, cause carpal tunnel syndrome to appear to be a rare entity in athletics. However, it should not be ruled out as a possible etiology of upper extremity paralysis in the athlete. More typically, carpal tunnel syndrome is the most common peripheral entrapment neuropathy encountered in industry. Treatment may include rest and/or splinting of the involved wrist, ice application, galvanic stimulation, or iontophoresis to reduce inflammation, and then transition to heat modalities and therapeutic exercises for developing flexibility, strength, and endurance. In addition, an ergonomic assessment should be conducted, resulting in modifications to accommodate the carpal tunnel syndrome patient. ImagesFig 3.Fig 4.Fig 5.Fig 6.Fig 7. PMID:16558255

  17. [Paraneoplastic rheumatic syndromes].

    PubMed

    Gracia-Ramos, Abraham Edgar; Vera-Lastra, Olga Lidia

    2012-01-01

    Paraneoplastic rheumatic syndromes are defined as those events associated with cancer that occur away from the primary tumor or its metastases and are induced by the presence of the tumor through biological products like hormones, peptides, autocrine or paracrine mediators, antibodies or cytotoxic lymphocytes. Of these, hypertrophic osteoarthropathy, carcinomatous polyarthritis, dermatomyositis/polymyositis, and paraneoplastic vasculitis are the most frequently recognized. Other less known associations are based upon a smaller number of case reports, and include palmar fasciitis, panniculitis, erythema nodosum, Raynaud¥s phenomenon, erythromelalgia and Lupus-like syndrome. Usually the clinical course of rheumatic paraneoplastic syndrome and cancer parallels the resolution of the tumor usually leads to resolution of this syndrome. It is difficult make the distinction between idiopathic rheumatic syndromes from those that result from cancer. Still, there are several clinical data that can guide us to the presence of an occult malignancy, and should be identified as the detection of cancer can lead to early treatment and better prognosis.

  18. Fat embolism syndrome

    PubMed Central

    Richards, Robin R.

    1997-01-01

    Fat embolism syndrome, an important contributor to the development of acute respiratory distress syndrome, has been associated with both traumatic and nontraumatic disorders. Fat embolization after long bone trauma is probably common as a subclinical event. Fat emboli can deform and pass through the lungs, resulting in systemic embolization, most commonly to the brain and kidneys. The diagnosis of fat embolism syndrome is based on the patient’s history, supported by clinical signs of pulmonary, cerebral and cutaneous dysfunction and confirmed by the demonstration of arterial hypoxemia in the absence of other disorders. Treatment of fat embolism syndrome consists of general supportive measures, including splinting, maintenance of fluid and electrolyte balance and the administration of oxygen. Endotracheal intubation and mechanical ventilatory assistance can be indicated. The role of corticosteroids remains controversial. Early stabilization of long bone fractures has been shown to decrease the incidence of pulmonary complications. Clinical and experimental studies suggest that the exact method of fracture fixation plays a minor role in the development of pulmonary dysfunction. As more is learned about the specifics of the various triggers for the development of fat embolism syndrome, it is hoped that the prospect of more specific therapy for the prevention and treatment of this disorder will become a reality. PMID:9336522

  19. The SAHA syndrome.

    PubMed

    Orfanos, C E; Adler, Y D; Zouboulis, C C

    2000-01-01

    The presence of seborrhoea, acne, hirsutism and alopecia in women has first been summarized as SAHA syndrome in 1982 and can be associated with polycystic ovary syndrome, cystic mastitis, obesity and infertility. In 1994, the association of these androgen-dependent cutaneous signs, was classified according to their etiology into four types: (1) idiopathic, (2) ovarian, (3) adrenal, and (4) hyperprolactinemic SAHA. The HAIRAN syndrome has been currently described as a fifth variant with polyendocrinopathy. The SAHA syndrome generally occurs in young to middle-aged women and involves either the presence of elevated blood levels of androgens or increased androgen-driven peripheral response with normal circulating androgen levels. Peripheral metabolism of androgens takes place in various areas within the pilosebaceous unit, as indicated by local differences in the activities of aromatase, 5alpha-reductase as well as of the presence of the androgen receptors. In cases of SAHA syndrome, careful diagnostic and clinical evaluation has to be performed in order to identify the cause for peripheral hyperandrogenism and to exclude androgen-producing tumors. Treatment will target the etiology, whereas the management in idiopathic cases will aim to improve the clinical features of SAHA.

  20. General Information about Myelodysplastic Syndromes

    MedlinePlus

    ... Patient Myelo-proliferative Neoplasms Patient Myelodysplastic Syndromes Treatment Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Health Professional Myelodysplastic ...

  1. Treatment Options for Myelodysplastic Syndromes

    MedlinePlus

    ... Patient Myelo-proliferative Neoplasms Patient Myelodysplastic Syndromes Treatment Myeloproliferative Neoplasms Treatment Myelodysplastic/ Myeloproliferative Neoplasms Treatment Health Professional Myelodysplastic ...

  2. Down Syndrome: A Cardiovascular Perspective

    ERIC Educational Resources Information Center

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  3. Genetic Syndromes Associated with Craniosynostosis

    PubMed Central

    2016-01-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847

  4. Neurobiological Basis of Ganser Syndrome

    PubMed Central

    Ouyang, Daniel; Duggal, Harpreet S.; Jacob, N.J.

    2003-01-01

    Ganser syndrome continues to be a rare and widely misunderstood condition. While DSM-IV classifies Ganser syndrome as a dissociative disorder, its etiology continues to be debated. There are episodic reports in the literature of Ganser syndrome in patients with head trauma or strokes. However, the mechanisms by which these cerebral insults lead to Ganser syndrome or other dissociative states are largely unknown.A case of a patient with Ganser syndrome with a prior history of stroke and bifrontal infarcts is described. This case demonstrates how organic pathology may predispose a patient to dissociative states, such as Ganser syndrome. We review the relationship between hyperglutamatergic states, caused by stroke and stress, and dissociative symptoms.Ganser syndrome continues to be a rare and widely misunderstood condition. While DSM-IV classifies Ganser syndrome as a dissociative disorder, its etiology continues to be debated. There are episodic reports in the literature of Ganser syndrome in patients with head trauma or strokes. However, the mechanisms by which these cerebral insults lead to Ganser syndrome or other dissociative states are largely unknown.A case of a patient with Ganser syndrome with a prior history of stroke and bifrontal infarcts is described. This case demonstrates how organic pathology may predispose a patient to dissociative states, such as Ganser syndrome. We review the relationship between hyperglutamatergic states, caused by stroke and stress, and dissociative symptoms. PMID:21206870

  5. A Journey with Klinefelter Syndrome

    ERIC Educational Resources Information Center

    Cover, Virginia Isaacs

    2006-01-01

    In this article, the author shares her experience having a son with Klinefelter Syndrome. Klinefelter Syndrome, also known as 47,XXY, is estimated to occur in 1 out of 600 males, making it the most common chromosomal disorder. Babies with Klinefelter Syndrome rarely have any physical differences that are detectable, which is the reason that so few…

  6. An Overview of Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Siegfried M.

    This booklet presents information regarding the history, incidence, and effects of Down Syndrome. The first chapter, presenting an historical perspective of the condition, provides information on counseling parents of Down Syndrome children, and the chromosome structures seen in Down Syndrome patients. The next chapter discusses medical aspects in…

  7. Urinary Peptides in Rett Syndrome.

    ERIC Educational Resources Information Center

    Solaas, K. M.; Skjeldal, O.; Gardner, M. L. G.; Kase, B. F.; Reichelt, K. L.

    2002-01-01

    A study found a significantly higher level of peptides in the urine of 53 girls with Rett syndrome compared with controls. The elevation was similar to that in 35 girls with infantile autism. Levels of peptides were lower in girls with classic Rett syndrome than those with congenital Rett syndrome. (Contains references.) (Author/CR)

  8. Recognizing postural orthostatic tachycardia syndrome.

    PubMed

    Pavlik, Daniel; Agnew, Donna; Stiles, Lauren; Ditoro, Rachel

    2016-04-01

    This article describes the pathophysiology, clinical presentation, differential diagnosis, diagnosis, and management of postural orthostatic tachycardia syndrome (POTS), a potentially debilitating autonomic disorder that can have many causes and presentations. POTS can be mistaken for panic disorder, inappropriate sinus tachycardia, and chronic fatigue syndrome. Clinician suspicion for the syndrome is key to prompt patient diagnosis and treatment.

  9. Anterior tarsal tunnel syndrome.

    PubMed

    DiDomenico, Lawrence A; Masternick, Eric B

    2006-07-01

    Compression of the deep peroneal nerve is commonly referred to as anterior tarsal tunnel syndrome. Although rare, this syndrome remains poorly diagnosed. The syndrome is characterized by pain, weakness, and sensory changes of the foot and ankle. Non-operative measures should be attempted to reduce or remove the external compression along the anterior aspect of the foot and ankle. Other options include shoe modifications, cortisone injections,and physical therapy. If conservative management fails to relieve the symptoms, surgical decompression of the entrapped nerve can be performed. The deep peroneal nerve is released from compressive forces in the entrapment site. This can be performed at the more proximal level at the extensor retinaculum or more distally at the level of the tarsal metatarsal site.

  10. Atypical Cogan's Syndrome

    PubMed Central

    Queirós, João; Maia, Sofia; Seca, Mariana; Friande, António; Araújo, Maria; Meireles, Angelina

    2013-01-01

    Background. Cogan's syndrome is a rare clinical entity whose etiopathology is still unknown, and the treatment strategies are not clearly defined. Case. A 23-year-old male presented with symptoms of headache, peripheral facial palsy, persistent right hearing loss and bilateral papillitis. Workup excluded all infectious, granulomatous, neoplastic, and immune causes. The diagnosis of atypical Cogan's syndrome was established, and the patient was treated with systemic corticosteroids and later on with cyclophosphamide and methotrexate. There were improvement of visual symptoms and stabilisation of left hearing. Conclusion. Cogan's syndrome is a very rare disease with no specific biological tests for the diagnosis. The diagnostic exams are mostly important to exclude other etiologies. The atypical ocular and audiovestibular manifestations make the diagnosis difficult, delaying the institution of appropriate therapy which may result in profound bilateral deafness. PMID:23691387

  11. Developmental Gerstmann's syndrome.

    PubMed

    PeBenito, R; Fisch, C B; Fisch, M L

    1988-09-01

    The tetrad of finger agnosia, dysgraphia, dyscalculia, and right-left disorientation make up Gerstmann's syndrome. The tetrad has been infrequently described in children with learning disability and has been called developmental Gerstmann's syndrome (DGS). Developmental Gerstmann's syndrome may occur in brain-damaged and apparently normal children. Five children in whom DGS occurred in association with brain abnormalities underwent long-term observation, which indicated persistence of the deficits. The identification of these cases suggests that DGS may not be as rare as previously thought and may often be unrecognized. Testing for the Gerstmann elements in learning-disabled children may identify otherwise undiagnosed cases of DGS and should be routinely employed in the neurologic examination. Until appropriate teaching methods for DGS are found, "bypassing" the deficits and utilizing the child's strengths, plus counseling, seem to offer an effective treatment approach.

  12. Lemierre's syndrome (necrobacillosis)

    PubMed Central

    Golpe, R.; Marin, B.; Alonso, M.

    1999-01-01

    Lemierre's syndrome or postanginal septicaemia (necrobacillosis) is caused by an acute oropharyngeal infection with secondary septic thrombophlebitis of the internal jugular vein and frequent metastatic infections. Fusobacterium necrophorum is the most common pathogen isolated from the patients. The interval between the oropharyngeal infection and the onset of the septicaemia is usually short. The most common sites of septic embolisms are the lungs and joints, and other locations can be affected. A high degree of clinical suspicion is needed to diagnose the syndrome. Computed tomography of the neck with contrast is the most useful study to detect internal jugular vein thrombosis. Treatment includes intravenous antibiotic therapy and drainage of septic foci. The role of anticoagulation is controversial. Ligation or excision of the internal jugular vein may be needed in some cases.


Keywords: Lemierre's syndrome; Fusobacterium necrophorum; necrobacillosis; septicaemia; oropharynx PMID:10448489

  13. Obstetric antiphospholipid syndrome.

    PubMed

    Esteve-Valverde, E; Ferrer-Oliveras, R; Alijotas-Reig, J

    2016-04-01

    Obstetric antiphospholipid syndrome is an acquired autoimmune disorder that is associated with various obstetric complications and, in the absence of prior history of thrombosis, with the presence of antiphospholipid antibodies directed against other phospholipids, proteins called cofactors or PL-cofactor complexes. Although the obstetric complications have been related to the procoagulant properties of antiphospholipid antibodies, pathological studies of human placenta have shown the proinflammatory capacity of antiphospholipid antibodies via the complement system and proinflammatory cytokines. There is no general agreement on which antiphospholipid antibodies profile (laboratory) confers the greatest obstetric risk, but the best candidates are categories I and IIa. Combined treatment with low doses of aspirin and heparin achieves good obstetric and maternal outcomes. In this study, we also review the therapeutic possibilities in refractory cases, although the likelihood of progressing to other autoimmune diseases is low. We briefly comment on incomplete obstetric antiphospholipid syndrome, also known as antiphospholipid antibody-mediated pregnancy morbidity syndrome.

  14. Andersen-Tawil syndrome.

    PubMed

    Weir, Robin A P; Petrie, Colin J; Murday, Victoria; Findlay, Iain N

    2011-04-01

    Advances in the understanding of genetic aspects of cardiovascular diseases, together with an increase in the availability of genetic analysis, have resulted in not only increased diagnosis of known inherited conditions, but also the identification of novel syndromes. The combination of potassium-sensitive periodic paralysis, ventricular arrhythmias and dysmorphism, initially described by Andersen and Tawil, represents such a novel condition. We report a case in which genetic analysis led to the diagnosis of Andersen-Tawil syndrome after 15 years of protracted non-invasive and invasive investigations from initial presentation to ultimate diagnosis in a young female. In conclusion, we describe the clinical and genetic features of Andersen-Tawil syndrome and demonstrate the utility of genetic testing in the diagnosis of cardiovascular disease.

  15. Neonatal hepatitis syndrome.

    PubMed

    Roberts, Eve A

    2003-10-01

    Conjugated hyperbilirubinaemia in an infant indicates neonatal liver disease. This neonatal hepatitis syndrome has numerous possible causes, classified as infective, anatomic/structural, metabolic, genetic, neoplastic, vascular, toxic, immune and idiopathic. Any infant who is jaundiced at 2-4 weeks old needs to have the serum conjugated bilirubin measured, even if he/she looks otherwise well. If conjugated hyperbilirubinaemia is present, a methodical and comprehensive diagnostic investigation should be performed. Early diagnosis is critical for the best outcome. In particular, palliative surgery for extrahepatic biliary atresia has the best chance of success if performed before the infant is 8 weeks old. Definitive treatments available for many causes of neonatal hepatitis syndrome should be started as soon as possible. Alternatively, liver transplantation may be life saving. Supportive care, especially with attention to nutritional needs, is important for all infants with neonatal hepatitis syndrome.

  16. [Economy class syndrome].

    PubMed

    Morio, Hiroshi

    2003-10-01

    Economy class syndrome is venous thromboembolism following air travel. This syndrome was firstly reported in 1946, and many cases have been reported since 1990s. Low air pressure and low humidity in the aircraft cabin may contribute to the mechanism of this syndrome. Risk factors for venous thrombosis in the plane were old age, small height, obesity, hormonal therapy, malignancy, smoking, pregnancy or recent parturition, recent trauma or operation, chronic disease and history of venous thrombosis. In Japan, the feminine gender is also risk factor though reason was not well known. For prophylaxis, adequate fluid intake and leg exercise are recommended to all passengers. For passengers with high risk, prophylactic measures such as compression stockings, aspirin or low molecular weight heparin should be considered.

  17. Hemolytic uremic syndrome

    PubMed Central

    Canpolat, Nur

    2015-01-01

    Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by the triad of thrombotic microangiopathy, thrombocytopenia, and acute kidney injury. Hemolytic uremic syndrome represents a heterogeneous group of disorders with variable etiologies that result in differences in presentation, management and outcome. In recent years, better understanding of the HUS, especially those due to genetic mutations in the alternative complement pathway have provided an update on the terminology, classification, and treatment of the disease. This review will provide the updated classification of the disease and the current diagnostic and therapeutic approaches on the complement-mediated HUS in addition to STEC-HUS which is the most common cause of the HUS in childhood. PMID:26265890

  18. [Intraoperative floppy iris syndrome].

    PubMed

    Mazal, Z

    2007-04-01

    In the year 2005, Chang and Cambell described unusual reaction of the iris during the cataract surgery in patients treated with tamsulosine. This was named as IFIS, an acronym for the Intraoperative Floppy Iris Syndrome. In its advanced stage, the syndrome is characterized by insufficient mydfiasis before the surgery, narrowing of the pupil during the surgery, its impossible dilatation during the surgery by means of stretching, unusual elasticity of the pupilar margin, surging and fluttering iris with tendency to prolapse. The same manifestations we observed in our patients and we confirm the direct connection with tamsulosine hydrochloride treatment. Tamsulosine is the antagonist of alpha 1A adrenergic receptors whose are present, except in the smooth musculature of the prostate gland and the urinary bladder, in the iris dilator as well. At the same time we observed this syndrome rarely in some patients not using tamsulosine. In most cases, these patients were treated with antipsychotic drugs.

  19. Posterior ankle impingement syndrome.

    PubMed

    Maquirriain, Javier

    2005-10-01

    Posterior ankle impingement syndrome is a clinical disorder characterized by posterior ankle pain that occurs in forced plantar flexion. The pain may be acute as a result of trauma or chronic from repetitive stress. Pathology of the os trigonum-talar process is the most common cause of this syndrome, but it also may result from flexor hallucis longus tenosynovitis, ankle osteochondritis, subtalar joint disease, and fracture. Patients usually report chronic or recurrent posterior ankle pain caused or exacerbated by forced plantar flexion or push-off maneuvers, such as may occur during dancing, kicking, or downhill running. Diagnosis of posterior ankle impingement syndrome is based primarily on clinical history and physical examination. Radiography, scintigraphy, computed tomography, and magnetic resonance imaging depict associated bone and soft-tissue abnormalities. Symptoms typically improve with nonsurgical management, but surgery may be required in refractory cases.

  20. POEMS Syndrome: an Enigma.

    PubMed

    Warsame, Rahma; Yanamandra, Uday; Kapoor, Prashant

    2017-03-15

    POEMS syndrome is a paraneoplastic disorder secondary to an underlying plasma cell dyscrasia. By definition, all patients with POEMS syndrome must display polyneuropathy and monoclonal plasma cell disorder. In addition, at least one major criterion (Castleman's disease, sclerotic bone lesions, or vascular endothelial growth factor elevation) and one minor criterion (organomegaly, extravascular volume overload, endocrinopathy, skin changes, papilledema, thrombocytosis, or polycythemia) are required for diagnosis. Treatment is based on extent of the disease. Radiotherapy is used for localized disease. Systemic therapy is required for disseminated disease, with bone marrow involvement by clonal plasma cells, or in patients who progress shortly after radiation. Upfront autologous stem cell transplantation is the treatment of choice for transplant-eligible patients. Outcomes are typically superior to that of standard myeloma. Herein, using a case vignette, we outline the latest evidence regarding the prognostication and management of POEMS syndrome, with a focus on its relapsing-remitting course.

  1. The Robo-AO software: fully autonomous operation of a laser guide star adaptive optics and science system

    NASA Astrophysics Data System (ADS)

    Riddle, Reed L.; Burse, Mahesh P.; Law, Nicholas M.; Tendulkar, Shriharsh P.; Baranec, Christoph; Rudy, Alexander R.; Sitt, Marland; Arya, Ankit; Papadopoulos, Athanasios; Ramaprakash, A. N.; Dekany, Richard G.

    2012-07-01

    Robo-AO is the first astronomical laser guide star adaptive optics (AO) system designed to operate completely independent of human supervision. A single computer commands the AO system, the laser guide star, visible and near-infrared science cameras (which double as tip-tip sensors), the telescope, and other instrument functions. Autonomous startup and shutdown sequences as well as concatenated visible observations were demonstrated in late 2011. The fully robotic software is currently operating during a month long demonstration of Robo- AO at the Palomar Observatory 60-inch telescope.

  2. Postural Orthostatic Tachycardia Syndrome

    PubMed Central

    2014-01-01

    The postural orthostatic tachycardia syndrome is a disease characterized by excessively increased heart rate during orthostatic challenge associated with symptoms of orthostatic intolerance including dizziness, exercise intolerance, headache, fatigue, memory problems, nausea, blurred vision, pallor, and sweating, which improve with recumbence. Postural orthostatic tachycardia syndrome patients may present with a multitude of additional symptoms that are attributable to vascular vasoconstriction. Observed signs and symptoms in a patient with postural orthostatic tachycardia syndrome include tachycardia at rest, exaggerated heart rate increase with upright position and exercise, crushing chest pain, tremor, syncope, loss of vision, confusion, migraines, fatigue, heat intolerance, parasthesia, dysesthesia, allodynia, altered traditional senses, and thermoregulatory abnormalities. There are a number of possible dermatological manifestations of postural orthostatic tachycardia syndrome easily explained by its recently discovered pathophysiology. The author reports the case of a 22-year-old woman with moderate-to-severe postural orthostatic tachycardia syndrome with numerous dermatological manifestations attributable to the disease process. The cutaneous manifestations observed in this patient are diverse and most noticeable during postural orthostatic tachycardia syndrome flares. The most distinct are evanescent, hyperemic, sharply demarcated, irregular patches on the chest and neck area that resolve upon diascopy. This distinct “evanescent hyperemia” disappears spontaneously after seconds to minutes and reappears unexpectedly. Other observed dermatological manifestations of this systemic disease include Raynaud’s phenomenon, koilonychia, onychodystrophy, madarosis, dysesthesia, allodynia, telogen effluvium, increased capillary refill time, and livedo reticularis. The treatment of this disease poses a great challenge. The author reports the unprecedented use of an

  3. Marfan syndrome: current perspectives.

    PubMed

    Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano

    2016-01-01

    Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential

  4. PDGFRA-mutant syndrome.

    PubMed

    Ricci, Riccardo; Martini, Maurizio; Cenci, Tonia; Carbone, Arnaldo; Lanza, Paola; Biondi, Alberto; Rindi, Guido; Cassano, Alessandra; Larghi, Alberto; Persiani, Roberto; Larocca, Luigi M

    2015-07-01

    Germline PDGFRA mutations cause multiple heterogeneous gastrointestinal mesenchymal tumors. In its familial form this disease, which was formerly termed intestinal neurofibromatosis/neurofibromatosis 3b (INF/NF3b), has been included among familial gastrointestinal stromal tumors (GISTs) because of its genotype, described when GIST was the only known PDGFRA-mutant gastrointestinal tumor. Shortly afterwards, however, inflammatory fibroid polyps also revealed PDGFRA mutations. Subsequently, gastrointestinal CD34+ 'fibrous tumors' of uncertain classification were described in a germline PDGFRA-mutant context. Our aim was to characterize the syndrome produced by germline PDGFRA mutations and establish diagnostic criteria and management strategies for this hitherto puzzling disease. We studied a kindred displaying multiple gastrointestinal mesenchymal tumors, comparing it with published families/individuals with possible analogous conditions. We identified a novel inherited PDGFRA mutation (P653L), constituting the third reported example of familial PDGFRA mutation. In adult mutants we detected inflammatory fibroid polyps, gastric GISTs and gastrointestinal fibrous tumors of uncertain nosology. We demonstrate that the syndrome formerly defined as INF/NF3b (exemplified by the family reported herein) is simplistically considered a form of familial GIST, because inflammatory fibroid polyps often prevail. Fibrous tumors appear variants of inflammatory fibroid polyps. 'INF/NF3b' and 'familial GIST' are misleading terms which we propose changing to 'PDGFRA-mutant syndrome'. In this condition, unlike KIT-dependent familial GIST syndromes, if present, GISTs are stomach-restricted and diffuse Cajal cell hyperplasia is not observed. This restriction of GISTs to the stomach in PDGFRA-mutant syndrome: (i) focuses oncological concern on gastric masses, as inflammatory fibroid polyps are benign; (ii) supports a selective role of gastric environment for PDGFRA mutations to elicit GISTs

  5. Is the BL Lacertae object AO 0235 + 164 being lensed by its intervening MG II absorber?

    NASA Astrophysics Data System (ADS)

    Abraham, Roberto G.; Crawford, Carolin S.; Merrifield, Michael R.; Hutchings, John B.; McHardy, Ian M.

    1993-09-01

    We report the results of deep CFHT imaging of the BL Lac object AO 0235 + 164. This object exhibits Mg II absorption features and has been considered to be the best candidate for a microlensed BL Lac on the basis of its multiple redshift systems, decentered host, and extreme apparent superluminal motion. We test the microlensing hypothesis by modeling our images with a two-dimensional image fitting routine. The resulting best-fit models allow us to put strong constraints on lensing scenarios for this object, and to put limits on the mass-to-light ratio of the foreground Mg II absorbing galaxy. We conclude that, while AO 0235 + 164 is almost certainly being weakly amplified by macrolensing, microlensing by stars in the foreground lens is unnecessary in order to explain the observed properties of AO 0235 + 164. These results are combined with the work of previous authors to suggest that the (probably lensing) Mg II absorbing galaxy in the foreground of AO 0235 + 164 is embedded in a cooling flow.

  6. Atomic Oxygen (AO) and Nitrogen (AN) In-situ Flux Sensor

    DTIC Science & Technology

    2016-03-10

    Grant # FA9550-01-1-0433 M. R. Beasley, PI Stanford University Project Title: Atomic Oxygen (AO) and Nitrogen (AN) In-situ Flux Sensor ...intensity. The major technological challenge is the VUV nature of the relevant spectral lines in the case of oxygen and nitrogen. A LabVIEW™-based data

  7. Performance of a MEMS-based AO-OCT system using Fourier Reconstruction

    SciTech Connect

    Evans, J; Zawadzki, R; Jones, S; Olivier, S; Werner, J S

    2009-01-21

    Adaptive optics (AO) and optical coherence tomography (OCT) are powerful imaging modalities that, when combined, can provide high-resolution (3.5 {micro}m isotropic), 3-D images of the retina. The AO-OCT system at UC Davis has demonstrated the utility of this technology for microscopic, volumetric, in vivo retinal imaging. The current system uses an AOptix bimorph deformable mirror (DM) for low-order, high-stroke correction and a 140-actuator Boston Micromachines DM for high-order correction. Developments to improve performance or functionality of the instrument are on-going. Based on previous work in system characterization we have focused on improved AO control. We present preliminary results and remaining challenges for a newly implemented Fourier transform reconstructor (FTR). The previously reported error budget analysis is also reviewed and updated, with consideration of how to improve both the amount of residual error and the robustness of the system. Careful characterization of the AO system will lead to improved performance and inform the design of future systems.

  8. GPS-Based Navigation And Orbit Determination for the AMSAT AO-40 Satellite

    NASA Technical Reports Server (NTRS)

    Davis, George; Moreau, Michael; Carpenter, Russell; Bauer, Frank

    2002-01-01

    The AMSAT OSCAR-40 (AO-40) spacecraft occupies a highly elliptical orbit (HEO) to support amateur radio experiments. An interesting aspect of the mission is the attempted use of GPS for navigation and attitude determination in HEO. Previous experiences with GPS tracking in such orbits have demonstrated the ability to acquire GPS signals, but very little data were produced for navigation and orbit determination studies. The AO-40 spacecraft, flying two Trimble Advanced Navigation Sensor (TANS) Vector GPS receivers for signal reception at apogee and at perigee, is the first to demonstrate autonomous tracking of GPS signals from within a HEO with no interaction from ground controllers. Moreover, over 11 weeks of total operations as of June 2002, the receiver has returned a continuous stream of code phase, Doppler, and carrier phase measurements useful for studying GPS signal characteristics and performing post-processed orbit determination studies in HEO. This paper presents the initial efforts to generate AO-40 navigation solutions from pseudorange data reconstructed from the TANS Vector code phase, as well as to generate a precise orbit solution for the AO-40 spacecraft using a batch filter.

  9. Effects of adrenergic agents on the expression of zebrafish (Danio rerio) vitellogenin Ao1

    SciTech Connect

    Yin Naida; Jin Xia; He Jiangyan; Yin Zhan

    2009-07-01

    Teleost vitellogenins (VTGs) are large multidomain apolipoproteins, traditionally considered to be estrogen-responsive precursors of the major egg yolk proteins, expressed and synthesized mainly in hepatic tissue. The inducibility of VTGs has made them one of the most frequently used in vivo and in vitro biomarkers of exposure to estrogen-active substances. A significant level of zebrafish vtgAo1, a major estrogen responsive form, has been unexpectedly found in heart tissue in our present studies. Our studies on zebrafish cardiomyopathy, caused by adrenergic agonist treatment, suggest a similar protective function of the cardiac expressed vtgAo1. We hypothesize that its function is to unload surplus intracellular lipids in cardiomyocytes for 'reverse triglyceride transportation' similar to that found in lipid transport proteins in mammals. Our results also demonstrated that zebrafish vtgAo1 mRNA expression in heart can be suppressed by both {alpha}-adrenergic agonist, phenylephrine (PE) and {beta}-adrenergic agonist, isoproterenol (ISO). Furthermore, the strong stimulation of zebrafish vtgAo1 expression in plasma induced by the {beta}-adrenergic antagonist, MOXIsylyl, was detected by Enzyme-Linked ImmunoSorbent Assay (ELISA). Such stimulation cannot be suppressed by taMOXIfen, an antagonist to estrogen receptors. Thus, our present data indicate that the production of teleost VTG in vivo can be regulated not only by estrogenic agents, but by adrenergic signals as well.

  10. [Anterior tarsal tunnel syndrome].

    PubMed

    Miliam, Palle B; Basse, Peter N

    2009-03-30

    Anterior tarsal tunnel syndrome is a rare entrapment neuropathy of the deep peroneal nerve beneath the extensor retinaculum of the ankle. It may be rare because it is underrecognized clinically.We present a case regarding a 29-year-old man, drummer, who for one and a half year experienced clinical symptoms of anterior tarsal tunnel syndrome. A surgical decompression of the anterior tarsal tunnel was performed, and at the check three months later the symptoms where gone. One year after, there were still no symptoms.

  11. [The Patau syndrome].

    PubMed

    Misanović, Verica; Jonuzi, Fedat; Biscević, Emir; Uzicanin, Sajra; Vegar, Sandra

    2002-01-01

    Known as D trisomy, Patau syndrome is the third chromosomopathy according to frequency. One of the 5000 newborn carries the trisomy 13. In over 80% cases there is fresh mutation with non separation in myeosis of older mother. The mosaic or translocation forms are not rare. The mail newborn with Patau syndrome is shown in this article. We notice: microcephalia, dolihocephalia, microphthalmia, cheilognatopalatoshisis, polydactilia, and found ultrasound changes at the brain, hearth and genitourinary system. Cytogenetic finding show: mail cariotype with aberrations 47, XY + 13, Sy Patau.

  12. Treacher Collins Syndrome

    PubMed Central

    Chang, Christopher C.; Steinbacher, Derek M.

    2012-01-01

    Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome. PMID:23633935

  13. Wernicke-Korsakoff syndrome.

    PubMed

    Zubaran, C; Fernandes, J G; Rodnight, R

    1997-01-01

    Alcohol abuse is one of the most serious problems in public health and the Wernicke-Korsakoff syndrome is one of the gravest consequences of alcoholism. The pathology is often undiagnosed in its less evident presentations, therefore an accurate diagnostic approach is a critical step in treatment planning. Treatment is based on restoration of thiamine, although this is insufficient to prevent the psychological decline of a great number of patients. The cognitive impact of the pathology is derived from the interaction of alcoholic neurotoxicity, thiamine deficiency and personal susceptibility. In this article, the literature concerning Wernicke-Korsakoff syndrome is reviewed.

  14. War Sailor syndrome.

    PubMed

    Askevold, F

    One third of the Norwegian sailors in the merchant navy, who survived World War II, are today disabled and on invalid pension. The majority suffer from a syndrome which is very similar to that present in the concentration camp survivors. The syndrome falls into two parts, the one consisting of non-neurotic anxiety repeating the terrors of war time, the other being a brain-organic one. This last part has in a few cases been confirmed by neuroradiology and neuropsychology. This is taken as an indicator that prolonged stress, as constant fear of death, may cause brain damage without physical trauma.

  15. Patellofemoral pain syndrome.

    PubMed

    Collado, Hervé; Fredericson, Michael

    2010-07-01

    Patellofemoral pain (PFP) syndrome is a frequently encountered overuse disorder that involves the patellofemoral region and often presents as anterior knee pain. PFP can be difficult to diagnose. Not only do the etiology, diagnosis, and treatment remain challenging, but the terminology used to describe PFP is used inconsistently and can be confusing. Patellofemoral pain syndrome (PFPS) seems to be multifactorial, resulting from a complex interaction among intrinsic anatomic and external training factors. Although clinicians frequently make the diagnosis of PFPS, no consensus exists about its etiology or the factors most responsible for causing pain. This article discusses the pathophysiology, diagnosis, and management of PFP.

  16. Shaken baby syndrome.

    PubMed

    Altimier, Leslie

    2008-01-01

    Non-accidental head trauma in infants is the leading cause of infant death from injury. Clinical features that suggest head trauma (also known as shaken baby syndrome or shaken impact syndrome) include the triad consisting of retinal hemorrhage, subdural, and/or subarachnoid hemorrhage in an infant with little signs of external trauma. Abusive head injuries are among the most common causes of serious and lethal injuries in children. These injuries may result from impact or shaking or a combination of these mechanisms. These mechanisms cause the child's head to undergo acceleration/ deceleration movements, which may create inertial movement of the brain within the cranial compartment.

  17. Alagille syndrome: clinical perspectives

    PubMed Central

    Saleh, Maha; Kamath, Binita M; Chitayat, David

    2016-01-01

    Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome. PMID:27418850

  18. Graham-Little syndrome.

    PubMed

    Zegarska, B; Kallas, D; Schwartz, R A; Czajkowski, R; Uchanska, G; Placek, W

    2010-10-01

    Graham-Little syndrome, also know as Graham-Little-Piccardi-Lassueur syndrome, is an unusual form of lichen planopilaris, characterized by the presence of cicatricial alopecia on the scalp, keratosis pilaris of the trunk and extremities, and non-cicatricial hair loss of the pubis and axillae. We present the case of a 47-year-old woman whose condition was unusual in that there was a prominence of scalp findings. Her treatment included a topical steroid plus systemic prednisone beginning at 30 mg every morning, which rendered her skin smooth, but did not alter her scalp lopecia.

  19. [Neuroleptic induced deficit syndrome].

    PubMed

    Szafrański, T

    1995-01-01

    Increasing interest in subjective aspects of therapy and rehabilitation focused the attention of psychiatrists, psychologists and psychopharmacologists on the mental side effects of neuroleptics. For the drug-related impairment of affective, cognitive and social function the name of neuroleptic-induced deficit syndrome (NIDS) is proposed. Patients with NIDS appear to be indifferent to the environmental stimuli, retarded and apathetic. They complain of feeling drugged and drowsy, weird, they suffer from lack of motivation, feel like "zombies". The paper presents description of NIDS and its differentiation from negative and depressive symptoms in schizophrenia and subjective perceiving of extrapyramidal syndromes.

  20. Parry-Romberg syndrome

    PubMed Central

    Aydın, Hasan; Yologlu, Zeynel; Sargın, Husamettin; Metin, Melike Rusen

    2015-01-01

    Progressive hemifacial atrophy also known as Parry-Romberg syndrome is an acquired, slowly progressive disorder, occurring more in women, primarily affecting one side of the face, mainly characterized by unilateral atrophy, and loss of skin and subcutaneous tissues of face, muscles, and bones. Ocular and neurologic involvements are common. The possible etiology is unclear without any known cure. We report a rare case of Parry-Romberg syndrome with classical features. The clinical features, radiological imaging findings, differential diagnosis, and available treatment options are discussed in this report. PMID:26492117