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Sample records for adams-oliver syndrome aos

  1. Adams-Oliver Syndrome: A Case with Full Expression

    PubMed Central

    Dehdashtian, Amir; Dehdashtian, Masoud

    2016-01-01

    Adams-Oliver syndrome (AOS) is characterized by the combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb defects of variable severity. It is believed that Adams-Oliver syndrome without major organ abnormalities does not necessarily alter the normal lifespan. We present a case without detectable major organ abnormality contrary to life but with poor weight gain. A male infant with scalp and skin cutis aplasia, generalized cutis aplasia, dilated veins over scalp and trunk, hypoplastic toes and nails of feet, glaucoma, poor feeding and poor weight gain. This report shows a case of AOS without major multiple organ abnormalities but with poor feeding and abnormal weight gain that may be alter the normal lifespan. PMID:27433307

  2. Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family

    PubMed Central

    D’Amico, Alessandra; Melis, Daniela; D’Arco, Felice; Di Paolo, Nilde; Carotenuto, Barbara; D’Anna, Gennaro; Russo, Carmela; Boemio, Pasquale; Brunetti, Arturo

    2013-01-01

    Summary Background To describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300). Material/Methods Brain MRI and MR angiography were performed at 1.5T. Results The siblings presented cerebellar cortex dysplasia characterized by the presence of cysts. Conclusions Abnormalities of CNS are an unusual manifestation of AOS. To our knowledge, this is the first report of cerebellar cortical dysplasia in a family with AOS. PMID:24505229

  3. 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. PMID:27178874

  4. Mutations in NOTCH1 cause Adams-Oliver syndrome.

    PubMed

    Stittrich, Anna-Barbara; Lehman, Anna; Bodian, Dale L; Ashworth, Justin; Zong, Zheyuan; Li, Hong; Lam, Patricia; Khromykh, Alina; Iyer, Ramaswamy K; Vockley, Joseph G; Baveja, Rajiv; Silva, Ermelinda Santos; Dixon, Joanne; Leon, Eyby L; Solomon, Benjamin D; Glusman, Gustavo; Niederhuber, John E; Roach, Jared C; Patel, Millan S

    2014-09-01

    Notch signaling determines and reinforces cell fate in bilaterally symmetric multicellular eukaryotes. Despite the involvement of Notch in many key developmental systems, human mutations in Notch signaling components have mainly been described in disorders with vascular and bone effects. Here, we report five heterozygous NOTCH1 variants in unrelated individuals with Adams-Oliver syndrome (AOS), a rare disease with major features of aplasia cutis of the scalp and terminal transverse limb defects. Using whole-genome sequencing in a cohort of 11 families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5' region and three coding variants (c.1285T>C [p.Cys429Arg], c.4487G>A [p.Cys1496Tyr], and c.5965G>A [p.Asp1989Asn]), two of which are de novo, in four unrelated probands. In a fifth family, we identified a heterozygous canonical splice-site variant (c.743-1 G>T) in an affected father and daughter. These variants were not present in 5,077 in-house control genomes or in public databases. In keeping with the prominent developmental role described for Notch1 in mouse vasculature, we observed cardiac and multiple vascular defects in four of the five families. We propose that the limb and scalp defects might also be due to a vasculopathy in NOTCH1-related AOS. Our results suggest that mutations in NOTCH1 are the most common cause of AOS and add to a growing list of human diseases that have a vascular and/or bony component and are caused by alterations in the Notch signaling pathway. PMID:25132448

  5. 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. ...

  6. Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

    PubMed Central

    Meester, Josephina A.N.; Southgate, Laura; Stittrich, Anna-Barbara; Venselaar, Hanka; Beekmans, Sander J.A.; den Hollander, Nicolette; Bijlsma, Emilia K.; Helderman-van den Enden, Appolonia; Verheij, Joke B.G.M.; Glusman, Gustavo; Roach, Jared C.; Lehman, Anna; Patel, Millan S.; de Vries, Bert B.A.; Ruivenkamp, Claudia; Itin, Peter; Prescott, Katrina; Clarke, Sheila; Trembath, Richard; Zenker, Martin; Sukalo, Maja; Van Laer, Lut; Loeys, Bart; Wuyts, Wim

    2015-01-01

    Adams-Oliver syndrome (AOS) is a rare developmental disorder characterized by the presence of aplasia cutis congenita (ACC) of the scalp vertex and terminal limb-reduction defects. Cardiovascular anomalies are also frequently observed. Mutations in five genes have been identified as a cause for AOS prior to this report. Mutations in EOGT and DOCK6 cause autosomal-recessive AOS, whereas mutations in ARHGAP31, RBPJ, and NOTCH1 lead to autosomal-dominant AOS. Because RBPJ, NOTCH1, and EOGT are involved in NOTCH signaling, we hypothesized that mutations in other genes involved in this pathway might also be implicated in AOS pathogenesis. Using a candidate-gene-based approach, we prioritized DLL4, a critical NOTCH ligand, due to its essential role in vascular development in the context of cardiovascular features in AOS-affected individuals. Targeted resequencing of the DLL4 gene with a custom enrichment panel in 89 independent families resulted in the identification of seven mutations. A defect in DLL4 was also detected in two families via whole-exome or genome sequencing. In total, nine heterozygous mutations in DLL4 were identified, including two nonsense and seven missense variants, the latter encompassing four mutations that replace or create cysteine residues, which are most likely critical for maintaining structural integrity of the protein. Affected individuals with DLL4 mutations present with variable clinical expression with no emerging genotype-phenotype correlations. Our findings demonstrate that DLL4 mutations are an additional cause of autosomal-dominant AOS or isolated ACC and provide further evidence for a key role of NOTCH signaling in the etiology of this disorder. PMID:26299364

  7. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome with Variable Cardiac Anomalies

    PubMed Central

    Southgate, Laura; Sukalo, Maja; Karountzos, Anastasios S.V.; Taylor, Edward J.; Collinson, Claire S.; Ruddy, Deborah; Snape, Katie M.; Dallapiccola, Bruno; Joss, Shelagh; Brancati, Francesco; Digilio, M. Cristina; Graul-Neumann, Luitgard M.; Salviati, Leonardo; Coerdt, Wiltrud; Jacquemin, Emmanuel; Wuyts, Wim; Zenker, Martin

    2015-01-01

    Background Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent advances in the understanding of the genetic basis of AOS, for the majority of affected subjects the underlying molecular defect remains unresolved. This study aimed to identify novel genetic determinants of AOS. Methods and Results Whole-exome sequencing was performed for 12 probands, each with a clinical diagnosis of AOS. Analyses led to the identification of novel heterozygous truncating NOTCH1 mutations (c.1649dupA and c.6049_6050delTC) in two kindreds in which AOS was segregating as an autosomal dominant trait. Screening a cohort of 52 unrelated AOS subjects, we detected 8 additional unique NOTCH1 mutations, including three de novo amino-acid substitutions, all within the ligand-binding domain. Congenital heart anomalies were noted in 47% (8/17) of NOTCH1-positive probands and affected family members. In leucocyte-derived RNA from subjects harboring NOTCH1 extracellular domain mutations, we observed significant reduction of NOTCH1 expression, suggesting instability and degradation of mutant mRNA transcripts by the cellular machinery. Transient transfection of mutagenized NOTCH1 missense constructs also revealed significant reduction in gene expression. Mutant NOTCH1 expression was associated with down-regulation of the Notch target genes HEY1 and HES1, indicating that NOTCH1-related AOS arises through dysregulation of the Notch signaling pathway. Conclusions These findings highlight a key role for NOTCH1 across a range of developmental anomalies that include cardiac defects, and implicate NOTCH1 haploinsufficiency as a likely molecular mechanism for this group of disorders. PMID:25963545

  8. AO Camelopardalis

    NASA Astrophysics Data System (ADS)

    Milone, E. F.; Piggott, D. H.; Morris, S. L.

    1982-04-01

    The first UBV light curves of the system AO Cam are presented, and reveal a W UMa light curve with a period of 0.329917 days. Fourier coefficients for the full B and V light curves were used to place approximate empirical limits on the 75-80 deg inclination, fill-out parameter of approximately 0.8, and mass-ratio in the 0.7-0.8 range, following the methods of Rucinski (1973, 1974). The spectral type of the system is about G5.

  9. 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.

  10. 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.

  11. Genetics Home Reference: Pfeiffer syndrome

    MedlinePlus

    ... individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and ... Citation on PubMed or Free article on PubMed Central Wilkie AO, Patey SJ, Kan SH, van den ...

  12. MEMS AO for Planet Finding

    NASA Technical Reports Server (NTRS)

    Rao, Shanti; Wallace, J. Kent; Shao, Mike; Schmidtlin, Edouard; Levine, B. Martin; Samuele, Rocco; Lane, Benjamin; Chakrabarti, Supriya; Cook, Timothy; Hicks, Brian; Jung, Paul

    2008-01-01

    This slide presentation reviews a method for planet finding using microelectromechanical systems (MEMS) Adaptive Optics (AO). The use of a deformable mirror (DM) is described as a part of the instrument that was designed with a nulling interferometer. The strategy that is used is described in detail.

  13. Aperture masking behind AO systems

    NASA Astrophysics Data System (ADS)

    Ireland, Michael J.

    2012-07-01

    Sparse Aperture-Mask Interferometry (SAM or NRM) behind Adaptive Optics (AO) has now come of age, with more than a dozen astronomy papers published from several 5-10m class telescopes around the world. I will describe the reasons behind its success in achieving relatively high contrasts ( 1000:1 at lambda/ D) and repeatable binary astronomy at the diffraction limit, even when used behind laser-guide star adaptive optics. Placed within the context of AO calibration, the information in an image can be split into pupil-plane phase, Fourier amplitude and closure-phase. It is the closure-phase observable, or its generalisation to Kernel phase, that is immune to pupil-plane phase errors at first and second-order and has been the reason for the technique's success. I will outline the limitations of the technique and the prospects for aperture-masking and related techniques in the future.

  14. 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.

  15. 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.

  16. [Discussion on academic origin of Ao shi shang han jin jing lu (Ao's Records of golden mirror on cold pathogenic diseases].

    PubMed

    Liang, Rong; Wang, Zhaoping

    2002-07-01

    Ao shi shang han jin jing lu (Ao's Records of Golden Mirror on Cold Pathogenic Diseases) is the extant first work of lingual diagnosis. It is demonstrated that the author of this book is categorized under the school of Liu Wansu based on the location of disease, the nature of disease, therapies and drugs, and pathogenesis in pathological lingual pictures described in this book. The lingual diagnosis was based on Liu Wansu's theory of fire - heat, and used for diagnosing warm diseases. Intuitionistic vision was used in this book to prove the direct relation between red tongue and heat syndrome, which was the important joint for the theory of warm diseases to derive from the theory of cold pathogenic diseases. At the same time, the set up of the model of diagnosis and treatment for red tongue - inner heat syndrome, and clearing inner heat is established. PMID:12639446

  17. Malabsorption Syndromes

    MedlinePlus

    ... syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include Celiac disease Lactose intolerance Short bowel syndrome. This happens after surgery to ...

  18. The triple system AO Monocerotis

    NASA Astrophysics Data System (ADS)

    Wolf, M.; Kučáková, H.; Hynek, T.; Melcer, L. Å.

    2010-05-01

    The variable star AO Mon is a relatively bright but seldom investigated early-type eccentric eclipsing binary. Thirty new eclipses were measured as a part of our long-term observational project or derived from previous measurements. Based on a new solution of the current O-C diagram, we found for the first time a rapid apsidal advance superimposed with a light-time effect caused by a third unseen body in the system. Their short periods are 33.8 years and 3.6 years for the apsidal motion and the third-body circular orbit, respectively. The observed internal structure constant was derived to be log k2, obs = -2.23, which is close to the theoretically expected value. The relativistic as well as the third-body effects on the apsidal advance are negligible, as they are only about 3% of the total apsidal motion rate. Partly based on observations secured at the South African Astronomical Observatory, Sutherland, South Africa, in April 2004.

  19. Isaac's Syndrome

    MedlinePlus

    ... syndrome (also known as neuromyotonia, Isaacs-Mertens syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome) is a rare neuromuscular disorder caused by hyperexcitability and continuous firing of ... which include progressive muscle stiffness, continuously contracting ...

  20. The Magellan Telescope adaptive secondary AO system

    NASA Astrophysics Data System (ADS)

    Close, Laird M.; Gasho, Victor; Kopon, Derek; Hinz, Phil M.; Hoffmann, William F.; Uomoto, Alan; Hare, Tyson

    2008-07-01

    The Magellan Clay telescope is a 6.5m Gregorian telescope located in southern Chile at Las Campanas Observatory. The Gregorian design allows for an adaptive secondary mirror that can be tested off-sky in a straight-forward manner. We have fabricated a 85 cm diameter aspheric adaptive secondary with our subcontractors and partners. This secondary has 585 actuators with <1 msec response times. The chopping adaptive secondary will allow low emissivity AO science. We will achieve very high Strehls (~98%) in the Mid-IR AO (8-26 microns) with the BLINC/MIRAC4 Mid-IR science camera. This will allow the first "super-resolution" and nulling Mid-IR studies of dusty southern objects. We will employ a high order (585 mode) pyramid wavefront sensor similar to that used in the Large Binocular Telescope AO systems. The relatively high actuator count will allow modest Strehls to be obtained in the visible (~0.8μm). Our visible light AO (Vis AO) science camera is fed by an advanced ADC and beamsplitter piggy-backed on the WFS optical table. The system science and performance requirements, and an overview the design, interface and schedule for the Magellan AO system are presented here.

  1. Into the blue: AO science with MagAO in the visible

    NASA Astrophysics Data System (ADS)

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

    2014-08-01

    We review astronomical results in the visible (λ<1μm) with adaptive optics. Other than a brief period in the early 1990s, there has been little astronomical science done in the visible with AO until recently. The most productive visible AO system to date is our 6.5m Magellan telescope AO system (MagAO). MagAO is an advanced Adaptive Secondary system at the Magellan 6.5m in Chile. This secondary has 585 actuators with < 1 msec response times (0.7 ms typically). We use a pyramid wavefront sensor. The relatively small actuator pitch (~23 cm/subap) allows moderate Strehls to be obtained in the visible (0.63-1.05 microns). We use a CCD AO science camera called "VisAO". On-sky long exposures (60s) achieve <30mas resolutions, 30% Strehls at 0.62 microns (r') with the VisAO camera in 0.5" seeing with bright R < 8 mag stars. These relatively high visible wavelength Strehls are made possible by our powerful combination of a next generation ASM and a Pyramid WFS with 378 controlled modes and 1000 Hz loop frequency. We'll review the key steps to having good performance in the visible and review the exciting new AO visible science opportunities and refereed publications in both broad-band (r,i,z,Y) and at Halpha for exoplanets, protoplanetary disks, young stars, and emission line jets. These examples highlight the power of visible AO to probe circumstellar regions/spatial resolutions that would otherwise require much larger diameter telescopes with classical infrared AO cameras.

  2. Dravet Syndrome

    MedlinePlus

    ... NINDS Dravet Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to ... Dravet Syndrome? Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

  3. Williams syndrome

    MedlinePlus

    Williams-Beuren syndrome ... Williams syndrome is a rare condition caused by missing a copy of several genes. Parents may not have ... history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder ...

  4. Brown Syndrome

    MedlinePlus

    ... Does Brown syndrome cause eye problems besides abnormal eye movements? Some children with Brown syndrome have poor binocular ... In the congenital form of Brown syndrome, the eye movement problem is usually constant and unlikely to resolve ...

  5. Fahr's Syndrome

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Fahr's Syndrome Information Page Synonym(s): Familial Idiopathic Basal Ganglia ... is being done? Clinical Trials Organizations What is Fahr's Syndrome? Fahr's Syndrome is a rare, genetically dominant, ...

  6. Cushing syndrome

    MedlinePlus

    ... Cushing disease Cushing syndrome due to adrenal tumor Diabetes Ectopic Cushing syndrome Exogenous Cushing syndrome Kidney stones Pituitary tumor Rheumatoid arthritis Tumor Update Date 10/28/2015 Updated by: ...

  7. 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

  8. The Subaru Coronagraphic Extreme AO Project

    NASA Astrophysics Data System (ADS)

    Martinache, Frantz; Guyon, O.; Lozi, J.; Tamura, M.; Hodapp, K.; Suzuki, R.; Hayano, Y.; McElwain, M. W.

    2009-01-01

    While the existence of large numbers of extrasolar planets around solar type stars has been unambiguously demonstrated by radial velocity, transit and microlensing surveys, attempts at direct imaging with AO-equipped large telescopes remain unsuccessful. Because they supposedly offer more favorable contrast ratios, young systems consitute prime targets for imaging. Such observations will provide key insights on the formation and early evolution of planets and disks. Current surveys are limited by modest AO performance which limits inner working angle to 0.2", and only reach maximum sensitivity outside 1". This translates into orbital distances greater than 10 AU even on most nearby systems, while only 5 % of the known exoplanets have a semimajor axis greater than 10 AU. This calls for a major change of approach in the techniques used for direct imaging of the direct vicinity of stars. A sensible way to do the job is to combine coronagraphy and Extreme AO. Only accurate and fast control of the wavefront will permit the detection of high contrast planetary companions within 10 AU. The SCExAO system, currently under assembly, is an upgrade of the HiCIAO coronagraphic differential imaging camera, mounted behind the 188-actuator curvature AO system on Subaru Telescope. This platform includes a 1000-actuator MEMS deformable mirror for high accuracy wavefront correction and a PIAA coronagraph which delivers high contrast at 0.05" from the star (5 AU at 100 pc). Key technologies have been validated in the laboratory: high performance wavefront sensing schemes, spider vanes and central obstruction removal, and lossless beam apodization. The project is designed to be highly flexible to continuously integrate new technologies with high scientific payoff. Planned upgrades include an integral field unit for spectral characterization of planets/disks and a non-redundant aperture mask to push the performance of the system toward separations less than lambda/D.

  9. Experimental comparison of Wide Field AO control schemes using the Homer AO bench.

    NASA Astrophysics Data System (ADS)

    Parisot, Amélie; Petit, Cyril; Fusco, Thierry

    2011-09-01

    Wide Field Adaptive Optics (WFAO) concepts, such as Laser Tomography AO (LTAO) or Multi-Conjugate AO (MCAO) have been developed in order to overcome the anisoplanatism limit of classical AO. Most of the future AO-assisted instruments of ELTs rely on such concepts which have raised critical challenges such as tomographic estimation and from laser and natural guide star combined with efficient DM(s) control. In that context, the experimental validation of the various clever control solutions proposed by several teams in the past years is now essential to reach a level of maturity compatible with their implementation in future WFAO developments for ELT. The ONERA wide field AO facility (HOMER bench) has been developed for these very issues. Gathering a 3D turbulence generator, laser and natural guide stars, two deformable mirrors with variable altitude positions and a PC-based flexible and user-friendly RTC , HOMER allows the implementation and comparison of control schemes from the simplest least-square to the optimal Linear Quadratic Gaussian solutions including Virtual DM and Pseudo-closed loop approaches. After a description of the bench internal calibrations and ultimate performance, all the control schemes are compared experimentally. Their evolutions as a function of wavefront sensors SNR as well as their robustness to calibration / model errors are particularly emphasised. Finally, we derive from the previous works some specific calibrations and identifications procedures ensuring both robustness and efficiency of WFAO systems and we extrapolate their applications to the future ELT AO systems.

  10. 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.

  11. Into the Blue: AO Science in the Visible with MagAO

    NASA Astrophysics Data System (ADS)

    Close, Laird; Males, Jared; Morzinski, Katie; Kopon, Derek; Follette, Kate; Rodigas, Timothy; Hinz, Philip; Wu, Ya-Lin; Puglisi, Alfio; Esposito, Simone; Riccardi, Armando; Pinna, Enrico; Xompero, Marco; Briguglio, Runa; Uomoto, Alan; Hare, Tison

    2013-12-01

    The Magellan Clay telescope is a 6.5m Gregorian telescope located in Chile at Las Campanas Observatory. We have fabricated an 85 cm diameter aspheric adaptive secondary with our subcontractors and partners, MagAO passed acceptance tests in spring 2012, and the entire System was commissioned from Nov 17 to Dec 7, 2012. This secondary has 585 actuators with < 1 msec response times (0.7 ms typically). We fabricated a high order (585 mode) pyramid wavefront sensor (similar to that of LBT's FLAO). The relatively high actuator count allows moderate Strehls to be obtained in the visible (0.63-1.05 microns). We have built an CCD science camera called "jVisAO". On-sky long exposures (60s) achieve 30% Strehls at 0.62 microns (r') with the VisAO camera in 0.5" seeing with bright R < 8 mag stars. These relatively high optical wavelength Strehls are made possible by our powerful combination of a next generation ASM and a Pyramid WFS with 200-400 controlled modes and 1000 Hz loop frequencies. To minimize non-common path errors and enable visible AO the VisAO science camera is fed by an advanced triplet ADC and is piggy-backed on the WFS optical board itself. Despite the ability to make 25 mas images we still have ~4 mas of resolution loss to residual vibrations. We will discuss what the most difficult aspects are for visible AO on ELTs scaling from our experience with MagAO.

  12. Atlantooccipital subluxation in a neonate with Down's syndrome. Case report and review of the literature.

    PubMed

    Trumble, E R; Myseros, J S; Smoker, W R; Ward, J D; Mickell, J J

    1994-01-01

    Atlantooccipital subluxation (AOS) occurs in up to 63% of patients with Down's syndrome. However, presenting symptoms and the age at which preoperative screening becomes necessary have not been clearly delineated. Recently, a 16-day-old female with Down's syndrome and AOS presented to our institution. Following patent ductus arteriosus ligation, her neurological examination revealed trace movement, few spontaneous respirations, and left lower extremity clonus. Cervical spine radiographs revealed significant AOS. She was reduced and underwent a fusion from the occiput to C2. She gradually regained full strength and sensation. This case is the youngest example of AOS related to Down's syndrome described. It emphasizes the need for preoperative screening of all patients with Down's syndrome. PMID:7947311

  13. Pseudoaminopterin syndrome.

    PubMed

    Kraoua, Lilia; Capri, Yline; Perrin, Laurence; Benmansour, Abdelmajjid; Verloes, Alain

    2012-09-01

    Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and growth retardation. The syndrome owes its name to the fact that patients resemble the children exposed to aminopterin or to methotrexate, two dihydrofolate reductase inhibitors used for chemotherapy, or as an abortificient in early pregnancy. Ten patients have been described with pseudoaminopterin syndrome. Their phenotype is variable, and differs from the phenotype resulting from folic acid deprivation, leading to the notion that the pathogenesis may be more complex than simple vitamin deficiency. We report on an Algerian patient with pseudoaminopterin syndrome, review the previously reported cases and confirm that pseudoaminopterin syndrome does not result from a detectable contiguous gene imbalance as high resolution CGH array was normal in this child. PMID:22811276

  14. Usher Syndrome

    MedlinePlus

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder ... hearing and vision. There are three types of Usher syndrome: People with type I are deaf from ...

  15. Morquio syndrome

    MedlinePlus

    ... to have children and who have a family history of Morquio syndrome. Counseling is also recommended for families who have a child with Morquio syndrome to help them understand the condition and possible treatments. Prenatal testing is available.

  16. Asperger syndrome

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/001549.htm Asperger syndrome To use the sharing features on this page, please enable JavaScript. Asperger syndrome is often considered a high functioning form ...

  17. Piriformis syndrome

    MedlinePlus

    ... sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis References Joseph RL, Alleva JT, Hudgins TH. Piriformis syndrome. In: Frontera: Essentials of Physical Medicine and Rehabilitation . 3rd ed. Philadelphia, PA: Elsevier Saunders; 2014:chap ...

  18. Pendred Syndrome

    MedlinePlus

    ... thyroid gland. Pendred syndrome also can affect the vestibular system, which controls balance. Some people with Pendred syndrome will show vestibular weakness when their balance is tested. However, the ...

  19. Turner Syndrome

    MedlinePlus

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

  20. Premenstrual syndrome

    MedlinePlus

    ... syndrome. Cochrane Database Syst Rev. 2009;2:CD001396. Lentz GM. Primary and secondary dysmenorrhea, premenstrual syndrome, and premenstrual dysphoric disorder: etiology, diagnosis, management. In: Lentz GM, Lobo RA, Gershenson DM, Katz VL, eds. ...

  1. Cushing syndrome

    MedlinePlus

    ... Cushing syndrome is called exogenous Cushing syndrome . Prednisone, dexamethasone, and prednisolone are examples of this type of ... Blood cortisol levels Blood sugar Saliva cortisol levels Dexamethasone suppression test 24-hour urine for cortisol and ...

  2. Cushing's Syndrome

    MedlinePlus

    ... Cushing's syndrome, also called hypercortisolism , is a rare endocrine disorder caused by chronic exposure of the body's tissues ... removing the tumor while minimizing the chance of endocrine deficiency or long-term ... for Cushing's Syndrome Clinical Trials ...

  3. Hurler syndrome

    MedlinePlus

    Hurler syndrome is a rare disease of metabolism in which a person cannot break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). Hurler syndrome belongs to a group of diseases called mucopolysaccharidosis, ...

  4. Bloom's Syndrome

    MedlinePlus

    ... Glycogen Storage Disease, Type 1A Joubert Syndrome Maple Syrup Urine Disease and DLD Mucolipidosis IV (MLIV) Nemaline ... Glycogen Storage Disease, Type 1A Joubert Syndrome Maple Syrup Urine Disease and DLD Mucolipidosis IV (MLIV) Nemaline ...

  5. Angelman Syndrome

    MedlinePlus

    ... causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when ... 202-534-3731 Prader-Willi Syndrome Association 8588 Potter Park Drive Suite 500 Sarasota, FL 34238 national@ ...

  6. Asperger syndrome

    MedlinePlus

    Asperger syndrome is often considered a high functioning form of autism. It can lead to difficulty interacting socially, repeat behaviors, and clumsiness. Asperger syndrome is a part of the larger developmental disorder ...

  7. 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. ...

  8. The first VisAO-fed integral field spectrograph: VisAO IFS

    NASA Astrophysics Data System (ADS)

    Follette, Katherine B.; Close, Laird M.; Kopon, Derek; Males, Jared R.; Gasho, Victor; Brutlag, Kevin M.; Uomoto, Alan

    2010-07-01

    We present the optomechanical design of the Magellan VisAO Integral Field Spectrograph (VisAO IFS), designed to take advantage of Magellan's AO system and its 85.1cm concave ellipsoidal Adaptive Secondary Mirror (ASM). With 585 actuators and an equal number of actively-controlled modes, this revolutionary second generation ASM will be the first to achieve moderate Strehl ratios into the visible wavelength regime. We have designed the VisAO IFS to be coupled to either Magellan's LDSS-3 spectrograph or to the planned facility M2FS fiber spectrograph and to optimize VisAO science. Designed for narrow field-of-view, high spatial resolution science, this lenslet-coupled fiberfed IFS will offer exciting opportunities for scientific advancement in a variety of fields, including protoplanetary disk morphology and chemistry, resolution and spectral classification of tight astrometric binaries, seasonal changes in the upper atmosphere of Titan, and a better understanding of the black hole M-sigma relation.

  9. Dumping Syndrome

    MedlinePlus

    ... Disease Organizations​​ (PDF, 341 KB)​​​​​ Alternate Language URL Dumping Syndrome Page Content On this page: What is ... Nutrition Points to Remember Clinical Trials What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

  10. 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…

  11. Down syndrome

    MedlinePlus

    Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. ... In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called trisomy 21. ...

  12. Oculocerebral hypopigmentation syndrome (Cross syndrome).

    PubMed

    Ozkan, H; Unsal, E; Köse, G

    1991-01-01

    A typical case of Cross syndrome with hypopigmentation, mental and psychomotor retardation, spasticity, bilateral optic atrophy and dental defects in a three-year-old boy is presented. The clinical features of this rare syndrome are discussed. PMID:1814043

  13. Testing the VLT AO facility with ASSIST

    NASA Astrophysics Data System (ADS)

    Stuik, Remko; Arsenault, Robin; Boland, Wilfried; Deep, Atul; Delabre, Bernard; Hubin, Norbert; Kolb, Johann; La Penna, Paolo; Molster, Frank; Wiegers, Emiel

    2010-07-01

    The testing and verification of ESO Very Large Telescope Adaptive Optics Facility (VLT-AOF) requires new and innovative techniques to deal with the absence of an intermediate focus on the telescope. ASSIST, The Adaptive Secondary Setup and Instrument STimulator, was developed to provide a testing facility for the ESO AOF and will allow off-telescope testing of three elements of the VLT Adaptive Optics Facility; the Deformable Secondary Mirror (DSM) and the AO systems for MUSE and HAWK-I (GALACSI and GRAAL). ASSIST will provide a full testing environment which includes an interferometric testing mode for the DSM, an on-axis testing mode with a single wavefront sensor and full operation testing modes for both the AO systems. Both natural as well as laser guide stars will be simulated under various asterisms and a realistic turbulent atmosphere will be provided for varying atmospheric conditions. ASSIST passed its final design review and is now being manufactured, integrated and tested and will be operational in mid 2011, in time for first testing with the DSM.

  14. 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.

  15. Measuring Atmospheric Dynamics on Titan with AO

    NASA Astrophysics Data System (ADS)

    Adamkovics, Mate; de Pater, I.; Hartung, M.

    2009-05-01

    The cycling of fluid methane between Titan's atmosphere and surface, via seemingly familiar meteorological phenomena, is often compared to Earth's hydrology. Near-IR observations with AO resolve the moon's 1" disk, measure spatial variation in both the surface reflectivity and scattering in the atmosphere, and constrain the methane cycle. Forward models of the atmosphere are compared to observations and used to identify and quantify sources and altitudes of atmospheric opacity; including aerosols, clouds, and precipitation. The ubiquitous submicron aerosol hazes are tracers of global stratospheric dynamics over yearly timescales. Cloud properties may constrain the tropospheric circulation and are observed to change on hourly, daily, and seasonal timescales. Here we present observations of the daily life-cycle of a cloud system, a signature of tropospheric precipitation, seasonal changes in aerosol, and discuss the models that are used to quantify the observed meteorology.

  16. Overgrowth Syndromes.

    PubMed

    Edmondson, Andrew C; Kalish, Jennifer M

    2015-09-01

    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

  17. Lutembacher's syndrome

    PubMed Central

    Kulkarni, Sandhya S.; Sakaria, Amit K.; Mahajan, Sanket K.; Shah, Kuldeep B.

    2012-01-01

    The definition of Lutembacher's syndrome has undergone many changes. It refers to combination of congenital Atrial Septal Defect with acquired mitral stenosis. Lutembacher's syndrome is a very rare disease and in the past, it has been either overdiagnosed or misdiagnosed. Here, we will discuss a case of a pregnant lady who developed breathlessness during her third trimester of pregnancy and on detailed examination and investigation, she was found to be having Lutembacher's syndrome. PMID:22629045

  18. The Magellan Telescope Adaptive Secondary AO System: a visible and mid-IR AO facility

    NASA Astrophysics Data System (ADS)

    Close, Laird M.; Gasho, Victor; Kopon, Derek; Males, Jared; Follette, Katherine B.; Brutlag, Kevin; Uomoto, Alan; Hare, Tyson

    2010-07-01

    The Magellan Clay telescope is a 6.5m Gregorian telescope located in Chile at Las Campanas Observatory. The Gregorian design allows for an adaptive secondary mirror that can be tested off-sky in a straightforward manner. We have fabricated a 85 cm diameter aspheric adaptive secondary with our subcontractors and partners, the ASM passed acceptance tests in July 2010. This secondary has 585 actuators with <1 msec response times (0.7 ms typically). This adaptive secondary will allow low emissivity AO science. We will achieve very high Strehls (~98%) in the Mid-IR (3-26 microns) with the BLINC/MIRAC4 Mid-IR science camera. This will allow the first "super-resolution" and nulling Mid-IR studies of dusty southern objects. We will employ a high order (585 mode) pyramid wavefront sensor similar to that now successfully used at the Large Binocular Telescope. The relatively high actuator count will allow modest Strehls to be obtained in the visible (0.63-1.05 μm). Moderate (~20%) Strehls have already been obtained at 0.8 μm at the LBT with the same powerful combination of a next generation ASM and Pyramid WFS as we are providing for Magellan. Our visible light AO (VisAO) science camera is fed by an advanced triplet ADC and is piggy-backed on the WFS optical board. We have designed an additional "clean-up" very fast (2 kHz) tilt stabilization system for VisAO. Also a high-speed shutter will be used to block periods of poor correction. The VisAO facility can be reconfigured to feed an optical IFU spectrograph with 20 mas spaxels. The entire system passed CDR in June 2009, and is now finished the fabrication phase and is entering the integration phase. The system science and performance requirements, and an overview the design, interface and schedule for the Magellan AO system are presented here.

  19. Sanfilippo syndrome

    MedlinePlus

    ... for families who have a child with Sanfilippo syndrome, to help them understand the condition and possible treatments. Prenatal testing is available. Alternative Names MPS III References Pyeritz ...

  20. Sheehan syndrome

    MedlinePlus

    Postpartum hypopituitarism; Postpartum pituitary insufficiency; Hypopituitarism Syndrome ... Malee MP. Pituitary and adrenal disorders in pregnancy. In: Gabbe ... Problem Pregnancies . 6th ed. Philadelphia, PA: Elsevier Mosby; ...

  1. 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.

  2. Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms

    PubMed Central

    van der Linde, Denise; Verhagen, Hence J. M.; Moelker, Adriaan; van de Laar, Ingrid M. B. H.; Van Herzeele, Isabelle; De Backer, Julie; Dietz, Harry C.; Roos-Hesselink, Jolien W.

    2014-01-01

    Objective Aneurysms-osteoarthritis syndrome (AOS), caused by SMAD3 mutations, is a recently described autosomal-dominant syndrome characterized by arterial aneurysms, tortuosity, and aortic dissections in combination with osteoarthritis. Our objective was to evaluate the AOS-related vascular consequences in the visceral and iliac arteries and raise awareness for this aggressive syndrome among vascular specialists. Methods All AOS patients were monitored regularly according to our clinical AOS protocol. The study included those with one or more visceral aneurysms or tortuosity, or both. Clinical and surgical data were obtained from record abstraction. Results The study included 17 AOS patients (47% men) aged 47 ± 13 years. A total of 73 aneurysms were encountered, of which 46 were located in the abdomen. The common iliac artery was most commonly affected (37%), followed by the superior mesenteric artery (15%), celiac trunk (11%), and splenic artery (9%). Rapid aneurysm growth ≤1 year was found in three arteries (gastric, hepatic, and vertebral artery). Furthermore, arterial tortuosity was noted in 94% of patients. Four patients underwent six elective (endo) vascular interventions for aneurysms in the iliac, hepatic, gastric, or splenic artery, without major perioperative or postoperative complications. Conclusions AOS predisposes patients to widespread visceral and iliac artery aneurysms and extreme arterial tortuosity. Early elective aneurysm repair should be considered because the risk of aneurysm rupture is estimated to be very high and elective (endo) vascular interventions were not complicated by fragility of arterial tissue. Given the aggressive behavior of AOS, it is of utmost importance that vascular specialists are aware of this new syndrome. PMID:22975338

  3. Marfan Syndrome

    MedlinePlus

    ... Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects ... A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a ...

  4. 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…

  5. Marfan Syndrome

    MedlinePlus

    ... thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with ... diagnose Marfan syndrome. Your doctor may use your medical history, family ...

  6. 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 ...

  7. 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.

  8. Low-order AO system in LAMOST

    NASA Astrophysics Data System (ADS)

    Yuan, Xiangyan; Cui, Xiangqun; Liu, Genrong; Zhang, Yong; Qi, Yongjun

    2006-06-01

    The large sky area multi-object fiber spectroscopic telescope (LAMOST) is a special reflecting Schmidt telescope with its main optical axis on the meridian plane tilted by an angle of 25° to the horizontal. The clear aperture is 4m, working in optical band. The light path is 60m long when working in observing mode and it will be doubled if work in auto-collimation mode. So the image quality is affected clearly by the ground seeing and the dome seeing. In order to improve the seeing condition of the long light path, we enclosed the spherical primary and the focus unit in a tunnel enclosure and cooled the tunnel. This is an effective but passive method. Corresponding experiments and simulations show the main part of the aberrations caused by the ground seeing and dome seeing is slowly changed low order items such as tip-tilt, defocus, astigmatism, coma and spherical aberration. Thus we plan to develop the low-order AO system based on the low-cost 37-channel OKO deformable mirror for the telescope to better the ground seeing and the dome seeing, not aimed to reach diffraction limited image. This work is being carried on now.

  9. Craniofacial Syndrome Descriptions

    MedlinePlus

    ... with this syndrome do not have a smile). Miller syndrome Miller Syndrome is very rare condition characterized by downward ... dysplasia • Hemangioma • Hemifacial Microsomia / Goldenhar syndrome • Microtia/Atresia • Miller syndrome • Moebius syndrome • Nager syndrome • Pierre Robin Sequence • ...

  10. Kounis syndrome.

    PubMed

    Ntuli, P M; Makambwa, E

    2015-10-01

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or non-vasospastic angina secondary to a hypersensitivity reaction. It was first described by Kounis and Zavras in 1991 as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and coronary artery spasm or even myocardial infarction. Since then, this condition has evolved to include a number of mast cell activation disorders associated with acute coronary syndrome. There are many triggering factors, including reactions to multiple medications, exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital organs. The incidence of this condition is difficult to establish owing to the number of potential instigating factors and its relatively infrequent documentation in the literature.We report the case of an HIV-negative 39-year-old man with no coronary risk factors or family history of premature coronary artery disease, who developed Kounis syndrome after the administration of fluoroquinolone for dysuria. However, to the best of our knowledge,no data on the incidence and prevalence of Kounis syndrome in South Africa have ever been reported in the literature. The recent understanding of Kounis syndrome has led to the condition being classified into three syndrome variants. PMID:26636160

  11. Neurocutaneous syndromes.

    PubMed

    Klar, Nitasha; Cohen, Bernard; Lin, Doris D M

    2016-01-01

    Neurocutaneous syndromes (or phakomatoses) are a diverse group of congenital disorders that encompass abnormalities of neuroectodermal and, sometimes, mesodermal development, hence commonly involving the skin, eye, and central nervous system. These are often inherited conditions and typically present in early childhood or adolescence. Some of the abnormalities and clinical symptoms may, however, be progressive, and there is an increased risk of neoplastic formation in many of the syndromes. As a group, neurocutaneous syndromes are characterized by distinctive cutaneous stigmata and neurologic symptomology, the latter often representing the most devastating and debilitating features of these diseases. Many of these syndromes are markedly heterogeneous in nature as they affect many organ systems. Given the incurable nature of these conditions and the broad spectrum of pathologies they comprise, treatments vary on a case-by-case basis and tend to be palliative rather than curative. With the advances in molecular genetics, however, greater understanding of biologic functions of the gene products and the correlative phenotypic expression is being attained, and this knowledge may guide future therapeutic developments. This chapter focuses on the cutaneous and neurologic pathology with emphasis on neuroimaging of selective neurocutaneous syndromes, including tuberous sclerosis, Sturge-Weber syndrome, Klippel-Trenaunay syndrome, ataxia-telangiectasia, and incontinentia pigmenti. PMID:27432683

  12. Hubris syndrome.

    PubMed

    Owen, David

    2008-08-01

    Hubris syndrome is associated with power, more likely to manifest itself the longer the person exercises power and the greater the power they exercise. A syndrome not to be applied to anyone with existing mental illness or brain damage. Usually symptoms abate when the person no longer exercises power. It is less likely to develop in people who retain a personal modesty, remain open to criticism, have a degree of cynicism or well developed sense of humour. Four heads of government in the last 100 years are singled out as having developed hubris syndrome: David Lloyd George, Margaret Thatcher, George W Bush and Tony Blair. PMID:18724614

  13. LEOPARD Syndrome.

    PubMed

    Ghosh, Sudip Kumar; Majumdar, Biswajit; Rudra, Olympia; Chakraborty, Sougat

    2015-10-01

    LEOPARD syndrome (LS) is an autosomal dominantly inherited or sporadic disorder of variable penetrance and expressivity. The acronym LEOPARD stands for its cardinal clinical features including Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and Deafness. We present herein a patient with LEOPARD syndrome and distinctive features. It was noteworthy that our patient presented with the concern of generalized lentiginosis and subsequent evaluation revealed that the patient had LEOPARD syndrome. In this report we would like to highlight the importance of detailed clinical examination and appropriate imaging in patients with multiple lentigines. PMID:26632807

  14. [Aarskog's syndrome].

    PubMed

    Hromádková, L; Frána, L

    1991-05-01

    The authors described the rare Aarskog syndrome in a 6-year-old boy, associated with left-sided Brown's syndrome. Another 4-year-old boy came from an affected family where the brother suffered also from Aarskog's syndrome and in the mother some microsymptoms were detected. The authors recommend that patients who on examination of a refraction defect or strabism display uncommon features in the face or other parts of the body should be always subjected to a general examination incl. genetic examination. PMID:1913912

  15. [DRESS syndrome].

    PubMed

    Adamcová, Monika; Šturdík, Igor; Koller, Tomáš; Payer, Juraj

    2016-04-01

    DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is severe drug-induced allergic-type reaction which occurs few days to weeks after taking a drug in a predisposed patient. Organ damage, eosinophilia and skin rash are typical at presentation. Corticotherapy is often necessary in severe cases. In this report we describe a case of 56-year old female with fever, elevated liver tests and skin rash. DRESS syndrome was diagnosed and allopurinol was indentified as a causative drug. Due to possible fatal outcome, DRESS syndrome should be considered in a differential diagnosis of all patients presenting with similar signs and symptoms. PMID:27250614

  16. Velocardiofacial syndrome.

    PubMed Central

    Pike, A. C.; Super, M.

    1997-01-01

    Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and present in the general population. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 PMID:9497944

  17. First closed-loop visible AO test results for the advanced adaptive secondary AO system for the Magellan Telescope: MagAO's performance and status

    NASA Astrophysics Data System (ADS)

    Close, Laird M.; Males, Jared R.; Kopon, Derek A.; Gasho, Victor; Follette, Katherine B.; Hinz, Phil; Morzinski, Katie; Uomoto, Alan; Hare, Tyson; Riccardi, Armando; Esposito, Simone; Puglisi, Alfio; Pinna, Enrico; Busoni, Lorenzo; Arcidiacono, Carmelo; Xompero, Marco; Briguglio, Runa; Quiros-Pacheco, Fernando; Argomedo, Javier

    2012-07-01

    The heart of the 6.5 Magellan AO system (MagAO) is a 585 actuator adaptive secondary mirror (ASM) with <1 msec response times (0.7 ms typically). This adaptive secondary will allow low emissivity and high-contrast AO science. We fabricated a high order (561 mode) pyramid wavefront sensor (similar to that now successfully used at the Large Binocular Telescope). The relatively high actuator count (and small projected ~23 cm pitch) allows moderate Strehls to be obtained by MagAO in the “visible” (0.63-1.05 μm). To take advantage of this we have fabricated an AO CCD science camera called "VisAO". Complete “end-to-end” closed-loop lab tests of MagAO achieve a solid, broad-band, 37% Strehl (122 nm rms) at 0.76 μm (i’) with the VisAO camera in 0.8” simulated seeing (13 cm ro at V) with fast 33 mph winds and a 40 m Lo locked on R=8 mag artificial star. These relatively high visible wavelength Strehls are enabled by our powerful combination of a next generation ASM and a Pyramid WFS with 400 controlled modes and 1000 Hz sample speeds (similar to that used successfully on-sky at the LBT). Currently only the VisAO science camera is used for lab testing of MagAO, but this high level of measured performance (122 nm rms) promises even higher Strehls with our IR science cameras. On bright (R=8 mag) stars we should achieve very high Strehls (>70% at H) in the IR with the existing MagAO Clio2 (λ=1-5.3 μm) science camera/coronagraph or even higher (~98% Strehl) the Mid-IR (8-26 microns) with the existing BLINC/MIRAC4 science camera in the future. To eliminate non-common path vibrations, dispersions, and optical errors the VisAO science camera is fed by a common path advanced triplet ADC and is piggy-backed on the Pyramid WFS optical board itself. Also a high-speed shutter can be used to block periods of poor correction. The entire system passed CDR in June 2009, and we finished the closed-loop system level testing phase in December 2011. Final system acceptance (

  18. 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

  19. Alport syndrome

    MedlinePlus

    ... 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 damaged. ...

  20. Nephrotic Syndrome

    MedlinePlus

    ... Safety Doctors & Hospitals Q&A Recipes En Español Teachers - Looking for Health Lessons? Visit KidsHealth in the ... of certain legal and illegal drugs, or morbid obesity can lead to nephrotic syndrome. Symptoms Some kids ...

  1. Klinefelter syndrome

    MedlinePlus

    ... proportions (long legs, short trunk, shoulder equal to hip size) Abnormally large breasts ( gynecomastia ) Infertility Sexual problems Less than normal amount of pubic, armpit, and facial hair Small, firm testicles Tall height Exams and Tests Klinefelter syndrome may first be ...

  2. [Sneddon syndrome].

    PubMed

    Berchtold, B; Hunziker, T; Zala, L; Braathen, L R

    1991-05-01

    A 44-year-old female with Sneddon's syndrome, i.e. generalized racemose livedo and recurrent cerebrovascular disease, is presented. Significant levels of IgG anticardiolipin antibodies were found in her serum. PMID:1874623

  3. Proteus Syndrome

    MedlinePlus

    Our Blog Newsletter Home About Us The PSF Provides Board of Directors Medical Advisory Board International Affiliates Proteus Syndrome Diagnostic Criteria & FAQs Medical Research Glossary Donate Cash Donation Life Insurance Gift ...

  4. Metabolic Syndrome

    MedlinePlus

    ... cause of metabolic syndrome. The cause might be insulin resistance. Insulin is a hormone your body produces to help ... into energy for your body. If you are insulin resistant, too much sugar builds up in your ...

  5. Wallenberg's Syndrome

    MedlinePlus

    ... Some people with Wallenberg’s syndrome report that the world seems to be tilted in an unsettling way, which makes it difficult to keep their balance when they walk. Is there any treatment? Treatment ...

  6. Scheie syndrome

    MedlinePlus

    ... for families who have a child with Scheie syndrome, to help them understand the condition and possible treatments. Prenatal testing is available. Alternative Names Mucopolysaccharidosis type I S; MPS ...

  7. Apert syndrome

    MedlinePlus

    ... by ridging along sutures (craniosynostosis) Frequent ear infections Fusion or severe webbing of the 2nd, 3rd, and ... midface Skeletal (limb) abnormalities Short height Webbing or fusion of the toes Several other syndromes can lead ...

  8. Alport Syndrome

    MedlinePlus

    ... medicines (medications to control high blood pressure) Diuretics (water pills) Limit sodium (salt) in your diet If you are approaching kidney disease because of Alport syndrome, a ... NY Register Now 2016 Orangeburg Kidney Walk Thu, ...

  9. 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 ...

  10. 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

  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. Paraneoplastic Syndromes

    MedlinePlus

    ... used to determine effective treatment strategies. NIH Patient Recruitment for Paraneoplastic Syndromes Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 American Autoimmune Related Diseases Association 22100 ...

  13. Paraneoplastic Syndromes

    PubMed Central

    Stolinsky, David C.

    1980-01-01

    Neoplasms can produce a variety of remote effects on the host; these are referred to as paraneoplastic syndromes. The syndromes may affect any of the systems of the body, may precede or follow the diagnosis of the underlying neoplasm, and may or may not parallel the course of the neoplasm in severity. The diagnosis of and therapy for these syndromes can be challenging to a physician, but successful therapy may bring about worthwhile relief for the patient. In addition, the syndromes and the substances that cause them are sometimes useful in diagnosing and in following the course of certain neoplasms. Perhaps of greater importance, study of these remote effects of neoplasia may shed light on the nature of the neoplastic process itself. PMID:6990627

  14. 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 ...

  15. Malabsorption Syndromes

    MedlinePlus

    ... They often include chronic diarrhea, abnormal stools, weight loss, and gas. Your doctor may use lab, imaging, or other tests to make a diagnosis. Treatment of malabsorption syndromes depends on the cause.

  16. Compartment syndrome

    MedlinePlus

    ... caused by repetitive activities, such as running. The pressure in a compartment only increases during that activity. Compartment syndrome is most common in the lower leg and forearm. It can also occur in the hand, foot, thigh, and upper arm.

  17. Sotos Syndrome

    MedlinePlus

    ... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Sotos Syndrome Information ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

  18. Down Syndrome

    MedlinePlus

    ... or problems with their heart, stomach or eyes. Intelligence ranges from low normal to very retarded (slow ... a baby who has Down syndrome will be. Intelligence ranges from low normal to very retarded (slow ...

  19. Compartment syndrome

    MedlinePlus

    ... Jobe MT. Compartment syndromes and Volkmann contracture. In: Canale ST, Beaty JH, eds. Campbell's Operative Orthopaedics . 12th ed. ... and Shoulder Service, UCSF Department of Orthopaedic Surgery, San Francisco, CA. Also reviewed by David Zieve, MD, MHA, ...

  20. 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- ...

  1. Reifenstein syndrome

    MedlinePlus

    ... with the gene will be affected. Every female child has a 50% chance of carrying the gene. Family history is important in determining risk factors. The syndrome is estimated to affect 1 in 99,000 people.

  2. [DIDMOAD syndrome].

    PubMed

    Alicanoğlu, R; Canbakan, B; Yildiz, N; Arikan, E; Kundur, H; Bahtiyar, K; Sayali, E

    1994-01-01

    The DIDMOAD or so called Wolfram syndrome is a hereditary disease with autosomal-recessive transmission showing 4 main features: diabetes mellitus, diabetes insipidus, nervus opticus atrophia and deafness. Beside this it shows multiple organ involvement. Our 38-year old male patient, showing all above mentioned features except deafness had urinary tract involvement and neurological symptoms. EEG, cerebral MRI, tests with evoked potentials and HLA-typing were performed to discuss the aetiopathogenetic background in our patient. Almost all symptoms of the Wolfram syndrome can be mixed up with complications of diabetes mellitus, which is usually the first symptom of the Wolfram syndrome. Because of this, wrong diagnosis is not rare. Hence in differential diagnosis in any diabetes mellitus type I patient, the possibility of the Wolfram syndrome should be discussed. PMID:8023526

  3. 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 ...

  4. Piriformis syndrome

    MedlinePlus

    ... sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... or numbness in the buttock and along the back of the leg Difficulty sitting Pain from sitting that grows worse as you continue ...

  5. 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 ...

  6. Waardenburg syndrome

    MedlinePlus

    ... conditions passed down through families. The syndrome involves deafness and pale skin, hair, and eye color. ... Symptoms may include: Cleft lip (rare) Constipation Deafness (more ... that don't match ( heterochromia ) Pale color skin, hair, and ...

  7. Aase syndrome

    MedlinePlus

    Aase-Smith syndrome; Hypoplastic anemia - triphalangeal thumbs, Aase-Smith type ... Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation . 7th ed. Philadelphia, ...

  8. 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, ...

  9. Hunter syndrome

    MedlinePlus

    Genetic counseling is recommended for couples who want to have children and who have a family history of Hunter syndrome. Prenatal testing is available. Carrier testing for female relatives of affected males is available at a few centers.

  10. Down syndrome

    MedlinePlus

    ... their limitations, they may also feel frustration and anger. Many different medical conditions are seen in people ... syndrome and their families deal with the frustration, anger, and compulsive behavior that often occur. Parents and ...

  11. Sanfilippo syndrome

    MedlinePlus

    ... syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS III. ... PA: Elsevier Saunders; 2015:chap 260. Spranger J. Mucopolysaccharidoses. In: Kliegman RM, Behrman RE, Jenson HB, Stanton ...

  12. [Heptopulmonary syndrome].

    PubMed

    Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. PMID:25840463

  13. Joubert Syndrome

    MedlinePlus

    ... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Joubert Syndrome Information ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

  14. 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 ...

  15. Klinefelter Syndrome

    MedlinePlus

    ... Text Search" box. Then click "Submit Query". Organizations Organizations Listen Nonprofit support and advocacy groups bring together ... endorsement by GARD. Suggest an organization to add. Organizations Supporting this Disease American Association for Klinefelter Syndrome ...

  16. [Netherton syndrome].

    PubMed

    Serra-Guillén, Carlos; Torrelo, Antonio; Drake, Marta; Armesto, Susana; Fernández-Llaca, Héctor; Zambrano, Antonio

    2006-06-01

    Netherton syndrome is a rare disease inherited as an autosomal recessive trait due to mutations in the SPINK5 gene. It is characterized by the triad of ichthyosiform dermatosis, alterations of the hair shaft and immunological disorders. We present the case of a 12-year-old girl with the triad of ichthyosis linearis circumflexa, trichorrhexis invaginata and atopic dermatitis, characteristic of Netherton syndrome. PMID:16956571

  17. Noonan syndrome

    PubMed Central

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

    2014-01-01

    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. PMID:23312968

  18. 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.

  19. Alagille syndrome.

    PubMed Central

    Krantz, I D; Piccoli, D A; Spinner, N B

    1997-01-01

    Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac malformations (most frequently peripheral pulmonary stenosis), ophthalmological abnormalities (typically of the anterior chamber with posterior embryotoxon being the most common), skeletal anomalies (most commonly butterfly vertebrae), and characteristic facial appearance. Inheritance is autosomal dominant, but expressivity is highly variable. Sibs and parents of probands are often found to have mild expression of the presumptive disease gene, with abnormalities of only one or two systems. The frequency of new mutations appears relatively high, estimated at between 15 and 50%. The disease gene has been mapped to chromosome 20 band p12 based on multiple patients described with cytogenetic or molecular rearrangements of this region. However, the frequency of detectable deletions of 20p12 is low (less than 7%). Progress has been made in the molecular definition of an Alagille syndrome critical region within the short arm of chromosome 20. We will review the clinical, genetic, cytogenetic, and molecular findings in this syndrome. Images PMID:9039994

  20. Cri du chat syndrome

    MedlinePlus

    ... syndrome who wish to become pregnant may consider genetic counseling. Alternative Names Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome References Bacino CA, Lee B. Cytogenetics. ...

  1. Holmes-Adie Syndrome

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Holmes-Adie syndrome Information Page Synonym(s): Adie's Syndrome, Adie's ... research is being done? Clinical Trials What is Holmes-Adie syndrome ? Holmes-Adie syndrome (HAS) is a ...

  2. Anesthesia & Down Syndrome

    MedlinePlus

    ... occur in individuals with Down syndrome than their peers without Down syndrome. An awareness of these more ... of the eyes, ears, and joints - just like peers without Down syndrome. What About Down Syndrome Is ...

  3. Hyperimmunoglobulin E syndrome

    MedlinePlus

    Job syndrome; Hyper IgE syndrome ... Hyperimmunoglobulin E syndrome is also called Job syndrome. It is named after the biblical character Job whose faithfulness was tested by an affliction with draining skin sores and pustules . ...

  4. Androgen insensitivity syndrome

    MedlinePlus

    ... at the tip Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome) Infertile male syndrome ... F, Leveno KJ, Bloom SL, et al., eds. Williams Obstetrics . 23rd ed. New York, NY: McGraw-Hill, ...

  5. Sexuality and Down Syndrome

    MedlinePlus

    ... Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q&A for Kids Resources New & Expectant ... Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q&A for Kids Resources New & Expectant ...

  6. Tics and Tourette Syndrome

    MedlinePlus

    MENU Return to Web version Tics and Tourette Syndrome Overview What is Tourette syndrome? Tourette syndrome is a type of tic disorder. Children who have Tourette syndrome will repeat both movements and ...

  7. Down Syndrome (For Kids)

    MedlinePlus

    ... Got Homework? Here's Help White House Lunch Recipes Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  8. 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.

  9. 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.

  10. Why Metabolic Syndrome Matters

    MedlinePlus

    ... Pressure Tools & Resources Stroke More Why Metabolic Syndrome Matters Updated:Jul 24,2014 Metabolic syndrome may be ... Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • Your Risk for Metabolic Syndrome • Symptoms & Diagnosis • Prevention & ...

  11. Reproducibility of the Tronzo and AO classifications for transtrochanteric fractures☆

    PubMed Central

    Mattos, Carlos Augusto; Jesus, Alexandre Atsushi Koza; Floter, Michelle dos Santos; Nunes, Luccas Franco Bettencourt; Sanches, Bárbara de Baptista; Zabeu, José Luís Amim

    2015-01-01

    Objective To analyze the reproducibility of the Tronzo and AO classifications for transtrochanteric fractures. Method This was a cross-sectional study in which the intraobserver and interobserver concordance between two readings made by 11 observers was analyzed. The analysis of the variations used the kappa statistical method. Results Moderate concordance was found in relation to the AO classification, while slight concordance was found for the Tronzo classification. Conclusion This study found that the AO/Asif classification for transtrochanteric presented greater intra and interobserver reproducibility and that greater concordance was correlated with greater experience of the observers. Without division into subgroups, the AO/Asif classification was shown, as described in the literature, to be acceptable for clinical use in relation to transtrochanteric fractures of the femur, although it did not show absolute concordance, given that its concordance level was only moderate. Nonetheless, its concordance was better than that of the Tronzo classification. PMID:26535193

  12. 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

  13. 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.

  14. Antiphospholipid syndrome.

    PubMed

    Ruiz-Irastorza, Guillermo; Crowther, Mark; Branch, Ware; Khamashta, Munther A

    2010-10-30

    The antiphospholipid syndrome causes venous, arterial, and small-vessel thrombosis; pregnancy loss; and preterm delivery for patients with severe pre-eclampsia or placental insufficiency. Other clinical manifestations are cardiac valvular disease, renal thrombotic microangiopathy, thrombocytopenia, haemolytic anaemia, and cognitive impairment. Antiphospholipid antibodies promote activation of endothelial cells, monocytes, and platelets; and overproduction of tissue factor and thromboxane A2. Complement activation might have a central pathogenetic role. Of the different antiphospholipid antibodies, lupus anticoagulant is the strongest predictor of features related to antiphospholipid syndrome. Therapy of thrombosis is based on long-term oral anticoagulation and patients with arterial events should be treated aggressively. Primary thromboprophylaxis is recommended in patients with systemic lupus erythematosus and probably in purely obstetric antiphospholipid syndrome. Obstetric care is based on combined medical-obstetric high-risk management and treatment with aspirin and heparin. Hydroxychloroquine is a potential additional treatment for this syndrome. Possible future therapies for non-pregnant patients with antiphospholipid syndrome are statins, rituximab, and new anticoagulant drugs. PMID:20822807

  15. 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. PMID:26897561

  16. A Large-Telescope Natural Guide Star AO System

    NASA Technical Reports Server (NTRS)

    Redding, David; Milman, Mark; Needels, Laura

    1994-01-01

    None given. From overview and conclusion:Keck Telescope case study. Objectives-low cost, good sky coverage. Approach--natural guide star at 0.8um, correcting at 2.2um.Concl- Good performance is possible for Keck with natural guide star AO system (SR>0.2 to mag 17+).AO-optimized CCD should b every effective. Optimizing td is very effective.Spatial Coadding is not effective except perhaps at extreme low light levels.

  17. Lemierre's syndrome.

    PubMed

    Eilbert, Wesley; Singla, Nitin

    2013-01-01

    Lemierre's syndrome is a condition characterized by thrombophlebitis of the internal jugular vein and bacteremia caused by primarily anaerobic organisms, following a recent oropharyngeal infection. This has been an uncommon illness in the era of antibiotic therapy, though it has been reported with increasing frequency in the past 15 years. Lemierre's syndrome should be suspected in young healthy patients with prolonged symptoms of pharyngitis followed by symptoms of septicemia or pneumonia, or an atypical lateral neck pain. Diagnosis is often confirmed by identification of thrombophlebitis of the internal jugular vein and growth of anaerobic bacteria on blood culture. Treatment involves prolonged antibiotic therapy occasionally combined with anticoagulation. We review the literature and a case of a child with Lemierre's syndrome. PMID:24152679

  18. 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.

  19. [Kallmann syndrome].

    PubMed

    Mokosch, A; Bernecker, C; Willenberg, H S; Neumann, N J

    2011-10-01

    The Kallmann syndrome is a very rare congenital association of gonadotropin-releasing hormone deficiency and hyposmia or anosmia. Clinically it is characterized by low serum concentrations of testosterone and inadequate low levels of luteinizing hormone and follicle-stimulating hormone as well as incomplete sexual maturation, lack of secondary sexual features (facial and body hair growth, deepening of the voice), micropenis and sometimes even cryptorchidism. The reduced or absent sense of smell is typical for the Kallmann syndrome and distinguishes this syndrome from other causes of hypogonadotropic hypogonadism. Additional findings may include synkinesia, hearing loss, unilateral renal aplasia, brachy- or syndactyly, agenesis of corpus callosum, cleft palate and dental agenesis. A 19-year-old man presented to our male infertility clinic with delayed sexual maturation, eunuchoid habitus, micropenis, cryptorchidism, erectile dysfunction and absence of ejaculation, anemia and osteoporosis as well as low serum concentrations of luteinizing hormone, follicle-stimulating hormone and testosterone in combination with hyposmia. PMID:21918848

  20. SAPHO syndrome.

    PubMed

    Cotten, A; Flipo, R M; Mentre, A; Delaporte, E; Duquesnoy, B; Chastanet, P

    1995-09-01

    Palmoplantar pustulosis and severe acne are sometimes associated with peculiar aseptic skeletal conditions, but such skeletal lesions can be found without skin lesions. The term SAPHO syndrome has been coined for this cluster of manifestations. (The acronym SAPHO refers to synovitis, acne, palmoplantar pustulosis, hyperostosis, and osteitis.) The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. Osteosclerosis of the vertebral bodies, hyperostosis, and erosions of the vertebral plates can be encountered. Unilateral sacroiliitis is frequently observed. Long bone involvement consists of osteosclerosis or osteolysis with periosteal new bone formation. Peripheral arthritis can be present but is rarely associated with joint destruction. The pathogenesis of this syndrome remains unknown, but a link with seronegative spondyloarthropathies is probable. Radiologists should be aware of this unusual syndrome to avoid misdiagnosis (eg, tumor, infection), unnecessary surgery, and antibiotic therapy. PMID:7501856

  1. 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

  2. [Eisenmenger syndrome].

    PubMed

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G; Hansen, Peter Bo; Søndergaard, Lars

    2009-04-01

    Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right-to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. PMID:19416617

  3. 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.…

  4. Metabolic Syndrome

    MedlinePlus

    ... If you already have metabolic syndrome, making these healthy lifestyle choices can help reduce your risk of heart disease and other health problems. If lifestyle changes alone can’t control your ... to help. Maintain a healthy weight Your doctor can measure your body mass ...

  5. Reye's Syndrome

    MedlinePlus

    ... diagnosis and medical treatment of RS. NIH Patient Recruitment for Reye's Syndrome Clinical Trials At NIH Clinical ... Drug Administration (FDA) U.S. Department of Health and Human Services 5600 Fishers Lane, CDER-HFD-240 Rockville, MD ... Privacy Statement NIH...Turning Discovery Into Health ®

  6. Metabolic Syndrome

    MedlinePlus

    ... from Nemours for Parents for Kids for Teens Teens Home Body Mind Sexual Health Food & Fitness Diseases & Conditions Infections Q&A School & Jobs Drugs & Alcohol Staying Safe Recipes En Español Making a Change – Your Personal Plan Hot ... > Metabolic Syndrome Print A A A Text Size ...

  7. Dubowitz syndrome.

    PubMed

    Wilhelm, O L; Méhes, K

    1986-01-01

    Four children including two siblings with Dubowitz syndrome are presented. All four were preterm or small-for-dates. On the basis of their symptoms, it is suggested that infantile eczema is not an essential sign of the disorder, whereas the high frequency of hernia, strabism and upward slant of the palpebral fissures is underestimated in the literature. PMID:3730185

  8. Tourette Syndrome

    MedlinePlus

    ... is also possible that many genes with smaller effects and environmental factors may play a role in the development ... Publication No. 12-2163 Back to Tourette Syndrome Information Page See a list ... by: Office of Communications and Public Liaison National Institute of Neurological Disorders ...

  9. HELLP syndrome

    MedlinePlus

    ... get worse and be harmful to both the mother and child. Your health care provider may induce labor by ... treatment, a small number of women die. The death rate among babies born to mothers with HELLP syndrome depends on birth weight and ...

  10. Rett Syndrome

    MedlinePlus

    ... binding protein 2 (MeCP2), which is needed for brain development and acts as one of the many biochemical ... the following criteria do not have Rett syndrome: brain injury secondary to ... abnormal psychomotor development in the first 6 months of life. Is ...

  11. Tourette Syndrome

    MedlinePlus

    ... organizations can help kids learn how to explain tics to others. How Should I Act Around Someone Who Has It? Kids who have Tourette syndrome want to be treated like everybody else. They can do regular stuff, just like other kids. In fact, Tim Howard grew up to be a soccer star. ...

  12. [Refeeding syndrome].

    PubMed

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it. PMID:27088791

  13. [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. PMID:25260820

  14. Morquio syndrome

    MedlinePlus

    ... Hearing test Slit-lamp eye exam Skin fibroblast culture X-rays of the long bones, ribs, and spine People with Morquio syndrome should have MRI of the lower skull and upper neck to determine if their upper vertebrae are underdeveloped.

  15. Sotos syndrome

    PubMed Central

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

    Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. During the neonatal period, therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection

  16. 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

  17. 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…

  18. Burning mouth syndrome and other oral sensory disorders: a unifying hypothesis.

    PubMed

    Grushka, Miriam; Epstein, Joel B; Gorsky, Meir

    2003-01-01

    Burning Mouth Syndrome (BMS) is a sensory disorder which results in constant, bilateral burning pain of the tongue, lips, and other oral mucous membranes. Atypical odontalgia (AO) is another sensory disorder, usually defined as a toothache-like pain for which no dental cause can be identified. Previous literature has suggested that AO is often associated with a concomitant temporomandibular disorder (TMD). This hypothesis paper explores the possibility that BMS, AO and TMD can be related through hyperactivity of both the sensory and motor components of the trigeminal nerve following loss of central inhibition as a result of taste damage in the chorda tympani and/or the glossopharyngeal nerves. PMID:14657979

  19. 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.

  20. 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.

  1. [SAPHO syndrome].

    PubMed

    Chamot, A M; Kahn, M F

    1994-01-01

    The occurrence of musculoskeletal manifestations (including synovitis, chest wall arthroosteitis and multifocal osteomyelitis) in association with severe acne, palmoplantar pustulosis and perhaps with some presentations of psoriasis, have been described by many authors in the past 30 years. These different multifaceted descriptions have been designated by a variety of terms. More recently, a possible link between these conditions and spondarthritides has also been underlined by a slightly increased prevalence of HLA B27 and occasional occurrences of sacroiliitis, chronic inflammatory bowel disease and possibly psoriasis. An acronym, the SAPHO syndrome (which stands for Synovitis, Acne, Pustulosis Hyperostosis and Osteitis) is proposed for this group of diseases because of the similarity of musculoskeletal manifestations in patients with severe acne and pustulosis. The clinical, epidemiological, pathophysiological, immunogenetic and diagnostic aspects, as well as the management of this syndrome are reviewed. PMID:7975935

  2. 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.

  3. 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…

  4. Brachycephalic Syndrome.

    PubMed

    Dupré, Gilles; Heidenreich, Dorothee

    2016-07-01

    Animals presenting with brachycephalic syndrome suffer from multilevel obstruction of the airways as well as secondary structural collapse. Stenotic nares, aberrant turbinates, nasopharyngeal collapse, soft palate elongation and hyperplasia, laryngeal collapse, and left bronchus collapse are being described as the most common associated anomalies. Rhinoplasty and palatoplasty as well as newer surgical techniques and postoperative care strategies have resulted in significant improvement of the prognosis even in middle-aged dogs. PMID:27012936

  5. Brugada Syndrome

    PubMed Central

    ANTZELEVITCH, CHARLES

    2007-01-01

    First introduced as a new clinical entity in 1992, the Brugada syndrome is associated with a relatively high risk of sudden death in young adults, and occasionally in children and infants. Recent years have witnessed a striking proliferation of papers dealing with the clinical and basic aspects of the disease. Characterized by a coved-type ST-segment elevation in the right precordial leads of the electrocardiogram (ECG), the Brugada syndrome has a genetic basis that thus far has been linked only to mutations in SCN5A, the gene that encodes the α-subunit of the sodium channel. The Brugada ECG is often concealed, but can be unmasked or modulated by a number of drugs and pathophysiological states including sodium channel blockers, a febrile state, vagotonic agents, tricyclic antidepressants, as well as cocaine and propranolol intoxication. Average age at the time of initial diagnosis or sudden death is 40 ± 22, with the youngest patient diagnosed at 2 days of age and the oldest at 84 years. This review provides an overview of the clinical, genetic, molecular, and cellular aspects of the Brugada syndrome, incorporating the results of two recent consensus conferences. Controversies with regard to risk stratification and newly proposed pharmacologic strategies are discussed. PMID:17038146

  6. Roberts syndrome

    PubMed Central

    Xu, Baoshan; Lu, Shuai; Gerton, Jennifer L

    2014-01-01

    All living organisms must go through cycles of replicating their genetic information and then dividing the copies between two new cells. This cyclical process, in cells from bacteria and human alike, requires a protein complex known as cohesin. Cohesin is a structural maintenance of chromosomes (SMC) complex. While bacteria have one form of this complex, yeast have several SMC complexes, and humans have at least a dozen cohesin complexes alone. Therefore the ancient structure and function of SMC complexes has been both conserved and specialized over the course of evolution. These complexes play roles in replication, repair, organization, and segregation of the genome. Mutations in the genes that encode cohesin and its regulatory factors are associated with developmental disorders such as Roberts syndrome, Cornelia de Lange syndrome, and cancer. In this review, we focus on how acetylation of cohesin contributes to its function. In Roberts syndrome, the lack of cohesin acetylation contributes to nucleolar defects and translational inhibition. An understanding of basic SMC complex function will be essential to unraveling the molecular etiology of human diseases associated with defective SMC function. PMID:25054091

  7. Acrodysostosis syndromes.

    PubMed

    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

  8. 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 ...

  9. 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. ...

  10. Hyperimmunoglobulin E syndrome

    MedlinePlus

    Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes problems with the skin, sinuses, lungs, bones, and teeth. ... Hyperimmunoglobulin E syndrome is also called Job syndrome. It is named after the biblical character Job whose faithfulness was ...

  11. National Down Syndrome Society

    MedlinePlus

    donate Entire Site Down Syndrome Resources Ways to Give #DSWORKS™ Buddy Walk® Advocacy About NDSS The National Advocate for People with Down Syndrome Since 1979 National Down Syndrome Society 8 E ...

  12. Genetic obesity syndromes.

    PubMed

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome. PMID:18230893

  13. 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 ...

  14. Tethered Spinal Cord Syndrome

    MedlinePlus

    ... Enhancing Diversity Find People About NINDS NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

  15. Heart and Down Syndrome

    MedlinePlus

    ... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

  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. Apple fruit copper amine oxidase isoforms: peroxisomal MdAO1 prefers diamines as substrates, whereas extracellular MdAO2 exclusively utilizes monoamines.

    PubMed

    Zarei, Adel; Trobacher, Christopher P; Cooke, Alison R; Meyers, Ashley J; Hall, J Christopher; Shelp, Barry J

    2015-01-01

    4-Aminobutyrate (GABA) accumulates in apple fruit during controlled atmosphere storage. A potential source of GABA is the polyamine putrescine, which can be oxidized via copper-containing amine oxidase (CuAO), resulting in the production 4-aminobutanal/Δ(1)-pyrroline, with the consumption of O2 and release of H2O2 and ammonia. Five putative CuAO genes (MdAO genes) were cloned from apple (Malus domestica Borkh. cv. Empire) fruit, and the deduced amino acid sequences found to contain the active sites typically conserved in CuAOs. Genes encoding two of these enzymes, MdAO1 and MdAO2, were highly expressed in apple fruit and selected for further analysis. Amino acid sequence analysis predicted the presence of a C-terminal peroxisomal targeting signal 1 tripeptide in MdAO1 and an N-terminal signal peptide and N-glycosylation site in MdAO2. Transient expression of green fluorescent fusion proteins in Arabidopsis protoplasts or onion epidermal cells revealed a peroxisomal localization for MdAO1 and an extracellular localization for MdAO2. The enzymatic activities of purified recombinant MdAO1 and MdAO2 were measured continuously as H2O2 production using a coupled reaction. MdAO1 did not use monoamines or polyamines and displayed high catalytic efficiency for 1,3-diaminopropane, putrescine and cadaverine, whereas MdAO2 exclusively utilized aliphatic and aromatic monoamines, including 2-phenylethylamine and tyramine. Together, these results indicate that MdAO1 may contribute to GABA production via putrescine oxidation in the peroxisome of apple fruit under controlled atmosphere conditions. MdAO2 seems to be involved in deamination of 2-phenylethylamine, which is a step in the biosynthesis of 2-phenylethanol, a contributor to fruit flavor and flower fragrance. PMID:25378687

  18. Do you know this syndrome? Noonan syndrome.

    PubMed

    Kondo, Rogerio Nabor; Martins, Ligia Márcia Mario; Lopes, Vivian Cristina Holanda; Bittar, Rodrigo Antonio; Araújo, Fernanda Mendes

    2013-01-01

    Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability. PMID:24068150

  19. Inherited ichthyosis: Syndromic forms.

    PubMed

    Yoneda, Kozo

    2016-03-01

    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis. PMID:26945533

  20. Acute nephritic syndrome

    MedlinePlus

    Glomerulonephritis - acute; Acute glomerulonephritis; Nephritis syndrome - acute ... Acute nephritic syndrome is often caused by an immune response triggered by an infection or other disease. Common causes ...

  1. Morvan Syndrome

    PubMed Central

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  2. Mazabraud syndrome

    PubMed Central

    John, Anulekha Mary; Behera, Kishore Kumar; Mathai, Thomas; Parmar, Harshad; Paul, Thomas V.

    2013-01-01

    A 25 year old lady presented with pain and swelling of left thigh. On examination she was found to have tenderness of left femur with a separate soft tissue swelling within the thigh muscle. Further evaluation revealed expansile bony lesion on X-ray of left tibia and multiple hot spots on bone scan suggestive of fibrous dysplasia. The soft tissue swelling on excision and histopathological examination was found to be intramuscular myxoma. The combination of the above two, called Mazabraud syndrome is being reported. PMID:23961498

  3. [Ascher's syndrome].

    PubMed

    Halling, F; Sandrock, D; Merten, H A; Hönig, J F

    1991-01-01

    Ascher's syndrome is composed of the triad blepharochalasis, double lip and goitre. In many of the cases reported in the literature this typical constellation of symptoms is not complete; particularly the struma is not mandatorily involved. A 58-year-old patient with this rare disease who exhibited blepharochalasis and double upper and lower lip is presented. Additionally, subclinical hypothyroidism and alopecia areata totalis were found. In differential diagnosis other causes of double lips or enlargement of the lips must be considered. PMID:1817784

  4. [Piriformis syndrome].

    PubMed

    Erauso, Thomas; Pégorie, Anne; Gaveau, Yves-Marie; Tardy, Dominique

    2010-09-20

    Sciatic pain is often misleading and establishing the link with a local muscular cause can be difficult and lead to errors, especially when faced with a young sportsman, with typical discogenic pain. Simple, specific and reproducible tests enable a better identification and treatment of a muscular cause or canal syndrome. Physiotherapy, or local infiltrations are generally very efficient, and sufficient. Surgery may be considered only in a very limited number of cases, lack of response to the first line treatment and then only if it is the absolute diagnosis, diagnosis which must remain a diagnosis of exception, more so of exclusion. PMID:21033479

  5. Griscelli syndrome.

    PubMed

    Ariffin, H; Geikowski, A; Chin, T F; Chau, D; Arshad, A; Abu Bakar, K; Krishnan, S

    2014-08-01

    We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This nonsense mutation causes premature truncation of the protein resulting in a dysfunctional RAB27A. Recognition of GS allows appropriate institution of therapy namely chemotherapy for HLH and curative haemotopoeitic stem cell transplantation. PMID:25500851

  6. Ortner's syndrome

    PubMed Central

    Shahul, Hameed Aboobackar; Manu, Mohan K; Mohapatra, Aswini Kumar; Magazine, Rahul

    2014-01-01

    A 42-year-old man with a significant smoking history presented with chronic expectorative cough and exertional shortness of breath with recent-onset hoarseness. Chest examination was essentially normal and cardiovascular examination was suggestive of aortic regurgitation. Ears, nose and throat evaluation showed left vocal cord palsy and CT scan revealed an aortic arch aneurysm. Ortner's syndrome refers to hoarseness due to recurrent laryngeal nerve palsy secondary to a cardiovascular abnormality. Aortic aneurysms usually present with chest pain, back pain or epigastric pain, depending on the site of the aneurysm. An aortic arch aneurysm presenting as hoarseness is extremely rare. PMID:24618861

  7. 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

  8. Tourette Syndrome

    PubMed Central

    Murray, T. J.

    1982-01-01

    Tourette syndrome (Gilles de la Tourette disease) is a disorder of involuntary muscular tics, vocalizations and compulsive behavior. The tics and muscle movements vary in form and course; the complex repetitive patterns are eventually replaced by other patterns. The vocalization may be in the form of sounds, words or profanities and sometimes echolalia, echopraxia and palilalia. The onset may be from age two to 15 but is usually between ages eight and 12. Recent studies suggest that there is a hypersensitivity of dopamine receptors. Most patients respond well to haloperidol, but other drugs that may be of value include clonidine, pimozide, fluphenazine and trifluoroperazine. PMID:21286050

  9. Holocene Evolution of Qing'ao Embayment, Southern China

    NASA Astrophysics Data System (ADS)

    Switzer, A. D.; Yu, F.; Chen, B.; Zheng, Z.; Wang, D.

    2012-12-01

    The Holocene evolution of the Qing'ao embayment, Nan'ao Island, southern China, is primarily the result of the interaction of tectonic activity, climate variation and changes in relative sea level. Characterizing the evolutionary history of the relatively small Qing'ao embayment during the Holocene will help improve our understanding of the driving mechanisms of coastal evolution in the area. To reconstruct the Holocene evolution history we analyzed the grain size, loss on ignition (LOI) and carbonate content of modern and core samples. Modern environmental analogs were examined in surface samples ranging from the coastal sand dunes through to offshore. The results of these modern samples suggest that dune sand (mean size of ~2.33Phi) are slightly finer than beach sand (mean size of 2.13Phi), and nearshore sediment is much coarser than offshore sediment (mean size of 5.90Phi). This modern analogs were then applied to 8 percussion cores from the Qing'ao embayment. A chronological framework obtained from 11 radiocarbon samples suggests that the embayment started to accept deposition since early Holocene, ~8500 cal. yr. BP. Three main phases of Holocene evolution were identified. A basin wide shell-rich sand sheet forms the basal Holocene facies and overlies clay rich presumably Pleistocene sediments or bedrock. This facies records an initial sedimentation phase associated with the early Holocene transgression into the embayment (~8500-6000 cal. yr. BP). The basal facies grades upward to a mixed sandy-mud facies which includes lagoonal clayey-silts, flood tide delta sands and records an estuarine phase lasting from ~6000-1000 cal. yr. BP that appears coincident with falling regional sea levels. Coincident with the estuarine phase is a period of coastal dune building recorded as yet undated massive sands that are found in the upper fill. Toward the end of the estuarine phase it is apparent that dune migration has restricted the lagoon entrance and that this was

  10. Myasthenic syndromes.

    PubMed

    Farrugia, M E

    2011-03-01

    The neuromuscular junction is vulnerable to autoimmune attack both at the pre-synaptic nerve terminal and at the post-synaptic muscle membrane. Antibodies directed to the nicotinic acetylcholine receptor at the muscle surface are the cause of myasthenia gravis in the majority of cases. Myasthenia gravis is an acquired condition, characterised by weakness and fatigability of the skeletal muscles. The ocular muscles are commonly affected first, but the disease often generalises. Treatment includes symptom control and immunosuppression. The thymus gland plays an important role in the pathogenesis of myasthenia gravis and thymectomy is indicated in certain subgroups. Lambert-Eaton myasthenic syndrome is associated with antibodies directed to the voltage-gated calcium channel antibodies at the pre-synaptic nerve terminal. It is an acquired condition and, in some cases, may be paraneoplastic, often secondary to underlying small cell lung carcinoma. Clinical presentation is distinct from myasthenia gravis, with patients often first presenting with lower limb muscle fatigability and autonomic symptoms. Congenital myasthenic syndromes are inherited neuromuscular disorders due to mutations in proteins at the neuromuscular junction. Various phenotypes exist depending on the protein mutation. Treatment is directed towards symptom control and immunosuppression is not indicated. PMID:21365067

  11. 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. PMID:9645824

  12. Fragile X syndrome

    MedlinePlus

    Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1 . A small part of the gene ... to affect them more severely. You can have fragile X syndrome even if your parents do not have it. ...

  13. Acute Respiratory Distress Syndrome in Lemierre's Syndrome

    PubMed Central

    Hein, Paul N.; Soghikian, Maida V.; Bhangoo, Munveer S.

    2014-01-01

    Lemierre's syndrome is an infectious disease defined by the presence of septic thrombophlebitis with associated embolic phenomenon, most commonly to the lungs. Here we present two cases from a single institution of acute respiratory distress syndrome (ARDS) developing as a result of Lemierre's syndrome in previously healthy young adult men. ARDS can occur as a consequence of pulmonary septic emboli and sepsis, both of which are well-described consequences of Lemierre's syndrome. We describe important diagnostic and management considerations in the care of patients with hypoxemic respiratory failure and Lemierre's syndrome. Essential components of management include prompt antibiotic therapy, lung-protective ventilation strategies, and supportive care. PMID:25143837

  14. Acute Respiratory Distress Syndrome in Lemierre's Syndrome.

    PubMed

    Hein, Paul N; Soghikian, Maida V; Bhangoo, Munveer S

    2014-01-01

    Lemierre's syndrome is an infectious disease defined by the presence of septic thrombophlebitis with associated embolic phenomenon, most commonly to the lungs. Here we present two cases from a single institution of acute respiratory distress syndrome (ARDS) developing as a result of Lemierre's syndrome in previously healthy young adult men. ARDS can occur as a consequence of pulmonary septic emboli and sepsis, both of which are well-described consequences of Lemierre's syndrome. We describe important diagnostic and management considerations in the care of patients with hypoxemic respiratory failure and Lemierre's syndrome. Essential components of management include prompt antibiotic therapy, lung-protective ventilation strategies, and supportive care. PMID:25143837

  15. HAMARTOMATOUS POLYPOSIS SYNDROMES

    PubMed Central

    Gammon, Amanda; Jasperson, Kory; Kohlmann, Wendy

    2009-01-01

    Hamartomatous polyposis syndromes are a diverse group of inherited conditions grouped together because they exhibit hamartomatous rather than epithelial polyp histology. Each syndrome exhibits characteristic polyp histology, gastrointestinal polyp distribution, gastrointestinal cancer risks, extra-intestinal benign findings and often extra-intestinal cancer risks. Identifying individuals at risk for these syndromes and accurately defining the precise diagnosis is necessary for planning surveillance and management in order to prevent the benign and malignant complications. Characteristic syndrome features including gastrointestinal findings, pathology, genetics, and management options for the three most common hamartomatous polyposis syndromes, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome, and juvenile polyposis will be presented in this review. PMID:19414148

  16. Diffraction limited operation with ARGOS: a hybrid AO system

    NASA Astrophysics Data System (ADS)

    Bonaglia, M.; Busoni, L.; Quirós-Pacheco, F.; Esposito, S.

    2010-07-01

    ARGOS, the Laser Guide Star (LGS) facility of the Large Binocular Telescope (LBT), implements a Ground Layer Adaptive Optics (GLAO) system, using 3 low-altitude beacons, to improve the resolution over the 4'×4' FoV of the imager and Multi Object Spectrograph (MOS) LUCIFER. In this paper we discuss the performance and the reconstruction scheme of an hybrid AO system using the ARGOS Rayleigh beacons complemented with a single faint high-altitude star (NGS or sodium beacon) to sense the turbulence of the upper atmosphere allowing an high degree of on-axis correction. With the ARGOS system, the NGS-upgrade can be immediately implemented at LBT using the already existing Pyramid WFS offering performance similar to the NGS AO system with the advantage of a larger sky coverage.

  17. 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).

  18. 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.

  19. 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. PMID:26280343

  20. Nodding Syndrome

    PubMed Central

    Sejvar, James J.; Riek, Lul; Vandemaele, Katelijn A.H.; Lamunu, Margaret; Kuesel, Annette C.; Schmutzhard, Erich; Matuja, William; Bunga, Sudhir; Foltz, Jennifer; Nutman, Thomas B.; Winkler, Andrea S.; Mbonye, Anthony K.

    2013-01-01

    An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5–15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. Its incidence has increased in Uganda and South Sudan over the past 10 years. Four case–control studies identified modest and inconsistent associations. There were nonspecific lesions seen by magnetic resonance imaging, no cerebrospinal fluid inflammation, and markedly abnormal electroencephalography results. Nodding episodes are atonic seizures. Testing has failed to demonstrate associations with trypanosomiasis, cysticercosis, loiasis, lymphatic filariasis, cerebral malaria, measles, prion disease, or novel pathogens; or deficiencies of folate, cobalamin, pyridoxine, retinol, or zinc; or toxicity from mercury, copper, or homocysteine. There is a consistent enigmatic association with onchocerciasis detected by skin snip or serologic analysis. Nodding syndrome is an unexplained epidemic epilepsy. PMID:23965548

  1. Antiphospholipid syndrome.

    PubMed

    George, Diane; Erkan, Doruk

    2009-01-01

    The antiphospholipid syndrome (APS) is an autoimmune systemic disease that is diagnosed when there is vascular thrombosis and/or pregnancy morbidity occurring with persistently positive antiphospholipid antibodies (aPL) (lupus anticoagulant test, anticardiolipin antibodies, and/or anti-beta(2)-glycoprotein I antibodies). Although International APS Classification Criteria have been formulated to provide a uniform approach to APS research, aPL may cause a spectrum of clinical manifestations, some of which are not included in these criteria. The main aPL-related cardiac manifestations include valve abnormalities (vegetations and/or thickening), myocardial infarction (MI), intracardiac thrombi, and myocardial microthrombosis. In this article, we will review the definition, etiopathogenesis, clinical manifestations, diagnosis, and treatment of aPL-related clinical events with emphasis on cardiac manifestations. PMID:19732604

  2. Nodding syndrome.

    PubMed

    Dowell, Scott F; Sejvar, James J; Riek, Lul; Vandemaele, Katelijn A H; Lamunu, Margaret; Kuesel, Annette C; Schmutzhard, Erich; Matuja, William; Bunga, Sudhir; Foltz, Jennifer; Nutman, Thomas B; Winkler, Andrea S; Mbonye, Anthony K

    2013-01-01

    An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5-15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. Its incidence has increased in Uganda and South Sudan over the past 10 years. Four case-control studies identified modest and inconsistent associations. There were nonspecific lesions seen by magnetic resonance imaging, no cerebrospinal fluid inflammation, and markedly abnormal electroencephalography results. Nodding episodes are atonic seizures. Testing has failed to demonstrate associations with trypanosomiasis, cysticercosis, loiasis, lymphatic filariasis, cerebral malaria, measles, prion disease, or novel pathogens; or deficiencies of folate, cobalamin, pyridoxine, retinol, or zinc; or toxicity from mercury, copper, or homocysteine. There is a consistent enigmatic association with onchocerciasis detected by skin snip or serologic analysis. Nodding syndrome is an unexplained epidemic epilepsy. PMID:23965548

  3. [Hepatopulmonary syndrome].

    PubMed

    Thévenot, Thierry; Weil, Delphine; Garioud, Armand; Lison, Hortensia; Cadranel, Jean-François; Degano, Bruno

    2016-05-01

    Hepatopulmonary syndrome (HPS) is defined by the association of portal hypertension, increased alveolar-arterial oxygen gradient and intrapulmonary vascular dilations. Pathophysiological mechanisms of hypoxemia are characterized by ventilation-perfusion mismatch, oxygen diffusion limitation between alveolus and the centre of the dilated capillary, and right-to-left shunting. An excess of vasodilator molecules (like nitric monoxide) and proangiogenic factors (like VEGF) play an important role in the occurrence of HPS. Symptoms of HPS are not specific and dominated by a progressive dyspnea in upright position. Pulse oximetry is a simple non-invasive screening test but only detect the most severe forms of HPS. Medical treatment is disappointing and only liver transplantation may lead to resolution of HPS. Survival following liver transplantation is promising when hypoxemia is not severely decreased. PMID:27021476

  4. Antiphospholipid syndrome.

    PubMed

    Khamashta, M; Taraborelli, M; Sciascia, S; Tincani, A

    2016-02-01

    Antiphospholipid syndrome (APS) is an autoimmune condition characterized by the occurrence of thrombosis (arterial and/or venous), often multiple, and/or pregnancy morbidity. Thrombosis is one of the major disease mechanisms, mainly caused by activating endothelial cells, monocytes, and platelets. At present, the management of APS patients with a history of thrombosis is based on long-term antithrombotic therapy, due to the high rate of recurrent thrombosis (29% per year without treatment). Obstetrical APS includes heterogeneous pregnancy complications whose pathogenesis has been increasingly elucidated in the past years. This is due to the current management and treatment, as 80% of APS patients achieve a live birth. The standard approach of APS is not supported by extensive evidence and the best options for refractory and incomplete cases need to be clarified. New and promising molecules are under investigation. PMID:27421221

  5. Rett Syndrome

    PubMed Central

    Smeets, E.E.J.; Pelc, K.; Dan, B.

    2012-01-01

    Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression. PMID:22670134

  6. Proteus syndrome.

    PubMed

    Dragieva, G; Stahel, H U; Meyer, M; Kempf, W; Häffner, A; Burg, G; Hafner, J

    2003-08-01

    A 34-year-old male patient was referred with a recalcitrant leg ulcer overlying an extensive vascular malformation, which had led several times to septic soft tissue infections. During his infancy he had been diagnosed to have Klippel-Trenaunay syndrome. Clinical examination revealed asymmetric hypertrophy of the lower extremities, an extensive portwine stain on the more severely affected left limb as well as prominent venous varicosities of both legs. Hands and feet showed striking cerebriform palmoplantar hypertrophy, and macrodactily with syndactily of several fingers. All toes had been amputated in early childhood due to extreme overgrowth and currently the patient walked on his forefeet in a prominent pes equinus deformity. Further symptoms consisted in several lipomas at both arms, another portwine stain at the left hemithorax and a single café-au-lait spot at the left scapula. Angio-magnetic resonance imaging scans of both legs showed an extensive venous-lymphatic vascular malformation involving the whole subcutis and infiltrating the muscle. The chronic wound was interpreted as venous stasis ulceration. Local percutaneous sclerotherapy of the dilated veins underneath the ulcer was discussed, but considered to carry a relevant risk of skin necrosis with consecutive progression of the wound. A conventional split-skin graft led to complete wound healing. Since, the patient consequently wears custom-made compression stockings and remained free from recurrences. The syndromatic constellation of palmoplantar overgrowth, multiple lipomas, giant fingers and toes, limb overgrowth, venous-lymphatic malformation and a café-au-lait spot led to the diagnosis of Proteus syndrome. The possible aetiology, clinical manifestations, differential diagnosis and management of this rare disorder are discussed. PMID:14524037

  7. 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.

  8. [Investigation on circulation of Ao shi shang han jin jing lu (Ao's Golden mirror of cold pathogenic diseases) in Japan].

    PubMed

    Liang, Rong

    2003-01-01

    Being the earliest extant work on tongue diagnostics, Ao shi jin jing lu was block-printed and published in 1654 after it was spread into Japan, on the basis of which many kinds of manuscripts were made. This book not only exerted profound influence on the Kampo diagnostics in Edo age, but also laid down a foundation for the formation of pulse diagnostic school of tongue diagnostics in Kampo medicine. PMID:12921588

  9. Gilles de la Tourette syndrome

    MedlinePlus

    ... cannot control. The condition is commonly called Tourette syndrome. ... Tourette syndrome ... fewer people have more severe forms of Tourette syndrome. Tourette syndrome is four times as likely to occur ...

  10. 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. PMID:27209717

  11. A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome

    PubMed Central

    Zhang, Wenwen; Zhou, Min; Liu, Cheng; Liu, Chen; Qiao, Tong; Huang, Dian; Ran, Feng; Wang, Wei; Liu, Changjian; Liu, Zhao

    2015-01-01

    Aneurysms-osteoarthritis syndrome (AOS) is a recently delineated autosomal dominant disorder characterized by aneurysms, dissections, and tortuosity throughout the arterial tree in association with early onset osteoarthritis, mild craniofacial features, and skeletal and cutaneous anomalies. Previous studies have demonstrated that mutations in SMAD3, a key regulator of TGF-β signal transduction, contribute to AOS. Here, we investigated a family of three generations affected by AOS. A novel SMAD3 mutation, c.266G>A (p.C89Y), was identified and cosegregated with the affected individuals in this family. Our finding expands the mutation spectrum of SMAD3 gene and further strengthens the connection between the presence of aneurysms-osteoarthritis phenotype and SMAD3 mutations, which facilitates the understanding of the genotype-phenotype correlation of AOS. PMID:26221609

  12. 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.

  13. Parkinsonian Syndromes

    PubMed Central

    Williams, David R.; Litvan, Irene

    2013-01-01

    Purpose of Review The different parkinsonian conditions can be challenging to separate clinically. This review highlights the important clinical features that guide the diagnosis of Parkinson disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and corticobasal degeneration (CBD). Strategies for treatment and disease management are also discussed. Recent Findings Over the past decade there has been an increasing recognition of the broad clinical presentations of the neurodegenerative forms of parkinsonism. Nonmotor symptoms in these diseases, including psychiatric, cognitive, autonomic, and gastrointestinal dysfunction, appear to have a major impact on quality of life and disability. PSP and CBD are now considered pathologic diagnoses, with several different and varied clinical phenotypes, that overlap and share features with PDand frontotemporal dementia syndromes. PD is distinguished by its excellent response to dopaminergic medications that is maintained over many years, in contrast to the response seen in patients with MSA and PSP. New diagnostic criteria have been proposed for CBD. No new therapeutic interventions have emerged for PSP, MSA, or CBD. Infusional therapies and deep brain stimulation surgery are established therapies for advanced PD. Summary The “parkinsonian syndromes” encompass a number of nosologic entities that are grouped together on the basis of their shared clinical features but are separated on the basis of their different pathologies. Overall, the consideration of clinical signs, mode of disease onset, and nature of disease progression are all important to make a timely and definitive diagnosis. PMID:24092286

  14. Angelman syndrome.

    PubMed

    Kyllerman, Mårten

    2013-01-01

    Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance. Occurrence has been calculated at 1:20000 to 1:12000 constituting about 6% of all children with severe mental retardation and epilepsy. The physical "prototype" includes microcephaly with flat neck, fair skin and hair, wide-spaced teeth, and open mouth with tongue protrusion. Epilepsy is characterized by atypical absences, erratic myoclonus, and occasional tonic-clonic seizures. EEG demonstrates high-amplitude 2-3Hz delta activity with spike and slow-wave discharges and sleep-activated generalized epileptiform discharges. Sodium valproate, benzodiazepines, and priacetam are frequently used and effective. Development is generally slow, the majority attaining independent walking in the first 2.5-6 years. Vocabulary is limited to a few single words with superior speech and object apprehension. The condition is due to a lack of expression of the UBE3A gene on chromosome 15q. Maternal deletions of 15q11-13 produce the most pronounced phenotype (65-70% of probands), uniparental disomy and imprinting center mutations (10%), and UBE3A point mutations (11%) produce milder phenotypes. PMID:23622177

  15. 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

  16. Boerhaave's syndrome.

    PubMed Central

    Janjua, K. J.

    1997-01-01

    Boerhaave's syndrome or spontaneous oesophageal perforation, is a potentially lethal and frequently elusive medical condition which presents not only a diagnostic but also a therapeutic challenge. It is insufficiently considered in diagnostic hypotheses, yet may be confirmed or excluded by simple methods such as an erect chest film and a contrast study of the oesophagus. Errors in diagnosis are usually caused by unawareness of its varied and atypical presentations or failure to consider its possibility in acute cardiothoracic and upper gastrointestinal conditions. Early aggressive surgical intervention in the form of open and wide mediastinal and chest drainage, with or without oesophageal repair, resection or exclusion, offers the patient the best chance of survival against this otherwise invariably fatal event. Nonoperative therapy consisting of antibiotics, nil oral regimen, nasogastric tube suction, pleural drainage, H2 receptor blockers and either a feeding enterostomy or total parenteral nutrition, may also be appropriate in selected patients. It is probable that the condition is more common than is generally supposed. All clinicians need to be aware of this lethal disease, its frequently unusual presentations and the importance of early diagnosis. Images Figure 1 Figure 2 PMID:9196697

  17. Tourette's syndrome.

    PubMed

    Müller-Vahl, Kirsten R

    2009-01-01

    Tourette's syndrome (TS) is a chronic disorder characterized by motor and vocal tics and a variety of associated behaviour disorders. Because current therapy is often unsatisfactory, there is expanding interest in new therapeutic strategies that are more effective, cause less side effects and ameliorate not only tics but also behavioural problems. From anecdotal reports and preliminary controlled studies it is suggested that - at least in a subgroup of patients - cannabinoids are effective in the treatment of TS. While most patients report beneficial effects when smoking marijuana (Cannabis sativa L.), available clinical trials have been performed using oral Δ⁹-tetrahydrocannabinol (THC). In otherwise treatment-resistant TS patients, therefore, therapy with THC should not be left unattempted. To date, it is unknown whether other drugs that interact with the endocannabinoid receptor system might be more effective in the treatment of TS than smoked marijuana or pure THC. Since it has been suggested that abnormalities within the endocannabinoid receptor system might underlie TS pathophysiology, it would be of interest to investigate the effect of substances that for example bind more selectively to the central cannabinoid receptor or inhibit the uptake or the degradation of different endocannabinoids. PMID:21104394

  18. 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

  19. 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.

  20. Stream-Field Interactions in the Magnetic Accretor AO Piscium

    NASA Astrophysics Data System (ADS)

    Hellier, Coel; van Zyl, Liza

    2005-06-01

    UV spectra of the magnetic accretor AO Psc show absorption features for half the binary orbit. The absorption is unlike the wind-formed features often seen in similar stars. Instead, we attribute it to a fraction of the stream that overflows the impact with the accretion disk. Rapid velocity variations can be explained by changes in the trajectory of the stream depending on the orientation of the white dwarf's magnetic field. Hence, we are directly observing the interaction of an accretion stream with a rotating field. We compare this behavior to that seen in other intermediate polars and in SW Sex stars.

  1. Prader-Willi syndrome

    MedlinePlus

    ... chromosome 15 and none from the father These genetic changes occur randomly. Persons who have this syndrome ... Genetic testing is available to test children for Prader-Willi syndrome. As the child grows older, lab ...

  2. Lennox-Gastaut Syndrome

    MedlinePlus

    ... Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. ... broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed ...

  3. Beckwith-Wiedemann syndrome

    MedlinePlus

    Beckwith-Wiedemann syndrome is a growth disorder that causes large body size, large organs, and other symptoms. It is ... Beckwith-Wiedemann syndrome is caused by a defect in the genes on chromosome 11. About 10% of cases can ...

  4. 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- ...

  5. 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 ...

  6. HAMARTOMATOUS POLYPOSIS SYNDROMES

    PubMed Central

    Calva, Daniel; Howe, James R.

    2009-01-01

    Synopsis Since the histological description of the hamartomatous polyp in 1957 by Horrilleno et al., several different syndromes have been described with the propensity to develop these polyps in the upper and lower GI tracts. These include Juvenile Polyposis, Peutz-Jeghers syndrome, hereditary mixed polyposis syndrome, and the PTEN hamartoma tumor syndromes (Cowden and Bannayan-Riley-Ruvalcaba syndromes), which are autosomal-dominantly inherited, and Cronkhite-Canada syndrome, which is acquired. The clinical aspects, the molecular pathogenesis, the organ systems affected, the risks of cancer, and the management of these hamartomatous polyposis syndromes will be reviewed in this paper. Although the incidence of these syndromes is low, it is important for clinicians to recognize these disorders in order to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in patients at risk. PMID:18672141

  7. Complex regional pain syndrome

    MedlinePlus

    Complex regional pain syndrome (CRPS) is a chronic pain condition that can affect any area of the ... Bailey A, Audette JF. Complex regional pain syndrome. In: Frontera ... of Physical Medicine and Rehabilitation. 2nd ed. Philadelphia, ...

  8. Sick sinus syndrome

    MedlinePlus

    ... chambers is a common cause of sick sinus syndrome. Coronary artery disease , high blood pressure, and aortic and ... pressure may be normal or low. Sick sinus syndrome may cause symptoms of heart failure to start or get worse. Sick sinus ...

  9. Riley-Day syndrome

    MedlinePlus

    Riley-Day syndrome is an inherited disorder that affects nerves throughout the body. ... Riley-Day syndrome is passed down through families (inherited). A person must inherit a copy of the defective gene ...

  10. Dubin-Johnson syndrome

    MedlinePlus

    Dubin-Johnson syndrome is a disorder passed down through families (inherited) in which a person has mild jaundice throughout ... Dubin-Johnson syndrome is a very rare genetic disorder. In order to inherit the condition, a child must get ...

  11. 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 ...

  12. 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)

  13. Neonatal respiratory distress syndrome

    MedlinePlus

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... Neonatal RDS occurs in infants whose lungs have not yet fully ... disease is mainly caused by a lack of a slippery substance in ...

  14. 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 ...

  15. Riley-Day syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/001387.htm Riley-Day syndrome To use the sharing features on this page, please enable JavaScript. Riley-Day syndrome is an inherited disorder that affects nerves ...

  16. Klippel-Trenaunay syndrome

    MedlinePlus

    ... typically present at birth. The syndrome often involves port wine stains, excess growth of bones and soft ... Symptoms of Klippel-Trenaunay syndrome include: Many port wine ... the skin Varicose veins (may be seen in early infancy, but are ...

  17. What Is Down Syndrome?

    MedlinePlus

    ... chromosome. What Is the Likelihood of Having a Second Child with Down Syndrome? Once a woman has ... Down syndrome. Amniocentesis is usually performed in the second trimester between 15 and 20 weeks of gestation, ...

  18. 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 ...

  19. Hantavirus Pulmonary Syndrome (HPS)

    MedlinePlus

    ... this page: About CDC.gov . Hantavirus Share Compartir Hantavirus Pulmonary Syndrome (HPS) Severe HPS. Image courtesy D. ... the workers showed evidence of infection or illness. Hantavirus Pulmonary Syndrome (HPS) Topics Transmission Where HPS is ...

  20. Rubinstein-Taybi syndrome

    MedlinePlus

    Rubinstein syndrome, RTS ... Rubinstein-Taybi Parents Group USA: www.rubinstein-taybi.org ... Philadelphia, PA: Elsevier; 2016:chap 14. Stevens CA. Rubinstein-Taybi syndrome. Gene Reviews. 2014;8. PMID: 20301699 ...

  1. Sjogren-Larsson Syndrome

    MedlinePlus

    ... Sjogren-Larsson Syndrome Sjogren-Larsson Syndrome What causes SLS? SLS is caused by mutations in a gene ... in the body, leading to SLS. How is SLS diagnosed? SLS can be diagnosed by a biochemical ...

  2. Irritable bowel syndrome - aftercare

    MedlinePlus

    Irritable bowel syndrome (IBS) may be a lifelong condition. You may be suffering from cramping and loose stools, diarrhea, ... Ferri FF. Irritable bowel syndrome. In: Ferri FF, ed. Ferri's ... . Philadelphia, PA: Elsevier Mosby; 2015:pages 669-70. What I ...

  3. Premenstrual Syndrome (PMS) FAQ

    MedlinePlus

    ... PMS) Patient Education FAQs Premenstrual Syndrome (PMS) Patient Education Pamphlets - Spanish Premenstrual Syndrome (PMS) FAQ057, May 2015 PDF Format ... Your Practice Patient Safety & Quality Payment Reform (MACRA) Education & Events Annual ... Pamphlets Teen Health About ACOG About Us Leadership & ...

  4. Shaken baby syndrome

    MedlinePlus

    Shaken baby syndrome is a severe form of child abuse caused by violently shaking an infant or child. ... Shaken baby syndrome can occur from as little as 5 seconds of shaking. Shaken baby injuries most often occur ...

  5. Ehlers-Danlos syndrome

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/001468.htm Ehlers-Danlos syndrome To use the sharing features on this page, please enable JavaScript. Ehlers-Danlos syndrome (EDS) is a group of inherited disorders marked ...

  6. Restless legs syndrome

    MedlinePlus

    Restless legs syndrome (RLS) is a nervous system problem that causes you to feel an unstoppable urge to get ... DA, Bista SR, et al. The treatment of restless legs syndrome and periodic limb movement disorder in adults-an ...

  7. Neonatal respiratory distress syndrome

    MedlinePlus

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... include: Bluish color of the skin and mucus membranes (cyanosis) Brief stop in breathing (apnea) Decreased urine ...

  8. Immune Reconstitution Syndrome

    MedlinePlus

    ... RECONSTITUTION SYNDROME? Some people who start antiretroviral therapy (ART) get health problems even though their HIV comes ... may occur in about 20% of people starting ART. HOW WAS THE SYNDROME IDENTIFIED? Several patients developed ...

  9. 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? • ...

  10. 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 is a disorder passed down through families ( ...

  11. 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

  12. 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.

  13. 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.

  14. Fragile X syndrome

    MedlinePlus

    Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1 . A small part of the gene ... is repeated on a fragile area of the X chromosome. The more repeats, the more likely the ...

  15. [Morning glory syndrome].

    PubMed

    López-Lizárraga, Erika Paulina; Bolaños-Jiménez, Rodrigo; Treviño-Alanís, M Guadalupe; Rivera-Silva, Gerardo

    2011-01-01

    In 1970, Kindier described the morning glory syndrome. This syndrome is a congenital abnormality of the optic nerve with unilateral presence and very low incidence. It is characterized by an enlarged optical disc, deep excavation, presence of traces of radial glia, and arrangement of retinal vascularization. This report describes the fundoscopic image in a patient with morning glory syndrome. PMID:21412399

  16. Stiff skin syndrome.

    PubMed

    Geng, S; Lei, X; Toyohara, J P; Zhan, P; Wang, J; Tan, S

    2006-07-01

    Stiff skin syndrome is a rare disorder characterized by pronounced skin induration, mild hypertrichosis and limited joint mobility, predominantly on the buttocks and thighs. Many heterogeneous cases have been reported under the name of stiff skin syndrome. We present a case of stiff skin syndrome from China, the diagnosis based on the patient's typical clinical and histopathological features. PMID:16836505

  17. CONSTIPATION IN RETT SYNDROME

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Gastrointestinal problems occur frequently in girls with Rett syndrome. Constipation is a common problem in girls with Rett syndrome because of their neurological abnormalities. Research studies to better understand the abnormalities of large bowel function in our girls with Rett syndrome have not b...

  18. Learning about WAGR Syndrome

    MedlinePlus

    ... a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye ... treatment. Surgery may also be done when a boy with WAGR syndrome has undescended testes. When girls with WAGR syndrome have abnormal ovaries, they have ...

  19. CANDLE syndrome: a recently described autoinflammatory syndrome.

    PubMed

    Tüfekçi, Özlem; Bengoa, ŞebnemYilmaz; Karapinar, Tuba Hilkay; Ataseven, Eda Büke; İrken, Gülersu; Ören, Hale

    2015-05-01

    CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to have mutation in PSMB8 gene. Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, joint contractures, hypertrglyceridemia, lipodystrophy, and autoimmune hemolytic anemia. Clinical features together with the skin biopsy findings were consistent with the CANDLE syndrome. The pathogenesis and treatment of this syndrome have not been fully understood. Increased awareness of this recently described syndrome may lead to recognition of new cases and better understanding of its pathogenesis which in turn may help for development of an effective treatment. PMID:25036278

  20. 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. PMID:26971503

  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. Hereditary Hamartomatous Polyposis Syndromes

    PubMed Central

    2010-01-01

    Hamartomatous polyposis syndromes are a rare group of hereditary autosomal dominant disorders that comprise less than 1% of all hereditary colorectal cancers. Hamartomatous polyps, in and of themselves, are benign entities; however, these hamartomatous polyposis syndromes have a malignant potential for the development of colorectal cancer as well as extracolonic cancers. Early detection and proper surveillance are vital to minimizing the risk of carcinoma. This article provides a critical review of the clinical presentation, pathology, genetics, and screening and surveillance guidelines of juvenile polyposis syndrome, PTEN hamartoma tumor syndrome, and Peutz-Jeghers syndrome. PMID:20567567

  3. Barth syndrome

    PubMed Central

    2013-01-01

    First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage

  4. Searching and Studying Binary Asteroids with AO Systems

    NASA Astrophysics Data System (ADS)

    Marchis, F.; Descamps, P.; Berthier, J.; Hestroffer, D.; de Pater, I.; Conrad, A.; Le Mignant, D.; Chaffee, F.; Gavel, D.

    2003-05-01

    Our group has conducted adaptive optics observations of asteroids since 2001. Our main goal is the search and study of binary asteroids using several AO systems (Lick, Keck, VLT) and related technique such as Appulse (Berthier and Marchis, 2002) and Laser Guide Star observations (Marchis et al., AGU-EGS, 2003) to broaden the sample of asteroids observed from the main-belt out to the Kuiper Belt. We focussed our program last year on Trojan Asteroids. Six of them were observed using Appulses with Keck AO ( ˜0.05-0.10", mv=15.4-18.5), 6 with the LGS at Lick ( ˜0.25-0.35", mv<16) and 12 with the VLT/NACO system ( ˜0.10-0.14"; mv<16.7). None of these observations reveals the presence of a companion. Based on this sample, and including 617 Patroclus binary asteroid discovered by Merline et al. (IAU, 7741, 2001), we deduce that the proportion of binary Trojan asteroids larger than 40 km is less than 4%. We will promote and discuss a technique of the analysis of negative discovery in large samples. In January 2003, we conducted an observing campaign spanning 5 days of 121 Hermione with NACO, the new AO system offered at VLT. This C-type asteroid was discovered by Merline et al. (IAU, 7980, 2002). The companion, 6.1 mag fainter than the primary, is easily detected despite the faintness of the asteroid (mv ˜13). We use the method described in Marchis et al. (Icarus, 2003) to determine the orbit of the companion. Its orbital elements are a=794.7+/-2.1 km, and P=1.643+/-0.005 days. We derived a mass =1.47E19 kg, and a density of 3.1+/-0.8 g cm-3 (using IRAS diameter of 209+/-4.7 km). Considering typical densities of meteorite analogues (CI or CM carboneceous chondrite) would led to an extremely low macro-porosity of p<3%. This suggests that the volume of Hermione is ˜30% larger, which is also supported by our resolved images of this body. This work supported by the National Science Foundation Science and Technology Center for Adaptive Optics, based partly on observations

  5. Nao/ao Variability In The Coupled Bergen Climate Model

    NASA Astrophysics Data System (ADS)

    Sorteberg, A.; Furevik, T.; Bentsen, M.; Drange, H.; Kvamsto, N. G.; Thorstensen-Kindem, I.

    A new fully coupled atmosphere-ocean-sea ice model, known as the Bergen Climate Model (BCM), has been developed. The coupled model can be run with stretched co- ordinates both in the atmosphere and ocean and consists of the atmospheric model ARPEGE/IFS, and a global version of the isopycnal ocean model MICOM, including a sea ice model. The atmospheric model ARPEGE/IFS (c22) is a spectral model devel- oped jointly by Meteo-France and the European Centre for Medium-Range Weather Forecasts (ECMWF). The ocean circulation model is the Miami Isopycnic Coordinate Ocean Model (MI- COM). Several modifications have been done to the MICOM model including the incorporation of a thermodynamic and dynamic sea ice model, the use of tempera- ture as a prognostic variable instead of salinity, and the use of a metric scale factor in both lateral, so the model can easily be configured on a general orthogonal grid. Also,the thickness diffusion has been modified to better handle diffusion near bottom topography and the base of the mixed layer. Coupling has been done with the library OASIS where 14 different fields are ex- changed using Montecarlo mapping and subgrid interpolation. Continental runoff into the correct rivers and discharge into the correct ocean grid cells are performed using the Total Runoff Integrating Pathways (TRIP) data set. Results will be present from a 300 years flux adjusted control integration of BCM with todays climate, using a unstretched T63 truncation in the atmosphere and a 0.8 by 2.4 degree resolution (near the equator gradually transforming to approximate square grid cells towards the poles) in the ocean. The model output has been analysed for large scale variability in both the ocean and atmosphere, with emphasise on the North Atlantic and Arctic climate. Statistical properties of the NAO/AO signal, and its im- pacts on the climate components, are identified and compared with observations. The NAO/AO mode of variability show up in the model with

  6. Metabolic syndrome and menopause

    PubMed Central

    2013-01-01

    Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3) criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value<0.05). Our study shows high abdominal obesity and hypertension are the most prevalent components of metabolic syndrome. 15%, 13.3% and 1.8% of subjects had three, four and five criteria for metabolic syndrome, respectively. There was a significant relationship between number of components of metabolic syndrome and waist circumference. Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause. PMID:23497470

  7. LDEF (Flight), AO201 : Interplanetary Dust Experiment, Tray C09

    NASA Technical Reports Server (NTRS)

    1990-01-01

    LDEF (Flight), AO201 : Interplanetary Dust Experiment, Tray C09 The flight photograph was taken during the LDEF retrieval and provides an on-orbit view of the C09 integrated tray. When comparing this photograph with the prelaunch photograph, very little difference can be seen. A brown stain is visible around some of the fasteners and on mounting plates. The stain has been attributed to outgassing and contamination from the LDEF and experiment related materials being flown. When compared to the prelaunch photograph, the C09 integrated tray seems to be in excellent condition. The Interplanetary Dust Experiment appears to have a thin brown stain around some of the fasteners and also a small rectangular stain, in the center, along the bottom edge of the detector mounting plate. The IDE seems to be in excellent condition with all hardware intact. The colors seen in the detectors is a reflection of the Orbiter's white cargo bay liner.

  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. 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.

  10. NFIRAOS: first facility AO system for the Thirty Meter Telescope

    NASA Astrophysics Data System (ADS)

    Herriot, Glen; Andersen, David; Atwood, Jenny; Boyer, Corinne; Byrnes, Peter; Caputa, Kris; Ellerbroek, Brent; Gilles, Luc; Hill, Alexis; Ljusic, Zoran; Pazder, John; Rosensteiner, Matthias; Smith, Malcolm; Spano, Paolo; Szeto, Kei; Véran, Jean-Pierre; Wevers, Ivan; Wang, Lianqi; Wooff, Robert

    2014-07-01

    NFIRAOS, the Thirty Meter Telescope's first adaptive optics system is an order 60x60 Multi-Conjugate AO system with two deformable mirrors. Although most observing will use 6 laser guide stars, it also has an NGS-only mode. Uniquely, NFIRAOS is cooled to -30 °C to reduce thermal background. NFIRAOS delivers a 2-arcminute beam to three client instruments, and relies on up to three IR WFSs in each instrument. We present recent work including: robust automated acquisition on these IR WFSs; trade-off studies for a common-size of deformable mirror; real-time computing architectures; simplified designs for high-order NGS-mode wavefront sensing; modest upgrade concepts for high-contrast imaging.

  11. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    PubMed Central

    Sarraf, Mohammad; Schrier, Robert W.

    2011-01-01

    Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed. PMID:21423563

  12. [Tic syndrome].

    PubMed

    Czapliński, Adam; Steck, Andreas J; Fuhr, Peter

    2002-01-01

    A tic is an involuntary, sudden, rapid, recurrent, nonrrhythmic, stereotyped, motor movement or vocalization. This paper reviews clinical, pathophysiological, epidemiological and treatment issues of tic disorders. The clinical presentation of tic disorders with simple and complex motor or vocal tics is reviewed in detail. The most common psychiatric comorbid conditions, such as personality disorder (PD), Obsessive-Compulsive Disorder (OCD), Self-Destructive Behavior (SDB) and Attention Deficit Hyperactivity Disorder (ADHD) are presented too. All forms of tics may be exacerbated by anger or stress, but they are usually markedly diminished during sleep. Premonitory feelings or "sensory experiences", which are distinct from the actual motor or phonic tics and precede the tics, occur in over 80% of tic-patients and in 95% of patients with Gilles de la Tourette Syndrome (GTS). The American Psychiatric Association recognizes three types of tic disorders on the basis of clinical criteria: Transient Tic Disorder, Chronic Motor or Vocal Tic Disorder and GTS. The diagnostic criteria for these types are described. According to epidemiological data, up to 10% of children have at least somewhere a transient tic disorder. The onset of tics, whether simple or multiple, occurs at approximately 7 years of age. The accepted prevalence figure for GTS is 0.05-3%. Although tics can appear as the result of brain injury, Huntington chorea or encephalitis, they are most commonly idiopathic. Genetic factors appear to be present in many but not in all cases of tic disorders. Autosomal dominant, sex-linked models or semirecessive-semidominant-oligogenic models have been considered. Based on the review of the literature we believe that tic disorders are related to altered neurotransmitter function within the CNS, especially that the functional abnormality is somehow related to dopaminergic mechanism. Several authors have recently investigated the possible role of autoimmune response to

  13. Phenotype of asthma-chronic obstructive pulmonary disease overlap syndrome

    PubMed Central

    2015-01-01

    Many patients with asthma or chronic obstructive pulmonary disease (COPD) have overlapping characteristics of both diseases. By spirometric definition, patients with both fixed airflow obstruction (AO) and bronchodilator reversibility or fixed AO and bronchial hyperresponsiveness can be considered to have asthma-COPD overlap syndrome (ACOS). However, patients regarded to have ACOS by spirometric criteria alone are heterogeneous and can be classified by phenotype. Eosinophilic inflammation, a history of allergic disease, and smoke exposure are important components in the classification of ACOS. Each phenotype has a different underlying pathophysiology, set of characteristics, and prognosis. Medical treatment for ACOS should be tailored according to phenotype. A narrower definition of ACOS that includes both spirometric and clinical criteria is needed. PMID:26161009

  14. Phenotype of asthma-chronic obstructive pulmonary disease overlap syndrome.

    PubMed

    Rhee, Chin Kook

    2015-07-01

    Many patients with asthma or chronic obstructive pulmonary disease (COPD) have overlapping characteristics of both diseases. By spirometric definition, patients with both fixed airflow obstruction (AO) and bronchodilator reversibility or fixed AO and bronchial hyperresponsiveness can be considered to have asthma-COPD overlap syndrome (ACOS). However, patients regarded to have ACOS by spirometric criteria alone are heterogeneous and can be classified by phenotype. Eosinophilic inflammation, a history of allergic disease, and smoke exposure are important components in the classification of ACOS. Each phenotype has a different underlying pathophysiology, set of characteristics, and prognosis. Medical treatment for ACOS should be tailored according to phenotype. A narrower definition of ACOS that includes both spirometric and clinical criteria is needed. PMID:26161009

  15. 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.

  16. Treatment of West syndrome.

    PubMed

    Sakakihara, Yoichi

    2011-03-01

    West syndrome is one of the most refractory epileptic syndromes in infancy, and many researchers have made great effort to find optimal treatment modalities for this syndrome. In this review, previous literature on optimal treatments of West syndrome and its refractory nature were briefly presented, followed by an introduction of recent publication of expert opinions from the US and Europe. An Asian expert opinion generated by a short questionnaire survey was then presented. It was shown that medically proven optimal treatment of West syndrome is not always the practical treatment of choice in Asian countries. Cost and geographical regions should also be taken into account in making practical choices for treatment of West syndrome. PMID:21196092

  17. Metabolic Syndrome and Migraine

    PubMed Central

    Sachdev, Amit; Marmura, Michael J.

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogenesis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise. PMID:23181051

  18. Nephrotic syndrome redux.

    PubMed

    Glassock, Richard J; Fervenza, Fernando C; Hebert, Lee; Cameron, J Stewart

    2015-01-01

    Redux: brought back, resurgent (Wikipedia free dictionary). This essay traces the history of the concepts that led to the usage of the term 'nephrotic syndrome' beginning ∼90 years ago. We then examined the various definitions used for this syndrome and modified them to conform to contemporary standards. Remarkably, only minor modifications were required. This analysis of a common clinical entity may be helpful in ensuring appropriate evaluation of patients suffering from nephrotic syndrome and nephrotic-range proteinuria. PMID:24723546

  19. Understanding Brugada syndrome.

    PubMed

    Gehshan, Janine Mary; Rizzolo, Denise

    2015-06-01

    Brugada syndrome is an established cause of sudden cardiac arrest in patients without structural cardiac abnormalities. Recognition and diagnosis of this syndrome has been slowly increasing. Syncope, ventricular dysrhythmia, or sudden cardiac arrest may be the presenting symptom, although detection of the characteristic right precordial ST-segment elevation on ECG can be a potentially lifesaving intervention. This article reviews the clinical presentation, pathophysiology, genetics, and current management of Brugada syndrome. PMID:25932713

  20. [Paraneoplastic syndromes: a review].

    PubMed

    Berardi, R; Grilli, G; Romagnoli, E; Saladino, T; Freddari, F; Tamburrano, T; Galizia, E; Carbonari, G; Mariani, C; Braconi, C; Pierantoni, C; Battelli, N; Scartozzi, M; Cascinu, S

    2005-01-01

    Modern oncology often obtains good results against earlier neoplasms, whilst it's still in difficulties against the advanced ones. The knowledge of paraneoplastic syndromes is crucial both to cure patients and to do an earlier diagnosis. When we recognize a paraneoplastic syndrome that comes before the clinic beginning of a neoplasm, perhaps we save a life. This review discusses all the main paraneoplastic syndromes, focusing mainly on their clinical aspect and reminding the most commonly associated cancers. PMID:16463565

  1. Tropical diabetic hand syndrome.

    PubMed

    Tiwari, Sangeeta; Chauhan, Ashutosh; Sethi, N T

    2008-10-01

    Tropical diabetic hand syndrome (TDHS) is a terminology used to describe a specific complication affecting patients with diabetes mellitus in the tropics. The syndrome encompasses a localized cellulitis with variable swelling and ulceration of the hands to progressive, fulminant hand sepsis, potentially fatal. Since this syndrome is less recognized it is often under-reported. Authors present two cases of TDHS and emphasize on aggressive glycemic control and surgical therapy to prevent potential crippling or fatal complications. PMID:20165601

  2. Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques.

    PubMed

    Mazzanti, Laura; Lovato, Luigi; Prandstraller, Daniela; Scarano, Emanuela; Tamburrino, Federica; Montanari, Francesca; Mineo, Gian Gaspero; Perri, Annamaria; Vestrucci, Benedetta; Giardini, Andrea

    2012-05-01

    Turner syndrome (TS) is at high risk for congenital heart diseases (CHD), aortic dilatation (AoDil) and dissection. New imaging techniques such as MRI have revealed the presence of vascular anomalies (VA) undetected at echo. MR angiography has shown a high prevalence of aortic and venous anomalies. The VA often coexist and interact to increase the risk of premature death in adulthood. AoDil and VA have been found also in asymptomatic individuals with no predisposing factors, but the prevalence is still unknown. We evaluated 100 TS subjects (15-35 yrs) with no aortic CHD at echocardiography with transthoracic MRA; 42 of them showed VA and 58 did not. Aortic diameters were indexed on BSA. At the sinuses of Valsalva a higher prevalence of AoDil was found in subjects with VA than without; 57% of them showed AoDil. The presence of VA (elongation of the transverse arch, bovine arch, left superior vena cava, PAPVD etc.) increased their relative risk of AoDil by more than 2 times. Excluding BSA influence, a severe phenotype influenced positively ascending AoDil. New imaging techniques enhance our ability to provide a prognosis for their adult age and in particular before they seek to become pregnant. PMID:22946280

  3. Genetics Home Reference: Proteus syndrome

    MedlinePlus

    ... Proteus syndrome Additional NIH Resources (3 links) National Human Genome Research Institute: NIH Researchers Identify Gene Variant in Proteus Syndrome (July 27, 2011) National Human Genome Research Institute: Proteus Syndrome: Background Information National Human ...

  4. Genetics Home Reference: Waardenburg syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Waardenburg syndrome Waardenburg syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Waardenburg syndrome is a group of genetic conditions that can ...

  5. 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 ...

  6. 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 ...

  7. Genetics Home Reference: Silver syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Silver syndrome Silver syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Silver syndrome belongs to a group of genetic disorders ...

  8. 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. ...

  9. First Trimester Down Syndrome Screen

    MedlinePlus

    ... Home Visit Global Sites Search Help? First Trimester Down Syndrome Screen Share this page: Was this page helpful? ... is carrying has a chromosomal abnormality such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The ...

  10. Genetics Home Reference: Arts syndrome

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions Arts syndrome Arts syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Arts syndrome is a disorder that causes serious neurological ...

  11. Compartment Syndrome in Children.

    PubMed

    Hosseinzadeh, Pooya; Hayes, Christopher B

    2016-07-01

    Compartment syndrome in children can present differently than adults. Increased analgesic need should be considered the first sign of evolving compartment syndrome in children. Children with supracondylar humerus fractures, floating elbow injuries, operatively treated forearm fractures, and tibia fractures are at high risk for developing compartment syndrome. Elbow flexion beyond 90° in supracondylar humerus fractures and closed treatment of forearm fractures in floating elbow injuries are associated with increased risk of compartment syndrome. Prompt diagnosis and treatment with fasciotomy in children result in excellent long-term outcomes. PMID:27241380

  12. [Bilateral operculum syndrome].

    PubMed

    Lerman-Sagie, T; Porat-Alkabetz, E; Meir, J J; Harel, S

    1996-09-01

    The bilateral operculum syndrome, is a unique developmental syndrome. It is characterized by spastic paralysis of the muscles of the face, pharynx, and of mastication, as well as by epilepsy and mental retardation. Imaging studies show bilateral, structural abnormalities in the frontal, perisylvian region consistent with polymicrogyria. These children are usually diagnosed as suffering from cerebral palsy, but in the bilateral operculum syndrome, intelligence is relatively preserved despite the severe motor involvement. Misdiagnosis may lead to improper estimation of rehabilitation potential preventing appropriate therapy, especially in the field of alternative communication. We present a 3-year-old boy, apparently the first case of this syndrome to be described in Israel. PMID:8940497

  13. Denys-Drash syndrome.

    PubMed

    Kucinskas, Laimutis; Rudaitis, Sarūnas; Pundziene, Birute; Just, Walter

    2005-01-01

    Constitutional missense mutations in the WT1 gene are usually associated with Denys-Drash syndrome. This rare syndrome is characterized by a rapid progressive nephropathy, male pseudohermaphroditism, and an increased risk for Wilms tumor. We report on a patient with incomplete Denys-Drash syndrome, which was evident by the clinical data and proved by molecular genetics methods. The patient has the mutation p.R394W in the WT1 gene and clinical symptoms of Denys-Drash syndrome. PMID:15758579

  14. Organic brain syndrome

    MedlinePlus

    OBS; Organic mental disorder (OMS); Chronic organic brain syndrome ... Listed below are disorders associated with OBS. Brain injury caused by ... the brain ( subarachnoid hemorrhage ) Blood clot inside the ...

  15. 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

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

    NASA Technical Reports Server (NTRS)

    Bourrieau, J.

    1992-01-01

    One of the objectives of the AO 138-7 experiment on board the LDEF was a total dose measurement with Thermo Luminescent Detectors (TLD 100). Two identical cases, both including 5 TLDs inside various aluminum shields, are exposed to the space environment in order to obtain the absorbed dose profile induced. Radiation fluence received during the total mission length was computed, taking into account the trapped particles (solar maximum and solar 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 Al are computed with radiation transport codes. TLD reading are performed after flight; due to the mission duration increase, a post-flight calibration was necessary in order to cover the range of the flight induced dose. The results obtained, similar (+ or - 30 pct.) in both cases, are compared with the dose profile computation. In practice, these LDEF results, with less than a factor 1.4 between measurements and forecasts, reinforce the validity of the computation methods and models used for the long term evaluation of space radiation intensity on low inclination Earth orbits.

  17. 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.

  18. 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.

  19. 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.

  20. Ruled and holographic experiment (AO 138-5)

    NASA Technical Reports Server (NTRS)

    Bonnemason, Francis

    1993-01-01

    The AO 138-5 experiment was designed, via the FRECOPA (FRench COoperative PAyload) experiment with the aim to study the optical behavior of different diffraction gratings submitted to space vacuum long exposure and solar irradiation. Samples were ruled and holographic gratings, masters or replica, and some additional control mirrors with various coatings. The experiment was located on the B3, trailing edge of the LDEF and was protected against Atomic Oxygen flux. The experienced thermal cycling was evaluated from -23 C to 66 C during the flight, 34,000 orbits. The samples (two batches of four pieces) were located on a dedicated plate, by a pair of equivalent gratings or mirrors; optical faces were located on the external side. The plate was inside a canister, which had been opened in space for ten months. When the satellite returned to Kennedy Space Center, the remaining vacuum in the canister was still correct. The analysis focused on the triple point characterization including light efficiency, wavefront flatness quality and stray light level. Tests were conducted on control mirrors and gratings (rules and holographic master or replica) loaded but not exposed to cosmic dust or direct solar irradiations. They did not show any significant variations. Solar exposure had damaged the coating (aluminum and platinum) reflectivity in the Ultra-Violet region; the degradation is higher with the gratings, in terms of efficiency. However, wavefront flatness quality and stray light level tests revealed no additional changes.

  1. Four year experience with the AO Anterior Thoracolumbar Locking Plate.

    PubMed

    Thalgott, J S; Kabins, M B; Timlin, M; Fritts, K; Giuffre, J M

    1997-05-01

    For decades spinal surgeons have attempted to design simple, single stage anterior internal fixation systems for the thoracic and lumbar spine. Early devices presented both biomechanical and technical problems. The AO Anterior Thoracolumbar Locking Plate (ATLP) was designed to solve some of the problems encountered with early anterior instrumentation. The ATLP system is constructed in Commercially Pure titanium. It is a low profile device indicated for use for unstable burst fractures in the anterior column; metastatic tumor management; and degenerative diseases of the thoracolumbar spine between levels T10 and L5. Implantation of the device involves direct anterior decompression with sagittal reduction and corpectomy. This is followed by grafting reconstruction, and plate fixation. This device has been implanted in 25 patients with an average follow-up of 38 months. There were five (5) broken screws in three (3) patients, and no broken plates. Implant related postoperative complications included two misplaced screws. Preliminary results indicate that the ATLP system seems to be a safe, low profile, MRI/CT compatible device that provides definitive single stage fixation of the anterior spinal column. PMID:9160452

  2. Ruled and holographic experiment (AO 138-5)

    NASA Astrophysics Data System (ADS)

    Bonnemason, Francis

    1993-04-01

    The AO 138-5 experiment was designed, via the FRECOPA (FRench COoperative PAyload) experiment with the aim to study the optical behavior of different diffraction gratings submitted to space vacuum long exposure and solar irradiation. Samples were ruled and holographic gratings, masters or replica, and some additional control mirrors with various coatings. The experiment was located on the B3, trailing edge of the LDEF and was protected against Atomic Oxygen flux. The experienced thermal cycling was evaluated from -23 C to 66 C during the flight, 34,000 orbits. The samples (two batches of four pieces) were located on a dedicated plate, by a pair of equivalent gratings or mirrors; optical faces were located on the external side. The plate was inside a canister, which had been opened in space for ten months. When the satellite returned to Kennedy Space Center, the remaining vacuum in the canister was still correct. The analysis focused on the triple point characterization including light efficiency, wavefront flatness quality and stray light level. Tests were conducted on control mirrors and gratings (rules and holographic master or replica) loaded but not exposed to cosmic dust or direct solar irradiations. They did not show any significant variations. Solar exposure had damaged the coating (aluminum and platinum) reflectivity in the Ultra-Violet region; the degradation is higher with the gratings, in terms of efficiency. However, wavefront flatness quality and stray light level tests revealed no additional changes.

  3. 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…

  4. 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.

  5. MagAO: Status and on-sky performance of the Magellan adaptive optics system

    NASA Astrophysics Data System (ADS)

    Morzinski, Katie M.; Close, Laird M.; Males, Jared R.; Kopon, Derek; Hinz, Phil M.; Esposito, Simone; Riccardi, Armando; Puglisi, Alfio; Pinna, Enrico; Briguglio, Runa; Xompero, Marco; Quirós-Pacheco, Fernando; Bailey, Vanessa; Follette, Katherine B.; Rodigas, T. J.; Wu, Ya-Lin; Arcidiacono, Carmelo; Argomedo, Javier; Busoni, Lorenzo; Hare, Tyson; Uomoto, Alan; Weinberger, Alycia

    2014-07-01

    MagAO is the new adaptive optics system with visible-light and infrared science cameras, located on the 6.5-m Magellan "Clay" telescope at Las Campanas Observatory, Chile. The instrument locks on natural guide stars (NGS) from 0th to 16th R-band magnitude, measures turbulence with a modulating pyramid wavefront sensor binnable from 28×28 to 7×7 subapertures, and uses a 585-actuator adaptive secondary mirror (ASM) to provide at wavefronts to the two science cameras. MagAO is a mutated clone of the similar AO systems at the Large Binocular Telescope (LBT) at Mt. Graham, Arizona. The high-level AO loop controls up to 378 modes and operates at frame rates up to 1000 Hz. The instrument has two science cameras: VisAO operating from 0.5-1μm and Clio2 operating from 1-5 μm. MagAO was installed in 2012 and successfully completed two commissioning runs in 2012-2013. In April 2014 we had our first science run that was open to the general Magellan community. Observers from Arizona, Carnegie, Australia, Harvard, MIT, Michigan, and Chile took observations in collaboration with the MagAO instrument team. Here we describe the MagAO instrument, describe our on-sky performance, and report our status as of summer 2014.

  6. Carotid sinus syndrome.

    PubMed

    Mallet, Mark

    2003-02-01

    This article reviews the recent literature about carotid sinus syndrome. It looks principally at the various ways in which it may present, the limited knowledge of its pathophysiology, and the role of carotid sinus massage in the investigation of carotid sinus syndrome. PMID:12619336

  7. 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

  8. Syndrome in Question.

    PubMed

    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

  9. Unmasking Diogenes Syndrome.

    PubMed

    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

  10. 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…

  11. 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…

  12. [Frey syndrome in childhood].

    PubMed

    Clarós, P; González-Enseñat, M A; Arimany, J; Vincente, M A; Clarós, A

    1993-01-01

    Frey's syndrome is distinguished by the appearing of erythema, sensation of hotness, sometimes pain, and transpiration discharge in the preauricular and temporal area when ingestion stars. We present an eleven month old child with this pathology and we review the etiology and clinic manifestations of this syndrome. PMID:8129975

  13. 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.…

  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. Chediak-Higashi syndrome.

    PubMed

    Kumar, P; Rao, K S; Shashikala, P; Chandrashekar, H R; Banapurmath, C R

    2000-08-01

    A case of Chediak-Higashi syndrome is reported in a four-year-old boy who presented with recurrent chest infection, partial albinism, hyperpigmentation of the extremities and presence of giant granules in leucocytes and melanocytes in the skin. Parental consanguinity was present. Though uncommon, hyperpigmentation of sun exposed areas may be the initial symptom in Chediak-Higashi syndrome. PMID:10985003

  16. Klinefelter Syndrome (For Teens)

    MedlinePlus

    ... Is It? Klinefelter syndrome can cause problems with learning and sexual development in guys. It's a genetic condition (meaning a person is born with it). Klinefelter syndrome only affects males. It happens because of a difference deep inside the body's cells, in microscopic strings of ...

  17. Fetal alcohol syndrome

    MedlinePlus

    Fetal alcohol syndrome is growth, mental, and physical problems that may occur in a baby when a mother drinks ... A baby with fetal alcohol syndrome may have the following symptoms: Poor growth while the baby is in the womb and after birth Decreased muscle ...

  18. [Kleine-Levin syndrome].

    PubMed

    Wurthmann, C; Klieser, E

    1991-05-01

    The Kleine-Levin syndrome is generally considered to be a benign functional disorder of hypothalamic structures. Its onset is usually in adolescence. The most characteristic symptoms are periodic hypersomnia, excessive eating, hypersexuality, irritability and apathy. Associated features are depressive and schizophrenic symptoms. A biological relationship between the Klein-Levin syndrome and endogenous psychoses is discussed. PMID:1869237

  19. Acute nephritic syndrome

    MedlinePlus

    ... and adolescents include: Hemolytic uremic syndrome Henoch-Schönlein purpura IgA nephropathy Post-streptococcal glomerulonephritis Common causes in ... Heart failure - overview Hemolytic-uremic syndrome Henoch-Schönlein purpura Hepatitis High blood pressure Hypersensitivity vasculitis IgA nephropathy ...

  20. Polycystic Ovary Syndrome

    MedlinePlus

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. One result is that cysts ( ... who are obese are more likely to have polycystic ovary syndrome. Symptoms of PCOS include: Infertility Pelvic pain Excess ...

  1. 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.

  2. AO-308: the high-order adaptive optics system at Big Bear Solar Observatory

    NASA Astrophysics Data System (ADS)

    Shumko, Sergey; Gorceix, Nicolas; Choi, Seonghwan; Kellerer, Aglaé; Cao, Wenda; Goode, Philip R.; Abramenko, Volodymyr; Richards, Kit; Rimmele, Thomas R.; Marino, Jose

    2014-08-01

    In this paper we present Big Bear Solar Observatory's (BBSO) newest adaptive optics system - AO-308. AO-308 is a result of collaboration between BBSO and National Solar Observatory (NSO). AO-308 uses a 357 actuators deformable mirror (DM) from Xinetics and its wave front sensor (WFS) has 308 sub-apertures. The WFS uses a Phantom V7.3 camera which runs at 2000 Hz with the region of interest of 416×400 pixels. AO-308 utilizes digital signal processors (DSPs) for image processing. AO-308 has been successfully used during the 2013 observing season. The system can correct up to 310 modes providing diffraction limited images at all wavelengths of interest.

  3. 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.

  4. A reflective Gaussian coronagraph for ExAO: laboratory performance

    NASA Astrophysics Data System (ADS)

    Park, Ryeojin; Close, Laird M.; Siegler, Nick; Nielsen, Eric L.; Stalcup, Thomas

    2006-06-01

    We report laboratory results of a coronagraphic testbed to assess the intensity reduction differences between a "Gaussian" tapered focal plane coronagraphic mask and a classical hard-edged "Top Hat" function mask at Extreme Adaptive Optics (ExAO) Strehl ratios of ~94%. However, unlike a traditional coronagraph design, we insert a reflective focal plane mask at 45 ° to the optical axis and used a "spot of Arago blocker" (axicon stop) before a final image in order to block additional mask edge-diffracted light. The testbed simulates the optical train of ground-based telescopes (in particular the 8.1m Gemini North telescope) and includes one spider vane and different mask radii (r= 1.9λ/D, 3.7λ/D, 7.4λ/D) and two types of reflective focal plane masks (hard-edged "Top Hat" and "Gaussian" tapered profiles). In order to investigate the performance of these competing coronagraphic designs with regard to extra-solar planet detection sensitivity, we utilize the simulation of realistic extra-solar planet populations (Nielsen et al. 2006). With an appropriate translation of our laboratory results to expected telescope performance, a "Gaussian" tapered mask radius of 3.7λ/D with an axicon stop performs best (highest planet detection sensitivity). For a full survey with this optimal design, the simulation predicts ~30% more planets detected compared to a similar sized "Top Hat" function mask with an axicon stop. Using the best design, the "point contrast ratio" between the stellar PSF peak and the coronagraphic PSF at 10λ/D (0.4" in H band if D = 8.1m) is 1.4 x 10 6. This is ~10 times higher than a classical Lyot "Top Hat" coronagraph.

  5. 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.

  6. AO Capabilities at the MMT for the User

    NASA Astrophysics Data System (ADS)

    Lloyd-Hart, Michael M.

    2009-05-01

    The MMT operates a facility natural guide star (NGS) AO system. Diffraction limited imaging and medium and high resolution spectroscopy in the near IR are offered over the full isoplanatic field with the ARIES instrument.The system also offers imaging with unique sensitivity in the thermal IR from 3 to 10 microns thanks to its use of an adaptive secondary mirror. L and M band imaging is offered with Clio which has a 12x15 arcsec field of view with Nyquist sampling if the diffraction limt. Recent M band images from Clio show the planetary system around HR8799. In addition, 10 - 25 micron imaging is offered with the MIRAC camera, which may also be operated as a Bracewell nulling interferometer. In this mode, two large subapertures are defined within the pupil. Light from the two is combined so as to cancel the light from an unresolved star through destructive interference, while the environs are imaged in constructive interference. In this way, dust disks and planetary systems may be imaged with greatly improved contrast. The MMT also operates the first astronomical adaptive optics system to employ multiple laser guide stars (LGS). Its initial operational mode, ground-layer adaptive optics (GLAO), provides uniform stellar wavefront correction within the 2 arcmin diameter laser beacon constellation, routinely reducing the stellar image widths to < 0.3 arcsec in the J - K bands. An imaging camera,PISCES, is available for these bands with 2 arcmin field of view sampled at 0.1 arcsec/pixel. In addition, L and M band imaging will be available with Clio in the fall of 2009, opening up near all-sky coverage with near-diffraction limited image quality and emissivity of just 7%.

  7. 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

  8. Familial unilateral Brown syndrome

    PubMed Central

    Kenawy, Nihal; Pilz, Daniela T

    2008-01-01

    We present a two-generation family with Brown syndrome. The proband was a six and a half-year-old female who presented with a history of failure of dextro-elevation of her left eye. A full ophthalmic evaluation was consistent with a left Brown syndrome. Family history revealed that her mother was operated on as a child for left Brown syndrome and examination of her four and a half-year-old sibling showed similar affection in the left eye. Autosomal dominant inheritance has been postulated in this condition. To our knowledge this is the first report of three members of a two-generation family with left-sided Brown syndrome. Genetic counseling of Brown syndrome cases is advised; nevertheless, identification of the responsible gene should shed more light on its genetics. PMID:18711279

  9. Hyperacute cognitive stroke syndromes.

    PubMed

    Ferro, J M

    2001-10-01

    Cognitive syndromes are common clinical manifestations of hyperacute stroke and may be the single or dominant presenting features. They are related to acute dysfunction of complex integrated distributed functional networks serving different cognitive domains. The most common cortical syndromes include nonfluent or fluent aphasia, neglect, collor agnosia, pure alexia and Balint's syndrome. Disturbances of declarative memory are common following posterior cerebral artery and thalamic strokes. Abulia can follow thalamic, caudate and capsular lesions. Intraventricular and subarachnoid haemorrhages can cause preeminent neuropsychological changes. Disorientation is present in about 40% of acute stroke patients and delirium complicates the course of 25% of acute strokes. Some hyperacute cognitive stroke syndromes are useful indicators of later disability. Cognitive syndromes may pose special difficulties to neurology residents, unless formal teaching in neuropsychology and psychiatry is included in their training programs. PMID:11697519

  10. Pediatric epilepsy syndromes.

    PubMed

    Wirrell, Elaine; Nickels, Katherine C

    2010-06-01

    Epilepsy syndromes denote specific constellations of clinical seizure type(s), EEG findings, and other characteristic clinical features. Most syndromes recognized in epilepsy are genetic and developmental disorders that begin in the pediatric years. Epilepsy syndromes are divided into idiopathic (primary) types, in which the presumed etiology is genetic, versus symptomatic (secondary) types, in which there is either an underlying etiology that is known or presumed based on other evidence of brain dysfunction. Epilepsies are also classified by those with generalized seizures and those with localization-related seizures. Identification of a specific syndrome is important to define the best treatment and accurately prognosticate long-term outcome for children with epilepsy. In this chapter, clinical and electrographic features as well as inheritance patterns of common pediatric epilepsy syndromes are discussed. PMID:22810315

  11. 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.

  12. 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

  13. 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…

  14. Genetics Home Reference: Gorlin syndrome

    MedlinePlus

    ... Syndrome Life Support Network Gorlin Syndrome Group National Organization for Rare Disorders (NORD) GeneReviews (1 link) Nevoid Basal Cell Carcinoma Syndrome Genetic Testing Registry (1 link) Gorlin syndrome Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  15. 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

  16. Revisiting HELLP syndrome.

    PubMed

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

    2015-12-01

    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. PMID:26525965

  17. Cannabinoid hyperemesis syndrome.

    PubMed

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

    2011-12-01

    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

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

    NASA Technical Reports Server (NTRS)

    Bourrieau, J.

    1993-01-01

    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

  19. 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

    2013-01-01

    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. PMID:23426078

  20. 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

  1. Isolation and characterization of a novel bacterium, Sphingomonas bisphenolicum strain AO1, that degrades bisphenol A.

    PubMed

    Oshiman, Ko-ichi; Tsutsumi, Yuji; Nishida, Tomoaki; Matsumura, Yoshinobu

    2007-04-01

    Bisphenol A (2,2-bis(4-hydroxyphenyl) propane, BPA), which is used as a synthetic resin material or a plasticizer, is a pollutant that possesses endocrine-disrupting activity. Bioremediation of BPA is used to decrease its polluting effects, and here we report a novel bacterial strain AO1, which is able to degrade BPA. This strain was isolated using enrichment cultivation from a soil sample from a vegetable-growing field; the sample was one of 500 soil samples collected across Japan. Strain AO1 degraded 100 mg/l BPA to an undetectable level within 6 h in MYPG medium (containing malt extract, yeast extract, peptone, and glucose) and within 48 h in minimum medium containing 1% glucose at 30 degrees C. Strain AO1 can utilize BPA as a sole source of carbon and as an energy source under aerobic conditions. The estrogenic activity of BPA in MYPG medium was ultimately reduced by strain AO1, although the activity initially increased. Taxonomical analysis showed that strain AO1 is closely related to Sphingomonas chlorophenolicum and S. herbicidovorans, neither of which have a capacity for BPA degradation. DNA-DNA hybridization showed that strain AO1 is a novel species of the Sphingomonas genus, and we designated AO1 as S. bisphenolicum. PMID:16821103

  2. 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. PMID:23597972

  3. Recurrent Miller Fisher syndrome.

    PubMed

    Madhavan, S; Geetha; Bhargavan, P V

    2004-07-01

    Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity. PMID:15645989

  4. [Refeeding syndrome: practical issues].

    PubMed

    Buzzi, M; Limonta, A; Pichard, C; Stirnemann, J

    2015-10-14

    The refeeding syndrome is frequent and potentially deadly, still it is underdiagnosed. It is defined by clinical and biological manifestations that are seen upon refeeding of malnourished patients. It is the consequence of the transition from catabolism to anabolism. Ions intracellular shift caused by insulin and B1 vitamin deficiency are fundamental in the development of this syndrome. Riskconditions are well summarized by the NICE criteria. To avoid refeeding syndrome, it is fundamental to find and correct any electrolytic deficiency and to give thiamine before starting a slow and progressive oral, enteral or parenteral refeeding. PMID:26665657

  5. Black Hole Syndrome 2000

    NASA Astrophysics Data System (ADS)

    Fukue, Jun

    2000-08-01

    A black hole falling into the Earth would syndrome toward the center, while it would shine through mass accretion. The author has re-examined the dynamics of such a black hole in the Earth. In the case of a non-radiating black hole, the timescale of the syndrome is inversely proportional to the initial mass of the black hole. In the case of a radiating black hole, on the other hand, the syndrome time is of the order of the Eddington time. The radiating black hole in the Earth would act as a strong heat source.

  6. 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

  7. Syndrome In Question*

    PubMed Central

    Maldonado, Gabriela; Peruzzo, Juliano; Tubone, Mariana Quirino; Reinehr, Clarissa Prieto Herman; Escobar, Gabriela Fortes

    2015-01-01

    The authors describe a case of Cowden´s syndrome in a female patient with classic cutaneous lesions, plus papillomatous lesions in the gastrointestinal tract and a previous history of thyroid carcinoma. Mucocutaneous lesions occur in 90% of Cowden's syndrome cases and are characterized by facial trichilemmomas, oral mucosal papillomas and benign acral keratoses. Sites of extracutaneous involvement include: the thyroid, gastrointestinal tract, breast and endometrial tissue. There is risk of malignancies in these organs and they need to be monitored with imaging tests. The early diagnosis of the syndrome by a dermatologist through mucocutaneous lesions enables the investigation and diagnosis of extracutaneous involvement. PMID:25672315

  8. Kenny-Caffe syndrome.

    PubMed

    Churesigaew, S

    1994-10-01

    Kenny-Caffe Syndrome is rarely found. From 1966-1993 only 22 cases were reported worldwide. The author presented a case of Kenny-Caffe Syndrome who showed typical findings, i.e. short stature, small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia with tetany at 1 month of age, hyperphosphatemia, hyperopia of both eyes and normal IQ. A review of the literature summarizing the clinical and laboratory findings of this syndrome is also presented. PMID:7745379

  9. 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

  10. Calibration of a curvature sensor/bimorph mirror AO system: interaction matrix measurement on MACAO systems

    NASA Astrophysics Data System (ADS)

    Oberti, Sylvain; Bonnet, Henri; Fedrigo, Enrico; Ivanescu, Liviu; Kasper, Markus E.; Paufique, Jerome

    2004-10-01

    The accurate calibration of an AO system is fundamental in order to reach the top performance expected from design. To improve this aspect, we propose procedures for calibrating a curvature AO system in view of optimizing performances and robustness, based on the experience accumulated by the ESO AO team through the development of MACAO systems for VLTI and SINFONI. The approach maximizes the quality of the Interaction Matrix (IM) while maintaining the system in its linear regime and minimizing noise and bias on the measurement.

  11. PHACE(S) syndrome.

    PubMed

    Heyer, Geoffrey L

    2015-01-01

    PHACE(S) syndrome is a neurocutaneous disorder of unknown etiology. The acronym refers to the commonest features of PHACE: posterior fossa malformations, large facial hemangiomas, cerebral arterial anomalies, cardiovascular anomalies, and eye anomalies. When ventral developmental defects such as sternal clefting or supraumbilical raphe occur, the PHACES acronym may be used. The hallmark feature of PHACE is the presence of one or more large facial infantile hemangiomas that occupy at least one facial segment. Infantile hemangiomas differ from the capillary malformation (port wine stain) of Sturge-Weber syndrome, and the arteriovenous malformation of Wyburn-Mason syndrome, distinguishing PHACE syndrome from other neurocutaneous disorders with red birthmarks. The true incidence of PHACE has not yet been established. Girls are more commonly affected than boys. Cerebral vascular anomalies are probably the most common extracutaneous feature. Given that several organ systems are involved, a multidisciplinary approach to disease surveillance and treatment is advised. PMID:26564079

  12. Fragile X Syndrome

    MedlinePlus

    Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes ... the protein. This causes the symptoms of Fragile X. People with only a small change in the ...

  13. [Dangerous cucumbers - Leylls syndrome].

    PubMed

    Csomor, Ján; Bunganič, Bohuš; Zakharov, Sergey; Pafčuga, Igor; Sedloň, Pavel; Urbánek, Petr

    2016-01-01

    Leylls syndrome (syndrome of toxic epidermal necrolysis) is a rare disease, firstly described by Scottish doctor of medicine Allan Lyell in 1956. It is characterized by huge skin and mucosa necrolysis, which affects at least 30 % of body surface, and systemic symptoms. According to the frequency of the occurrence it is an extremely rare condition, with an incidence of 0.5-2 cases per million residents per year. Leylls syndrome is considered as a toxoallergic reaction, triggered mostly by some medication and it is associated with a very high mortality rate (in the literature reported between 30 to 90 %). Adequate and timely local and systemic treatment at the Intensive Care Unit or at the specialized clinic can improve the overall poor prognosis of the patients. In our case report we describe a very rare case of the Lyells syndrome after exposure to the antifungal organosulfur compound, which is widely used by the homegardners and farmers. PMID:26967239

  14. Fetal Alcohol Syndrome

    MedlinePlus

    ... drink other beverages instead, such as water, fruit juices or milk. Questions to Ask Your Doctor If your baby was born with fetal alcohol syndrome: What health problems does my baby have? Does my baby ...

  15. Proteus Syndrome Foundation

    MedlinePlus

    Our Blog Newsletter Home About Us The PSF Provides Board of Directors Medical Advisory Board International Affiliates Proteus Syndrome Diagnostic Criteria & FAQs Medical Research Glossary Donate Cash Donation Life Insurance Gift ...

  16. Empty Sella Syndrome

    MedlinePlus

    ... hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Magnetic resonance imaging (MRI) scans are useful in evaluating ESS and for identifying underlying disorders that may be the cause of high fluid pressure. Is there any treatment? Unless the syndrome ...

  17. Miller Fisher Syndrome

    MedlinePlus

    ... sensory information to the spinal cord and brain. Magnetic resonance (MRI) or other imaging of the brain and/or spinal cord are usually normal. Spinal fluid protein is often elevated. Pure Fisher syndrome is ...

  18. Dandy-Walker Syndrome

    MedlinePlus

    ... The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that ... early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of ...

  19. What Is Marfan Syndrome?

    MedlinePlus

    ... symptoms get worse as the person gets older. Skeleton People with Marfan syndrome are often very tall, ... can help treat and sometimes prevent related problems. Skeleton Getting a yearly exam of the spine and ...

  20. Restless legs syndrome

    MedlinePlus

    ... they sleep. This condition is called periodic limb movement disorder. All of these symptoms make it hard to ... treatment of restless legs syndrome and periodic limb movement disorder in adults-an update for 2012: practice parameters ...

  1. Sturge-Weber Syndrome

    MedlinePlus

    ... neurological disorder indicated at birth by a port-wine stain birthmark on the forehead and upper eyelid ... buphthalmos). There is an increased risk for migraine headaches. Sturge-Weber syndrome rarely affects other body organs. ...

  2. 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 ...

  3. Netherton syndrome: dental considerations.

    PubMed

    Ahn, Hannah; Yoon, Richard K

    2009-01-01

    Triads of congenital erythroderma and ichthyosis, hair shaft abnormalities, and immune dysregulation have been recognized as Netherton's syndrome (NS). A pediatric patient with NS is presented. Clinical manifestations are described along with a pertinent review of the literature. PMID:19953815

  4. Multiple Endocrine Neoplasia Syndromes

    MedlinePlus

    ... or cancerous (malignant) tumors or grow excessively without forming tumors. Multiple endocrine neoplasia syndromes are caused by ... This Article Generic Name Select Brand Names corticotropin H.P. ACTHAR GEL epinephrine ADRENALIN Multiple Endocrine Neoplasia ...

  5. Living with Marfan Syndrome

    MedlinePlus

    ... live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are ... tears and leaks blood. Aortic dissection is a life-threatening condition. The main symptom of aortic dissection ...

  6. Tarsal Tunnel Syndrome

    MedlinePlus

    ... and nerves. One of these structures is the posterior tibial nerve, which is the focus of tarsal tunnel ... syndrome is a compression, or squeezing, on the posterior tibial nerve that produces symptoms anywhere along the path ...

  7. 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

  8. Patellofemoral Pain Syndrome

    MedlinePlus

    ... Physician January 15, 2007, http://www.aafp.org/afp/2007/0115/p194.html) Patellofemoral Pain Syndrome: A ... Physician November 01, 1999, http://www.aafp.org/afp/991101ap/2012.html) Written by familydoctor.org editorial ...

  9. Ramsay Hunt syndrome

    MedlinePlus

    ... is the same virus that causes chickenpox and shingles. In people with Ramsay Hunt syndrome, the virus ... PA: Elsevier Saunders; 2012:chap 70. Read More Shingles Update Date 5/28/2014 Updated by: Joseph ...

  10. 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 ...

  11. Sudden Infant Death Syndrome

    MedlinePlus

    Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call ... boys, African Americans, and American Indian/Alaska Native infants have a higher risk of SIDS. Although health ...

  12. 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.

  13. 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 ...

  14. Catastrophic Antiphospholipid Syndrome.

    PubMed

    El-Shereef, Rawhya R; 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

  15. Carpal Tunnel Syndrome

    MedlinePlus

    ... through NIH's National Center for Complementary and Alternative Medicine are investigating the effects of acupuncture on pain, loss of median nerve function, and changes in the brain associated with carpal tunnel syndrome. In addition, a ...

  16. Nephrotic Syndrome in Adults

    MedlinePlus

    ... normal fat and cholesterol levels in the blood edema, or swelling, usually in the legs, feet, or ... to absorb extra fluid from the body, causing edema. Nephrotic syndrome results from a problem with the ...

  17. 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)

  18. Treacher Collins Syndrome

    MedlinePlus

    ... cleft palate is a frequently associated conditions this syndrome. Cleft palate itself sometimes can cause feeding problems and increase the risk of middle ear problems. Your child’s primary care provider or cleft palate or craniofacial ...

  19. 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 ...

  20. Barth Syndrome (BTHS)

    MedlinePlus

    ... syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused ... required to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy metabolism. BTHS, which ...

  1. Ovarian hyperstimulation syndrome

    MedlinePlus

    ... 3 to 6% of women who go through in vitro fertilization . Other risk factors for OHSS include: Being younger than age 35 Having a very high estrogen level during fertility treatments Having polycystic ovarian syndrome

  2. Chinese restaurant syndrome

    MedlinePlus

    Hot dog headache; Glutamate-induced asthma; MSG (monosodium glutamate) syndrome ... Symptoms include: Chest pain Flushing Headache Numbness or burning in or around the mouth Sense of facial pressure or swelling Sweating

  3. ADHD & Down Syndrome

    MedlinePlus

    ... at an accredited sleep center. What Types of Communication Difficulties Can Look Like ADHD? People with Down ... Down syndrome have a wide range of learning styles. A child's educational team may need to try ...

  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. Carpal tunnel syndrome

    MedlinePlus

    ... also need to make changes in your work duties or home and sports activities. Some of the ... Call for an appointment with your provider if: You have symptoms of carpal tunnel syndrome Your symptoms ...

  6. Sudden Infant Death Syndrome

    MedlinePlus

    Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call SIDS "crib death" because many babies who die of SIDS are found in their ...

  7. Alport Syndrome Foundation

    MedlinePlus

    ... to register to receive the newsletter each month. Events Hackensack, NJ, Alport Family Meeting Online registration for ... Syndrome. For more details about these and other events, go to Upcoming Events . To read about recent ...

  8. Blind loop syndrome

    MedlinePlus

    Blind loop syndrome occurs when digested food slows or stops moving through part of the intestines. This ... The name of this condition refers to the "blind loop" formed by part of the intestine that ...

  9. 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 ...

  10. Thoracic Outlet Syndrome

    MedlinePlus

    Thoracic outlet syndrome (TOS) causes pain in the shoulder, arm, and neck. It happens when the nerves or blood vessels just below your ... vein is compressed, your hand might be sensitive to cold, or turn pale or bluish. Your arm ...

  11. 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 ...

  12. Chediak-Higashi syndrome

    MedlinePlus

    ... condition may have: Silver hair, light-colored eyes (albinism) Increased infections in the lungs, skin, and mucous ... There is no specific treatment for Chediak-Higashi syndrome. Bone ... the disease appear to have been successful in several patients. ...

  13. 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...

  14. Facts about Down Syndrome

    MedlinePlus

    ... the fluid from the sac surrounding the baby) Percutaneous umbilical blood sampling (PUBS)—examines blood from ... therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome ...

  15. Acute Radiation Syndrome

    MedlinePlus

    ... Dictionary Radiation Emergencies & Your Health Possible Health Effects Contamination and Exposure Acute Radiation Syndrome (ARS) Cutaneous Radiation ... Decision Making in Radiation Emergencies Protective Actions Internal Contamination Clinical Reference (ICCR) Application Psychological First Aid in ...

  16. 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: Overexaggerated reflexes Spasticity (having spasms) Blood and urine tests may ...

  17. Restless Legs Syndrome

    MedlinePlus

    ... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Restless Legs Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

  18. Shaken Baby Syndrome

    MedlinePlus

    ... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Shaken Baby Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

  19. Post-Polio Syndrome

    MedlinePlus

    ... Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Post-Polio Syndrome ... News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | Privacy ...

  20. What is Metabolic Syndrome?

    MedlinePlus

    ... becoming more common due to a rise in obesity rates among adults. In the future, metabolic syndrome may overtake smoking as the leading risk factor for heart disease. It is possible to prevent or delay ...

  1. [Chronic fatigue syndrome].

    PubMed

    Henningsen, P; Martin, A

    2013-01-01

    Enduring and disabling fatigue that cannot be explained by a known disease is the main characteristic of chronic fatigue syndrome. Several definitions do exist, and classification approaches vary regarding supplementary symptoms, time course, and by implicit concepts of aetiology. CFS can be considered as a functional somatic syndrome, e. g. supported by the high rates of comorbid bodily complaints and syndromes that lack clear medical explanation. Accordingly the diagnostic process should not be limited to the thorough physical examination, but also address additional somatic complaints, psychosocial factors (specifically subjective illness beliefs), and impairments. Recently German medical and psychological societies provided treatment guidelines for functional somatic syndromes. Cognitive behavioural therapy and graded activity are evidence based treatment methods for CFS. PMID:23250694

  2. Munchausen by Proxy Syndrome

    MedlinePlus

    ... syndrome (MBPS) is a relatively rare form of child abuse that involves the exaggeration or fabrication of illnesses ... by a primary caretaker. Also known as "medical child abuse," MBPS was named after Baron von Munchausen, an ...

  3. 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

  4. Shah-Waardenburg syndrome.

    PubMed

    Mahmoudi, Abdelhalim; Rami, Mohamed; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Youssef, Bouabdallah

    2013-01-01

    Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities. PMID:23565307

  5. Syndrome in question.

    PubMed

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

    2016-02-01

    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

  6. Sweet Syndrome in childhood.

    PubMed

    Santos, Talita Batalha Pires dos; Sales, Barbara Cristina Gouveia; Sigres, Marianne; Rosman, Fernando; Cerqueira, Ana Maria Mosca de

    2015-01-01

    Sweet syndrome or acute febrile neutrophilic dermatosis is a recurrent and rare skin disease caused by the release of cytokines, with diverse possible etiologic causes. It presents clinically with polymorphic skin lesions, fever, arthralgia, and peripheral leukocytosis. In general, it is associated with infections, malignancy and drugs. It usually regresses spontaneously and treatment is primarily to control the basic disease. The authors report the case of a child of 1 year and 11 months who developed Sweet syndrome. PMID:26375229

  7. Sweet Syndrome in childhood*

    PubMed Central

    dos Santos, Talita Batalha Pires; Sales, Barbara Cristina Gouveia; Sigres, Marianne; Rosman, Fernando; de Cerqueira, Ana Maria Mosca

    2015-01-01

    Sweet syndrome or acute febrile neutrophilic dermatosis is a recurrent and rare skin disease caused by the release of cytokines, with diverse possible etiologic causes. It presents clinically with polymorphic skin lesions, fever, arthralgia, and peripheral leukocytosis. In general, it is associated with infections, malignancy and drugs. It usually regresses spontaneously and treatment is primarily to control the basic disease. The authors report the case of a child of 1 year and 11 months who developed Sweet syndrome. PMID:26375229

  8. 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

  9. SYNDROME IN QUESTION*

    PubMed Central

    Chiacchio, Nilton Di; Jasso-Olivares, Julio Cesar; Chiacchio, Nilton Gioia Di; Jacinto, José Antonio; Restrepo, Maria Victoria Suárez

    2015-01-01

    The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome. PMID:26131880

  10. Cardiac Munchausen's syndrome.

    PubMed Central

    Dickinson, E J; Evans, T R

    1987-01-01

    Ten years' experience of cardiac Munchausen's syndrome in the Cardiac Care Unit of an Inner London teaching hospital is reported. Thirty-six admissions in this category were identified and analysed, and 4 typical cases are described. The common presenting complaints, recurring features and the relationship with other forms of Munchausen's syndrome are discussed, as are possible strategies available to deal with this clinical entity. PMID:3694601

  11. Bannayan Ruvalcaba Riley Syndrome

    PubMed Central

    Sagi, Sashidhar V.; Ballard, Darren D.; Marks, Rebecca A.; Dunn, Katie R.

    2014-01-01

    A 63-year-old male with history of prostate cancer treated with radiation presented for a colonoscopy for small volume hematochezia. The colonoscopy revealed numerous polyps, which were found to be ganglioneuromas on histological examination. He was referred to medical genetics with suspicion for hamartomatous polyposis syndrome and was found to have a mutation in the PTEN gene. Based on this and suggestive clinical findings, he was diagnosed with Bannayan Ruvalcaba Riley syndrome. PMID:26157835

  12. Living with Tourette's syndrome.

    PubMed

    Rindner, Ellen C

    2007-08-01

    Illnesses in children are difficult enough, but for children and adolescents with Tourette's syndrome, the emergence of unwelcome motor and vocal tics in social situations can lead to not only embarrassment, but also increased self-consciousness, social isolation, thoughts of persecution, and physical pain. This article offers an overview of Tourette's syndrome and focuses on DSM-IV-TR criteria, severity, prevalence and course, etiology and epidemiology, indications for medications, psychosocial therapies, and nursing implications. PMID:17848040

  13. 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

  14. Serotonin Syndrome in Pregnancy.

    PubMed

    Roth, Cheryl K; Hering, Sandra L; Campos, Stephanie

    2015-01-01

    Millions of people take selective serotonin reuptake inhibitors (SSRIs) for depression and anxiety, so nurses and other clinicians need to be aware of the potential for serotonin toxicity and serotonin syndrome. These conditions can occur when women taking SSRIs are given additional medications in the labor and birth or postpartum settings. Symptoms can have an acute onset and can include delirium, fever and hypertension. Understanding the mechanism and symptoms of serotonin syndrome can lead to timely treatment of this unusual condition. PMID:26264799

  15. Ketonuria and HELLP syndrome.

    PubMed

    Gubbala, Phanendra Kumar; Karoshi, Mahantesh; Zakaria, Faris

    2009-01-01

    We recently managed a patient with the HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelet count) where there was a delay in diagnosis due to gastroenteritis. This case also reiterates the varied or lack of symptomatology in patients developing HELLP and obscuring the initial diagnosis. Patients with HELLP syndrome have significant maternal morbidity and mortality, hence clinical vigilance and high suspicion play a key role in the diagnosis and subsequent management. PMID:21686464

  16. Ketonuria and HELLP syndrome

    PubMed Central

    Gubbala, Phanendra Kumar; Karoshi, Mahantesh; Zakaria, Faris

    2009-01-01

    We recently managed a patient with the HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelet count) where there was a delay in diagnosis due to gastroenteritis. This case also reiterates the varied or lack of symptomatology in patients developing HELLP and obscuring the initial diagnosis. Patients with HELLP syndrome have significant maternal morbidity and mortality, hence clinical vigilance and high suspicion play a key role in the diagnosis and subsequent management. PMID:21686464

  17. [Chronic exertional compartment syndrome].

    PubMed

    Rom, Eyal; Tenenbaum, Shay; Chechick, Ofir; Burstein, Gideon; Amit, Yehuda; Thein, Ran

    2013-10-01

    Chronic exertional compartment syndrome is an uncommon phenomenon first reported in the mid 50's. This condition is characterized by sharp pain during physical activity, causing reduction in activity frequency or intensity and even abstention. This syndrome is caused by elevation of the intra-compartmental pressure which leads to decreased tissue perfusion, thus ischemic damage to the tissue ensues. Chronic exertional syndrome is usually related to repetitive physical activity, usually in young people and athletes. The physical activity performed by the patient causes a rise in intra-compartmental pressure and thereby causes pain. The patient discontinues the activity and the pain subsides within minutes of rest. Chronic exertional syndrome is reported to occur in the thigh, shoulder, arm, hand, foot and gluteal region, but most commonly in the leg, especially the anterior compartment. The diagnosis of chronic exertional syndrome is primarily based on patients' medical history, supported by intramuscular pressure measurement of the specific compartment involved. Treatment of chronic exertional syndrome, especially the anterior and lateral compartment of the leg is mainly by surgery i.e. fasciotomy. If the patient is reluctant to undergo a surgical procedure, the conservative treatment is based on abstention from the offending activity, changing footwear or using arch support. However, the conservative approach is not as successful as surgical treatment. PMID:24450036

  18. Muir-Torre Syndrome

    PubMed Central

    Feser, Christina; Grekin, Steven

    2016-01-01

    Muir-Torre syndrome is a rare, autosomal dominant genodermatosis characterized by the presence of at least one sebaceous gland neoplasm, associated with an underlying visceral malignancy. Muir-Torre syndrome is believed to be a subtype of Lynch Syndrome. Affected individuals are found to have germline mutations predominantly in DNA mismatch repair gene MSH2, and much less frequently, MLH1. The authors report the case of a 55-year-old woman presenting with multiple cutaneous neoplasms including sebaceoma, basal cell carcinoma, and squamous cell carcinoma; personal history of colorectal and endometrial cancer; and family history of colorectal cancer; found to have a deletion at mismatch repair gene MLH1. It is important to recognize the role of these less common gene deletions in producing the Muir-Torre syndrome phenotype, and consider the correlation of cutaneous manifestations with internal disease. The authors discuss the clinical presentation of Muir-Torre syndrome, methods of diagnosis, and the importance of regular medical surveillance to detect and prevent disease progression in Muir-Torre syndrome patients and their family members. PMID:26962393

  19. Hamartomatous polyposis syndromes: A review

    PubMed Central

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS is characterized by the development of hamartomatous polyps in the gastrointestinal tract as well as several extra-intestinal findings such as dermatological and dysmorphic features or extra-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner. The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family. De novo cases are also frequent. However, because of the discovery of several associated germline-mutations as well as the rapid development in genetics it is now possible to use genetic testing more often in the diagnostic process. Management of the syndromes is different for each syndrome as extra-intestinal symptoms and types of cancers differs. Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications, whereas in adulthood surveillance is recommended due to an increased risk of cancer e.g. intestinal cancer or breast cancer. PMID:25022750

  20. 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.

  1. 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. PMID:23570025

  2. 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 ...

  3. What Are the Treatments for Rett Syndrome?

    MedlinePlus

    ... Resources and Publications What are the treatments for Rett syndrome? Skip sharing on social media links Share this: ... 2012, from http://www.rettsyndrome.org/understanding-rett-syndrome/about-rett-syndrome [top] PubMed Health. (2010). Rett syndrome . Retrieved ...

  4. Building a reliable, scalable and affordable RTC for AO instruments on ELTs

    NASA Astrophysics Data System (ADS)

    Gratadour, Damien; Sevin, Arnaud; Perret, Denis; Brule, Julien

    2013-12-01

    Addressing the unprecedented amount of computing power needed by the ELTs AO instruments real-time controllers (RTC) is one of the key technological developments required for the design of the next generation AO systems. Throughput oriented architectures such as GPUs, providing orders of magnitude greater computational performance than high-end CPUs, have recently appeared as attractive and economically viable candidates since the fast emergence of devices capable of general purpose computing. However, using for real-time applications a I/0 device which cannot be scheduled nor controlled internally by the operating system but is sent commands through a closed source driver comes with a number of challenges. Building on the experience of almost real-time end-to-end simulations using GPUs, and relying on the development of the COMPASS platform, a unified and optimized framework for AO simulations and real-time control, our team has engaged into the development of a scalable, heterogeneous GPU-based prototype for an AO RTC. In this paper, we review the main challenges arising when utilizing GPUs in real-time systems for AO and rank them in terms of impact significance and available solutions. We present our strategy, to mitigate these issues including the general architecture of our prototype, the real-time core and additional dedicated components for data acquisition and distribution. Finally, we discuss the expected performance in terms of latency and jitter on the basis of realistic benchmarks and focusing on the dimensioning of the MICADO AO module RTC.

  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. Parameterising E-ELT AO PSFs for detailed science simulations for HARMONI

    NASA Astrophysics Data System (ADS)

    Zieleniewski, Simon; Thatte, Niranjan

    2013-12-01

    With the first ELTs around the corner it is becoming ever more important to determine observational strategies and assess the prospective success of observing programs prior to making the observations. To this end, scientific simulations need to become more refined to understand the criteria required for a specific science case. We address the science simulations for HARMONI, an AO assisted first light integral field spectrograph (IFS) for the E-ELT. AO PSFs vary markedly as a function of wavelength and type of AO system used, so there is need to create detailed PSFs across all IFS wavelength channels for accurate simulations. Detailed AO simulations have shown that for LTAO on the E-ELT, Strehl ratios can vary from 0.5E-3 in V-band up to 0.5 in K-band. Using a single PSF for an entire datacube (especially with large instantaneous wavelength coverage) could introduce misleading features into simulated observations using HARMONI. We have developed a method to parameterize detailed PSFs using analytical models, which can then be interpolated as a function of wavelength. This allows us to create accurate, but computationally inexpensive, AO PSF datacubes for HARMONI simulations. This shall be developed to cover LTAO, SCAO and GLAO/no-AO PSFs for a range of observing parameters.

  7. Do you know this syndrome?*

    PubMed Central

    Kondo, Rogerio Nabor; Martins, Ligia Márcia Mario; Lopes, Vivian Cristina Holanda; Bittar, Rodrigo Antonio; Araújo, Fernanda Mendes

    2013-01-01

    Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability. PMID:24068150

  8. 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. PMID:25606393

  9. Autoimmune Basis for Postural Tachycardia Syndrome

    ClinicalTrials.gov

    2016-03-30

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

  10. 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

  11. 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…

  12. Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome.

    PubMed

    Graham, John M; Rosner, Beth; Dykens, Elisabeth; Visootsak, Jeannie

    2005-03-15

    CHARGE syndrome, or Hall-Hitner syndrome (HHS), has been delineated as a common syndrome that includes coloboma, choanal atresia, cranial nerve dysfunction (particularly asymmetric facial palsy and neurogenic swallowing problems), characteristic ear abnormalities, deafness with hypoplasia of the cochlea and semicircular canals, genital hypoplasia, and variable heart defects, orofacial clefting, tracheo-esophageal fistula, renal anomalies, thymic/parathyroid hypoplasia, spine anomalies, short broad neck with sloping shoulders, and characteristic facial features. We conducted behavioral and personality assessments in 14 boys with HHS syndrome aged 6-21 years, and compared their characteristics with similar data from 20 age-matched boys with Down syndrome (DS), 17 boys with Prader-Willi syndrome (PWS), and 16 boys with Williams syndrome (WS). We used the Reiss Profile of Fundamental Goals and Motivation Sensitivities, the Achenbach Child Behavior Checklist (CBCL), and the Aberrant Behavior Checklist (ABC). All 14 boys with HHS were legally deaf, and 10 of the 14 were also legally blind. In comparison these other syndromes, boys with HHS had behavior that resembled autistic spectrum disorder. They were socially withdrawn, lacked interest in social contact, and manifested reduced seeking of attention from others, with hyperactivity and a need to maintain order. Though the boys with HHS showed decreased social interaction, they were not as socially impaired as in classic autism. Their language was delayed due to dual sensory impairment, cranial nerve deficits, and chronic medical problems, but their language style was not abnormal (no echolalia or jargon, no scripted phrases, and no pronoun reversal). Boys with HSS appeared frustrated, but they were not aggressive, or at risk for delinquency, manifesting few stereotypic behaviors or unusual preoccupations. They did not have a restricted repertoire of activities and interests. Their behavioral features appeared to be due

  13. Sturge-Weber syndrome.

    PubMed

    Comi, Anne M

    2015-01-01

    Sturge-Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Sturge-Weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. Sturge-Weber syndrome presents at birth with a capillary malformation on the face (port-wine birthmark) with later diagnosis of abnormal vasculature in the eye and the brain which result in a range of complications. The underlying somatic mosaic mutation causing both Sturge-Weber syndrome and isolated port-wine birthmarks was recently discovered and is an activating mutation in GNAQ. When a newborn presents with a facial port-wine birthmark on the upper face, that child has a 15-50% risk of developing Sturge-Weber syndrome brain and/or eye involvement, depending on the extent of the birthmark, and close monitoring and appropriate screening is essential for early diagnosis and optimal treatment. Treatment options include laser therapy for lightening of the birthmark, eye drops and surgery for glaucoma management, and aggressive anticonvulsant treatment, low dose aspirin, and neurosurgery where necessary. Future possible treatments based upon new knowledge of the somatic mutation and downstream pathways are currently being considered and studied. PMID:26564078

  14. 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

  15. Management of Neuroacanthocytosis Syndromes

    PubMed Central

    Walker, Ruth H.

    2015-01-01

    Background The two core neuroacanthocytosis (NA) syndromes, chorea-acanthocytosis (ChAc) and McLeod syndrome, are progressive neurodegenerative disorders that primarily affect the basal ganglia. The characteristic phenotype comprises a variety of movement disorders including chorea, dystonia, and parkinsonism, as well as psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. These disorders are symptomatically managed on a case-by-case basis, with very few practitioners seeing more than a single case in their careers. Methods A literature search was performed on PubMed utilizing the terms neuroacanthocytosis, chorea-acanthocytosis, and McLeod syndrome, and articles were reviewed for mentions of therapies, successful or otherwise. Results There have been no blinded, controlled trials and only one retrospective case series describing ChAc. The various therapies that have been used in patients with NA syndromes are summarized. Discussion Management remains at present purely symptomatic, which is similar in principle to other more common basal ganglia neurodegenerative disorders such as Huntington’s disease (HD) and Parkinson’s disease (PD). However, there are some specific issues particular to NA syndromes that merit attention. An integrated multidisciplinary approach is the ideal management strategy for these complex and multifaceted neurodegenerative disorders. PMID:26504667

  16. Complex regional pain syndrome.

    PubMed

    Bruehl, Stephen

    2015-01-01

    Complex regional pain syndrome is a chronic pain condition characterized by autonomic and inflammatory features. It occurs acutely in about 7% of patients who have limb fractures, limb surgery, or other injuries. Many cases resolve within the first year, with a smaller subset progressing to the chronic form. This transition is often paralleled by a change from "warm complex regional pain syndrome," with inflammatory characteristics dominant, to "cold complex regional pain syndrome" in which autonomic features dominate. Multiple peripheral and central mechanisms seem to be involved, the relative contributions of which may differ between individuals and over time. Possible contributors include peripheral and central sensitization, autonomic changes and sympatho-afferent coupling, inflammatory and immune alterations, brain changes, and genetic and psychological factors. The syndrome is diagnosed purely on the basis of clinical signs and symptoms. Effective management of the chronic form of the syndrome is often challenging. Few high quality randomized controlled trials are available to support the efficacy of the most commonly used interventions. Reviews of available randomized trials suggest that physical and occupational therapy (including graded motor imagery and mirror therapy), bisphosphonates, calcitonin, subanesthetic intravenous ketamine, free radical scavengers, oral corticosteroids, and spinal cord stimulation may be effective treatments. Multidisciplinary clinical care, which centers around functionally focused therapies is recommended. Other interventions are used to facilitate engagement in functional therapies and to improve quality of life. PMID:26224572

  17. THE HEPATOPULMONARY SYNDROME

    PubMed Central

    NACIF, Lucas Souto; ANDRAUS, Wellington; PINHEIRO, Rafael Soares; DUCATTI, Liliana; HADDAD, Luciana BP; D'ALBUQUERQUE, Luiz Carneiro

    2014-01-01

    Introduction The hepatopulmonary syndrome has been acknowledged as an important vascular complication in lungs developing systemic hypoxemia in patients with cirrhosis and portal hypertension. Is formed by arterial oxygenation abnormalities induced from intrapulmonary vascular dilatations with liver disease. It is present in 4-32% of patients with cirrhosis. It increases mortality in the setting of cirrhosis and may influence the frequency and severity. Initially the hypoxemia responds to low-flow supplemental oxygen, but over time, the need for oxygen supplementation is necessary. The liver transplantation is the only effective therapeutic option for its resolution. Aim To update clinical manifestation, diagnosis and treatment of this entity. Method A literature review was performed on management of hepatopulmonary syndrome. The electronic search was held of the Medline-PubMed, in English crossing the headings "hepatopulmonary syndrome", "liver transplantation" and "surgery". The search was completed in September 2013. Results Hepatopulmonary syndrome is classically defined by a widened alveolar-arterial oxygen gradient (AaPO2) on room air (>15 mmHg, or >20 mmHg in patients >64 years of age) with or without hypoxemia resulting from intrapulmonary vasodilatation in the presence of hepatic dysfunction or portal hypertension. Clinical manifestation, diagnosis, classification, treatments and outcomes are varied. Conclusion The severity of hepatopulmonary syndrome is an important survival predictor and determine the improvement, the time and risks for liver transplantation. The liver transplantation still remains the only effective therapeutic. PMID:25004294

  18. Genetics Home Reference: Kleefstra syndrome

    MedlinePlus

    ... Resources (1 link) National Human Genome Research Institute: Chromosome Abnormalities Educational Resources (5 links) Centers for Disease Control and Prevention: Intellectual Disability Disease InfoSearch: Chromosome 9q Deletion Syndrome MalaCards: kleefstra syndrome Orphanet: Kleefstra ...

  19. 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 ...

  20. 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. ...

  1. Genetics Home Reference: Cowden syndrome

    MedlinePlus

    ... conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had ... represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions. ...

  2. Genetic Features of Turner Syndrome

    MedlinePlus

    ... Current Studies Publications Lab Staff Contact Info Links Genetic Features Quick Navigation Introduction X-monosomy X-mosaicism ... Figure 3. X Chromosome Abnormalities Figure 4. Mosaicism Genetic Features of Turner Syndrome Turner syndrome is a ...

  3. Syndromic disorders with short stature.

    PubMed

    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

  4. Genetics Home Reference: FG syndrome

    MedlinePlus

    ... family diagnosed with the disorder. FG syndrome affects intelligence and behavior. Almost everyone with the condition has ... detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. Am ...

  5. Genetics Home Reference: cardiofaciocutaneous syndrome

    MedlinePlus

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome Enable ...

  6. Irregular sleep-wake syndrome

    MedlinePlus

    Sleep-wake syndrome - irregular ... routine during the day. The amount of total sleep time is normal, but the body clock loses ... have a different condition, such as shift work sleep disorder or jet lag syndrome.

  7. Wolff-Parkinson-White syndrome

    MedlinePlus

    Wolff-Parkinson-White syndrome is a condition in which there is an extra electrical pathway of the heart. The ... to periods of rapid heart rate ( tachycardia ). Wolff-Parkinson-White syndrome is one of the most common ...

  8. Genetics Home Reference: Timothy syndrome

    MedlinePlus

    ... cause irregular heartbeats (arrhythmia), which can lead to sudden death. Many people with Timothy syndrome are also born ... syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does ...

  9. Osler-Weber-Rendu syndrome

    MedlinePlus

    ... syndrome URL of this page: //medlineplus.gov/ency/article/000837.htm Osler-Weber-Rendu ... syndrome is inherited, which means it is passed down through families. Scientists have identified 4 genes involved in this condition. ...

  10. Genetics Home Reference: GRACILE syndrome

    MedlinePlus

    ... syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis). They also have kidney problems that lead to an excess of molecules called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome ...

  11. [DRESS syndrome induced by ciprofloxacine].

    PubMed

    Sahnoun, Rym; El Aïdli, Sihem; Zaïem, Ahmed; Lakhoua, Ghozlane; Kastalli, Sarrah; Daghfous, Riadh

    2015-04-01

    The Drug rash with hypereosinophilia and systemic symptoms (DRESS) syndrome, or hypersensitivity syndrome, is a severe drug-induced hypersensitivity syndrome. It has been exceptionally described with ciprofloxacin. We report a 47-year-old-woman who developed DRESS syndrome, 2 days after taking ciprofloxacin for a urinary infection. She had a generalized maculopapular rash, severe rhabdomyolysis, liver involvement, renal failure and hypereosinophilia. Clinical symptoms had completely resolved after ciprofloxacin withdrawal. Renal failure has decrease after short corticosteroid treatment. PMID:25680964

  12. Treatment Option Overview (Myelodysplastic Syndromes)

    MedlinePlus

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

  13. Treatment Options for Myelodysplastic Syndromes

    MedlinePlus

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

  14. General Information about Myelodysplastic Syndromes

    MedlinePlus

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

  15. 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. PMID:26603476

  16. [Orthostatic intolerance syndromes].

    PubMed

    Gónzalez-Hermosillo, J A

    2001-01-01

    In patients with an orthostatic intolerance, the hemodynamic response to standing, may identify an abnormality know as postural orthostatic tachycardia syndrome or orthostatic hypotension, that can often be treated without further testing. When the response to standing is normal, tilt-table testing may be useful in making the diagnosis of vasovagal syncope or postural orthostatic tachycardia syndrome and guiding treatment. In evaluating the results of tilt-table testing, an important consideration is the distinction between vasovagal syncope, and the dysautonomic response to tilt characterized by a gradual and progressive decrease in blood pressure that leads to syncope. Current practice patterns suggest that beta blockers, fludrocortisone, and midodrine are commonly used to treat patients with vasovagal syncope. These also suggest that patients with the postural orthostatic tachycardia syndrome, and with the dysautonomic response, are better treated with fludrocortisone and midodrine. PMID:11565347

  17. Loin pain hematuria syndrome

    PubMed Central

    Zubair, Adeel S.; Salameh, Hassan; Erickson, Stephen B.; Prieto, Mikel

    2016-01-01

    Loin pain hematuria syndrome (LPHS), first described in 1967, is a rare pain syndrome, which is not well understood. The syndrome is characterized by severe intermittent or persistent flank pain, either unilateral or bilateral, associated with gross or microscopic hematuria. LPHS is a diagnosis of exclusion as there still is not a consensus of validated diagnostic criteria, though several criteria have been proposed. The wide differential diagnosis would suggest a meticulous yet specific diagnostic work-up depending on the individual clinical features and natural history. Several mechanisms regarding the pathophysiology of LPHS have been proposed but without pinpointing the actual causative etiology, the treatment remains symptomatic. Treatment modalities for LPHS are diverse including simple analgesia, opioid analgesic and kidney autotransplantation. This review article summarizes the current understanding regarding the pathophysiology of LPHS along with the steps required for proper diagnosis and a discussion of the different therapeutic approaches for LPHS. PMID:26798473

  18. Joint hypermobility syndrome pain.

    PubMed

    Grahame, Rodney

    2009-12-01

    Joint hypermobility syndrome (JHS) was initially defined as the occurrence of musculoskeletal symptoms in the presence of joint laxity and hypermobility in otherwise healthy individuals. It is now perceived as a commonly overlooked, underdiagnosed, multifaceted, and multisystemic heritable disorder of connective tissue (HDCT), which shares many of the phenotypic features of other HDCTs such as Marfan syndrome and Ehlers-Danlos syndrome. Whereas the additional flexibility can confer benefits in terms of mobility and agility, adverse effects of tissue laxity and fragility can give rise to clinical consequences that resonate far beyond the confines of the musculoskeletal system. There is hardly a clinical specialty to be found that is not touched in one way or another by JHS. Over the past decade, it has become evident that of all the complications that may arise in JHS, chronic pain is arguably the most menacing and difficult to treat. PMID:19889283

  19. 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

  20. Fat embolism syndrome.

    PubMed

    Taviloglu, Korhan; Yanar, Hakan

    2007-01-01

    Fat embolism syndrome (FES) was first described in 1862, but its frequency today is still unclear. A diagnosis of FES is often missed because of a subclinical illness or coexisting confusing injuries or disease. Fat embolism syndrome develops most commonly after orthopedic injuries, but it has also been reported after other forms of trauma such as severe burns, liver injury, closed-chest cardiac massage, bone marrow transplantation, and liposuction. Although FES usually presents as a multisystem disorder, the most seriously affected organs are the lung, brain, cardiovascular system, and skin. Fat embolism syndrome is a self-limiting disease and treatment should be mainly supportive. Many drugs have been used to treat FES, but the results are inconclusive. PMID:17186337

  1. Lemierre’s syndrome

    PubMed Central

    2013-01-01

    Lemierre’s syndrome is a condition characterized by thrombophlebitis of the internal jugular vein and bacteremia caused by primarily anaerobic organisms, following a recent oropharyngeal infection. This has been an uncommon illness in the era of antibiotic therapy, though it has been reported with increasing frequency in the past 15 years. Lemierre’s syndrome should be suspected in young healthy patients with prolonged symptoms of pharyngitis followed by symptoms of septicemia or pneumonia, or an atypical lateral neck pain. Diagnosis is often confirmed by identification of thrombophlebitis of the internal jugular vein and growth of anaerobic bacteria on blood culture. Treatment involves prolonged antibiotic therapy occasionally combined with anticoagulation. We review the literature and a case of a child with Lemierre’s syndrome. PMID:24152679

  2. 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

  3. Loin pain hematuria syndrome.

    PubMed

    Zubair, Adeel S; Salameh, Hassan; Erickson, Stephen B; Prieto, Mikel

    2016-02-01

    Loin pain hematuria syndrome (LPHS), first described in 1967, is a rare pain syndrome, which is not well understood. The syndrome is characterized by severe intermittent or persistent flank pain, either unilateral or bilateral, associated with gross or microscopic hematuria. LPHS is a diagnosis of exclusion as there still is not a consensus of validated diagnostic criteria, though several criteria have been proposed. The wide differential diagnosis would suggest a meticulous yet specific diagnostic work-up depending on the individual clinical features and natural history. Several mechanisms regarding the pathophysiology of LPHS have been proposed but without pinpointing the actual causative etiology, the treatment remains symptomatic. Treatment modalities for LPHS are diverse including simple analgesia, opioid analgesic and kidney autotransplantation. This review article summarizes the current understanding regarding the pathophysiology of LPHS along with the steps required for proper diagnosis and a discussion of the different therapeutic approaches for LPHS. PMID:26798473

  4. 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. PMID:16224109

  5. Paraneoplastic nervous system syndromes.

    PubMed

    Jaeckle, K A

    1996-05-01

    Recent progress in the understanding of the paraneoplastic neurologic syndromes has included further deliniation of the clinical syndromes and their treatment, attempts at standardization of the diagnostic nomenclature, investigations of pathogenetic mechanisms, and molecular characterization of the paraneoplastic antigens with implications as to their biologic relevance. Despite more than 30 years of investigation, the pathogenesis of these presumably autoimmune conditions remains unclear. Furthermore, no effective therapy has been identified for these conditions, with the possible exception of the opsoclonus-myoclonus ataxia and Lambert-Eaton myasthenic syndromes. Future investigations must focus on the disrupted genetic regulatory events involved in generation and propagation of the autoimmune response, antigen presentation and processing; target cell destruction, and consideration of alternative pathologic causes. Effective management strategies are most likely to develop from a better understanding of the disease pathogenesis, the development of animal model systems, and a creative look beyond the usual therapies employed in autoimmune conditions. PMID:8794147

  6. Parsonage-Turner Syndrome

    PubMed Central

    Radecki, Jeffrey

    2010-01-01

    Parsonage-Turner Syndrome (PTS), also referred to as idiopathic brachial plexopathy or neuralgic amyotrophy, is a rare disorder consisting of a complex constellation of symptoms with abrupt onset of shoulder pain, usually unilaterally, followed by progressive neurologic deficits of motor weakness, dysesthesias, and numbness. Although the etiology of the syndrome is unclear, it is reported in various clinical situations, including postoperatively, postinfectious, posttraumatic, and postvaccination. The identification of the syndrome in the postoperative patient remains a challenge as symptoms may easily be attributed to sequelae of surgical positioning, postoperative recovery, or postanesthetic block pain. The purpose of this review is to bring forth salient, identifiable factors which may assist the surgical clinician in identifying the condition sooner. An early and proper diagnosis affords the opportunity to treat the patient accordingly and to the satisfaction of both surgeon and patient. PMID:21886536

  7. 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…

  8. CHARGE Syndrome: An Educators' Primer

    ERIC Educational Resources Information Center

    Smith, Katherine G.; Smith, Isabel M.; Blake, Kim

    2010-01-01

    This paper introduces educators to CHARGE syndrome (CS), a multiple anomaly developmental syndrome that is usually accompanied by some degree of hearing and visual impairment. We describe the defining medical characteristics of the syndrome, and following this, outline the behavioral features commonly seen in individuals with CS. Throughout, we…

  9. 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…

  10. 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. PMID:26967958

  11. Genetic Syndromes Associated with Craniosynostosis.

    PubMed

    Ko, Jung Min

    2016-05-01

    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

  12. Apert Syndrome: A Case Report

    PubMed Central

    Chatra, Laxmikanth; Shenai, Prashanth; Veena, KM

    2012-01-01

    Abstract Apert syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malformation and symmetrical syndactyly. We present a 10-month-old infant having all the features of classical Apert syndrome. How to cite this article: Khan S, Chatra L, Shenai P, Veena KM. Apert Syndrome: A Case Report. Int J Clin Pediatr Dent 2012; 5(3):203-206. PMID:25206168

  13. Guide to Understanding Apert Syndrome

    MedlinePlus

    ... normal. This one tiny change in the FGFR2 gene results in the physical features of Apert syndrome.” who is involved in the treatment of Apert syndrome? i deally, treatment of Apert syndrome begins at birth with accurate diagnosis, identification of the child's individual needs, and the proper ...

  14. Down Syndrome. ERIC Digest #457.

    ERIC Educational Resources Information Center

    Manfredini, Dianne

    This information sheet briefly describes the history of the identification of Down Syndrome, its prenatal diagnosis, characteristics of individuals with Down Syndrome, its causes, its rate of occurrence and recurrence, its impact on child development, and recommended content of education programs for children with Down Syndrome. A list of seven…

  15. Atypical Cogan's syndrome mimicking encephalitis.

    PubMed

    Lepur, Dragan; Vranjican, Zoran; Himbele, Josip; Barsić, Bruno; Klinar, Igor

    2004-01-01

    Cogan's syndrome is a rare autoimmune multisystem disease. The main clinical features of typical Cogan's syndrome are vestibuloauditory dysfunction and interstitial keratitis. The authors present a case of atypical Cogan's syndrome with headache, fever, deafness, trigeminal neuralgia and electroencephalographic abnormality which mimicked viral encephalitis. PMID:15307593

  16. 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)

  17. 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…

  18. 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

  19. Cardiofaciocutaneous Syndrome: A Rare Entity

    PubMed Central

    Pavithra, S; Mallya, H; Pai, G S

    2012-01-01

    The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome. PMID:22837569

  20. Anorectal malformations and Down syndrome.

    PubMed

    Zlotogora, J; Abu-Dalu, K; Lernau, O; Sagi, M; Voss, R; Cohen, T

    1989-11-01

    During 1980 to 1986, 89 children with Down syndrome and 42 with imperforate anus were diagnosed among 64,870 liveborn infants in the Jewish population of Jerusalem. Two of the children had both Down syndrome and imperforate anus. This indicates a high incidence of imperforate anus among children with Down syndrome (2.2%). PMID:2531980

  1. 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

  2. Marfan syndrome: current perspectives

    PubMed Central

    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

  3. Challenging pain syndromes: Parsonage-Turner syndrome.

    PubMed

    Smith, Clark C; Bevelaqua, Anna-Christina

    2014-05-01

    Parsonage-Turner syndrome (PTS) is a rare disorder typically characterized by an abrupt onset of upper extremity pain followed by progressive neurologic deficits, including weakness, atrophy, and occasionally sensory abnormalities. The exact cause and pathophysiology of PTS are complex and incompletely understood. Autoimmune, genetic, infectious, and mechanical processes have all been implicated. No specific treatments have been proven to reduce neurologic impairment or improve the prognosis of PTS. Most patients with PTS are treated with a multidisciplinary approach that includes both physical therapy and pharmacologic treatment, often with multiple agents. Further research is needed. PMID:24787332

  4. Understanding Thoracic Outlet Syndrome

    PubMed Central

    Freischlag, Julie

    2014-01-01

    The diagnosis of thoracic outlet syndrome was once debated in the world of vascular surgery. Today, it is more understood and surprisingly less infrequent than once thought. Thoracic outlet syndrome (TOS) is composed of three types: neurogenic, venous, and arterial. Each type is in distinction to the others when considering patient presentation and diagnosis. Remarkable advances have been made in surgical approach, physical therapy, and rehabilitation of these patients. Dedicated centers of excellence with multidisciplinary teams have been developed and continue to lead the way in future research. PMID:25140278

  5. Burning Mouth Syndrome.

    PubMed

    Klasser, Gary D; Grushka, Miriam; Su, Nan

    2016-08-01

    Burning mouth syndrome (BMS) is an enigmatic, misunderstood, and under-recognized painful condition. Symptoms associated with BMS can be varied, thereby providing a challenge for practitioners and having a negative impact on oral health-related quality of life for patients. Management also remains a challenge for practitioners because it is currently only targeted for symptom relief without a definitive cure. There is an urgent need for further investigations to determine the efficacy of different therapies because this is the only way viable therapeutic options can be established for patients with this chronic and painful syndrome. PMID:27475513

  6. Alagille syndrome: clinical perspectives.

    PubMed

    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

  7. [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. PMID:7652089

  8. 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

  9. Obesity Hypoventilation Syndrome

    PubMed Central

    Shetty, Safal

    2015-01-01

    Obesity hypoventilation syndrome is a respiratory consequence of morbid obesity that is characterized by alveolar hypoventilation during sleep and wakefulness. The disorder involves a complex interaction between impaired respiratory mechanics, ventilatory drive and sleep-disordered breathing. Early diagnosis and treatment is important, because delay in treatment is associated with significant mortality and morbidity. Available treatment options include non-invasive positive airway pressure (PAP) therapies and weight loss. There is limited long-term data regarding the effectiveness of such therapies. This review outlines the current concepts of clinical presentation, diagnostic and management strategies to help identify and treat patients with obesity-hypoventilation syndromes. PMID:26029497

  10. [Alport's syndrome (author's transl)].

    PubMed

    Huismans, H

    1978-05-01

    A case report is given of a 22-years old student (whose brother had Alport's syndrome) with recurrent central corneal swelling and paracentral erosions of the cornea of both eyes. Further signs of beginning Alport's syndrome in this case are disturbance of re-adaptation after dazzling (Mesoptometer) and paracentral scotomata in the visual fields. Remarkable was the small diameter of the disc in both eyes (1.37 mm). Local therapy was Scopolamin-eye-drops, Actihaemyl- and especially Cystein-Gel (2.4%). PMID:672101

  11. Syndrome in Question*

    PubMed Central

    Tonolli, Vanessa Mello; Stolf, Hamilton Ometto; Tonello, Cláudio Sampieri; Pires, Rafaelle Batistella; Abbade, Luciana Patricia Fernandes

    2014-01-01

    Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents. PMID:24770526

  12. [Donohue syndrome or leprechaunism].

    PubMed

    Planchenault, D; Martin-Coignard, D; Rugemintwaza, D; Bah, A-G; Cosson, L; Labarthe, F; Chantepie, A; Saliba, E

    2014-02-01

    Donohue syndrome or leprechaunism is a severe congenital insulin-resistance syndrome. It is characterized by intra-uterine and neonatal growth retardation, typical dysmorphic features, and metabolic abnormalities with hyperinsulinism and hyperandrogenism. Problems in energy metabolism and loss of glucose homeostasis are responsible for early death in the first year of life. We describe a case with a novel homozygote mutation in the insulin receptor gene. This patient had hypertrophic cardiomyopathy with heart failure and bronchial compression leading to clinical deterioration over 5 days and subsequently death. A treatment with recombinant IGF-1 was tried without efficacy. PMID:24388461

  13. Pulmonary Alveolar Proteinosis Syndrome.

    PubMed

    Suzuki, Takuji; Trapnell, Bruce C

    2016-09-01

    Pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by the accumulation of surfactant in alveoli and terminal airways resulting in respiratory failure. PAP comprises part of a spectrum of disorders of surfactant homeostasis (clearance and production). The surfactant production disorders are caused by mutations in genes required for normal surfactant production. The PAP syndrome is identified based on history, radiologic, and bronchoalveolar lavage and/or histopathologic findings. The diagnosis of PAP-causing diseases in secondary PAP requires further studies. Whole-lung lavage is the current standard therapy and promising new pharmacologic therapies are in development. PMID:27514590

  14. Wolcott-Rallison syndrome.

    PubMed

    Juneja, A; Sultan, A; Bhatnagar, S

    2012-01-01

    Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) is a rare autosomal recessive disorder that manifests itself in early infancy with symptoms of diabetes mellitus. Short stature and walking difficulties become evident in the 2 nd year of life when the child starts to walk. These skeletal changes are progressive with age. There is usually a short trunk, excessive lordosis, a short and broad chest, and genu valgum. This report presents a case of Wolcott-Rallison syndrome in a 10 year old child. PMID:23263430

  15. Syndrome in question.

    PubMed

    Rebellato, Priscila Regina Orso; Rezende, Camila Makino; Battaglin, Eveline Roesler; Lima, Brunno Zeni de; Fillus Neto, Jose

    2015-01-01

    Morbihan Syndrome is a rare entity with unknown etiology. It is clinically characterized by chronic erythematous edema on the face - especially in the middle and upper third of the face - and creates abnormal facial contours that are initially intermitent but become permanent with the development of the syndrome. The histopathology is nonspecific and its therapy is a major challenge due to poor response to the various treatment options. We present the case of a male patient with a five-month-history of disease. PMID:26734879

  16. Syndrome in question*

    PubMed Central

    Rebellato, Priscila Regina Orso; Rezende, Camila Makino; Battaglin, Eveline Roesler; de Lima, Brunno Zeni; Fillus Neto, Jose

    2015-01-01

    Morbihan Syndrome is a rare entity with unknown etiology. It is clinically characterized by chronic erythematous edema on the face - especially in the middle and upper third of the face - and creates abnormal facial contours that are initially intermitent but become permanent with the development of the syndrome. The histopathology is nonspecific and its therapy is a major challenge due to poor response to the various treatment options. We present the case of a male patient with a five-month-history of disease. PMID:26734879

  17. Hypocomplementemic Urticarial Vasculitis Syndrome

    PubMed Central

    Christensen, Jim; McCarty, Morgan

    2012-01-01

    Hypocomplementemic urticarial vasculitis syndrome, as opposed to urticarial vasculitis or urticarial vasculitis syndrome, is a rare disease process where the exact pathophysiology remains unknown. This article discusses the case of a 34-year-old Hispanic man with an ongoing history of chronic urticaria comprising episodes induced by low ambient temperatures, emotional stress, and spontaneous occurrences. This article serves as a consolidated reference for specialists to comprehensively review the plethora of systemic manifestations that may accompany urticarial vasculitis and highlights new systemic complications reported in association with this disease which are also observed in this case. PMID:22328958

  18. Juvenile Reiter's syndrome.

    PubMed

    Conaglen, J; Grennan, D M; Signal, T; McArthur, J E; Lucas, R; Palmer, D G

    1979-04-01

    A case of Reiter's syndrome occurring in an 11-year-old, pre-pubertal boy is described. The boy was a heterozygote for the histocompatibility antigen B27 and other arthritic members of his family included his mother with colitic arthritis and an aunt with ankylosing spondylitis. His HLA-B27 negative sibs have remained well. Shigella Salmonella and Yersinia organisms have been previously incriminated as precipitating factors in some patients with Reiter's syndrome but no evidence of recent infection with any of these agents was found in this patient. The case is reported because of the rarity of the condition at this age. PMID:287465

  19. Hair tourniquet syndrome: revisited

    PubMed Central

    HUSSIN, P.; MAWARDI, M.; MASRAN, M.S.; GANAISAN, P.

    2015-01-01

    Hair tourniquet syndrome is a rare condition. It is an important emergency condition where urgent attention is needed. In this condition, body appendages are strangulated by hair that acts like a tourniquet. A strand or strands of hair act like a circumferential constriction band and subsequently strangulate the body appendages. Commonly affected sites include fingers, toes or even genitals. Failure to identify and release the acute constriction may result in amputation of affected body part. We report two cases of hair tourniquet syndrome of the thumb and toe that were successfully released without complications. PMID:26712259

  20. Chronic cough hypersensitivity syndrome

    PubMed Central

    2013-01-01

    Chronic cough has been suggested to be due to three conditions, asthma, post nasal drip, and reflux disease. A different paradigm has evolved in which cough is viewed as the primary condition characterised by afferent neuronal hypersensitivity and different aspects of this syndrome are manifest in the different phenotypes of cough. There are several advantages to viewing cough hypersensitivity as the unifying diagnosis; Communication with patients is aided, aetiology is not restricted and therapeutic avenues opened. Cough Hypersensitivity Syndrome is a more applicable label to embrace the clinical manifestations of this disabling disease. PMID:23668427