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Sample records for holt-oram syndrome hos

  1. Holt Oram syndrome : a registry-based study in Europe

    NARCIS (Netherlands)

    Barisic, Ingeborg; Boban, Ljubica; Greenlees, Ruth; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke E. H.; Braz, Paula; Budd, Judith L. S.; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; McDonnell, Bob; Nelen, Vera; Pierini, Anna; Queisser-Wahrendorf, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Dolk, Helen

    2014-01-01

    Background: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. Methods: The

  2. A genetic Assay of Three Patients in the Same Family with Holt-Oram Syndrome; a Case Report

    Directory of Open Access Journals (Sweden)

    Reza Ebrahimzadeh-Vesal

    2013-10-01

    Full Text Available Holt-Oram syndrome (HOS is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V in exon 7 of the TBX5 gene. This nucleotide change causes no amino acid change and potential pathologic effects remain unknown.

  3. Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation

    Directory of Open Access Journals (Sweden)

    Rupesh Kumar

    2014-01-01

    Full Text Available Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders is the Holt-Oram syndrome, which is characterized by septal defects of the heart and preaxial radial ray abnormalities. Its incidence is one in 100,000 live births. Approximately three out of four patients have some cardiac abnormality with common associations being either an atrial septal defect or ventricular septal defect. Herein, we report a rare sporadic case of Holt-Oram syndrome with atrial septal defect with symptoms of heart failure in a forty-five-year-old lady who underwent emergency cardiac surgery for the symptoms.

  4. A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome.

    Science.gov (United States)

    Morine, Mikio; Kohmoto, Tomohiro; Masuda, Kiyoshi; Inagaki, Hidehito; Watanabe, Miki; Naruto, Takuya; Kurahashi, Hiroki; Maeda, Kazuhisa; Imoto, Issei

    2015-12-01

    Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and congenital heart defects and caused by numerous germline mutations of TBX5 producing preterminal stop codons. Here, we report on a novel and unusual heterozygous TBX5 microdeletion with microinsertion (microindel) mutation (c.627delinsGTGACTCAGGAAACGCTTTCCTGA), which is predicted to synthesize a truncated TBX5 protein, detected in a sporadic patient with clinical features of HOS prenatally diagnosed by ultrasonography. This uncommon and relatively large inserted sequence contains sequences derived from nearby but not adjacent templates on both sense and antisense strands, suggesting two possible models, which require no repeat sequences, causing this complex microindel through the bypass of large DNA adducts via an error-prone DNA polymerase-mediated translesion synthesis. © 2015 Wiley Periodicals, Inc.

  5. Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome

    Directory of Open Access Journals (Sweden)

    Marianna P.R. Porto

    2010-01-01

    Full Text Available The Holt-Oram syndrome (HOS is an autosomal dominant condition characterized by upper limb and cardiac malformations. Mutations in the TBX5 gene cause HOS and have also been associated with isolated heart and arm defects. Interactions between the TBX5, GATA4 and NKX2.5 proteins have been reported in humans. We screened the TBX5, GATA4, and NKX2.5 genes for mutations, by direct sequencing, in 32 unrelated patients presenting classical (8 or atypical HOS (1, isolated congenital heart defects (16 or isolated upper-limb malformations (7. Pathogenic mutations in the TBX5 gene were found in four HOS patients, including two new mutations (c.374delG; c.678G > T in typical patients, and the hotspot mutation c.835C > T in two patients, one of them with an atypical HOS phenotype involving lower-limb malformations. Two new mutations in the GATA4 gene were found in association with isolated upper-limb malformations, but their clinical significance remains to be established. A previously described possibly pathogenic mutation in the NKX2.5 gene (c.73C > 7 was detected in a patient with isolated heart malformations and also in his clinically normal father.

  6. Prostate cancer in a male with Holt-Oram syndrome: first clinical association of the TBX5 mutation.

    LENUS (Irish Health Repository)

    Aherne, Noel J

    2013-08-05

    Holt-Oram syndrome is an autosomal dominant disorder which is caused by mutations of TBX5 and is characterised by cardiac and skeletal abnormalities. TBX5 is part of the T-box gene family and is thought to upregulate tumour cell proliferation and metastasis when mutated. We report the first clinical case of prostate cancer in an individual with Holt Oram syndrome.

  7. An unusual type of congenital heart disease associated with the Holt-Oram-Syndrome

    International Nuclear Information System (INIS)

    Ruzic, B.; Bosnar, B.; Beleznay, O.

    1981-01-01

    Case report of a very rare case of Holt-Oram-Syndrome (in a seven months old baby) associated with tricuspid atresia (itself a rare condition of isolated congenital heart desease) and anomalous return of pulmonary vein into the right atrium. According to the classification based on anatomy, our case corresponds to type Ia. The diagnosis was confirmed clinically, electrocardiographically, radiologically and angiographically. (orig.) [de

  8. Recursive Trees for Practical ORAM

    Directory of Open Access Journals (Sweden)

    Moataz Tarik

    2015-06-01

    Full Text Available We present a new, general data structure that reduces the communication cost of recent tree-based ORAMs. Contrary to ORAM trees with constant height and path lengths, our new construction r-ORAM allows for trees with varying shorter path length. Accessing an element in the ORAM tree results in different communication costs depending on the location of the element. The main idea behind r-ORAM is a recursive ORAM tree structure, where nodes in the tree are roots of other trees. While this approach results in a worst-case access cost (tree height at most as any recent tree-based ORAM, we show that the average cost saving is around 35% for recent binary tree ORAMs. Besides reducing communication cost, r-ORAM also reduces storage overhead on the server by 4% to 20% depending on the ORAM’s client memory type. To prove r-ORAM’s soundness, we conduct a detailed overflow analysis. r-ORAM’s recursive approach is general in that it can be applied to all recent tree ORAMs, both constant and poly-log client memory ORAMs. Finally, we implement and benchmark r-ORAM in a practical setting to back up our theoretical claims.

  9. Download this PDF file

    African Journals Online (AJOL)

    Coffin Lowry Sydrome. Diastrophic Dysplasia. Sydrome. E.E.C. syndrome. Epidermolysis Bullosa. Fanconi syndrome. Focal Dermal Hypoplasia. Goldenhar syndrome. Hand-Foot-genital syndrome. Hanhart syndrome. Holt-Oram syndrome. Klipple-Feil Sydrome. Laurence Moon Sydrome. Marfan syndrome. Meckel Sydrome.

  10. JOS JOURNAL 1

    African Journals Online (AJOL)

    1 syndrome of congenital anomalies. These syndromes include Holt-Oram syndrome, Down's syndrome, Fanconi Polycytemia, Meckel syndrome, Lawrence Moon Biedl syndrome,. Patau's syndrome and klippel-Trenaunay syndrome. There may also be associated cleft palate, hearing difficulties, renal anomalies, other. 3.

  11. Genetics Home Reference: Holt-Oram syndrome

    Science.gov (United States)

    ... 20 [updated 2015 Oct 8]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  12. Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein

    Directory of Open Access Journals (Sweden)

    Ekman-Joelsson Britt-Marie

    2008-10-01

    Full Text Available Abstract Background Autosomal dominant Holt-Oram syndrome (HOS is caused by mutations in the TBX5 gene and is characterized by congenital heart and preaxial radial ray upper limb defects. Most of the TBX5 mutations found in patients with HOS cause premature truncation of the primary TBX5 transcript. TBX5 missense mutations alter the three-dimensional structure of the protein and result in failed nuclear localization or reduced binding to target DNA. In this study we present our functional analyses of the novel and unusual c.1333delC mutation found in a patient with classical HOS. Methods The functional impact of this novel mutation was assessed by investigating the intracellular localization of the resulting TBX5 protein and its ability to activate the expression of its downstream target ANF. Results The deletion of the cytosine is the first TBX5 frameshift mutation predicted to result in an elongated TBX5 protein with 74 miscoding amino acids and 62 supernumerary C-terminal amino acids. The c.1333delC mutation affects neither the nuclear localization, nor its colocalization with SALL4, but severely affects the activation of the ANF promoter. Conclusion The mutation c.1333delC does not locate within functional domains, but impairs the activation of the downstream target. This suggests that misfolding of the protein prevents its biological function.

  13. The heartstrings mutation in zebrafish causes heart/fin Tbx5 deficiency syndrome.

    Science.gov (United States)

    Garrity, Deborah M; Childs, Sarah; Fishman, Mark C

    2002-10-01

    Holt-Oram syndrome is one of the autosomal dominant human "heart-hand" disorders, with a combination of upper limb malformations and cardiac defects. Holt-Oram syndrome is caused by mutations in the TBX5 gene, a member of a large family of T-box transcription factors that play important roles in cell-type specification and morphogenesis. In a screen for mutations affecting zebrafish cardiac function, we isolated the recessive lethal mutant heartstrings, which lacks pectoral fins and exhibits severe cardiac dysfunction, beginning with a slow heart rate and progressing to a stretched, non-functional heart. We mapped and cloned the heartstrings mutation and find it to encode the zebrafish ortholog of the TBX5 gene. The heartstrings mutation causes premature termination at amino acid 316. Homozygous mutant embryos never develop pectoral fin buds and do not express several markers of early fin differentiation. The total absence of any fin bud differentiation distinguishes heartstrings from most other mutations that affect zebrafish fin development, suggesting that Tbx5 functions very early in the pectoral fin induction pathway. Moderate reduction of Tbx5 by morpholino causes fin malformations, revealing an additional early requirement for Tbx5 in coordinating the axes of fin outgrowth. The heart of heartstrings mutant embryos appears to form and function normally through the early heart tube stage, manifesting only a slight bradycardia compared with wild-type siblings. However, the heart fails to loop and then progressively deteriorates, a process affecting the ventricle as well as the atrium. Relative to mammals, fish require lower levels of Tbx5 to produce malformed appendages and display whole-heart rather than atrial-predominant cardiac defects. However, the syndromic deficiencies of tbx5 mutation are remarkably well retained between fish and mammals.

  14. TSKT-ORAM: A Two-Server k-ary Tree Oblivious RAM without Homomorphic Encryption

    Directory of Open Access Journals (Sweden)

    Jinsheng Zhang

    2017-09-01

    Full Text Available This paper proposes TSKT-oblivious RAM (ORAM, an efficient multi-server ORAM construction, to protect a client’s access pattern to outsourced data. TSKT-ORAM organizes each of the server storages as a k-ary tree and adopts XOR-based private information retrieval (PIR and a novel delayed eviction technique to optimize both the data query and data eviction process. TSKT-ORAM is proven to protect the data access pattern privacy with a failure probability of 2 - 80 when system parameter k ≥ 128 . Meanwhile, given a constant-size local storage, when N (i.e., the total number of outsourced data blocks ranges from 2 16 – 2 34 , the communication cost of TSKT-ORAM is only 22–46 data blocks. Asymptotic analysis and practical comparisons are conducted to show that TSKT-ORAM incurs lower communication cost, storage cost and access delay in practical scenarios than the compared state-of-the-art ORAM schemes.

  15. Frihet & struktur : en kvalitativ studie av skolelivskvalitet hos ungdom med Tourette syndrom

    OpenAIRE

    Siverts, Torstein

    2005-01-01

    Sammendrag. Tittel: Skolelivskvalitet hos ungdom med Tourette Syndrom Med bakgrunn i egen erfaring fra arbeid med elever med Tourette Syndrom i grunnskolen, og i studier i spesialpedagogisk teori og empiri, etterstrebes det i denne studien å utvikle økt forståelse for hva slags erfaringer fra og perspektiver på sitt skoleliv elever med denne funksjonshemmende lidelsen har. Med grunnlag i analyser av intervjuer med elever om deres erfaringer og perspektiver, har jeg prøvd å b...

  16. Holt Oram syndrome: a registry-based study in Europe

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Boban, Ljubica; Greenlees, Ruth

    2014-01-01

    were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were...

  17. Use of a Computerized Tool (ORAM) to Help Manage Outage Safety and Risk at NPP Krsko

    International Nuclear Information System (INIS)

    Spiler, J.; Basic, I.; Vrbanic, I.; Fifnja, I.; Kastelan, M.; Dagan, W. J.; Shanley, L. B.; Naum, T. J.

    1998-01-01

    Outage Risk Assessment and Management (ORAM) is a computerized methodology developed by the U.S. Electric Power Research Institute (EPRI) to help Nuclear Power Plant personnel manage the risk and safety associated with refueling and forced plant outages. Today, over 60 plants including NPP Krsko are using ORAM during the preparation and performance of plant outages. In fact, many plants are attributing much of the reductions in the duration of refueling outages to the use of ORAM. The success of the ORAM methodology is the capability to provide plant and management personnel with understandable results from both deterministic evaluations of plant safety and quantitative risk assessments. The Nuklearna Elektrarna Krsko (NEK) use of ORAM involves both of these approaches. The deterministic portion of ORAM is used to model the NPP Krsko Shutdown Technical Specifications and administrative considerations. The probabilistic portion of ORAM uses industry and NEK specific initiating events and other risk elements pertaining to shutdown to derive a quantitative risk assessment for various end states, including core damage and RCS boiling. This paper expands on the value of each approach and demonstrates the benefits of combining these elements in the decision-making process. Another key advantage of ORAM is the ability to apply the methodology to specific outages. Since no outage is identical, this provides tremendous benefits to plant personnel for managing the safety and risk of a particular outage. ORAM does this ba organizing all of the various plant configurations and equipment unavailability windows into numerous plant states. Furthermore, ORAM evaluations can be a utomated b y interfacing with outage scheduling software programs such as Primavera. For each plant state, the deterministic and the probabilistic logic evaluations are applied. This paper will demonstrate the ORAM evaluation for an actual NPP Krsko outage. (author)

  18. ORAM-SENTINEL development at Calvert Cliffs. Final report

    International Nuclear Information System (INIS)

    1998-05-01

    Baltimore Gas and Electric, in cooperation with EPRI, has installed ORAM-SENTINEL trademark software at Calvert Cliffs Nuclear Power Plant. This software incorporates models of the safety and support systems that are used to display the defense-in-depth present in the plant and a quantitative assessment of plant risks during proposed on-line maintenance. During 1997, Baltimore Gas and Electric personnel became familiar with the formal computerized Safety Assessment process associated with on-line and outage maintenance. The report describes the motivation for and the development of ORAM-SENTINEL software. It describes generation of Safety Function Assessment Trees and Plant Transient Assessment Trees and their use in evaluating the level of defense-in-depth of key plant safety functions and plant susceptibility to critical transient events. To show decreasing safety conditions, their results are displayed by color indicators ranging from green through yellow and orange to red. The report describes use of the Calvert Probabilistic Safety Assessment with ORAM-SENTINEL code to calculate an instantaneous core damage frequency and the criteria by which this frequency is translated to a color indicator

  19. Oculoauriculovertebral spectrum with radial anomaly in child.

    Science.gov (United States)

    Taksande, Amar; Vilhekar, Krishna

    2013-01-01

    Oculoauriculovertebral spectrum (OAVS) or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the cheekbones, jaws, mouth, ears, eyes, or vertebrae. Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial-renal syndrome, facioauriculoradial dysplasia, Fanconi anemia, and Vertebral, Anal atresia, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL) association should be considered for differential diagnosis. Here we report a child who had facial asymmetry, microsomia, microtia, congenital facial nerve palsy, conductive hearing loss, skin tags, iris coloboma, and preaxial polydactyly.

  20. Oculoauriculovertebral spectrum with radial anomaly in child

    Directory of Open Access Journals (Sweden)

    Amar Taksande

    2013-01-01

    Full Text Available Oculoauriculovertebral spectrum (OAVS or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the cheekbones, jaws, mouth, ears, eyes, or vertebrae. Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial-renal syndrome, facioauriculoradial dysplasia, Fanconi anemia, and Vertebral, Anal atresia, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL association should be considered for differential diagnosis. Here we report a child who had facial asymmetry, microsomia, microtia, congenital facial nerve palsy, conductive hearing loss, skin tags, iris coloboma, and preaxial polydactyly.

  1. Outage Risk Assessment and Management (ORAM) technology to improve outage safety and economics

    International Nuclear Information System (INIS)

    Kalra, S.P.

    2004-01-01

    The Electric Power Research Institute (EPRI) has undertaken an aggressive program, called ORAM (Outage Risk Assessment and Management), to provide utilities with tools and technology to assist in managing risk during the planning and conduct of outages. The ORAM program consists of the following 6 steps: i) Perform utility surveys and visits on shutdown risk management needs, ii) Perform probabilistic shutdown safety assessments (PSSAs) to identify generic insights that can be incorporated into risk management guidelines and identify selected areas for the development of contingency actions, iii) Develop risk management guidelines (RMG's) that provide a systematic approach to the planning and conduct of outages from a safety perspective. Incorporate insights from the shutdown safety assessments and other operating experience into the RMG's. iv) Develop selected contingency actions including a thermalhydraulic tool kit to address higher risk time periods and activities identified in the shutdown safety assessments, v) Develop computer software that integrates all of the above capability into an easy to use tool for effective shutdown operation management for utilities, vi) Provide assistance in the transfer of this technology and the application of these tools. This paper briefly describes the technical approach and tools developed under EPRI's ORAM program and its applications for improving outage safety and economics. (author)

  2. Oramics to electronica: investigating lay understandings of the history of technology through a participatory project

    Directory of Open Access Journals (Sweden)

    Dr Tim Boon

    2014-10-01

    Full Text Available Oramics to Electronica was a 2011 Science Museum project designed to put the tools of museum participation in the service of research into public history, taking the history of electronic music as our example. The primary output was a temporary exhibition. Whereas the term ‘public history’ is often used to denote popularisation of academic history, in this inflection we are primarily concerned with how lay people like our visitors think about the past in general, and about the past of science and technology in particular. Taking the opportunities that arose, we worked with two ‘expert’ groups – of original 1960s participants in electronic music and of 12 recruited present-day music enthusiasts. We also enrolled a group of theatre students and another of writers to respond to the themes of the project and, in particular, to the ‘Oramics Machine’ a unique sound synthesizer created by Daphne Oram. In this essay, an account of our practice is bookended with consideration of related practice and reflections on the implications of the project. It is suggested that the project demonstrated the virtues of proceeding by way of engagement with micro-audiences to understand the ‘cognitive exclusion’ of potential visitors who do not see their interests represented in museum displays.

  3. Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot

    NARCIS (Netherlands)

    Baban, Anwar; Postma, Alex Vincent; Marini, Monica; Trocchio, Gianluca; Santilli, Antonella; Pelegrini, Monica; Sirleto, Pietro; Lerone, Margherita; Albanese, Sonia Bernadette; Barnett, Phil; Boogerd, Cornelis Job; Dallapiccola, Bruno; Digilio, Maria Cristina; Ravazzolo, Roberto; Pongiglione, Giacomo

    2014-01-01

    Tetralogy of Fallot (TOF) (OMIM #187500) is the most frequent conotruncal congenital heart defect (CHD) with a range of intra- and extracardiac phenotypes. TBX5 is a transcription factor with well-defined roles in heart and forelimb development, and mutations in TBX5 are associated with Holt-Oram

  4. Measurements of eye lens doses in interventional radiology and cardiology: Final results of the ORAMED project

    International Nuclear Information System (INIS)

    Vanhavere, F.; Carinou, E.; Domienik, J.; Donadille, L.; Ginjaume, M.; Gualdrini, G.; Koukorava, C.; Krim, S.; Nikodemova, D.; Ruiz-Lopez, N.; Sans-Merce, M.; Struelens, L.

    2011-01-01

    Within the ORAMED project (Optimization of Radiation Protection of Medical Staff) a coordinated measurement program for occupationally exposed medical staff was performed in different hospitals in Europe ( (www.oramed-fp7.eu)). The main objective was to obtain a set of standardized data on extremity and eye lens doses for staff involved in interventional radiology and cardiology and to optimize radiation protection. Special attention was given to the measurement of the doses to the eye lenses. In this paper an overview will be given of the measured eye lens doses and the main influence factors for these doses. The measured eye lens doses are extrapolated to annual doses. The extrapolations showed that monitoring of the eye lens should be performed on routine basis.

  5. Oramics to electronica: investigating lay understandings of the history of technology through a participatory project

    NARCIS (Netherlands)

    Boon, T.; van der Vaart, M.; Price, K.

    2014-01-01

    Oramics to Electronica was a 2011 Science Museum project designed to put the tools of museum participation in the service of research into public history, taking the history of electronic music as our example. The primary output was a temporary exhibition. Whereas the term ‘public history’ is often

  6. Application of Holt exponential smoothing and ARIMA method for data population in West Java

    Science.gov (United States)

    Supriatna, A.; Susanti, D.; Hertini, E.

    2017-01-01

    One method of time series that is often used to predict data that contains trend is Holt. Holt method using different parameters used in the original data which aims to smooth the trend value. In addition to Holt, ARIMA method can be used on a wide variety of data including data pattern containing a pattern trend. Data actual of population from 1998-2015 contains the trends so can be solved by Holt and ARIMA method to obtain the prediction value of some periods. The best method is measured by looking at the smallest MAPE and MAE error. The result using Holt method is 47.205.749 populations in 2016, 47.535.324 populations in 2017, and 48.041.672 populations in 2018, with MAPE error is 0,469744 and MAE error is 189.731. While the result using ARIMA method is 46.964.682 populations in 2016, 47.342.189 in 2017, and 47.899.696 in 2018, with MAPE error is 0,4380 and MAE is 176.626.

  7. Testing in the Schools: A Response to John Holt

    Science.gov (United States)

    Shapiro, Bernard J.; Shapiro, Phyllis P.

    1970-01-01

    Opposes Holt's suggestion to eliminate testing; states that the evils he suggested are not inherent in testing but in test administration and interpretation. Supports material-imbedded tests using unobtrusive measures. (MH)

  8. Filters or Holt Winters Technique to Improve the SPF Forecasts for USA Inflation Rate?

    Directory of Open Access Journals (Sweden)

    Mihaela Bratu (Simionescu

    2013-02-01

    Full Text Available In this study, transformations of SPF inflation forecasts were made in order to get moreaccurate predictions. The filters application and Holt Winters technique were chosen as possiblestrategies of improving the predictions accuracy. The quarterly inflation rate forecasts (1975 Q1-2012Q3 of USAmade by SPF were transformed using an exponential smoothing technique-HoltWinters-and these new predictions are better than the initial ones for all forecasting horizons of 4quarters. Some filters were applied to SPF forecasts (Hodrick-Prescott,Band-Pass and Christiano-Fitzegerald filters, but Holt Winters method was superior.Full sample asymmetric (Christiano-Fitzegerald and Band-Pass filtersmoothed values are more accurate than the SPF expectations onlyfor some forecast horizons.

  9. Måling af stress hos mink

    DEFF Research Database (Denmark)

    Malmkvist, Jens

    2010-01-01

    Sammendrag Stress indgår som et element ved vurdering af dyrevelfærd. Endvidere kan stress mål anvendes i undersøgelser, hvor forskellige typer af avl, burmiljø og pasning af mink sammenlignes. Men hvad er stress egentlig og hvordan måles det? Er unormal adfærd koblet til stress hos mink? På...... temadagen præsenteres nye resultater og metoder til at vurdere stress hos mink. I en metode måles koncentrationen af nedbrydningsprodukter af hormonet cortisol i gødning fra mink. Der er en række fordele ved denne metode, frem for blodprøvetagning. Forsøg viste, at hovedparten af cortisol udskilles i fæces...... (83 %) frem for i urin (17 %), samt at omsætningen af radioaktivt mærket cortisol ikke er forskellig mellem mink med hhv. lav og høj forekomst af stereotypi. Denne viden kan bruges til bedre at forstå koblingen f.eks. unormal adfærd og stress hos mink....

  10. Vitamin D fysiologi og forsyning hos malkekvæg

    DEFF Research Database (Denmark)

    Hymøller, Lone; Jensen, Søren Krogh

    2015-01-01

    Vitamin D, som tilhører gruppen af fedtopløselige vitaminer, har de seneste år været et af de mest omdiskuterede næringsstoffer i både dansk og udenlandsk presse. Dette skyldes, at vitamin D har vist sig at have indflydelse på mange forskellige fysiologiske processer i kroppen lige fra...... kalciumbalance og knoglestyrke til immunforsvarets funktion. Hos malkekvæg betyder dette, at vitamin D potentielt har stor indflydelse på bl.a. risikoen for kælvningsproblemer og mælkefeber hos køer samt dyrenes generelle holdbarhed og sundhed. Gennem de seneste 10 år har forskere på AU Foulum intenst studeret...... vitamin D-forsyningen og -fysiologien hos malkekvæg. Resultaterne af disse undersøgelser har vist, at sommersollys er en meget vigtig kilde til vitamin D hos malkekøer, og der er en lineært stigende effekt på køernes vitamin D-status i blodet, jo længere tid de dagligt opholder sig i sommersolen. Tilskud...

  11. Integrated use of Primavera and ORAM codes in outage 1999 at NPP Krsko

    International Nuclear Information System (INIS)

    Krajnc, J.; Skaler, F.; Basic, I.; Kocnar, R.

    1999-01-01

    The paper deals with the following postulated main goals of outage scheduling with Primavera tool at Krsko NPP: planning and controlling of resources (people, equipment, locations, sources), controlling the safety aspects of an outage and assuring defense-in-depth philosophy (through integrated safety assessment by ORAM code), diversity use of the plan during preparations period and outage progress (MCB, work leaders, management, planning Dept., subcontractors, support, etc.), allowing for optimization of outage duration. A snapshot in Primavera of what actually happened in outage 1999, lessons learned and a new work template is the scope of the next year outage.(author)

  12. Ecological psychology and social psychology: it is Holt, or nothing!

    Science.gov (United States)

    Charles, Eric P

    2011-03-01

    What is the greatest contribution that ecological psychologists can offer social psychology? Ideally, ecological psychologists could explain how people directly perceive the unique properties of their social partners. But social partners are distinguished from mundane objects because they possess mental traits, and tradition tells us that minds cannot be seen. When considering the ideal possibility, we reject that doctrine and posit minds as perceivable. For ecological psychology, this entails asserting that minds are the types of things able to structure ambient energy. Contemporary research and theory suggests distinctly ecological ways of attacking this problem, but the problem is not new. Almost 100 years ago, Holt argued for the visibility of minds. Thus when considering these ideas, ecological psychologists face a choice that is at once about their future and their past. Extending ecological psychology's first principles into the social realm, we come to the point where we must either accept or reject Holt's arguments, and the wider context they bring. In doing so, we accept or reject our ability to study the uniquely social.

  13. Ivermektinfølsomhed hos danske Collies og Border Collies

    DEFF Research Database (Denmark)

    Treschow, Michaela E. C.; Fredholm, Merete

    2007-01-01

    Anvendelse af ivermektin i terapeutiske doser til hunde medfører i visse tilfælde neurologiske bivirkninger. Der er tale om en idiosynkrasi, der benævnes ivermektinfølsomhed, og som primært er beskrevet hos hyrdehunderacer, herunder især Collies......Anvendelse af ivermektin i terapeutiske doser til hunde medfører i visse tilfælde neurologiske bivirkninger. Der er tale om en idiosynkrasi, der benævnes ivermektinfølsomhed, og som primært er beskrevet hos hyrdehunderacer, herunder især Collies...

  14. Identifiable Data Files - Health Outcomes Survey (HOS)

    Data.gov (United States)

    U.S. Department of Health & Human Services — The Medicare Health Outcomes Survey (HOS) identifiable data files are comprised of the entire national sample for a given 2-year cohort (including both respondents...

  15. Staff extremity doses in interventional radiology. Results of the ORAMED measurement campaign

    International Nuclear Information System (INIS)

    Nikodemová, D.; Brodecki, M.; Carinou, E.; Domienik, J.; Donadille, L.; Koukorava, C.; Krim, S.; Ruiz-López, N.; Sans-Merce, M.; Struelens, L.; Vanhavere, F.; Zaknoune, R.

    2011-01-01

    The introduction of interventional radiology (IR) procedures in the 20th century has demonstrated significant advantages over surgery procedures. As a result, their number is continuously rising in diagnostic, as well as, in therapy field and is connected with progress in highly sophisticated equipment used for these purposes. Nowadays, in the European countries more than 400 fluoroscopically guided IR procedures were identified with a 10–12% increase in the number of IR examinations every year (). Depending on the complexity of the different types of the interventions large differences in the radiation doses of the staff are observed. The staff that carries out IR procedures is likely to receive relatively high radiation doses, because IR procedures require the operator to remain close to the patient and close to the primary radiation beam. In spite of the fact that the operator is shielded by protective apron, the hands, eyes and legs remain practically unshielded. For this reason, one of the aims of the ORAMED project was to provide a set of standardized data on extremity doses for the personnel that are involved in IR procedures and to optimize their protection by evaluating the various factors that affect the doses. In the framework of work package 1 of the ORAMED project the impact of protective equipment, tube configuration and access routes were analyzed for the selected IR procedures. The position of maximum dose measured is also investigated. The results of the extremity doses in IR workplaces are presented in this study together with the influence of the above mentioned parameters on the doses. -- Highlights: ► We present a set of data on extremity doses for staff in selected interventional radiology procedures. ► We studied the influence of different parameters. ► The measured doses are analyzed according to the operators skill,his position during work, tube configuration, etc. ► Maximum doses recorded for all types of embolisation, in all

  16. Beyond Knut Holt's fusion model, balancing market pull and technology push

    NARCIS (Netherlands)

    Nagel, A.P.

    2003-01-01

    Should a firm rely on market pull or on technology push? Some scholars have extreme opinions on this and firms do switch emphasis on push and pull over time. Knut Holt, the first president of ISPIM, presented his so-called Fusion Model in the early 1970s to shed light onto this debate. This paper

  17. Demens hos personer med Downs syndrom

    DEFF Research Database (Denmark)

    Salem, Lise Cronberg; Jørgensen, Kasper

    2014-01-01

    In developed countries the population of elderly people with Down syndrome expands resulting in an increasing incidence of age-related diseases, including dementia. The assessment of dementia in individuals with intellectual disability is often complicated due to large intra-individual variability...

  18. Medieforbrug hos etniske minoriteter I Danmark

    DEFF Research Database (Denmark)

    Christiansen, Connie Carøe

    2005-01-01

    Bag spørgsmålet om etniske minoriteters medieforbrug ligger en forventning om et anderledes forbrug end den øvrige befolkning og det bekræftes af forskellige undersøgelser. Der er større spredning på medier hos disse dele af befolkningen, og især tyrkiske familier ser megen tv fra hjemlandet. Men...

  19. Strubelammelse hos hund

    DEFF Research Database (Denmark)

    Miles, James; Eriksen, Thomas

    2007-01-01

    Strubelammelse (larynxparese) er en dysfunktion af strubehovedet, der medfører en stærkt nedsat eller som oftest helt fraværende evne til at åbne stemmeridsen (rima glottidis) ved inspiration. De lammede stemmebånd står immobile i paramedian stilling, hvilket medfører begrænset og besværet...... og hoste. Strubelammelse er enten medfødt eller erhvervet. Den medfødte form udgør 20-30 procent af patienter, hvor symptomerne debuterer hos unge dyr med kraftig ophobning i racer som Bouvier de Flandre, Siberian husky, Dalmatiner og Bull terrier. Den erhvervede lammelse er den hyppigste form og ses...

  20. John Holt Stanway: Gone to Texas

    Science.gov (United States)

    Bryan, J.

    2008-01-01

    John Holt Stanway (1799Ð1872) was an amateur astronomer who lived in Manchester, England until 1845. He was in contact with the English Ôgrand amateurÕ astronomer, William Henry Smyth, who supported him for Fellowship of the Royal Astronomical Society and evidently advised him on how to build and equip an observatory. Apparently, Stanway had an observatory at Chorlton-cum-Hardy in 1837. In 1845, Stanway left for the United States in response to serious business problems. En route, he met Ashbel Smith, a representative of the government of the Republic of Texas, who convinced Stanway to go to Texas. There he changed his name to John H. Smythe Stanley and settled in Houston, where he re-established his observatory. He became a commercial photographer and wrote about astronomy and other scientific subjects in Houston newspapers until his death in 1872.

  1. The Arabidopsis E3 Ubiquitin Ligase HOS1 Negatively Regulates CONSTANS Abundance in the Photoperiodic Control of Flowering[W

    Science.gov (United States)

    Lazaro, Ana; Valverde, Federico; Piñeiro, Manuel; Jarillo, Jose A.

    2012-01-01

    The Arabidopsis thaliana early in short days6 (esd6) mutant was isolated in a screen for mutations that accelerate flowering time. Among other developmental alterations, esd6 displays early flowering in both long- and short-day conditions. Fine mapping of the mutation showed that the esd6 phenotype is caused by a lesion in the HIGH EXPRESSION OF OSMOTICALLY RESPONSIVE GENES1 (HOS1) locus, which encodes a RING finger–containing E3 ubiquitin ligase. The esd6/hos1 mutation causes decreased FLOWERING LOCUS C expression and requires CONSTANS (CO) protein for its early flowering phenotype under long days. Moreover, CO and HOS1 physically interact in vitro and in planta, and HOS1 regulates CO abundance, particularly during the daylight period. Accordingly, hos1 causes a shift in the regular long-day pattern of expression of FLOWERING LOCUS T (FT) transcript, starting to rise 4 h after dawn in the mutant. In addition, HOS1 interacts synergistically with CONSTITUTIVE PHOTOMORPHOGENIC1, another regulator of CO protein stability, in the regulation of flowering time. Taken together, these results indicate that HOS1 is involved in the control of CO abundance, ensuring that CO activation of FT occurs only when the light period reaches a certain length and preventing precocious flowering in Arabidopsis. PMID:22408073

  2. Comparative study of holt-winters triples exponential smoothing and seasonal Arima: Forecasting short term seasonal car sales in South Africa

    Directory of Open Access Journals (Sweden)

    Katleho Daniel Makatjane

    2016-02-01

    Full Text Available In this paper, both Seasonal ARIMA and Holt-Winters models are developed to predict the monthly car sales in South Africa using data for the period of January 1994 to December 2013. The purpose of this study is to choose an optimal model suited for the sector. The three error metrics; mean absolute error, mean absolute percentage error and root mean square error were used in making such a choice. Upon realizing that the three forecast errors could not provide concrete basis to make conclusion, the power test was calculated for each model proving Holt-Winters to having about 0.3% more predictive power. Empirical results also indicate that Holt-Winters model produced more precise short-term seasonal forecasts. The findings also revealed a structural break in April 2009, implying that the car industry was significantly affected by the 2008 and 2009 US financial crisis

  3. 77 FR 38796 - Alabama Power Company; Holt Hydroelectric Project; Notice of Revised Restricted Service List for...

    Science.gov (United States)

    2012-06-29

    ... Power Company; Holt Hydroelectric Project; Notice of Revised Restricted Service List for a Programmatic... Hydroelectric Project No. 2203. The programmatic agreement, when executed by the Commission, the Alabama SHPO...

  4. Årsager til luftvejsinfektioner hos kalve

    DEFF Research Database (Denmark)

    Sloth, Karen Helle; Fisker, Irene; Larsen, Lars Erik

    2008-01-01

    Coronavirus gav anledning til flest antistofstigninger hos nyindsatte kalve i tre ud af fire slagtekalvebesætninger i en mindre undersøgelse gennemført i et Dansk Kvæg projekt. I en af besætningerne var der desuden tydelig reaktion mod andre infektioner. Der blev undersøgt for antistoffer mod cor...... coronavirus, BRSV, parainfluenzavirus (P1-2) og Salmonelle dublin....

  5. Eosinofil keratitis hos en dansk hest

    DEFF Research Database (Denmark)

    Olsen, Emil; Henriksen, Michala de Linde; Andersen, Pia Haubro

    2009-01-01

    Eosinofil keratitis (EK) er en relativt sjælden øjenlidelse hos hest, som især ses i tempererede områder. Klinisk er lidelsen karakteriseret ved én eller multiple corneaulcerationer dækket med hvidt eller gelatinøst proliferativt subepithelialt plaque. Denne casereport, som omhandler en 20-årig p...

  6. Institutional, Public and Individual Learning Dynamics of the Andy Holt Virtual Library.

    Science.gov (United States)

    Peckham, Robert

    The Andy Holt Virtual Library, with a focus on the Humanities and Fine Arts, is free and open to the public, though designed to serve the learning communities within the College of Humanities and Fine Arts at the University of Tennessee-Martin (UT). It also plays a resource role in UT's New College and the Tennessee Governors School for the…

  7. HosA, a MarR Family Transcriptional Regulator, Represses Nonoxidative Hydroxyarylic Acid Decarboxylase Operon and Is Modulated by 4-Hydroxybenzoic Acid.

    Science.gov (United States)

    Roy, Ajit; Ranjan, Akash

    2016-02-23

    Members of the Multiple antibiotic resistance Regulator (MarR) family of DNA binding proteins regulate transcription of a wide array of genes required for virulence and pathogenicity of bacteria. The present study reports the molecular characterization of HosA (Homologue of SlyA), a MarR protein, with respect to its target gene, DNA recognition motif, and nature of its ligand. Through a comparative genomics approach, we demonstrate that hosA is in synteny with nonoxidative hydroxyarylic acid decarboxylase (HAD) operon and is present exclusively within the mutS-rpoS polymorphic region in nine different genera of Enterobacteriaceae family. Using molecular biology and biochemical approach, we demonstrate that HosA binds to a palindromic sequence downstream to the transcription start site of divergently transcribed nonoxidative HAD operon and represses its expression. Furthermore, in silico analysis showed that the recognition motif for HosA is highly conserved in the upstream region of divergently transcribed operon in different genera of Enterobacteriaceae family. A systematic chemical search for the physiological ligand revealed that 4-hydroxybenzoic acid (4-HBA) interacts with HosA and derepresses HosA mediated repression of the nonoxidative HAD operon. Based on our study, we propose a model for molecular mechanism underlying the regulation of nonoxidative HAD operon by HosA in Enterobacteriaceae family.

  8. Demens hos personer med Downs syndrom

    DEFF Research Database (Denmark)

    Salem, Lise Cronberg; Jørgensen, Kasper

    2014-01-01

    In developed countries the population of elderly people with Down syndrome expands resulting in an increasing incidence of age-related diseases, including dementia. The assessment of dementia in individuals with intellectual disability is often complicated due to large intra-individual variability...... in cognitive functioning prior to dementia and to lack of standardised measures to detect dementia. Structured observations of symptoms of dementia and assessment techniques tailored for people with intellectual disability are increasingly needed....

  9. Flora en fauna van 'Holt und Haar'; gegevens uit een Weichseliën-groeve gecombineerd

    NARCIS (Netherlands)

    van Geel, B.; van de Steeg, J.F.; Meijer, H.J.M.

    2006-01-01

    De paleontologische gegevens, in combinatie met de palynologische analyse van twee sedimentsmonsters uit de groeve Holt und Haar (Duits-Nederlands grensgebied; Weichseliën Midden-Pleniglaciaal) leiden tot een gedetailleerd beeld van landschap en vegetatie. De invloed van herbivoren op de

  10. Mowat-Wilson-syndrom hos tre danske børn

    DEFF Research Database (Denmark)

    Nissen, Karin Bækgaard; Søndergaard, Charlotte; Thelle, Thomas

    2011-01-01

    Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and urinary tract anomalies. Some cases also present epilepsy......, growth retardation and microcephaly. The syndrome is caused by mutations or deletions of the ZEB2 gene at chromosome 2q22-q23. MWS was first described in 1998 and until now approximately 180 cases have been reported worldwide. We report the first three molecularly confirmed Danish cases with MWS....

  11. The Hos2 Histone Deacetylase Controls Ustilago maydis Virulence through Direct Regulation of Mating-Type Genes.

    Directory of Open Access Journals (Sweden)

    Alberto Elías-Villalobos

    2015-08-01

    Full Text Available Morphological changes are critical for host colonisation in plant pathogenic fungi. These changes occur at specific stages of their pathogenic cycle in response to environmental signals and are mediated by transcription factors, which act as master regulators. Histone deacetylases (HDACs play crucial roles in regulating gene expression, for example by locally modulating the accessibility of chromatin to transcriptional regulators. It has been reported that HDACs play important roles in the virulence of plant fungi. However, the specific environment-sensing pathways that control fungal virulence via HDACs remain poorly characterised. Here we address this question using the maize pathogen Ustilago maydis. We find that the HDAC Hos2 is required for the dimorphic switch and pathogenic development in U. maydis. The deletion of hos2 abolishes the cAMP-dependent expression of mating type genes. Moreover, ChIP experiments detect Hos2 binding to the gene bodies of mating-type genes, which increases in proportion to their expression level following cAMP addition. These observations suggest that Hos2 acts as a downstream component of the cAMP-PKA pathway to control the expression of mating-type genes. Interestingly, we found that Clr3, another HDAC present in U. maydis, also contributes to the cAMP-dependent regulation of mating-type gene expression, demonstrating that Hos2 is not the only HDAC involved in this control system. Overall, our results provide new insights into the role of HDACs in fungal phytopathogenesis.

  12. Nanotubo de carbono-chitosan en células HOS y THP-1 Carbon nanotubes-chitosan in HOS and THP-1 cells

    Directory of Open Access Journals (Sweden)

    John Jairo Castillo León

    2011-04-01

    Full Text Available Introducción: Los nanotubos de carbono (NTC son estructuras nanométricas utilizadas en el tratamiento de enfermedades, principalmente en la entrega de fármacos para terapias en cáncer. Objetivos: Estudiar la internalización de NTC acoplado a quitosan (NTC-Q en células de osteosarcoma humano (HOS y monocitos humanos de leucemia aguda (THP-1. Materiales y métodos: Los NTC solubilizados con quitosan 30% fueron caracterizados espectroscópicamente por UV-Vis, fluorescencia y Raman. Las células HOS y THP-1 fueron tratadas con NTC-Q y se evaluó la internalización por tinción de Giemsa en microscopio de luz y la citotóxicidad utilizando la prueba fluorométrica de Azul de Alamar. Resultados: Los espectros Raman y de fluorescencia mostraron la funcionalización de los NTC con quitosan. Los NTC fueron internalizados por las líneas celulares después de 24 h mostrando una ubicación citoplasmática sin presentar citotóxicidad en ninguna de las células evaluadas. Discusión: Las características presentadas por los NTC-Q les brinda la posibilidad de ser utilizados como transportadores de fármacos. Salud UIS 2011; 43(1: 21-26Introduction: Carbon nanotubes (CNT are nanometer-sized structures used in medicine in the treatment of diseases, mainly in drug delivery in therapies against cancer. Objectives: To Study the internalization of carbon nanotubes modified with chitosan (CNT-CH in human osteosarcom cells (HOS and human monocytes of acute leukemia (THP1. Materials and methods: The CNTs solubilized in chitosan 30% were characterized spectroscopically by UV-Vis, fluorescence and Raman. HOS cells and THP-1 were treated with CNT-CH, the internalization was evaluated by Giemsa staining with light microscopy, and cytotoxicity was determined using Alamar Blue assay. Results: Raman and fluorescence spectra showed the functionalization of the CNT with chitosan. After 24 h the NTC were internalized in the cell lines showing a cytoplasmic location and

  13. Functional characterization of Candida albicans Hos2 histone deacetylase [v3; ref status: indexed, http://f1000r.es/3xh

    Directory of Open Access Journals (Sweden)

    G Karthikeyan

    2014-07-01

    Full Text Available Candida albicans is a mucosal commensal organism capable of causing superficial (oral and vaginal thrush infections in immune normal hosts, but is a major pathogen causing systemic and mucosal infections in immunocompromised individuals. Azoles have been very effective anti-fungal agents and the mainstay in treating opportunistic mold and yeast infections. Azole resistant strains have emerged compromising the utility of this class of drugs. It has been shown that azole resistance can be reversed by the co-administration of a histone deacetylase (HDAC inhibitor, suggesting that resistance is mediated by epigenetic mechanisms possibly involving Hos2, a fungal deacetylase. We report here the cloning and functional characterization of HOS2 (HighOsmolarity Sensitive, a gene coding for fungal histone deacetylase from C. albicans. Inhibition studies showed that Hos2 is susceptible to pan inhibitors such as trichostatin A (TSA and suberoylanilide hydroxamic acid (SAHA, but is not inhibited by class I inhibitors such as MS-275. This in vitro enzymatic assay, which is amenable to high throughput could be used for screening potent fungal Hos2 inhibitors that could be a potential anti-fungal adjuvant. Purified Hos2 protein consistently deacetylated tubulins, rather than histones from TSA-treated cells. Hos2 has been reported to be a putative NAD+ dependent histone deacetylase, a feature of sirtuins. We assayed for sirtuin activation with resveratrol and purified Hos2 protein and did not find any sirtuin activity.

  14. Fatal Klippel-Trenaunay syndrome in a child with pulmonary embolism

    DEFF Research Database (Denmark)

    Pedersen, Rie Skovgaard; Hedelund, Lene; Poulsen, Lone H

    2013-01-01

    Klippel-Trénaunays syndrom (KTS) er en sjælden, medfødt sygdom, der er kendetegnet ved venøse malformationer (VM), kutane kapillære malformationer og overvækst af bløddele og/eller knogler [1]. Forekomst af hyperkoagulabilitet, trombosering og lungeemboli er tidligere beskrevet hos patienter med ...

  15. Emerging countries’ multinational companies investing in developed countries: at odds with the HOS paradigm?

    Directory of Open Access Journals (Sweden)

    Andreff, Wladimir

    2013-04-01

    Full Text Available The paper analyses the new trend of outward foreign direct investment (FDI by multinational companies from emerging countries, in particular the BRICs, in developed countries to question the applicability of the traditional HOS theoretical framework to this trend. A literature review shows that labour costs do not play any significant role in the first attempts to provide an analytical explanation of this new trend. A HOS equation, amended in order to encompass FDI, is elaborated in order to explain outward FDI from developed to developing and emerging countries based on differences in labour endowment and therefore in wage rates. Step by step, the equation introduces the technological gap, institutions and government policies. Then it is shown that such equation when reversed to explain outward FDI from emerging to developed countries is at odds with the traditional HOS framework. Turning the HOS theory upside down does not help to explain reverse FDI outflows from emerging to developed countries. An alternative approach is called for, in which a labour cost advantage (a lower wage rate than abroad is a home market advantage for emerging countries to invest abroad. A final section provides some empirical examples that labour matters and a lower home wage rate is a decisive comparative advantage for Indian and Chinese multinationals investing in developed countries. Additional evidence shows that the technological gap and the home country’s institutions and government policy matter as well

  16. Tværprofessionelt samarbejde om udsathed hos børn og unge

    DEFF Research Database (Denmark)

    Villumsen, Anne Marie Anker; Jakobsen, Ida Skytte; Lund, Jens Hansen

    2015-01-01

    begreb og fænomen, som ikke lader sig indfange i en absolut og statisk definition. Potentialet for både praksis og uddannelser ligger derfor i en erkendelse heraf. Samtidig synes der at være potentiale i, at man i hver enkelt samarbejdskonstellation og kontekst operationaliserer og præciserer......, at tværprofessionelt samarbejde er meget udbredt indenfor socialt arbejde med udsathed hos børn og unge, og det er tydeligt, at der er mange måder, hvorpå man kan samarbejde tværprofessionelt. Samtidig er både tværprofessionelt samarbejde såvel som udsathed hos børn og unge begge vanskelige og upræcise begreber og...

  17. Maximal violation of Clauser-Horne-Shimony-Holt inequality for four-level systems

    International Nuclear Information System (INIS)

    Fu Libin; Chen Jingling; Chen Shigang

    2004-01-01

    Clauser-Horne-Shimony-Holt inequality for bipartite systems of four dimensions is studied in detail by employing the unbiased eight-port beam splitters measurements. The uniform formulas for the maximum and minimum values of this inequality for such measurements are obtained. Based on these formulas, we show that an optimal nonmaximally entangled state is about 6% more resistant to noise than the maximally entangled one. We also give the optimal state and the optimal angles which are important for experimental realization

  18. About the Properties of a Modified Generalized Beverton-Holt Equation in Ecology Models

    Directory of Open Access Journals (Sweden)

    M. De La Sen

    2008-01-01

    Full Text Available This paper is devoted to the study of a generalized modified version of the well-known Beverton-Holt equation in ecology. The proposed model describes the population evolution of some species in a certain habitat driven by six parametrical sequences, namely, the intrinsic growth rate (associated with the reproduction capability, the degree of sympathy of the species with the habitat (described by a so-called environment carrying capacity, a penalty term to deal with overpopulation levels, the harvesting (fishing or hunting regulatory quota, or related to use of pesticides when fighting damaging plagues, and the independent consumption which basically quantifies predation. The independent consumption is considered as a part of a more general additive disturbance which also potentially includes another extra additive disturbance term which might be attributed to net migration from or to the habitat or modeling measuring errors. Both potential contributions are included for generalization purposes in the proposed modified generalized Beverton-Holt equation. The properties of stability and boundedness of the solution sequences, equilibrium points of the stationary model, and the existence of oscillatory solution sequences are investigated. A numerical example for a population of aphids is investigated with the theoretical tools developed in the paper.

  19. Toksisk shock syndrom. Et tilfoelde hos et barn med forbroending

    DEFF Research Database (Denmark)

    Glazowski, M J; Ostergaard, G Z; Arpi, M

    1992-01-01

    A case of the toxic shock syndrome (TSS) in a burnt (scalded) child is presented. TSS is a condition most frequently associated with menstruating women using tampons. In recent years, however, increased knowledge of the syndrome has led to an increase in the number of reported cases associated...

  20. About the Properties of a Modified Generalized Beverton-Holt Equation in Ecology Models

    OpenAIRE

    De La Sen, M.

    2008-01-01

    Es reproducción del documento publicado en http://dx.doi.org/10.1155/2008/592950 This paper is devoted to the study of a generalized modified version of the well-known Beverton-Holt equation in ecology. The proposed model describes the population evolution of some species in a certain habitat driven by six parametrical sequences, namely, the intrinsic growth rate (associated with the reproduction capability), the degree of sympathy of the species with the habitat (described by a so-called ...

  1. All Clauser–Horne–Shimony–Holt polytopes

    International Nuclear Information System (INIS)

    Pironio, Stefano

    2014-01-01

    The correlations that admit a local hidden-variable model are described by a family of polytopes, whose facets are the Bell inequalities. The Clauser–Horne–Shimony–Holt (CHSH) inequality is the simplest such Bell inequality and is a facet of every Bell polytope. We investigate for which Bell polytopes the CHSH inequality is also the unique (non-trivial) facet. We prove that the CHSH inequality is the unique facet for all bipartite polytopes where at least one party has a binary choice of dichotomic measurements, irrespective of the number of measurement settings and outcomes for the other party. Based on numerical results, we conjecture that it is also the unique facet for all bipartite polytopes involving two measurements per party where at least one measurement is dichotomic. Finally, we remark that these two situations can be the only ones for which the CHSH inequality is the unique facet, i.e., any polytope that does not correspond to one of these two cases necessarily has facets that are not of the CHSH form. As a byproduct of our approach, we derive a new family of facet inequalities. This article is part of a special issue of Journal of Physics A: Mathematical and Theoretical devoted to ‘50 years of Bell’s theorem’. (paper)

  2. All Clauser-Home-Shimony-Holt polytopes

    Science.gov (United States)

    Pironio, Stefano

    2014-10-01

    The correlations that admit a local hidden-variable model are described by a family of polytopes, whose facets are the Bell inequalities. The Clauser-Home-Shimony-Holt (CHSH) inequality is the simplest such Bell inequality and is a facet of every Bell polytope. We investigate for which Bell polytopes the CHSH inequality is also the unique (non-trivial) facet. We prove that the CHSH inequality is the unique facet for all bipartite polytopes where at least one party has a binary choice of dichotomic measurements, irrespective of the number of measurement settings and outcomes for the other party. Based on numerical results, we conjecture that it is also the unique facet for all bipartite polytopes involving two measurements per party where at least one measurement is dichotomic. Finally, we remark that these two situations can be the only ones for which the CHSH inequality is the unique facet, i.e., any polytope that does not correspond to one of these two cases necessarily has facets that are not of the CHSH form. As a byproduct of our approach, we derive a new family of facet inequalities. This article is part of a special issue of Journal of Physics A: Mathematical and Theoretical devoted to ‘50 years of Bell’s theorem’.

  3. Forecasting of Water Consumptions Expenditure Using Holt-Winter’s and ARIMA

    Science.gov (United States)

    Razali, S. N. A. M.; Rusiman, M. S.; Zawawi, N. I.; Arbin, N.

    2018-04-01

    This study is carried out to forecast water consumption expenditure of Malaysian university specifically at University Tun Hussein Onn Malaysia (UTHM). The proposed Holt-Winter’s and Auto-Regressive Integrated Moving Average (ARIMA) models were applied to forecast the water consumption expenditure in Ringgit Malaysia from year 2006 until year 2014. The two models were compared and performance measurement of the Mean Absolute Percentage Error (MAPE) and Mean Absolute Deviation (MAD) were used. It is found that ARIMA model showed better results regarding the accuracy of forecast with lower values of MAPE and MAD. Analysis showed that ARIMA (2,1,4) model provided a reasonable forecasting tool for university campus water usage.

  4. Optimal quantum violation of Clauser–Horne–Shimony–Holt like steering inequality

    International Nuclear Information System (INIS)

    Roy, Arup; Sankar Bhattacharya, Some; Mukherjee, Amit; Banik, Manik

    2015-01-01

    We study a recently proposed Einstein–Podolsky–Rosen steering inequality (Cavalcanti et al 2015 J. Opt. Soc. Am. B 32 A74–A81). Analogous to Clauser–Horne–Shimony–Holt (CHSH) inequality for Bell nonlocality, in the simplest scenario, i.e., two parties, two measurements per party and two outcomes per measurement, this newly proposed inequality has been proved to be necessary and sufficient for steering. In this article we find the optimal violation amount of this inequality in quantum theory. Interestingly, the optimal violation amount matches with optimal quantum violation of CHSH inequality, i.e., Cirel’son quantity. We further study the optimal violation of this inequality for different classes of 2-qubit quantum states. (paper)

  5. Drænbehandling af recidiverende otitis media hos børn

    DEFF Research Database (Denmark)

    Lous, Jørgen; Trankjær, Christina Ryborg; Thomsen, Janus Laust

    2010-01-01

    I et nyligt publiceret Cochrane-review om effekten af indsættelse af trommehindedræn hos børn med recidiverende akut otitis media (RAOM) fandt man kun to studier, som opfyldte inklusionskriterierne. De inkluderede studier påviste en absolut risikoreduktion for at få AOM på 0,34 på seks måneder. Ved...

  6. La decisione Holt v. Hobbs: una svolta nelle politiche di religious accommodation con riguardo agli istituti di detenzione nell’ordinamento statunitense?

    Directory of Open Access Journals (Sweden)

    Adelaide Madera

    2016-11-01

    SOMMARIO: 1. La libertà religiosa negli istituti di detenzione negli U.S.A. e il caso Holt v. Hobbs – 2. Le esigenze di bilanciamento fra libertà religiosa ed esigenze di ordine e sicurezza nelle istituzioni penitenziarie – 3. La diluizione delle forme di tutela della libertà religiosa nel contesto degli istituti di detenzione – 4. L’impatto del R.F.R.A. sulla tutela della libertà religiosa negli istituti di detenzione – 5. L’adozione del R.L.U.I.P.A. – 6. Il riconoscimento di legittimità del R.L.U.I.P.A. alla luce dell’Establishment Clause – 7. I nodi irrisolti del caso Cutter v. Wilkinson – 8. Le interferenze del Prison Litigation Reform Actsulla tutela dell’esercizio della libertà religiosa dei detenuti – 9. La frammentazione dei parametri adoperati dai diversi circuiti d’appello – 10. La decisione Holt v. Hobbs – 11. Le motivazioni della Corte – 12. Il (parziale ridimensionamento del parametro della due deference – 13. La tutela estensiva della libertà religiosa promossa dalla Corte Roberts – 14. Holt e Hobby Lobby a confronto – 15. Il crescente rilievo assunto dall’elemento dei third-party burdens nella giurisprudenza della Corte – 16. Annotazioni conclusive.

  7. The Discrete Beverton-Holt Model with Periodic Harvesting in a Periodically Fluctuating Environment

    Directory of Open Access Journals (Sweden)

    Ziyad AlSharawi

    2010-01-01

    Full Text Available We investigate the effect of constant and periodic harvesting on the Beverton-Holt model in a periodically fluctuating environment. We show that in a periodically fluctuating environment, periodic harvesting gives a better maximum sustainable yield compared to constant harvesting. However, if one can also fix the environment, then constant harvesting in a constant environment can be a better option, especially for sufficiently large initial populations. Also, we investigate the combinatorial structure of the periodic sequence of carrying capacities and its effect on the maximum sustainable yield. Finally, we leave some questions worth further investigations.

  8. OPTIMIZACIÓN DE PARÁMETROS Y DE VALORES DE INICIO PARA EL MODELO DE HOLT BASADO EN SEÑALES DE RASTREO OTIMIZAÇÃO DE PARÂMETROS E DE VALORES DE INÍCIO PARA O MODELO DE HOLT BASEADO EM SINAIS DE RASTREIO PARAMETER AND INITIAL VALUES OPTIMIZATION FOR HOLT MODEL BASED ON TRACKING SIGNALS

    Directory of Open Access Journals (Sweden)

    Carlos Alberto Castro

    2010-12-01

    Full Text Available Los modelos de series de tiempo son técnicas cuantitativas con frecuencia utilizadas para realizar pronósticos de variables, dentro de los cuales se encuentran los modelos de suavización, en particular el de suavización con ajuste de tendencia, llamado también modelo de Holt, que requiere la definición de los parámetros a y b y conocidos como coeficientes de suavización y de los valores de inicio que son fundamentales para su actualización. En este artículo se propone una forma de obtener estos valores mediante la optimización del rango de la señal de rastreo (TSR que permitan lograr un modelo más confiable desde el punto de vista de la exactitud de los resultados y de su desempeño histórico. Se realizan algunas comparaciones con modelos propuestos que utilizan la desviación absoluta media (MAD y el error cuadrado medio (MSE las cuales son las medidas tradicionalmente utilizadas para determinar el grado de exactitud de un modelo, lográndose obtener un comportamiento mejor de modelo.Os modelos de séries de tempo são técnicas quantitativas frequentemente utilizadas para realizar prognósticos de variáveis, dentro dos quais se encontram os modelos de suavização, em particular o modelo de suavização com ajuste de tendência, chamado também modelo de Holt, que requer a definição dos parâmetros α e β conhecidos como coeficientes de suavização e dos valores de início que são fundamentais para a sua atualização. Neste artigo propõe-se uma forma de obter estes valores mediante a otimização do alcance do sinal de rastreio (TSR que permitam conseguir um modelo mais confiável desde o ponto de vista da exatidão dos resultados e do seu desempenho histórico. Realizam-se algumas comparações com modelos propostos que utilizam o desvio absoluto médio (MAD e o erro quadrado médio (MSE as quais são as medidas tradicionalmente utilizadas para determinar o grau de exatidão de um modelo, conseguindo-se obter um

  9. Prediction of Tourist Arrivals to the Island of Bali with Holt Method of Winter and Seasonal Autoregressive Integrated Moving Average (SARIMA

    Directory of Open Access Journals (Sweden)

    Agus Supriatna

    2017-11-01

    Full Text Available The tourism sector is one of the contributors of foreign exchange is quite influential in improving the economy of Indonesia. The development of this sector will have a positive impact, including employment opportunities and opportunities for entrepreneurship in various industries such as adventure tourism, craft or hospitality. The beauty and natural resources owned by Indonesia become a tourist attraction for domestic and foreign tourists. One of the many tourist destination is the island of Bali. The island of Bali is not only famous for its natural, cultural diversity and arts but there are also add the value of tourism. In 2015 the increase in the number of tourist arrivals amounted to 6.24% from the previous year. In improving the quality of services, facing a surge of visitors, or prepare a strategy in attracting tourists need a prediction of arrival so that planning can be more efficient and effective. This research used  Holt Winter's method and Seasonal Autoregressive Integrated Moving Average (SARIMA method  to predict tourist arrivals. Based on data of foreign tourist arrivals who visited the Bali island in January 2007 until June 2016, the result of Holt Winter's method with parameter values α=0.1 ,β=0.1 ,γ=0.3 has an error MAPE is 6,171873. While the result of SARIMA method with (0,1,1〖(1,0,0〗12 model has an error MAPE is 5,788615 and it can be concluded that SARIMA method is better. Keywords: Foreign Tourist, Prediction, Bali Island, Holt-Winter’s, SARIMA.

  10. Paralyse af nervus peroneus hos patient med Ehlers-Danlos syndrom

    DEFF Research Database (Denmark)

    Al-Aubaidi, Zaid; Skov, Ole

    2011-01-01

    Ehlers-Danlos syndrome (EDS) is a hereditary generalized connective tissue disorder characterized by skin hyperextensibility, joint hypermobility and tissue fragility. Peripheral neuropathy is described sporadically. Although the exact mechanism of the neuropathy is not well-known, excessive...

  11. Standardiserat arbete i produktionssystemet hos Inission Munkfors AB

    OpenAIRE

    Jonas, Arnesson

    2014-01-01

    Sammanfattning Denna rapport behandlar införandet av standardiserat arbete i produktionssystemet hos företaget Inission Munkfors AB. Arbetet har utförts i kursen Examensarbete för högskoleingenjörsexamen i maskinteknik (MSGC17), som ges vid Fakulteten för hälsa, natur & teknikvetenskap på Karlstads universitet.Företaget Inission Munkfors AB har som mål att från år 2012 till år 2017 kunna fördubbla omsättningen och halvera ledtiden, med samma personalstyrka som år 2012 (75st anställda). De...

  12. Conclusions and recommendations of the European ORAMED project for practical interventional radiology and nuclear medicine

    International Nuclear Information System (INIS)

    Nikodemova, Denisa; Fueloep, Marko; Cabanekova, Helena

    2012-01-01

    The results of the recently published doses obtained by medical staff working in pulsed radiation fields, and performing interventional radiology (IR) or interventional cardiology (IC) procedures, as well as applications of radionuclides in nuclear medicine (NM), have shown significantly high levels of exposure, mainly to the hands and other parts of their bodies uncovered by protective equipment. The coordinated project ORAMED (Optimization of Radiation Protection of Medical Staff) was set-up by participation of 12 European countries and 34 IR/IC and NM departments, with the 5 main tasks: (i) optimization of radiation protection in IR and IC,with the aim to standardize a unified method of extremities and eye lens doses estimation, for 3 cardiac and 5 interventional diagnostic and therapeutic examinations; (ii) verification of the possibilities to use active personal dosemeters for typical pulsed radiation fields used in IR and IC; (iii) contribution to the extremities and eye lens dose reduction in nuclear medicine; (iv) development and application of a suitable eye lens dosemeter; and (v) elaboration of training materials and guidelines for radiation protection issues at IR, IC and NM workplaces. The present study presents some important results and recommendations for dose reduction and avoidance of some typical failures during work near ionizing radiation sources. (P.A.)

  13. Interstitial lung disease in an adult with Fanconi anemia: Clues to the pathogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Rubinstein, W.S.; Wenger, S.L.; Hoffman, R.M. [Univ. of Pittsburgh, PA (United States)] [and others

    1997-03-31

    We have studied a 38-year-old man with a prior diagnosis of Holt-Oram syndrome, who presented with diabetes mellitus. He had recently taken prednisone for idiopathic interstitial lung disease and trimethoprim-sulfamethoxazole for sinusitis. Thrombocytopenia progressed to pancytopenia. The patient had skeletal, cardiac, renal, cutaneous, endocrine, hepatic, neurologic, and hematologic manifestations of Fanconi anemia (FA). Chest radiographs showed increased interstitial markings at age 25, dyspnea began in his late 20s, and he stopped smoking at age 32. At age 38, computerized tomography showed bilateral upper lobe fibrosis, lower lobe honeycombing, and bronchiectasis. Pulmonary function tests, compromised at age 29, showed a moderately severe obstructive and restrictive pattern by age 38. Serum alpha-1 antitrypsin level was 224 (normal 85-213) mg/dL and PI phenotype was M1. Karyotype was 46,X-Y with a marked increase in chromosome aberrations induced in vitro by diepoxybutane. The early onset and degree of pulmonary disease in this patient cannot be fully explained by environmental or known genetic causes. The International Fanconi Anemia Registry (IFAR) contains no example of a similar pulmonary presentation. Gene-environment (ecogenetic) interactions in FA seem evident in the final phenotype. The pathogenic mechanism of lung involvement in FA may relate to oxidative injury and cytokine anomalies. 49 refs., 2 figs., 1 tab.

  14. Skadelig mutation nedsætter frughtbarheden hos de røde racer

    DEFF Research Database (Denmark)

    Sahana, Goutam; Pedersen, Louise Dybdahl

    2014-01-01

    Igennem flere årtier er mælkeydelsen steget støt hos de danske malkekvægracer, og det er én af årsagerne til, at frugtbarheden fortsat er lav, idet der er en ugunstig sammenhæng mellem mælkeydelse og frugtbarhed (fig. 1). Hidtil har man ment, at den ugunstige sammenhæng skyldtes en negativ energi...

  15. HOS cell adhesion on Ti6Al4V surfaces texturized by laser engraving

    Science.gov (United States)

    Sandoval Amador, A.; Carreño Garcia, H.; Escobar Rivero, P.; Peña Ballesteros, D. Y.; Estupiñán Duran, H. A.

    2016-02-01

    The cell adhesion of the implant is determinate by the chemical composition, topography, wettability, surface energy and biocompatibility of the biomaterial. In this work the interaction between human osteosarcoma HOS cells and textured Ti6Al4V surfaces were evaluated. Ti6Al4V surfaces were textured using a CO2 laser in order to obtain circular spots on the surfaces. Test surfaces were uncoated (C1) used as a control surface, and surfaces with points obtained by laser engraving, with 1mm spacing (C2) and 0.5mm (C3). The HOS cells were cultured in RPMI-1640 medium with 10% fetal bovine serum and 1% antibiotics. No cells toxicity after one month incubation time occurred. The increased cell adhesion and cell spreading was observed after 1, 3 and 5 days without significant differences between the sample surfaces (C2 and C3) and control (uncoated) at the end of the experiment.

  16. HOS cell adhesion on Ti6Al4V surfaces texturized by laser engraving

    International Nuclear Information System (INIS)

    Sandoval Amador, A; Carreño Garcia, H; Escobar Rivero, P; Peña Ballesteros, D Y; Estupiñán Duran, H A

    2016-01-01

    The cell adhesion of the implant is determinate by the chemical composition, topography, wettability, surface energy and biocompatibility of the biomaterial. In this work the interaction between human osteosarcoma HOS cells and textured Ti 6 Al 4 V surfaces were evaluated. Ti 6 Al 4 V surfaces were textured using a CO 2 laser in order to obtain circular spots on the surfaces. Test surfaces were uncoated (C1) used as a control surface, and surfaces with points obtained by laser engraving, with 1mm spacing (C2) and 0.5mm (C3). The HOS cells were cultured in RPMI-1640 medium with 10% fetal bovine serum and 1% antibiotics. No cells toxicity after one month incubation time occurred. The increased cell adhesion and cell spreading was observed after 1, 3 and 5 days without significant differences between the sample surfaces (C2 and C3) and control (uncoated) at the end of the experiment. (paper)

  17. HOS cell adhesion on Ti6Al4V ELI texturized by CO2 laser

    Science.gov (United States)

    Sandoval-Amador, A.; Bayona–Alvarez, Y. M.; Carreño Garcia, H.; Escobar-Rivero, P.; Y Peña-Ballesteros, D.

    2017-12-01

    In this work, the response of HOS cells on Ti6Al4V ELI textured surfaces by a CO2 laser was evaluated. The test surfaces were; smooth Ti6Al4V, used as the control, and four textured surfaces with linear geometry. These four surfaces had different separation distances between textured lines, D1 (1000 microns), D2 (750 microns), D3 (500 microns) and D4 (250 microns). Toxicity of textured surfaces was assessed by MTT and the cellular adhesion test was performed using HOS ATCC CRL 1543 line cells. This test was done after 5 days of culture in a RPMI 1640 medium supplemented with 10% fetal bovine serum and 1% antibiotics. The results showed that the linear textures present 23% toxicity after 30 days of incubation, nevertheless, the adhesion tests results are inconclusive in such conditions and therefore the effect of the line separation on the cell adhesion cannot be determined.

  18. Sæsontilpasninger i stofsikftet reducerer lyskravet hos ålegræs (Zostera marina)

    DEFF Research Database (Denmark)

    Stæhr, Peter A.; Borum, Jens

    temperaturer for respiration og fotosyntese hos sommertilpassede planter (5oC og 2o C højere, respektivt). Ved lave og høje temperaturer var metabolisme raterne dog nedsatte i fht vintertilpassede planter. Respirationen var generelt mere følsom end fotosyntesen over for stigende temperaturer, især...... stigende temperaturer, særligt udtalt for vintertilpassede planter. Modeller af EC som funktion af temperaturen for hele planter, blev sammenholdt med data for daglig lys tilgængelighed. Dette viste at de relativt beskedne sæsonbetingede tilpasninger i stofskiftet hos ålegræs var tilstrækkelige til...... beregnet under forskellige kombinationer af sommer temperaturer og lyssvækkelse i vandsøjlen, viste at en forventet temperaturstigning på 5oC har markant mindre betydning for den maksimale dybdeudbredelse af ålegræs end relativt små forringelser i planternes lystilgængelighed. Kombinationen af varmere...

  19. Mestring i morsrollen - En kvalitativ studie av mestringsopplevelser hos nybakte mødre

    OpenAIRE

    Grønlie, Birgitte Vigestad

    2015-01-01

    Master i sosialt arbeid Å bli forelder kan være en overveldende opplevelse. Forskning på̊ feltet viser at det er ulike faktorer som påvirker hvordan mødre i dag opplever barselperioden, og hva som fører til god eller dårlig psykisk helse hos kvinner i barsel. Denne mastergradsoppgaven omhandler hvordan fem nybakte mødre beskriver mestringsopplevelser...

  20. Anden-ordens false belief og sproglig rekursion hos børn med Autisme Spektrum Forstyrrelser

    DEFF Research Database (Denmark)

    Polyanskaya, Irina

    2017-01-01

    En tværfaglig forskningsgruppe fra Roskilde Universitet undersøger forbindelsen mellem udviklingen af sprog og udviklingen af socialkognitive evner hos børn med Autisme Spektrum Forstyrrelser. Projektet er støttet af VELUX FONDEN, og bag projektet står psykolog og ph.d.-studerende Irina Polyanskaya...

  1. 76 FR 37876 - Hours of Service (HOS) of Drivers; Renewal of American Pyrotechnics Association (APA) Exemption...

    Science.gov (United States)

    2011-06-28

    ...-28043] Hours of Service (HOS) of Drivers; Renewal of American Pyrotechnics Association (APA) Exemption... announces the renewal of the exemption of specified members of the American Pyrotechnics Association (APA... of this exemption in effect, designated APA-member motor carriers will maintain a level of safety...

  2. 76 FR 30232 - Hours of Service (HOS) of Drivers; Application of American Pyrotechnics Association (APA) for...

    Science.gov (United States)

    2011-05-24

    ...-28043] Hours of Service (HOS) of Drivers; Application of American Pyrotechnics Association (APA) for... American Pyrotechnics Association (APA) has applied for a limited exemption from FMCSA's regulation that... exemption would apply solely to the operation of CMVs by 9 designated APA-member motor carriers in...

  3. Beating the Clauser-Horne-Shimony-Holt and the Svetlichny games with optimal states

    Science.gov (United States)

    Su, Hong-Yi; Ren, Changliang; Chen, Jing-Ling; Zhang, Fu-Lin; Wu, Chunfeng; Xu, Zhen-Peng; Gu, Mile; Vinjanampathy, Sai; Kwek, L. C.

    2016-02-01

    We study the relation between the maximal violation of Svetlichny's inequality and the mixedness of quantum states and obtain the optimal state (i.e., maximally nonlocal mixed states, or MNMS, for each value of linear entropy) to beat the Clauser-Horne-Shimony-Holt and the Svetlichny games. For the two-qubit and three-qubit MNMS, we showed that these states are also the most tolerant state against white noise, and thus serve as valuable quantum resources for such games. In particular, the quantum prediction of the MNMS decreases as the linear entropy increases, and then ceases to be nonlocal when the linear entropy reaches the critical points 2 /3 and 9 /14 for the two- and three-qubit cases, respectively. The MNMS are related to classical errors in experimental preparation of maximally entangled states.

  4. 77 FR 38378 - Hours of Service (HOS) of Drivers; Revision of Exemption; American Pyrotechnics Association (APA)

    Science.gov (United States)

    2012-06-27

    ...-28043] Hours of Service (HOS) of Drivers; Revision of Exemption; American Pyrotechnics Association (APA... Pyrotechnics Association (APA) that were granted an exemption from FMCSA's prohibition on driving commercial...-July 8, inclusive, in 2011 and 2012. The exemption covered renewal of 53 APA-member motor carriers and...

  5. 76 FR 37880 - Hours of Service (HOS) of Drivers; Granting of Exemption; American Pyrotechnics Association (APA)

    Science.gov (United States)

    2011-06-28

    ...-28043] Hours of Service (HOS) of Drivers; Granting of Exemption; American Pyrotechnics Association (APA... exemption from the American Pyrotechnics Association (APA) on behalf of 9 member motor carriers seeking... such exemption'' (49 U.S.C. 31315(b)(1)). The initial APA application for waiver or exemption relief...

  6. Bifurcations in a discrete time model composed of Beverton-Holt function and Ricker function.

    Science.gov (United States)

    Shang, Jin; Li, Bingtuan; Barnard, Michael R

    2015-05-01

    We provide rigorous analysis for a discrete-time model composed of the Ricker function and Beverton-Holt function. This model was proposed by Lewis and Li [Bull. Math. Biol. 74 (2012) 2383-2402] in the study of a population in which reproduction occurs at a discrete instant of time whereas death and competition take place continuously during the season. We show analytically that there exists a period-doubling bifurcation curve in the model. The bifurcation curve divides the parameter space into the region of stability and the region of instability. We demonstrate through numerical bifurcation diagrams that the regions of periodic cycles are intermixed with the regions of chaos. We also study the global stability of the model. Copyright © 2015 Elsevier Inc. All rights reserved.

  7. THE OCCURRENCE OF THE RADIAL CLUB HAND IN CHILDREN WITH DIFFERENT SYNDROMES

    Directory of Open Access Journals (Sweden)

    Sergey Ivanovich Golyana

    2013-03-01

    Full Text Available Radial club hand is a developmental anomaly of the upper extremity, being characterized as a longitudinal underdevelopment of a forearm and a hand on the radial surface, consisting in a hypo-/ aplazy radial bone and the thumb of various degree of expressiveness. Characteristic symptoms of this developmental anomaly are: shortening and bow-shaped curvature of a forearm, palmar and radial deviation of a hand, underdevelopment of the thumb from its proximal departments and structures, anomaly of development of three-phalanx fingers of a hand (is more often than the 2-4th, violation of a cosmetic condition and functionality of the affected segment. From 2000 for 2012 in FSI SRICO n.a. H.Turner examination and treatment of 23 children with various syndromes at which the radial club hand was revealed are conducted. The main syndromes at which it is revealed radial club hand - Holt-Orama syndrome, TAR- syndrome and VACTERL syndrome. Tactics and techniques of surgical treatment of a radial club hand it various syndromes most often don’t differ from treatment of other types of a radial club hand though demand an individual approach depending on severity and a type of deformation of the upper extremity.

  8. The RNA-binding protein HOS5 and serine/arginine-rich proteins RS40 and RS41 participate in miRNA biogenesis in Arabidopsis

    KAUST Repository

    Chen, Tao

    2015-07-30

    MicroRNAs are a class of small regulatory RNAs that are generated from primary miRNA (pri-miRNA) transcripts with a stem-loop structure. Accuracy of the processing of pri-miRNA into mature miRNA in plants can be enhanced by SERRATE (SE) and HYPONASTIC LEAVES 1 (HYL1). HYL1 activity is regulated by the FIERY2 (FRY2)/RNA polymerase II C-terminal domain phosphatase-like 1 (CPL1). Here, we discover that HIGH OSMOTIC STRESS GENE EXPRESSION 5 (HOS5) and two serine/arginine-rich splicing factors RS40 and RS41, previously shown to be involved in pre-mRNA splicing, affect the biogenesis of a subset of miRNA. These proteins are required for correct miRNA strand selection and the maintenance of miRNA levels. FRY2 dephosphorylates HOS5 whose phosphorylation status affects its subnuclear localization. HOS5 and the RS proteins bind both intronless and intron-containing pri-miRNAs. Importantly, all of these splicing-related factors directly interact with both HYL1 and SE in nuclear splicing speckles. Our results indicate that these splicing factors are directly involved in the biogenesis of a group of miRNA.

  9. The System of Inventory Forecasting in PT. XYZ by using the Method of Holt Winter Multiplicative

    Science.gov (United States)

    Shaleh, W.; Rasim; Wahyudin

    2018-01-01

    Problems at PT. XYZ currently only rely on manual bookkeeping, then the cost of production will swell and all investments invested to be less to predict sales and inventory of goods. If the inventory prediction of goods is to large, then the cost of production will swell and all investments invested to be less efficient. Vice versa, if the inventory prediction is too small it will impact on consumers, so that consumers are forced to wait for the desired product. Therefore, in this era of globalization, the development of computer technology has become a very important part in every business plan. Almost of all companies, both large and small, use computer technology. By utilizing computer technology, people can make time in solving complex business problems. Computer technology for companies has become an indispensable activity to provide enhancements to the business services they manage but systems and technologies are not limited to the distribution model and data processing but the existing system must be able to analyze the possibilities of future company capabilities. Therefore, the company must be able to forecast conditions and circumstances, either from inventory of goods, force, or profits to be obtained. To forecast it, the data of total sales from December 2014 to December 2016 will be calculated by using the method of Holt Winters, which is the method of time series prediction (Multiplicative Seasonal Method) it is seasonal data that has increased and decreased, also has 4 equations i.e. Single Smoothing, Trending Smoothing, Seasonal Smoothing and Forecasting. From the results of research conducted, error value in the form of MAPE is below 1%, so it can be concluded that forecasting with the method of Holt Winter Multiplicative.

  10. River catchment rainfall series analysis using additive Holt-Winters method

    Science.gov (United States)

    Puah, Yan Jun; Huang, Yuk Feng; Chua, Kuan Chin; Lee, Teang Shui

    2016-03-01

    Climate change is receiving more attention from researchers as the frequency of occurrence of severe natural disasters is getting higher. Tropical countries like Malaysia have no distinct four seasons; rainfall has become the popular parameter to assess climate change. Conventional ways that determine rainfall trends can only provide a general result in single direction for the whole study period. In this study, rainfall series were modelled using additive Holt-Winters method to examine the rainfall pattern in Langat River Basin, Malaysia. Nine homogeneous series of more than 25 years data and less than 10% missing data were selected. Goodness of fit of the forecasted models was measured. It was found that seasonal rainfall model forecasts are generally better than the monthly rainfall model forecasts. Three stations in the western region exhibited increasing trend. Rainfall in southern region showed fluctuation. Increasing trends were discovered at stations in the south-eastern region except the seasonal analysis at station 45253. Decreasing trend was found at station 2818110 in the east, while increasing trend was shown at station 44320 that represents the north-eastern region. The accuracies of both rainfall model forecasts were tested using the recorded data of years 2010-2012. Most of the forecasts are acceptable.

  11. More nonlocality with less entanglement in Clauser-Horne-Shimony-Holt experiments using inefficient detectors

    Science.gov (United States)

    Dilley, Daniel; Chitambar, Eric

    2018-06-01

    It is well-known that in certain scenarios weakly entangled states can generate stronger nonlocal effects than their maximally entangled counterparts. In this paper, we consider violations of the Clauser-Horne-Shimony-Holt (CHSH) inequality when one party has inefficient detectors, a scenario known as an asymmetric Bell experiment. For any fixed detection efficiency, we derive a simple upper bound on the entanglement needed to violate the inequality by more than some specified amount κ ≥0 . When κ =0 , the amount of entanglement in all states violating the inequality goes to zero as the detection efficiency approaches 50 % from above. We finally consider the scenario in which detection inefficiency arises for only one choice of local measurement. In this case, it is shown that the CHSH inequality can always be violated for any nonzero detection efficiency and any choice of noncommuting measurements.

  12. Anthropometry in Klinefelter syndrome - multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism

    DEFF Research Database (Denmark)

    Chang, Simon; Skakkebæk, Anne; Trolle, Christian

    2015-01-01

    Lægmandsresume: Kropsmålene hos mænd med Klinefelter syndrom afhænger af genetiske forhold, testosteronbehandling og muligvis testosteronniveauet i fosterlivet. Kun omkring 25-40% af de som fødes med Klinefelter syndrom, får nogensinde stillet diagnosen. Dette kan til dels skyldes, at det kan være...... særdeles vanskeligt at skelne mænd med Klinefelter syndrom fra mænd uden Klinefelter syndrom. Vi har (derfor) gennemført et studie med henblik på at sammenligne en lang række forskellige kropsmål imellem mænd med- og uden Klinefelter syndrom. Vi sammenholdt desuden kropsmålene med forskellige blodprøvesvar...... på bl.a. niveauet af kønshormoner. Vi undersøgte også om genetiske forhold relateret til det ekstra X-kromosom havde nogen effekt på kropsmålene. I alt undersøgte vi 73 mænd med Klinefelter syndrom og 73 mænd uden Klinefelter syndrom. Vi målte en lang række kropsmål som fx benlængde, livvidde mf. Vi...

  13. Studies on the oxidizing system in Holt's medium for histochemical demonstration of esterase activity

    DEFF Research Database (Denmark)

    Kirkeby, S; Blecher, S R

    1978-01-01

    Esterase activity in guinea-pig thyroid and mouse epididymis epithelial cells has been studied using 5-bromoindoxyl acetate as substrate. The pattern of esterase activity in the thyroid of the guinea-pig is constant, irrespective of whether ferri-ferrocyanide (FFC) or certain copper compounds...... cells contain an esterase activity which is not inhibited by conventional SH blocking agents, nor by high concentrations of FFC. From these results it appears that the mode of action of FFC in Holt's medium is as follows. At low concentrations FFC appears to act primarily as a catalytic agent...... in oxidation of indoxyl to indigoid. At high concentration FFC acts as an inhibitor of guinea-pig thyroid esterase, by oxidation of SH groups in the active centre. The esterase of mouse epididymis cell type EH 1 is not subject to this inhibition by FFC, presumably because it does not contain accessible SH...

  14. Alkohol, medicin og narkotikaforekomst hos alvorligt tilskadekomne bilister

    DEFF Research Database (Denmark)

    Bernhoft, Inger Marie; Hels, Tove; Simonsen, Kirsten Wiese

    2012-01-01

    Abstrakt Denne artikel omhandler forekomsten af alkohol, narkotika og medicin hos danske bilister, som er blevet alvorligt skadet i færdselsuheld. Undersøgelsen er baseret på anonyme blodprøver fra 840 førere af person- og varebiler, der blev indbragt til hospitalerne i Odense, Kolding, Vejle...... for undersøgelsen blev der desuden indhentet oplysning om patientens alder og køn, typen af køretøj, uheldsstedet, typen af færdselsuheld, tidspunkt for færdselsuheldet og prøvetagningen samt eventuel medicin, der var blevet givet før udtagning af blodprøven. Alkohol alene eller alkohol sammen med andre stoffer var...... for cannabis (2,3 %) efterfulgt af amfetamin (1,1 %). I alt var 41,6 % af de tilskadekomne i eneuheld positive for stoffer, heraf 30 % for alkohol alene eller alkohol sammen med andre stoffer. For bilister i flerpartsuheld var i alt 19 % positive, heraf knap 9 % for alkohol alene eller alkohol sammen med andre...

  15. Dannelsen af en psykologisk og videnskabelig habitus hos psykologistuderende

    DEFF Research Database (Denmark)

    Feilberg, Casper

    Dannelsen af en psykologisk og videnskabelig habitus hos psykologistuderende, Casper Feilberg Afhandlingen er en empirisk undersøgelse af psykologistuderendes tilegnelse af træk ved en psykologisk og videnskabelig habitus ved psykologistudierne på Roskilde Universitet og Aalborg Universitet. Herved...... bidrager afhandlingen til den overordnede diskussion om, hvad målet med og kvalitet i en universitetsuddannelse skal forstås som. Som udgangspunkt for studiet af psykologistuderendes dannelsesprocesser indføres en analytisk distinktion mellem en psykologisk habitus (fænomen orienteret), og en videnskabelig...... habitus (teoretisk/metodisk). Herved tydeliggøres de studerendes dobbelte opgave der består i, at man må lære at trække på sin egen livsverden på en kvalificeret måde, når man skal forstå andre (psykologisk habitus), men at denne psykologiske sans for problemstillingen også må opkvalificeres via...

  16. Trofiske skift og fysiske faktorer i væksten hos Færøske torsk (Gadus morhua) undersøgt ved brug af stabile isotoper

    DEFF Research Database (Denmark)

    Munk-Nielsen, Jens; Christensen, Jens Tang; Grønkjær, P.

    Projektets formål er at forstå variationen i vækst hos torsk (Gadus Morhua) ved brug af otolither (øresten), og sammenhængen med fysiske faktorer, såsom havstrømme, hav temperatur, osv på den Færøske shelf. Dette undersøges ved hjælp af, 1) en otolith vækst kronologi som dækker mere end 60 år (1948...... en mindre amplitude i variationen af ringbredde end direkte vækst målinger. Over hele vækstkronologien ses en negativ udvikling i væksten hos torsk, dog afbrudt af kortere perioder med positiv vækst. De stabile isotop prøver udtages fra hele otolitter fra 5 år gamle torsk. Fra protein delen af...... omgivelser torsken har oplevet, især den omgivende temperatur. Karbon signalet fra den uorganiske del af otolitten vil blive sammenlignet med værdierne i protein delen. De stabile isotop-værdier, samt vækst data vil blive analyseret for at se sammenhængen mellem klimaet og væksten hos torsk. Både lokalt, med...

  17. Overexpression of an orchid (Dendrobium nobile SOC1/TM3-like ortholog, DnAGL19, in Arabidopsis regulates HOS1-FT expression

    Directory of Open Access Journals (Sweden)

    Xiao-ru eLiu

    2016-02-01

    Full Text Available Flowering in the appropriate season is critical for successful reproduction in angiosperms. The orchid species, Dendrobium nobile, requires vernalization to achieve flowering in the spring, but the underlying regulatory network has not been identified to date. The MADS-box transcription factor DnAGL19 was previously identified in a study of low-temperature treated D. nobile buds and was suggested to regulate vernalization-induced flowering. In this study, phylogenetic analysis of DnAGL9 and the MADS-box containing proteins showed that DnAGL19 is phylogenetically closely related to the SOC1-like protein from orchid Dendrobium Chao Parya Smile, DOSOC1. The orchid clade closed to but is not included into the SOC1-1/TM3 clades associated with either eudicots or monocots, suggesting that DnAGL19 is an SOC1-1/TM3-like ortholog. DnAGL19 was found to be highly expressed in pseudobulbs, leaves, roots and axillary buds but rarely in flowers, and to be substantially upregulated in axillary buds by prolonged low-temperature treatments. Overexpression of DnAGL19 in Arabidopsis thaliana resulted in a small but significantly reduced time to bolting, suggesting that flowering time was slightly accelerated under normal growth conditions. Consistent with this, the A. thaliana APETELA1 (AP1 gene was expressed at an earlier stage in transgenic lines than in wild type plants, while the FLOWERING LOCUS T (FT gene was suppressed, suggesting that altered regulations on these transcription factors caused the weak promotion of flowering. HIGH EXPRESSION OF OSMOTICALLY RESPONSIVE GENE 1 (HOS1 was slightly activated under the same conditions, suggesting that the HOS1-FT module may be involved in the DnAGL19-related network. Under vernalization conditions, FT expression was significantly upregulated, whereas HOS1 expression in the transgenic A. thaliana has a level similar to that in wild type. Taken together, these results suggest that DnAGL19 controls the action of the

  18. A unified view on Hardyʼs paradox and the Clauser-Horne-Shimony-Holt inequality

    Science.gov (United States)

    Mančinska, L.; Wehner, S.

    2014-10-01

    Bell's inequality fundamentally changed our understanding of quantum mechanics. Bell's insight that non-local correlations between quantum systems cannot be explained classically can be verified experimentally, and has numerous applications in modern quantum information. Today, the Clauser-Horne-Shimony-Holt (CHSH) inequality is probably the most well-known Bell inequality and it has given us a wealth of understanding in what differentiates the classical from the quantum world. Yet, there are certainly other means of quantifying ‘Bell non-locality without inequalities’ such as the famous Hardy's paradox. As such, one may wonder whether these are entirely different approaches to non-locality. For this anniversary issue, we unify the perspective of the CHSH inequality and Hardy’s paradox into one family of non-local games which include both as special cases. This article is part of a special issue of Journal of Physics A: Mathematical and Theoretical devoted to ‘50 years of Bell’s theorem’.

  19. Når alderen indhenter én. Kropslighed, aldring og profession hos gymnasiets idrætslærere. Ph.d. afhandling

    DEFF Research Database (Denmark)

    Christensen, Mette Krogh

    Når alderen indhenter én – om kropslighed, aldring og profession hos gymnasiets idrætslærere er en ph.d.-afhandling udarbejdet af Mette Krogh Christensen på Institut for Idræt (Afdeling for Historie og Samfundsvidenskab), Københavns Universitet. Afhandlingen handler om, på hvilken måde alder spil...

  20. An Alternative Forecasting Using Holt-Winter Damped Trend for Soekarno-Hatta Airport Passenger Volume

    Directory of Open Access Journals (Sweden)

    Arum Handini Primandari

    2017-02-01

    Full Text Available Located in the capital city of Indonesia, Soekarno-Hatta Airport is considered as the main airport. Since there are some aviation companies providing low cost flight, the number people coming and leaving trough this airport has increased. The passenger volume can be considered as seasonal data since it shows increment in particular months, such as long holiday. Knowing in advance the volume of passenger will help the government to improve its service effectively. There is a simple and accurate method for forecasting seasonal data that is called Holt-Winter Exponential Smoothing (HWE. However, HWE always encounters over forecasting problem when it is employed to forecast in some future periods (m>1. In order to solve this problem, we add the damped parameter that will be damping the exponentially growth on HWE. This method called HWE damped trend. We employed the domestic passenger volume data of Soekarno-Hatta Airport from January 2008 till December 2015. This data collected from prior research. As the result, HWE damped trend outperforms traditional HWE on either training data set or testing data.

  1. Idiopatisk pulmonal hæmosiderose hos en et-årig piga med Down syndrom

    DEFF Research Database (Denmark)

    Lewis, Anna Elisabeth; Høi-Hansen, Christina Engel; Buchvald, Frederik

    2014-01-01

    Idiopathic pulmonary haemosiderosis (IPH) is a rare disease. We describe a girl with Down syndrome who had no major respiratory symptoms until one year of age, where recurrent airway infections and chronic anaemia of unknown aetiology developed. At 20 months of age she had intermittent haemo...

  2. Externally Verifiable Oblivious RAM

    Directory of Open Access Journals (Sweden)

    Gancher Joshua

    2017-04-01

    Full Text Available We present the idea of externally verifiable oblivious RAM (ORAM. Our goal is to allow a client and server carrying out an ORAM protocol to have disputes adjudicated by a third party, allowing for the enforcement of penalties against an unreliable or malicious server. We give a security definition that guarantees protection not only against a malicious server but also against a client making false accusations. We then give modifications of the Path ORAM [15] and Ring ORAM [9] protocols that meet this security definition. These protocols both have the same asymptotic runtimes as the semi-honest original versions and require the external verifier to be involved only when the client or server deviates from the protocol. Finally, we implement externally verified ORAM, along with an automated cryptocurrency contract to use as the external verifier.

  3. Walter Max Dale (formerly Deutsch) (1894-1969): pioneer and eminent radiobiochemist at the Christie Hospital and Holt Radium Institute, Manchester.

    Science.gov (United States)

    Shreeve, David R

    2010-05-01

    The political upheaval in Germany in 1933 and subsequent movement of medical scholars with the support of the Rockefeller Foundation allowed Manchester to benefit from the arrival of Dr Walter Deutsch, later known as Dr Walter Dale. His research background enabled him to develop a radiobiochemistry laboratory at the Christie Hospital and Holt Radium Institute where he became a world authority on the effects of X-rays on enzymes and also the protective effect of additional solutes. In 1959 he initiated and then edited the International Journal of Radiation Biology. By the time of his retirement in 1962 the strength of his research resulted in his laboratory being recognized by the Medical Research Council.

  4. Læring i praksis. Tilrettelegging for å fremme refleksjonskompetanse og læringsutbytte hos studenter i praksis. Erfaringer fra en pilotstudie.

    Directory of Open Access Journals (Sweden)

    Kari Høium

    2009-02-01

    Full Text Available Studien belyser erfaringer med en tilpasset veiledningsmodell i gruppe, for å styrke profesjonell kompetanse hos vernepleiestudenter i praksis. Intervensjonen er gjennomført i forhold til 32 bachelorstudenter fra tre ulike kull. Den tar utgangspunkt i en obligatorisk veiledningsgruppe som foregår inne på høgskolen, midtveis i en av deres praksisperioder. Hovedmålsettingen var å se i hvilken grad veiledningsmodellen bidro til utbytte og læringseffekt i forhold til målsetting for praksisperioden. Et annet mål med studien har vært å skaffe erfaringer med hvordan refleksjon og kritisk tenkning kan læres gjennom praktisk student veiledning. Resultater fra undersøkelsen viste at den tilpassede veiledningsmodellen som her ble benyttet, bidro til å fremme refleksjonskompetanse og læringsutbytte hos studentene. Dette gir grunnlag for videre optimisme med tanke på å styrke vernepleiestudentenes læring og profesjonelle kompetanse. Betydningen forsterkes ved at refleksjonskompetanse fremheves som en sentral kvalitetsvariabel, både fra myndighetene og fra fagfeltet. En videre utfordring vil være å raffinere modellen ytterligere med tanke på utprøving og tilpasset implementering gjennom ulike praksisperioder i studiet.

  5. 15-åringers opplevelser av overvekt hos jevnaldrende, en fenomenologisk-hermeneutisk studie

    Directory of Open Access Journals (Sweden)

    Reidun Rognsaa

    2011-06-01

    Full Text Available Hensikten med denne studien er å studere hvordan 15-åringer opplever overvekt hos jevnaldrende. Datamaterialet består av dybdeintervju med syv ungdommer. Det er benyttet fenomenologisk-hermeneutisk analyse. Ungdommene opplever å stå i en posisjon mellom makt og avmakt. I denne mellomposisjonen framkommer det at ungdommene distanserer seg ved hjelp av relasjonell makt, men samtidig setter de seg selv i en avmaktssituasjon i forhold til ungdomskulturens spilleregler. Ungdommene moraliserer ved å skape en situasjon hvor de underkjenner overvektige, samtidig mangler de ytterligere sanksjoneringsmuligheter. Rangordninger skapes gjennom at ungdommene degraderer overvektige, men de må selv også innordne seg i egen kultur. Ungdommene fratar overvektige sitt menneskeverd gjennom å redusere menneskelige egenskaper og gjør dem til objekt. Gjennom denne objektiviseringen setter de seg selv utenfor det å få tak i overvektiges refleksjons- og erfaringsgrunnlag.

  6. Generel populationsscreening af mentalt helbred hos småbørn

    DEFF Research Database (Denmark)

    Ammitzbøll, Janni; Skovgaard, Anne Mette; Kreiner, Svend

    Psykiske vanskeligheder rammer mere end 10 % af børnepopulationen, og udgør de hyppigste årsager til sociale og helbredsmæssige problemer hos børn og unge. De fleste former for psykiske forstyrrelser opstår tidligt i livet, og intervention i førskolealderen vil kunne begrænse udviklingen af...... autismetilstande, adfærdsforstyrrelser og ADHD. Resultater fra det danske forløbsstudie CCC2000 har vist at mentale helbredsproblemer kan opspores ved sundhedsplejerskernes hjemmebesøg. Forudsætningen er, at der foreligger valide screeningsmetoder, hvilket der ikke gør i dag. Der findes således ikke validerede...... hyppighed i normalbefolkningen. Undersøgelsen viser at validiteten er høj og at PUF er egnet til populationsscreening. Analyser af den prædiktive validitet af PUF er i gang, og der er planlagt udvikling af en interventionsmetode, der kan kobles til PUF screeningen. Såfremt tidlig intervention baseret på PUF...

  7. Syndromic surveillance using veterinary laboratory data: algorithm combination and customization of alerts.

    Science.gov (United States)

    Dórea, Fernanda C; McEwen, Beverly J; McNab, W Bruce; Sanchez, Javier; Revie, Crawford W

    2013-01-01

    Syndromic surveillance research has focused on two main themes: the search for data sources that can provide early disease detection; and the development of efficient algorithms that can detect potential outbreak signals. This work combines three algorithms that have demonstrated solid performance in detecting simulated outbreak signals of varying shapes in time series of laboratory submissions counts. These are: the Shewhart control charts designed to detect sudden spikes in counts; the EWMA control charts developed to detect slow increasing outbreaks; and the Holt-Winters exponential smoothing, which can explicitly account for temporal effects in the data stream monitored. A scoring system to detect and report alarms using these algorithms in a complementary way is proposed. The use of multiple algorithms in parallel resulted in increased system sensitivity. Specificity was decreased in simulated data, but the number of false alarms per year when the approach was applied to real data was considered manageable (between 1 and 3 per year for each of ten syndromic groups monitored). The automated implementation of this approach, including a method for on-line filtering of potential outbreak signals is described. The developed system provides high sensitivity for detection of potential outbreak signals while also providing robustness and flexibility in establishing what signals constitute an alarm. This flexibility allows an analyst to customize the system for different syndromes.

  8. Juvenil polypose-syndrom og hereditær hæmoragisk telangiektasi hos en patient med SMAD4-mutation

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Tørring, Pernille Mathiesen; Wikman, Friedrik

    2014-01-01

    Germ line mutations in SMAD4 can cause both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome. In this case we present a 37-year-old man with a frameshift mutation in SMAD4. The patient had multiple polyps in the gastrointestinal tract and was diagnosed with colon ca...... cancer at the age of 21 and gastro-oesophageal junction cancer at the age of 37. Furthermore the patient had telangiectasias and recurrent epistaxis....

  9. The paracrine effect of exogenous growth hormone alleviates dysmorphogenesis caused by tbx5 deficiency in zebrafish (Danio rerio embryos

    Directory of Open Access Journals (Sweden)

    Tsai Tzu-Chun

    2012-07-01

    Full Text Available Abstract Background Dysmorphogenesis and multiple organ defects are well known in zebrafish (Danio rerio embryos with T-box transcription factor 5 (tbx5 deficiencies, mimicking human Holt-Oram syndrome. Methods Using an oligonucleotide-based microarray analysis to study the expression of special genes in tbx5 morphants, we demonstrated that GH and some GH-related genes were markedly downregulated. Zebrafish embryos microinjected with tbx5-morpholino (MO antisense RNA and mismatched antisense RNA in the 1-cell stage served as controls, while zebrafish embryos co-injected with exogenous growth hormone (GH concomitant with tbx5-MO comprised the treatment group. Results The attenuating effects of GH in tbx5-MO knockdown embryos were quantified and observed at 24, 30, 48, 72, and 96 h post-fertilization. Though the understanding of mechanisms involving GH in the tbx5 functioning complex is limited, exogenous GH supplied to tbx5 knockdown zebrafish embryos is able to enhance the expression of downstream mediators in the GH and insulin-like growth factor (IGF-1 pathway, including igf1, ghra, and ghrb, and signal transductors (erk1, akt2, and eventually to correct dysmorphogenesis in various organs including the heart and pectoral fins. Supplementary GH also reduced apoptosis as determined by a TUNEL assay and decreased the expression of apoptosis-related genes and proteins (bcl2 and bad according to semiquantitative reverse-transcription polymerase chain reaction and immunohistochemical analysis, respectively, as well as improving cell cycle-related genes (p27 and cdk2 and cardiomyogenetic genes (amhc, vmhc, and cmlc2. Conclusions Based on our results, tbx5 knockdown causes a pseudo GH deficiency in zebrafish during early embryonic stages, and supplementation of exogenous GH can partially restore dysmorphogenesis, apoptosis, cell growth inhibition, and abnormal cardiomyogenesis in tbx5 knockdown zebrafish in a paracrine manner.

  10. Aplicación teórica del método Holt-Winters al problema de Credit Scoring

    Directory of Open Access Journals (Sweden)

    Humberto Banda Ortiz

    2016-03-01

    Full Text Available El incremento de las instituciones de microfinanzas (imf en México ha agudizado la competencia entre estas instituciones para aumentar su participación de mercado. No obstante las imf deben de valorar de manera adecuada el otorgamiento de créditos a sus clientes potenciales. Que los posibles clientes puedan pagar o no sus créditos depende directamente de los flujos de efectivo que generen por sus operaciones. En este trabajo se hace una revisión de la literatura de los trabajos más relevantes sobre los diferentes modelos de credit scoring y se propone una metodología teórica para analizar el riesgo de crédito en la concesión de microcréditos a partir de los flujos de efectivo esperados haciendo énfasis en la estacionalidad que dichos flujos presentan. Para ello se emplea el método Holt-Winters de pronóstico no lineal, con el fin de predecir el riesgo de que un cliente pague un préstamo (credit scoring.

  11. Hälsofrämjande fysisk aktivitet hos personer under adjuvant cancerbehandling relaterad till fatigue, livskvalitet samt self-efficacy

    OpenAIRE

    Zetterlund, Johanna

    2016-01-01

    Bakgrund Cancerdrabbade lider ofta av cancerrelaterad fatigue (CRF) och försämrad livskvalitet under och efter behandling. Hälsofrämjande fysisk aktivitet (HFA) kan minska risken för dessa negativa konsekvenser. HFA påverkas bl.a. av träningsrelaterad self-efficacy, dvs tilltron till egen förmåga att vara fysisk aktiv. Syfte Att undersöka HFA hos personer under adjuvant cancerbehandling vid diagnos och efter sex månader samt att undersöka om de med en stabil HFA hade lägre CRF, högre livskval...

  12. Radiation Dosimetry Using Three-Dimensional Optical Random Access Memories

    International Nuclear Information System (INIS)

    Moscovitch, M.

    2001-01-01

    The ability to determine particle type and energy plays an important role in the dosimetry of heavy charged particles (HCP) and neutrons. A new approach to radiation dosimetry is presented, which is shown to be capable of particle type and energy discrimination. This method is based on utilizing radiation induced changes in the digital information stored on three-dimensional optical random access memories (3D ORAM). 3D ORAM is a small cube (a few mm 3 ) composed of poly(methyl methacrylate) doped with a photochromic dye, and it was originally proposed as a memory device in high speed parallel computers. A Nd:YAG laser system is used to write and read binary information (bits) on the ORAM, which functions as a charged particle detector. Both the read and the write processes use two laser beams that simultaneously strike the material to cause a color change at their intersection (similar to the darkening of light-sensitive sunglasses when exposed to sunlight.) The laser produces color changes in the ORAM, which then reverts to the original color (''bit-flips'') at sites where energy is deposited from interaction with incident HCP or neutron-recoil protons. The feasibility of this approach was demonstrated both theoretically and experimentally. Calculations based on track structure theory (TST) predict that when HCP interact with the ORAM material, the local energy deposition is capable of inducing measurable ''bit-flips''. These predictions were recently confirmed experimentally using two types of ORAM systems, one based on spirobenzopyran and the other on anthracene, as the photochromic dyes

  13. Radiation dosimetry using three-dimensional optical random access memories

    International Nuclear Information System (INIS)

    Moscovitch, M.; Phillips, G.W.; Cullum, B.M.; Mobley, J.; Bogard, J.S.; Emfietzoglou, D.; Vo-Dinh, T.

    2002-01-01

    The ability to determine particle type and energy plays an important role in the dosimetry of heavy charged particles (HCP) and neutrons. A new approach to radiation dosimetry is presented, which is shown to be capable of particle type and energy discrimination. This method is based on utilising radiation induced changes in the digital information stored on three-dimensional optical random access memories (3D ORAM). 3D ORAM is a small cube (a few mm 3 ) composed of poly(methyl methacrylate) doped with a photochromic dye, and it was originally proposed as a memory device in high speed parallel computers. A Nd:YAG laser system is used to write and read binary information (bits) on the ORAM, which functions as a charged particle detector. Both the read and the write processes use two laser beams that simultaneously strike the material to cause a colour change at their intersection (similar to the darkening of light-sensitive sunglasses when exposed to sunlight). The laser produces colour changes in the ORAM, which then reverts to the original colour ('bit-flips') at sites where energy is deposited from interaction with incident HCP or neutron-recoil protons. The feasibility of this approach was demonstrated both theoretically and experimentally. Calculations based on track structure theory predict that when HCP interact with the ORAM material, the local energy deposition is capable of inducing measurable 'bit-flips'. These predictions were recently confirmed experimentally using two types of ORAM systems, one based on spirobenzopyran and the other on anthracene, as the photochromic dyes. (author)

  14. Omvårdnadsåtgärder för att minska rädsla, oro och ångest hos barn 0-18 år i samband med en röntgenundersökning : En litteraturstudie

    OpenAIRE

    Mohsen, Nadja; Imsirovic, Amela

    2016-01-01

    Bakgrund: Att besöka en röntgenavdelning kan vara något nytt och skrämmande för många barn. Den nya miljön kan orsaka rädsla, oro och ångest hos barn. Därför är det viktigt att röntgensjuksköterskan har kunskap om barnets behov för att upplevelsen på röntgenavdelningen ska vara så bra som möjligt. Syfte: Syftet med den här studien är att beskriva omvårdnadsåtgärder för att minska rädsla, oro och ångest hos barn 0-18 år i samband med röntgenundersökning. Metod: Detta arbete är en litteraturstu...

  15. KR’PTA. Samtidspoesin och Derrida : Spår och ärrbildningar hos Johannes Heldén, Ingrid Storholmen och Anna Hallberg

    OpenAIRE

    Schmidt, Lisa

    2006-01-01

    Lisa Schmidt, KR’PTA. Samtidspoesin och Derrida. Spår och ärrbildningar hos Johannes Hel­dén, Ingrid Storholmen och Anna Hallberg. (CR’PT. Contemporary Poetry and Derrida: Traces and Scarring in the Poetry of Johannes Heldén, Ingrid Storholmen and Anna Hallberg.) Through the analyses of three contemporary Nordic poets whose work challenges the boun­daries of literature and even the laws of grammar, I draw attention to the term linguistic materialism. I also sketch an historical line between t...

  16. NRDA-processed CTD data from the HOS Davis in the Gulf of Mexico, Cruise 3 Leg 1, collected from 2010-09-09 to 2010-09-27, associated with the Deepwater Horizon Oil Spill event (NCEI Accession 0130017)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Conductivity Temperature and Depth (CTD) measurements were collected aboard the R/V HOS Davis, Cruise 03, to determine physical oceanographic parameters of the water...

  17. NRDA-processed CTD data from the HOS Davis in the Gulf of Mexico, Cruise 1 Leg 1, collected from 2010-08-13 to 2010-08-22, associated with the Deepwater Horizon Oil Spill event (NCEI Accession 0128072)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Conductivity Temperature and Depth (CTD) measurements were collected aboard the R/V HOS Davis, Cruise 01, to determine physical oceanographic parameters of the water...

  18. NRDA-processed CTD data from the HOS Davis in the Gulf of Mexico, Cruise 4 Leg 1, collected from 2010-11-07 to 2010-11-14, associated with the Deepwater Horizon Oil Spill event (NCEI Accession 0130023)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Conductivity Temperature and Depth (CTD) measurements were collected aboard the R/V HOS Davis, Cruise 04, to determine physical oceanographic parameters of the water...

  19. NRDA-processed CTD data from the HOS Davis in the Gulf of Mexico, Cruise 2 Leg 1, collected from 2010-08-26 to 2010-09-02, associated with the Deepwater Horizon Oil Spill event (NCEI Accession 0128093)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Conductivity Temperature and Depth (CTD) measurements were collected aboard the R/V HOS Davis, Cruise 02, to determine physical oceanographic parameters of the water...

  20. High Rate of Return to Yoga for Athletes After Hip Arthroscopy for Femoroacetabular Impingement Syndrome.

    Science.gov (United States)

    Frank, Rachel M; Ukwuani, Gift; Allison, Bradley; Clapp, Ian; Nho, Shane J

    2018-02-01

    Femoroacetabular impingement syndrome (FAIS) is most commonly diagnosed in patients who perform activities that require repetitive hip flexion and rotational loading. Yoga is an activity growing in popularity that involves these motions. The purpose of this study was to evaluate patients' ability to return to yoga after hip arthroscopy for FAIS. There would be a high rate of return to yoga after hip arthroscopy. Retrospective analysis. Level 4. Consecutive patients with FAIS who had identified themselves as participating in yoga and had undergone hip arthroscopy for the treatment of FAIS between 2012 and 2015 were reviewed. Demographic data were collected and assessed for all patients, as well as preoperative physical examination, imaging, and patient-reported outcome (PRO) scores, including the modified Harris Hip Score (mHHS), Hip Outcome Score Activities of Daily Living (HOS-ADL) and Sports-Specific (HOS-SS) subscales, and visual analog scale (VAS) for pain. Postoperatively, examination and PRO data were collected at a minimum 1 year after surgery, including a yoga-specific questionnaire. A total of 42 patients (90% female; mean age, 35 ± 9 years; mean body mass index, 23.1 ± 3.2 kg/m 2 ) were included. Thirty patients (71%) had to discontinue their yoga routine preoperatively because of hip-related symptoms at a mean 9.5 ± 8.2 months before surgery. After surgery, 39 patients (93%) were able to return to yoga at a mean 5.3 ± 2.2 months after surgery. Two of the 3 patients who did not return to yoga noted loss of interest as their reason for stopping, while 1 patient was unable to return because of persistent hip pain. Nineteen patients (45%) returned to a higher level of yoga practice, 17 patients (40%) returned to the same level, and 3 patients (7%) returned to a lower level. There was no difference in the number of hours spent practicing yoga per week pre- and postoperatively (2.7 ± 1.9 vs 2.5 ± 1.3 hours; P = 0.44). All patients demonstrated

  1. Staphylococcal scalded skin syndrome hos voksne

    DEFF Research Database (Denmark)

    Mikkelsen, Carsten Sauer; Mikkelsen, Dorthe Bisgaard; Jensen, Thøger Gorm

    2010-01-01

    parts of her body. The bullae ruptured easily and left a erythematous base. The histopathological changes were characteristic for adult SSSS. The patient was well-treated with intravenous dicloxacillin, topical antibiotic and antiseptic treatment. The patient had marked thrombocytosis, but no interest...

  2. High Rate of Return to High-Intensity Interval Training After Arthroscopic Management of Femoroacetabular Impingement Syndrome.

    Science.gov (United States)

    Riff, Andrew J; Ukwuani, Gift; Clapp, Ian; Movassaghi, Kamran; Kelly, D Michael; Nho, Shane J

    2018-06-01

    Since the inception of CrossFit in 2000, the popularity of high-intensity interval training (HIIT) in the United States has risen dramatically. While HIIT is a highly efficient exercise for weight loss and improved conditioning, some literature reports injuries in up to 34% of HIIT participants. We sought to evaluate the functional and sports-specific results of hip arthroscopic surgery in recreational HIIT participants. To evaluate patients' ability to return to HIIT after hip arthroscopic surgery for femoroacetabular impingement syndrome (FAIS). Case series; Level of evidence, 4. Consecutive patients with FAIS who had identified themselves as participating in HIIT and had undergone hip arthroscopic surgery for the treatment of FAIS by a single fellowship-trained surgeon between 2012 and 2015 were reviewed. Demographic data; preoperative physical examination findings; preoperative imaging results; preoperative patient-reported outcome (PRO) scores including the modified Harris Hip Score (mHHS), Hip Outcome Score-Activities of Daily Living (HOS-ADL), Hip Outcome Score-Sports-Specific Subscale (HOS-SSS), and visual analog scale (VAS) for pain; and postoperative examination and PRO scores at a minimum 2 years after surgery, including a HIIT-specific questionnaire, were assessed for all patients. Thirty-two patients (13 male, 19 female) with a mean age of 34.7 ± 6.9 years (range, 21-49 years) were identified with a minimum 24-month follow-up. Among these, 22 participated in CrossFit, 4 in Shred415, 3 in Orangetheory, and 3 in self-directed cross-training including plyometrics. Preoperatively, 14 patients had discontinued HIIT because of activity-related hip complaints, 17 patients had scaled back involvement in HIIT, and 1 patient maintained her baseline routine. Postoperatively, 28 of 32 patients (88%) returned to HIIT at a mean of 9.8 ± 5.7 months after surgery (range, 3-24 months); 96% returned to HIIT at the same level as or better than before the injury. Fear

  3. Automated time series forecasting for biosurveillance.

    Science.gov (United States)

    Burkom, Howard S; Murphy, Sean Patrick; Shmueli, Galit

    2007-09-30

    For robust detection performance, traditional control chart monitoring for biosurveillance is based on input data free of trends, day-of-week effects, and other systematic behaviour. Time series forecasting methods may be used to remove this behaviour by subtracting forecasts from observations to form residuals for algorithmic input. We describe three forecast methods and compare their predictive accuracy on each of 16 authentic syndromic data streams. The methods are (1) a non-adaptive regression model using a long historical baseline, (2) an adaptive regression model with a shorter, sliding baseline, and (3) the Holt-Winters method for generalized exponential smoothing. Criteria for comparing the forecasts were the root-mean-square error, the median absolute per cent error (MedAPE), and the median absolute deviation. The median-based criteria showed best overall performance for the Holt-Winters method. The MedAPE measures over the 16 test series averaged 16.5, 11.6, and 9.7 for the non-adaptive regression, adaptive regression, and Holt-Winters methods, respectively. The non-adaptive regression forecasts were degraded by changes in the data behaviour in the fixed baseline period used to compute model coefficients. The mean-based criterion was less conclusive because of the effects of poor forecasts on a small number of calendar holidays. The Holt-Winters method was also most effective at removing serial autocorrelation, with most 1-day-lag autocorrelation coefficients below 0.15. The forecast methods were compared without tuning them to the behaviour of individual series. We achieved improved predictions with such tuning of the Holt-Winters method, but practical use of such improvements for routine surveillance will require reliable data classification methods.

  4. Chemical and physical oceanographic profile data collected from CTD casts aboard the HOS Davis in the Gulf of Mexico from 2010-08-26 to 2010-09-03 in response to the Deepwater Horizon oil spill event (NODC Accession 0069070)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Chemical and physical oceanographic profile data were collected aboard the HOS Davis in the Gulf of Mexico from 2010-08-26 to 2010-09-03 in response to the Deepwater...

  5. Chemical and physical oceanographic profile data collected from CTD casts aboard the HOS Davis in the Gulf of Mexico from 2010-09-09 to 2010-09-27 in response to the Deepwater Horizon oil spill event (NODC Accession 0069071)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Chemical and physical oceanographic profile data were collected aboard the HOS Davis in the Gulf of Mexico from 2010-09-09 to 2010-09-27 in response to the Deepwater...

  6. Chemical and physical oceanographic profile data collected from CTD casts aboard the HOS Davis in the Gulf of Mexico from 2010-08-13 to 2010-08-22 in response to the Deepwater Horizon oil spill event (NODC Accession 0069069)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Chemical and physical oceanographic profile data were collected aboard the HOS Davis in the Gulf of Mexico from 2010-08-13 to 2010-08-22 in response to the Deepwater...

  7. Predicting paddlefish roe yields using an extension of the Beverton–Holt equilibrium yield-per-recruit model

    Science.gov (United States)

    Colvin, M.E.; Bettoli, Phillip William; Scholten, G.D.

    2013-01-01

    Equilibrium yield models predict the total biomass removed from an exploited stock; however, traditional yield models must be modified to simulate roe yields because a linear relationship between age (or length) and mature ovary weight does not typically exist. We extended the traditional Beverton-Holt equilibrium yield model to predict roe yields of Paddlefish Polyodon spathula in Kentucky Lake, Tennessee-Kentucky, as a function of varying conditional fishing mortality rates (10-70%), conditional natural mortality rates (cm; 9% and 18%), and four minimum size limits ranging from 864 to 1,016mm eye-to-fork length. These results were then compared to a biomass-based yield assessment. Analysis of roe yields indicated the potential for growth overfishing at lower exploitation rates and smaller minimum length limits than were suggested by the biomass-based assessment. Patterns of biomass and roe yields in relation to exploitation rates were similar regardless of the simulated value of cm, thus indicating that the results were insensitive to changes in cm. Our results also suggested that higher minimum length limits would increase roe yield and reduce the potential for growth overfishing and recruitment overfishing at the simulated cm values. Biomass-based equilibrium yield assessments are commonly used to assess the effects of harvest on other caviar-based fisheries; however, our analysis demonstrates that such assessments likely underestimate the probability and severity of growth overfishing when roe is targeted. Therefore, equilibrium roe yield-per-recruit models should also be considered to guide the management process for caviar-producing fish species.

  8. A HOS-based blind deconvolution algorithm for the improvement of time resolution of mixed phase low SNR seismic data

    International Nuclear Information System (INIS)

    Hani, Ahmad Fadzil M; Younis, M Shahzad; Halim, M Firdaus M

    2009-01-01

    A blind deconvolution technique using a modified higher order statistics (HOS)-based eigenvector algorithm (EVA) is presented in this paper. The main purpose of the technique is to enable the processing of low SNR short length seismograms. In our study, the seismogram is assumed to be the output of a mixed phase source wavelet (system) driven by a non-Gaussian input signal (due to earth) with additive Gaussian noise. Techniques based on second-order statistics are shown to fail when processing non-minimum phase seismic signals because they only rely on the autocorrelation function of the observed signal. In contrast, existing HOS-based blind deconvolution techniques are suitable in the processing of a non-minimum (mixed) phase system; however, most of them are unable to converge and show poor performance whenever noise dominates the actual signal, especially in the cases where the observed data are limited (few samples). The developed blind equalization technique is primarily based on the EVA for blind equalization, initially to deal with mixed phase non-Gaussian seismic signals. In order to deal with the dominant noise issue and small number of available samples, certain modifications are incorporated into the EVA. For determining the deconvolution filter, one of the modifications is to use more than one higher order cumulant slice in the EVA. This overcomes the possibility of non-convergence due to a low signal-to-noise ratio (SNR) of the observed signal. The other modification conditions the cumulant slice by increasing the power of eigenvalues of the cumulant slice, related to actual signal, and rejects the eigenvalues below the threshold representing the noise. This modification reduces the effect of the availability of a small number of samples and strong additive noise on the cumulant slices. These modifications are found to improve the overall deconvolution performance, with approximately a five-fold reduction in a mean square error (MSE) and a six

  9. Familjearbetaren hos en ensamförsörjare : en kvalitativ studie om ensamförsörjarens livssituation och hur familjearbetet påverkas

    OpenAIRE

    Sjöblom, Mikaela; Azimi, Diana

    2013-01-01

    Syftet med vårt lärdomsprov är att redogöra för familjearbetarnas åsikter om familjearbetet har specifika drag i utförandet av det hos familjer med en försörjare. I teoridelen tas det upp om familjepolitiken i Finland, familjearbete samt om hur en ensamförsörjares livssituation kan se ut. I undersökningen använde vi oss av kvalitativa forskningsintervjuer. Undersökningspersonerna bestod av åtta familjearbetare från fyra olika kommuner. Intervjuerna gjordes både i grupper och som individue...

  10. Musikterapi med kontakt- og kommunikationssvage børn

    DEFF Research Database (Denmark)

    Frederiksen, Britta Vinkler

    2009-01-01

    I artiklen beskrives, hvordan musikterapi er med til at støtte en målrettet udviklingsproces hos børn, med diagnoser som Asperger syndrom, autisme, opmærksomhedsforstyrrelser, ADHD o.lign. Musikkens kvaliteter beskrives og illustreres gennem vignetter fra terapiforløb, der alle er foregået i Klinik...

  11. Multi-feature snore sound analysis in obstructive sleep apnea–hypopnea syndrome

    International Nuclear Information System (INIS)

    Karunajeewa, Asela S; Abeyratne, Udantha R; Hukins, Craig

    2011-01-01

    Snoring is the most common symptom of obstructive sleep apnea hypopnea syndrome (OSAHS), which is a serious disease with high community prevalence. The standard method of OSAHS diagnosis, known as polysomnography (PSG), is expensive and time consuming. There is evidence suggesting that snore-related sounds (SRS) carry sufficient information to diagnose OSAHS. In this paper we present a technique for diagnosing OSAHS based solely on snore sound analysis. The method comprises a logistic regression model fed with snore parameters derived from its features such as the pitch and total airway response (TAR) estimated using a higher order statistics (HOS)-based algorithm. Pitch represents a time domain characteristic of the airway vibrations and the TAR represents the acoustical changes brought about by the collapsing upper airways. The performance of the proposed method was evaluated using the technique of K-fold cross validation, on a clinical database consisting of overnight snoring sounds of 41 subjects. The method achieved 89.3% sensitivity with 92.3% specificity (the area under the ROC curve was 0.96). These results establish the feasibility of developing a snore-based OSAHS community-screening device, which does not require any contact measurements

  12. Melkersson-Rosenthals syndrom hos en ung mand

    DEFF Research Database (Denmark)

    Lauritzen, Elisabeth; Jørkov, Andreas P Schjellerup

    2017-01-01

    A 24-year-old man presented with orofacial swelling, peripheral facial palsy and fissured tongue. Apart from a previous episode of peripheral palsy, he had no history of illness. Biopsy of the lip, blood tests, magnetic resonance imaging of the head and lumbar puncture showed no pathology. He rec...

  13. Traumatisk distal humerus-epifysiolyse hos nyfødt

    DEFF Research Database (Denmark)

    Al-Aubaidi, Zaid; Nielsen, Keld Daubjerg

    2010-01-01

    Traumatic distal humerus epiphysiolysis (TDHE) is a rare injury in infants with an incidence of about 1:35,000 births. It is primarily a birth injury, but it is also seen in cases of battered child syndrome. Because of its rare occurrence and the diagnostic difficulties, the lesion may be overloo......Traumatic distal humerus epiphysiolysis (TDHE) is a rare injury in infants with an incidence of about 1:35,000 births. It is primarily a birth injury, but it is also seen in cases of battered child syndrome. Because of its rare occurrence and the diagnostic difficulties, the lesion may...

  14. Hvordan kan utfordringer føre til økt læring og utvikling hos fremtidige elite fotballspillere og elitesoldater?: et komparativt casestudie mellom Forsvarets Spesialkommando og en fotballklubb i eliteserien

    OpenAIRE

    Nilsen, Kim-André

    2015-01-01

    Masteroppgave - Norges idrettshøgskole, 2015 I dette prosjektet ønsket jeg å finne ut hvordan motgang og utfordringer kan føre til økt læring og utvikling hos fremtidige elitesoldater og fotballspillere på elitenivå. Dette er en komparativ casestudie mellom en fotballklubb i eliteserien og Forsvarets Spesialkommando (FSK). I denne beskrivende casestudien ble semi-strukturerte intervjuer og dokumentasjonsundersøkelser benyttet i datainnsamlingen. I forbindelse med rekrutterin...

  15. Høyintensiv aerob intervalltrening utført som ekstrembolk fører ikke til endringer i VO2max hos elitesyklister og ??riatleter

    OpenAIRE

    Pedersen, Frank-Gøran

    2014-01-01

    HENSIKT: Studien hadde til hensikt å undersøke virkningen av høyintensiv aerob intervalltrening (HAIT) på maksimalt oksygenopptak (VO2max) og tid på Time trial (TT) hos elitesyklister og triatleter. METODE: 11 forsøkspersoner, n=7 HAIT (31±9) og n=4 kontroll (27±11), VO2max HAIT 62.6±6.4, VO2max 65.6±5.7 gjennomførte denne studien. HAIT gjennomførte 14 intervalløkter (4x4 løpeintervaller på tredemølle, 3-5%stigning, 90-95% av Hfmax, 3 minutter aktiv hvile på ca. 70% av Hfmax) over ti dager,et...

  16. Betydningen af Lawsonia og PCV2 virus for daglig tilvækst hos slagtesvin

    DEFF Research Database (Denmark)

    Johansen, Markku; Nielsen, Mai Britt Friis; Dahl, Jan

    Resultaterne af denne undersøgelse viser at: - Grise med store mængder Lawsonia i gødningen (≥106/gram gødning) har større risiko (OR=5,2) for at være en langsomt voksende gris. - Grise med synlige tarmforandringer har større risiko (OR=13,2) for at være en langsomt voksende gris. - Grise med...... diarré har større risiko (OR=10,1) for at være en langsomt voksende gris. Derimod kunne der ikke påvises nogen sammenhæng mellem mængden af PCV2 virus, antistoffer mod PCV2 virus eller påvisning af PCV2 virus ved immunhistokemi i tarmlymfeknude og tilvæksten hos grise. Undersøgelsen er gennemført i 5...... virus og Lawsonia på DTU-Veterinærinstitutet. For hver gris blev den maksimalt målte værdi af Lawsonia og PCV2 virus mængde i gødning og antistoffer mod de to sygdomme brugt som forklarende variabel. Sammenhængen til hurtigt/langsomt voksende grise for de maksimalt målte værdier blev undersøgt ved...

  17. Secure data structures based on multi-party computation

    DEFF Research Database (Denmark)

    Toft, Tomas

    2011-01-01

    to be realized using MPC primitives, however, by focusing on a specific example -- a priority queue -- it is shown that it is possible to achieve much better results than the generic solutions can provide. Moreover, the techniques differ significantly from existing ORAM constructions. Indeed it has recently been...... shown that any information theoretically secure ORAM with n memory locations requires at least log n random bits per read/write to hide the access pattern. In contrast, the present construction achieves security with a completely deterministic access pattern....

  18. Sambandet mellan Theory of Mind, språkliga förmågor och exekutiva funktioner hos barn i treårsåldern

    OpenAIRE

    Nilsson, Anna; Sirén, Ellen

    2015-01-01

    Barns fem första levnadsår präglas av en omfattande utveckling av språkliga förmågor och exekutiva funktioner, vilka är färdigheter som visat sig ha en stor påverkan på hur barn utvecklar förståelse för sina egna och andras tankar, det vill säga deras Theory of Mind. En central aspekt inom forskning har varit att undersöka hur förmågorna samvarierar vid olika åldrar. Syftet i föreliggande studie var att undersöka sambandet mellan Theory of Mind, språkliga förmågor och exekutiva funktioner hos...

  19. Neuromuscular function in patients with Subacromial Impingement Syndrome and clinical assessment of scapular kinematics

    DEFF Research Database (Denmark)

    Larsen, Camilla Marie

    muskeldele.I det andet studie blev evnen til selektiv aktivering af de individuelle skapulære muskeldele undersøgt hos 15patienter med SIS under en session med og uden visuel biofeedback, sammenlignet med denne evne hos 15raske kontroller. Med udgangspunkt i præ-definerede kriterier for selektiv aktivering...... kontrolpersonerne opnåede selektiv aktiveringaf individuelle skapulære muskeldele, når de ikke modtog visuel biofeedback af muskelaktiviteten af deenkelte muskeldele.I det tredje studie blev der udarbejdet et systematisk review af alle tilgængelige kliniske målemetoder tilvurdering af skapulas position og bevægelse...... den neuromuskulære aktivitet blandt SIS patienter ograske kontrolpersoner ikke fundet. Derimod viste undersøgelsen af den neuromuskulære funktion med og udenbrug af visuel biofeedback, at uden brug af biofeedback havde kontrolgruppen en bedre kontrol af deskapulære muskler. Dog præsterede SIS...

  20. Mosses in Ohio wetlands respond to indices of disturbance and vascular plant integrity

    Science.gov (United States)

    Stapanian, Martin A.; Schumacher, William; Gara, Brian; Viau, Nick

    2016-01-01

    We examined the relationships between an index of wetland habitat quality and disturbance (ORAM score) and an index of vascular plant integrity (VIBI-FQ score) with moss species richness and a moss quality assessment index (MQAI) in 45 wetlands in three vegetation types in Ohio, USA. Species richness of mosses and MQAI were positively associated with ORAM and VIBI-FQ scores. VIBI-FQ score was a better predictor of both moss species richness and MQAI than was either ORAM score or vegetation type. This result was consistent with the strict microhabitat requirements for many moss species, which may be better assessed by VIBI-FQ than ORAM. Probability curves as a function of VIBI-FQ score were then generated for presence of groups of moss species having the same degree of fidelity to substrate and plant communities relative to other species in the moss flora (coefficients of conservatism, CCs). Species having an intermediate- or high degree of fidelity to substrate and plant communities (i.e., species with CC ≥ 5) had a 50% probability of presence (P50) and 90% probability of presence (P90) in wetlands with intermediate- and high VIBI-FQ scores, respectively. Although moss species richness, probability of presence of species based on CC, and MQAI may reflect wetland habitat quality, the 95% confidence intervals around P50 and P90 values may be too wide for regulatory use. Moss species richness, MQAI, and presence of groups of mosses may be more useful for evaluating moss habitat quality in wetlands than a set of “indicator species.”

  1. Dömda att leva i skuggan : En kvalitativ intervjustudie om hälsan hos personer med albinism i Rwanda, utifrån begreppen diskriminering, coping och socialt stöd

    OpenAIRE

    Niyonkuru, Elsie Diane

    2016-01-01

    Bakgrund: Oculocutaneous albinism (OCA) är en ärftlig sjukdom som fysiskt, psykiskt och socialt påverkar de drabbade individerna. Okunskap, fördomar och myter om albinism utgör de största orsakerna till den diskriminering som personer med albinism utsatts för särskilt i vissa länder i Afrika söder om Sahara. Syfte: Syftet är att beskriva hälsan hos personer med albinism i Rwanda, utifrån begreppen diskriminering, coping och socialt stöd. Metod: En kvalitativ metod med induktiv ansats ligger t...

  2. Cannabinoid hyperemesissyndrom som årsag til langvarig kvalme og opkastning hos cannabismisbrugere

    DEFF Research Database (Denmark)

    Vindsand Naver, Astrid; Theede, Klaus

    2015-01-01

    Cannabinoid hyperemesis syndrome causing prolonged nausea and vomiting in patients with cannabis abuse Cannabis is one of the most used drugs worldwide. The link between repeated episodes of nausea, vomiting, and cannabis abuse is often missed in patients with prolonged cannabis abuse and is named...... cannabinoid hyperemesis syndrome. Characteristically, the symptoms appear in a cyclical pattern and are relieved by long, hot baths. Physical examination, radiology and endoscopy are often normal. The symptoms resolve with cessation of cannabis abuse. Health professionals must be aware of this syndrome...... in order to detect the patients early and to avoid extensive medical workup....

  3. Identitetshantering på Facebook : En kvalitativ studie om förhållningssättet till den egna identiteten hos två olika åldersgrupper på vår tids mest offentliga scen

    OpenAIRE

    Kåge, Isabelle

    2010-01-01

    Title: Identity management on Facebook: a qualitative study in approaches to personal identity between two different age groups on the most public stage of our time (Identitetshantering på Facebook: En kvalitativ studie om förhållningssättet till den egna identiteten hos två olika åldersgrupper på vår tids mest offentliga scen). Number of pages: 43. Author: Isabelle Kåge. Tutor: Amelie Hössjer. Course: Media and Communication Studies C. Period: Fall Semester 2010. University: Division of Medi...

  4. Clarté des idées innées ?

    DEFF Research Database (Denmark)

    Schøsler, Jørn

    2013-01-01

    Der gives en analyse af begreberne 'evidens' og 'medfødte idéer' hos Descartes og Locke samt hos de franske oplysningsfilosoffer.......Der gives en analyse af begreberne 'evidens' og 'medfødte idéer' hos Descartes og Locke samt hos de franske oplysningsfilosoffer....

  5. Velfærdsteknologi og sygepleje

    DEFF Research Database (Denmark)

    Danbjørg, Dorthe Boe; Thygesen, Marianne Kirstine; Skjøth, Mette Maria

    gravide kvinder om undersøgelserne for Downs syndrom, så et informeret valg kan træffes. Her anvendes en web-løsning med informationer om undersøgelserne for Downs syndrom. Der anvendes tekst, video og grafik for at synliggøre budskabet. Et andet projekt retter sig mod at sikre tryghed hos kvinder, der...... skal udskrives ambulant efter fødsel. I dette projekt er der udviklet en app, som indeholder en vidensbase med informationsmateriale samt en online chat, hvor familierne kan kommunikere med sundhedspersonale. Et tredje projekt har haft fokus på information til kræftpatienter i en ventetid til operation...

  6. Perceptions About the Present and Future of Surgical Simulation: A National Study of Mixed Qualitative and Quantitative Methodology.

    Science.gov (United States)

    Yiasemidou, Marina; Glassman, Daniel; Tomlinson, James; Song, David; Gough, Michael J

    Assess expert opinion on the current and future role of simulation in surgical education. Expert opinion was sought through an externally validated questionnaire that was disseminated electronically. Heads of Schools of Surgery (HoS) (and deputies) and Training Program Directors (TPD) (and deputies). Simulation was considered a good training tool (HoS: 15/15, TPD: 21/21). The concept that simulation is useful mostly to novices and for basic skills acquisition was rejected (HoS: 15/15, TPDs: 21/21; HoS: 13/15, TPDs: 18/21). Further, simulation is considered suitable for teaching nontechnical skills (HoS: 13/15, TPDs: 20/21) and re-enacting stressful situations (HoS: 14/15, TPDs: 15/21). Most respondents also felt that education centers should be formally accredited (HoS: 12/15, TPDs: 16/21) and that consultant mentors should be appointed by every trust (HoS: 12/15, TPDs: 19/21). In contrast, there were mixed views on its use for trainee assessment (HoS: 6/15, TPDs: 14/21) and whether it should be compulsory (HoS: 8/15, TPDs: 11/21). The use of simulation for the acquirement of both technical and nontechnical skills is strongly supported while views on other applications (e.g., assessment) are conflicting. Further, the need for center accreditation and supervised, consultant-led teaching is highlighted. Copyright © 2016 Association of Program Directors in Surgery. Published by Elsevier Inc. All rights reserved.

  7. Shutdown risk management applied at Philadelphia Electric Company

    International Nuclear Information System (INIS)

    Dagan, William J.; True, Douglas E.; Wilson, Thomas; Truax, William

    2004-01-01

    The development and implementation of an effective risk management program requires basic risk or safety knowledge and the conversion of such information into effective management tools. ERIN Engineering and Research, Inc., under contract to the Electric Power Research Institute, has developed an effective program. Outage Risk Assessment and Management (ORAM), to provide plant and management personnel with understandable results of shutdown risk studies. With this tool, the impact of plans and decision options can be readily determined and displayed for the decision maker. This paper describes these methods and their application to the Limerick Nuclear Station of Philadelphia Electric Company. It also sets forth a broader application of these methods to include support of management decisions at-power and following forced outages. The result is an integrated risk management framework which can allow management and technical personnel to utilize readily available and understandable risk insights to optimize each activity. This paper addresses the resolution of several key issues in detail: How was the ORAM risk management method employed to represent the existing plant shutdown procedures and policies? How did the ORAM risk management method enhance the decision-making ability of the outage management staff? How was the ORAM software efficiently integrated with the outage scheduling software? How is quantitative risk information generated and used for outage planning and control? The ORAM risk management philosophy utilizes a series of colors to depict various risk configurations. Each such configuration has associated with it clear guidance. By modifying the conditions existing in the plant it is possible to impact the type of risk being encountered as well as the guidance which is appropriate for that period. In addition, the duration of a particular configuration can be effectively managed to reduce the overall risk impact. These are achieved with minimal

  8. Tåtourniquetsyndrom hos barn på tre måneder

    DEFF Research Database (Denmark)

    Monrad, Rikke Nygaard; Rytter, Søren

    2011-01-01

    Toe tourniquet syndrome is a rare condition in which a hair or thread becomes tightly wrapped around an appendage, which causes ischaemic strangulation. We present a three month-old infant with strangulation of one toe to direct attention to this condition. Prompt recognition and complete removal...

  9. Potential use of hyperoxygenated solution as a treatment strategy for carbon monoxide poisoning.

    Directory of Open Access Journals (Sweden)

    Xingxing Sun

    Full Text Available AIM: Carbon monoxide (CO poisoning can cause permanent damage in tissues that are sensitive to hypoxia. We explored the feasibility and efficacy of using a hyperoxygenated solution (HOS to treat severe acute CO poisoning in an animal model. METHODS: Male Sprague-Dawley rats were subjected to CO poisoning. The HOS was administered into the femoral vein of these rats through a catheter (10 ml/kg. Carboxyhemoglobin (COHb and blood gases were used to assess the early damage caused by CO poisoning. S100β was measured to predict the development of late cognitive sequelae of CO. The Morris water maze test was performed to assess cognitive function, and Nissl staining was performed to observe histologic change. RESULTS: The COHb concentrations rapidly decreased at 5 min after the HOS administration; however, the PaO2 and SaO2 in rats treated with HOS increased significantly 5 min after the HOS administration. The S100β concentrations, which increased significantly after CO poisoning, increased at a much slower rate in the rats treated with HOS (HOS group compared with the rats treated with O2 inhalation (O2 group. The escape latency in the place navigation test was shortened after CO poisoning on days 11-15 and days 26-30, and the swimming time in quadrant 4 in the spatial probe test on days 15 and 30 after CO poisoning was prolonged in the rats treated with HOS injection compared with the rats treated with oxygen inhalation or normal saline injection. The neuronal degeneration in the HOS group was alleviated than that in the CO or O2 group. CONCLUSION: HOS efficiently alleviates the brain damage in acute CO-poisoned rats and thus may serve as a new way to treat human patients with CO poisoning in clinical practice.

  10. History of science content analysis of Chinese science textbooks from the perspective of acculturation

    Science.gov (United States)

    Ma, Yongjun; Wan, Yanlan

    2017-08-01

    Based on previous international studies, a content analysis scheme has been designed and used from the perspective of culture to study the history of science (HOS) in science textbooks. Nineteen sets of Chinese science textbooks have been analyzed. It has been found that there are noticeable changes in the quantity, content, layout, presentation, and writing intention of the HOS sections in textbooks from different time periods. What's more, the textbooks aim at presenting the scientific culture and aim to help students understand it better. However, the cultural associations of the HOS in textbooks is insufficient and significant differences exist among textbooks of different subjects. In order to explore the reasons why the presentation of HOS in various subjects is different, we made a specific comparison of curriculum standards of two subjects with great differences and interviewed the editors-in-chief of two textbooks. Results show that one of the most important reasons for the different writings of the HOS in textbooks is that different subject curriculum standards attach greater importance to the HOS. In addition, the attention to the HOS by editors-in-chief, the tradition of studying the HOS within the history of the discipline, and the reference textbooks in compiling textbooks are all important influence factors. Some suggestions for future textbooks compilation are given at the end.

  11. A simulation based approach to optimize inventory replenishment with RAND algorithm: An extended study of corrected demand using Holt's method for textile industry

    Science.gov (United States)

    Morshed, Mohammad Sarwar; Kamal, Mostafa Mashnoon; Khan, Somaiya Islam

    2016-07-01

    Inventory has been a major concern in supply chain and numerous researches have been done lately on inventory control which brought forth a number of methods that efficiently manage inventory and related overheads by reducing cost of replenishment. This research is aimed towards providing a better replenishment policy in case of multi-product, single supplier situations for chemical raw materials of textile industries in Bangladesh. It is assumed that industries currently pursue individual replenishment system. The purpose is to find out the optimum ideal cycle time and individual replenishment cycle time of each product for replenishment that will cause lowest annual holding and ordering cost, and also find the optimum ordering quantity. In this paper indirect grouping strategy has been used. It is suggested that indirect grouping Strategy outperforms direct grouping strategy when major cost is high. An algorithm by Kaspi and Rosenblatt (1991) called RAND is exercised for its simplicity and ease of application. RAND provides an ideal cycle time (T) for replenishment and integer multiplier (ki) for individual items. Thus the replenishment cycle time for each product is found as T×ki. Firstly, based on data, a comparison between currently prevailing (individual) process and RAND is provided that uses the actual demands which presents 49% improvement in total cost of replenishment. Secondly, discrepancies in demand is corrected by using Holt's method. However, demands can only be forecasted one or two months into the future because of the demand pattern of the industry under consideration. Evidently, application of RAND with corrected demand display even greater improvement. The results of this study demonstrates that cost of replenishment can be significantly reduced by applying RAND algorithm and exponential smoothing models.

  12. Ny Mycoplasma Hyosynoviae vaccine forebygger ikke halthed

    DEFF Research Database (Denmark)

    Nielsen, Elisabeth Okholm; Lauritsen, Klara Tølbøll; Jungersen, Gregers

    Vaccination af smågrise mod Mykoplasma-ledbetændelser viste sig ikke at kunne forebyggede halthed hos slagtesvin. Smitte med Mycoplasma hyosynoviae (M. hyosynoviae) er ofte årsag til ledbetændelse hos slagtesvin. Der er ingen kommerciel vaccine til grise, der beskytter mod mykoplasma-ledbetændels......Vaccination af smågrise mod Mykoplasma-ledbetændelser viste sig ikke at kunne forebyggede halthed hos slagtesvin. Smitte med Mycoplasma hyosynoviae (M. hyosynoviae) er ofte årsag til ledbetændelse hos slagtesvin. Der er ingen kommerciel vaccine til grise, der beskytter mod mykoplasma...

  13. Should We Add History of Science to Provide Nature of Science into Vietnamese Biology Textbook: A Case of Evolution and Genetics Teaching?

    Science.gov (United States)

    Diem, Huynh Thi Thuy; Yuenyong, Chokchai

    2018-01-01

    History of science (HOS) plays a substantial role in the enhancement of rooted understanding in science teaching and learning. HOS of evolution and genetics has not been included in Vietnamese biology textbooks. This study aims to investigate the necessity of introducing evolution and genetics HOS into Vietnamese textbooks. A case study approach…

  14. Hip Arthroscopy Outcomes With Respect to Patient Acceptable Symptomatic State and Minimal Clinically Important Difference.

    Science.gov (United States)

    Levy, David M; Kuhns, Benjamin D; Chahal, Jaskarndip; Philippon, Marc J; Kelly, Bryan T; Nho, Shane J

    2016-09-01

    To determine whether the hip arthroscopy literature to date has shown outcomes consistent with published patient acceptable symptomatic state (PASS) and minimal clinically important difference (MCID) estimates. All clinical investigations of hip arthroscopy using modified Harris Hip Score (mHHS) and/or Hip Outcome Score (HOS) outcomes with at least 1 year of follow-up were reviewed. Ninety-one studies (9,746 hips) were included for review. Eighty-one studies (9,317 hips) contained only primary hip arthroscopies and were the primary focus of this review. The remaining studies (429 hips) did not exclude patients with prior surgical history and were thus considered separately. Mean mHHS, HOS-ADL (Activities of Daily Living) and HOS-SS (Sports-Specific) scores were compared with previously published PASS and MCID values. After 31 ± 20 months, 5.8% of study populations required revision arthroscopy and 5.5% total hip arthroplasty. A total of 88%, 25%, and 30% of study populations met PASS for mHHS, HOS-ADL, and HOS-SS, respectively, and 97%, 90%, and 93% met MCID. On bivariate analysis, increasing age was associated with significantly worse postoperative mHHS (P arthroscopy, we have found that more than 90% of study populations meet MCID standards for the most commonly used patient-reported outcomes measures in hip arthroscopy literature, mHHS and HOS. Eighty-eight percent meet PASS standards for the mHHS, but PASS standards are far more difficult to achieve for HOS-ADL (25%) and HOS-SS (30%) subscales. Differences in psychometric properties of the mHHS and HOS likely account for the discrepancies in PASS. Level IV, systematic review of Level I to IV studies. Copyright © 2016 Arthroscopy Association of North America. Published by Elsevier Inc. All rights reserved.

  15. Moss and vascular plant indices in Ohio wetlands have similar environmental predictors

    Science.gov (United States)

    Stapanian, Martin A.; Schumacher, William; Gara, Brian; Adams, Jean V.; Viau, Nick

    2016-01-01

    Mosses and vascular plants have been shown to be reliable indicators of wetland habitat delineation and environmental quality. Knowledge of the best ecological predictors of the quality of wetland moss and vascular plant communities may determine if similar management practices would simultaneously enhance both populations. We used Akaike's Information Criterion to identify models predicting a moss quality assessment index (MQAI) and a vascular plant index of biological integrity based on floristic quality (VIBI-FQ) from 27 emergent and 13 forested wetlands in Ohio, USA. The set of predictors included the six metrics from a wetlands disturbance index (ORAM) and two landscape development intensity indices (LDIs). The best single predictor of MQAI and one of the predictors of VIBI-FQ was an ORAM metric that assesses habitat alteration and disturbance within the wetland, such as mowing, grazing, and agricultural practices. However, the best single predictor of VIBI-FQ was an ORAM metric that assessed wetland vascular plant communities, interspersion, and microtopography. LDIs better predicted MQAI than VIBI-FQ, suggesting that mosses may either respond more rapidly to, or recover more slowly from, anthropogenic disturbance in the surrounding landscape than vascular plants. These results supported previous predictive studies on amphibian indices and metrics and a separate vegetation index, indicating that similar wetland management practices may result in qualitatively the same ecological response for three vastly different wetland biological communities (amphibians, vascular plants, and mosses).

  16. Hospitalization is less in malnourished patients given intradialytic oral nutritional supplements

    Directory of Open Access Journals (Sweden)

    Eduardo Lacson Jr.

    2012-06-01

    Overall, HOS was lower in the ONS group (N= 7,264 at 2.5 vs. 2.7 episodes/pt‐year for controls (N= 13,853, p<0.001. The unadjusted time to 1st HOS hazard ratio for ONS was 0.92 (0.88, 0.95 and after adjustment for baseline case‐mix, HOS 30‐days prior to study entry, and 5 HD quality indicators was 0.93 (0.90, 0.96. Although limited by the observational design, these results indicate lower HOS associated with ONS use in malnourished chronic HD patients with albumin ≤3.5 g/dL.

  17. The Medicare Health Outcomes Survey program: Overview, context, and near-term prospects

    Directory of Open Access Journals (Sweden)

    Miller Nancy A

    2004-07-01

    Full Text Available Abstract In 1996, the Centers for Medicare & Medicaid Services (CMS initiated the development of the Medicare Health Outcomes Survey (HOS. It is the first national survey to measure the quality of life and functional health status of Medicare beneficiaries enrolled in managed care. The program seeks to gather valid and reliable health status data in Medicare managed care for use in quality improvement activities, public reporting, plan accountability and improving health outcomes based on competition. The context that led to the development of the HOS was formed by the convergence of the following factors: 1 a recognized need to monitor the performance of managed care plans, 2 technical expertise and advancement in the areas of quality measurement and health outcomes assessment, 3 the existence of a tested functional health status assessment tool (SF-36®1, which was valid for an elderly population, 4 CMS leadership, and 5 political interest in quality improvement. Since 1998, there have been six baseline surveys and four follow up surveys. CMS, working with its partners, performs the following tasks as part of the HOS program: 1 Supports the technical/scientific development of the HOS measure, 2 Certifies survey vendors, 3 Collects Health Plan Employer Data and Information Set(HEDIS®2 HOS data, 4 Cleans, scores, and disseminates annual rounds of HOS data, public use files and reports to CMS, Quality Improvement Organizations (QIOs, Medicare+Choice Organizations (M+COs, and other stakeholders, 5 Trains M+COs and QIOs in the use of functional status measures and best practices for improving care, 6 Provides technical assistance to CMS, QIOs, M+COs and other data users, and 7 Conducts analyses using HOS data to support CMS and HHS priorities. CMS has recently sponsored an evaluation of the HOS program, which will provide the information necessary to enhance the future administration of the program. Information collected to date reveals that the

  18. Understanding Bartter syndrome and Gitelman syndrome.

    Science.gov (United States)

    Fremont, Oliver T; Chan, James C M

    2012-02-01

    We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

  19. Ohio Uses Wetlands Program Development Grants to Protect Wetlands

    Science.gov (United States)

    The wetland water quality standards require the use of ORAM score to determine wetland quality. OEPA has also used these tools to evaluate wetland mitigation projects, develop performance standards for wetland mitigation banks and In Lieu Fee programs an.

  20. Tredjegradsatrioventrikulært blok hos en ung kvinde med kongenit centralt hypoventilationssyndrom

    DEFF Research Database (Denmark)

    Hagelberg, Rikke; Dixen, Ulrik

    2015-01-01

    Congenital central hypoventilation syndrome (CCHS) is a rare multisystem disorder characterized by autonomic nervous system dysfunction, which often manifests as failure to maintain ventilatory homeostasis during sleep. We present a case with a third degree atrioventricular block in a young woman...

  1. Psychometric Evaluation of the Lower Extremity Computerized Adaptive Test, the Modified Harris Hip Score, and the Hip Outcome Score.

    Science.gov (United States)

    Hung, Man; Hon, Shirley D; Cheng, Christine; Franklin, Jeremy D; Aoki, Stephen K; Anderson, Mike B; Kapron, Ashley L; Peters, Christopher L; Pelt, Christopher E

    2014-12-01

    The applicability and validity of many patient-reported outcome measures in the high-functioning population are not well understood. To compare the psychometric properties of the modified Harris Hip Score (mHHS), the Hip Outcome Score activities of daily living subscale (HOS-ADL) and sports (HOS-sports), and the Lower Extremity Computerized Adaptive Test (LE CAT). The hypotheses was that all instruments would perform well but that the LE CAT would show superiority psychometrically because a combination of CAT and a large item bank allows for a high degree of measurement precision. Cohort study (diagnosis); Level of evidence, 2. Data were collected from 472 advanced-age, active participants from the Huntsman World Senior Games in 2012. Validity evidences were examined through item fit, dimensionality, monotonicity, local independence, differential item functioning, person raw score to measure correlation, and instrument coverage (ie, ceiling and floor effects), and reliability evidences were examined through Cronbach alpha and person separation index. All instruments demonstrated good item fit, unidimensionality, monotonicity, local independence, and person raw score to measure correlations. The HOS-ADL had high ceiling effects of 36.02%, and the mHHS had ceiling effects of 27.54%. The LE CAT had ceiling effects of 8.47%, and the HOS-sports had no ceiling effects. None of the instruments had any floor effects. The mHHS had a very low Cronbach alpha of 0.41 and an extremely low person separation index of 0.08. Reliabilities for the LE CAT were excellent and for the HOS-ADL and HOS-sports were good. The LE CAT showed better psychometric properties overall than the HOS-ADL, HOS-sports, and mHHS for the senior population. The mHHS demonstrated pronounced ceiling effects and poor reliabilities that should be of concern. The high ceiling effects for the HOS-ADL were also of concern. The LE CAT was superior in all psychometric aspects examined in this study. Future

  2. [Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

    Science.gov (United States)

    Berio, A; Trucchi, R; Meliota, M

    1992-05-01

    The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

  3. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  4. Elaphostrongylus spp. from Scandinavian cervidae - a scanning electron microscope study (SEM

    Directory of Open Access Journals (Sweden)

    Margareta Stéen

    1990-08-01

    Full Text Available Nematodes of the genus Elaphostrongylus collected from moose (Alces alces L., reindeer (Rangifer tarandus tarandus L., and red deer (Cervus elaphus L., respectively, were studied by means of scanning electron microscopy. Morphological differences in the ribs of the genital bursa were demonstrated. The Elaphostrongylus species from reindeer and red deer differed from each other in four ribs of the genital bursa. These results agree with the morphological characters of E. cervi and E. rangiferi described by Cameron (1931 and Mitskevitch (1960. The genital bursa of Elaphostrongylus sp. from moose, in accordance with the description of E. alces by Steen et al. (1989 showed characteristics differing from those found in Elaphostrongylus spp. from reindeer and red deer respectively. These results support the hypothesis that there are three separate species of Elaphostrongylus present in Scandinavian Cervidae. Svep-elektroniska studier på Elaphostrongylus spp. hos skandinaviska hjortdjur.Abstract in Swedish / Sammandrag: Rundmaskar inom slaktet Elaphostrongylus funna hos alg (Alces alces L., ren (Rangifer tarandus tarandus L. och kronhjort(Cervus elaphus L. studerades med hjalp av svepelelektronmikroskop. De hanliga bursorna med sin a stodjeribbor uppvisade variationer i utseende, langd och placering mellan dessa rundmaskar. De arter av Elaphostrongylus funna hos ren och kronhjort skilde sig åt avseende fyra stodjeribbor på de hanliga bursorna. Dessa resultat stammer val overens med de karaktarer som tidigare ar beskrivna av Cameron(1931 och av Mitskevich (1960. Den hanliga bursan hos arten Elaphostrongylus funnen hos alg, vilken tidigare ar beskriven av Steen et al. (1989, visade upp ett utseende som skilde sig från bursorna hos de Elaphostrongylus-arter funna hos ren och kronhjort. Dessa resultat stoder hypotesen om tre skilda arter av Elaphostrongylus hos skandinaviska hjortdjur.

  5. Fremtidens Kunstmuseum. En museologisk undersøgelse

    DEFF Research Database (Denmark)

    Tøndborg, Britta; Christian, Gether,; Stine, Høholt,

    2010-01-01

    Christian Gether, Britta Tøndborg, Sattrup, Helveg, Marie Laurberg, Høholt, Papsøe Weber. ARKEN Museum for ModerneKunst, 2010.......Christian Gether, Britta Tøndborg, Sattrup, Helveg, Marie Laurberg, Høholt, Papsøe Weber. ARKEN Museum for ModerneKunst, 2010....

  6. Cerebral blood flow autoregulation in patients with acute bacterial meningitis

    DEFF Research Database (Denmark)

    Møller, Kirsten

    2001-01-01

    Ph.d. afhandlingen omhandler sammenhængen mellem hjernens blodtilførsel (CBF) og middelarterietrykket (MAP) hos patienter med akut bakteriel meningitis. Hos raske er CBF uafhængig af MAP, hvilket kaldes CBF autoregulation. Svækket autoregulation antages at øge risikoen for cerebral hypoperfusion og...... iskæmi under episoder med lavt MAP, og for cerebral hyperperfusion og vasogent ødem ved højt MAP. CBF autoregulationen undersøgtes hos tyve voksne patienter med akut bakteriel meningitis i den tidlige sygdomsfase (... meningitis, men retableres ved klinisk restitution. Autoregulationen kan endvidere delvis retableres ved akut hyperventilation. Fundene har potentiel betydning for valg af supportiv terapi hos patienter med meningitis....

  7. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    Science.gov (United States)

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

  8. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    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 ......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...

  9. Enterpreneurship/Small Business Degree Programs at Community Colleges

    Science.gov (United States)

    Maidment, Fred

    2007-01-01

    Associate degree programs at community colleges in small business/entrepreneurship were examined in this article. The study examined the community college programs in entrepreneurship and small business related, small business administration and entrepreneurship listed in "Perterson's Guide to Two-Year Colleges" (Oram, 2005). Current catalogs…

  10. The 17-d periodicity of Cygnus X-3; and Reply

    International Nuclear Information System (INIS)

    Owens, A.J.; Holt, S.S.

    1977-01-01

    Some comments are offered on the communication by Holt and others (Nature; 260:592 (1976)) reporting a possible 16.75 day periodicity in the flux of Cygnus X-3. The present author states that he has subjected Holt's data to digitisation and power spectrum analysis, with the results shown, and states that there is about a 50% likelihood of the existence of a 16.75 day periodicity. This periodicity, if real, would account for about 10% of the fluctuations and have an r.m.s. amplitude of about 4% of the total flux. A reply by Holt is appended. (U.K.)

  11. How Do We Measure Success in Homelessness Services? : Critically Assessing the Rise of the Homelessness Outcomes Star

    OpenAIRE

    Johnson, Guy; Pleace, Nicholas

    2016-01-01

    The Homelessness Outcomes Star (HOS) is probably the most widespread form of outcome measurement employed by homelessness service providers. Developed in the UK, the HOS is now being used by homelessness services in other European countries and Australia, while being promoted internationally as a validated set of key performance indicators. This paper examines the ideological framework that underpins the HOS, as well as the theoretical and methodological approaches that inform its operation. ...

  12. Seckel syndrome: an overdiagnosed syndrome.

    OpenAIRE

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

  13. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

    Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

    2009-01-01

    We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

  14. Beals Syndrome

    Science.gov (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  15. EFEKTIFITAS HARD DAN SOFT OCCLUSAL SPLINT PADA GANGGUAN SENDI TEMPOROMANDIBULA (Kajian klinis pada seri kasus berdasarkan keluhan nyeri sendi temporomandibula

    Directory of Open Access Journals (Sweden)

    R.A Donna Pratiwi

    2015-08-01

    Full Text Available Occlusal splint is commonly used for treatment of the temporomandibular joint disorder (TMD. It can be made of hard and soft material. Hard occlusal splint (HOS which was known earlier had been recognized more effective than soft occlusal splint (SOS which recently gained some popularity. This clinical study based on case series was to determined which type of occlusal splint was more effective for TMD. This study involved 20 subjects and they were divided into HOS and SOS group with 10 subjects in each group. HOS was processed with heat curing acrylic and SOS with vacuum former. Before and after 4 weeks of treatment, 5 TMD symptoms (impaired range of movement, impaired TMJ function, muscle pain, TMJ pain and pain on movement of mandible were measured using Helkimo diagnostic index. The results were analyzed with Kolmogorov-Smirnov Z's test. The findings showed statistically significant improvement in impaired range of movement and muscle pain in favor of HOS group (p<0.05. Although they were not statistically significant, HOS group showed better improvement than SOS group in TMJ pain and pain on movement of the mandible. In TMJ's function, no changes were found in both groups. IN general, HOS was more effective than SOS for treating TMD in relatively short period of time. Despite of the phenomena, the popularity of SOS was not followed with its effectiveness.

  16. What motivates young physicians? - a qualitative analysis of the learning climate in specialist medical training.

    Science.gov (United States)

    Iblher, Peter; Hofmann, Marzellus; Zupanic, Michaela; Breuer, Georg

    2015-10-15

    Not least the much-invoked shortage of physicians in the current and the next generation has resulted in a wide range of efforts to improve postgraduate medical training. This is also in the focus of the current healthcare policy debate. Furthermore, quality and scope of available postgraduate training are important locational advantages in the competition for medical doctors. This study investigates the preferences and concerns that German house officers (HOs) have about their current postgraduate training. It also highlights how HOs evaluate the quality of their current postgraduate training and the learning environment. HOs were asked to answer the question: "Which things are of capital importance to you personally in your medical training?", using a free text format. The survey was conducted web based (Lime survey) and all data was anonymized. Summarizing qualitative analyses were performed using the software tool MaxQDA. A total of 255 HOs participated in this study (female: n = 129/50.6 %; male: n = 126/49.4 %; age: 32 + 6 years) associated with 17 different German hospitals and from four medical specialties. Ten categories were generated from a total of 366 free text answers: 1. methodology of learning (n = 66), 2. supervision (n = 66), 3. learning structure (n = 61), 4. teaching competence (n = 37), 5. dedication (n = 34), 6. work climate (n = 29), 7. feedback/communication (n = 22), 8. challenge/patient safety (n = 21), 9. time/resources (n = 17), 10. personal security/safety (n = 13). HOs want a reliable and curriculum-guided learning structure. Different studying techniques should be used with sufficient (time) resources available in a trusting and communicative learning environment. Competent and dedicated instructors are expected to give individual and specific feedback to the HOs on individual strengths and deficits. Instructors should develop educational concepts in cooperation with the HOs and

  17. Självkänsla hos daghemsbarn : En kvalitativ undersökning om hur barnträdgårdslärare bekräftar och stärker barnets självkänsla på daghem

    OpenAIRE

    Fant, Sofia

    2017-01-01

    Syftet med detta examensarbete är att ta reda på hur en barnträdgårdslärare kan stärka och bekräfta barnets självkänsla på daghem. Vilken syn och uppfattning finns det om självkänslan på daghem och hur kan man stödja barnen på bästa sätt när det gäller självkänslan? I detta examensarbete har jag genom litteratur tagit fram vad självkänsla är, men även olika definitioner kring självkänslan och hur miljön runt om kan påverka självkänslan hos barnet. I intervjuerna som blev gjorda framkom ...

  18. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  19. [Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

    Science.gov (United States)

    Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

    2009-02-01

    Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

  20. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  1. Wells syndrome and its relationship to Churg-Strauss syndrome.

    Science.gov (United States)

    Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

    2013-08-01

      Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

  2. Undervisertip: Giv tid!

    DEFF Research Database (Denmark)

    Jakobsen, Uffe Lindberg Wewer

    2017-01-01

    Blogindlæg på LinkedIn om fordelene ved at øge refleksionstiden hos studerende i klasserumsundervisning.......Blogindlæg på LinkedIn om fordelene ved at øge refleksionstiden hos studerende i klasserumsundervisning....

  3. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  4. Mammary remodelling and metabolic activity in dairy goats:role of parity, dry period and nutrient supply

    OpenAIRE

    Safayi, Sina

    2009-01-01

    Mælkeproduktionen er generelt lav, men det er set at laktation persistensen er højere hos primiparous (PP) end hos multiparous (MP) drøvtyggere. Dette kan være relateret til forskelle i udvikling og opretholdelse af mælkekirtlernes funktion i yveret, dog er de underliggende mekanismer for dette er ikke klarlagt. Endvidere er mælkeproduktionen hos MP drøvtyggere ikke kun bestemt af dyrets genetiske ydeevne, men også af management strategier for varigheden af goldperioden og perioden omkring ny...

  5. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  6. A KH-Domain RNA-Binding Protein Interacts with FIERY2/CTD Phosphatase-Like 1 and Splicing Factors and Is Important for Pre-mRNA Splicing in Arabidopsis

    KAUST Repository

    Chen, Tao; Cui, Peng; Chen, Hao; Ali, Shahjahan; Zhang, ShouDong; Xiong, Liming

    2013-01-01

    Eukaryotic genomes encode hundreds of RNA-binding proteins, yet the functions of most of these proteins are unknown. In a genetic study of stress signal transduction in Arabidopsis, we identified a K homology (KH)-domain RNA-binding protein, HOS5 (High Osmotic Stress Gene Expression 5), as required for stress gene regulation and stress tolerance. HOS5 was found to interact with FIERY2/RNA polymerase II (RNAP II) carboxyl terminal domain (CTD) phosphatase-like 1 (FRY2/CPL1) both in vitro and in vivo. This interaction is mediated by the first double-stranded RNA-binding domain of FRY2/CPL1 and the KH domains of HOS5. Interestingly, both HOS5 and FRY2/CPL1 also interact with two novel serine-arginine (SR)-rich splicing factors, RS40 and RS41, in nuclear speckles. Importantly, FRY2/CPL1 is required for the recruitment of HOS5. In fry2 mutants, HOS5 failed to be localized in nuclear speckles but was found mainly in the nucleoplasm. hos5 mutants were impaired in mRNA export and accumulated a significant amount of mRNA in the nuclei, particularly under salt stress conditions. Arabidopsis mutants of all these genes exhibit similar stress-sensitive phenotypes. RNA-seq analyses of these mutants detected significant intron retention in many stress-related genes under salt stress but not under normal conditions. Our study not only identified several novel regulators of pre-mRNA processing as important for plant stress response but also suggested that, in addition to RNAP II CTD that is a well-recognized platform for the recruitment of mRNA processing factors, FRY2/CPL1 may also recruit specific factors to regulate the co-transcriptional processing of certain transcripts to deal with environmental challenges. © 2013 Chen et al.

  7. A KH-Domain RNA-Binding Protein Interacts with FIERY2/CTD Phosphatase-Like 1 and Splicing Factors and Is Important for Pre-mRNA Splicing in Arabidopsis

    KAUST Repository

    Chen, Tao

    2013-10-17

    Eukaryotic genomes encode hundreds of RNA-binding proteins, yet the functions of most of these proteins are unknown. In a genetic study of stress signal transduction in Arabidopsis, we identified a K homology (KH)-domain RNA-binding protein, HOS5 (High Osmotic Stress Gene Expression 5), as required for stress gene regulation and stress tolerance. HOS5 was found to interact with FIERY2/RNA polymerase II (RNAP II) carboxyl terminal domain (CTD) phosphatase-like 1 (FRY2/CPL1) both in vitro and in vivo. This interaction is mediated by the first double-stranded RNA-binding domain of FRY2/CPL1 and the KH domains of HOS5. Interestingly, both HOS5 and FRY2/CPL1 also interact with two novel serine-arginine (SR)-rich splicing factors, RS40 and RS41, in nuclear speckles. Importantly, FRY2/CPL1 is required for the recruitment of HOS5. In fry2 mutants, HOS5 failed to be localized in nuclear speckles but was found mainly in the nucleoplasm. hos5 mutants were impaired in mRNA export and accumulated a significant amount of mRNA in the nuclei, particularly under salt stress conditions. Arabidopsis mutants of all these genes exhibit similar stress-sensitive phenotypes. RNA-seq analyses of these mutants detected significant intron retention in many stress-related genes under salt stress but not under normal conditions. Our study not only identified several novel regulators of pre-mRNA processing as important for plant stress response but also suggested that, in addition to RNAP II CTD that is a well-recognized platform for the recruitment of mRNA processing factors, FRY2/CPL1 may also recruit specific factors to regulate the co-transcriptional processing of certain transcripts to deal with environmental challenges. © 2013 Chen et al.

  8. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  9. Individuell variasjon i utskillelse av 6-sulfatoksymelatonin og døgnrytmetype analysert hos skiftarbeidere

    Directory of Open Access Journals (Sweden)

    Tore Tynes

    2009-10-01

    Full Text Available  SAMMENDRAGI denne studien har vi undersøkt om det finnes noen sammenheng mellom målte verdier av urinmetabolitten6-sulfatoxymelatonin (aMT6s tatt ut i porsjoner gjennom døgnet og selvrapportert døgnrytme hos engruppe norske skiftarbeidere. Studien omfatter 19 arbeidstakere ved to produksjonsenheter ved HydroPorsgrunn, magnesiumfabrikken og fullgjødselfabrikk 3. Etter å ha deltatt i en studie der urinprøver blesamlet inn, svarte de involverte senere på et spørreskjema om søvn og døgnrytme. Resultatene indikerer ategenrapporterte B-type mennesker har en tendens til høyere midlere timeutskillelse av aMT6s analysert pådøgnbasis første døgn med nattskift, og en signifikant høyere nattutskillelse (8 timer i et kontrolldøgnhjemme. I fremtidige studier av melatoninsekresjon og utskillelse av metabolitt i urin, kan det være avinteresse samtidig å samle inn spørreskjemabaserte opplysninger om døgnrytmetype og utfyllende opplysningerom søvn og søvnmønster i relasjon til eksponeringer som skiftarbeid og andre arbeidsmiljøfaktorersom kan ha effekt på hormonbalansen.Tynes T, Haugsdal B, Tønnessen A, Kleiven M. Individual variations in excretion of6-sulfatoxymelatonin in morning and evening type Norwegian shift workers.Nor J Epidemiol ENGLISH SUMMARYThe aim of this study was to evaluate whether there is an association between measured values of the urinemetabolite 6-sulfatoxymelatonin (aMT6s in samples collected at selected intervals and self-reported diurnalrhythm in a group of Norwegian shift workers. The study included 19 workers at two production unitsat Hydro Porsgrunn, the magnesium factory and fertiliser factory 3. After submitting the urine samplesused for the study, subjects filled in a questionnaire on sleep and diurnal rhythm at a later date. The resultsindicate that self-reported evening type subjects have a tendency towards a higher mean hourly aMT6ssecretionfirst day on night shift, and a significantly higher night

  10. Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

    Directory of Open Access Journals (Sweden)

    Tullu M

    2000-04-01

    Full Text Available Neurofibromatosis (NF, Noonan syndrome (NS, and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the ′Neurofibromatosis-Noonan syndrome′ (NF-NS. The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.

  11. Simultaneous ocular and muscle artifact removal from EEG data by exploiting diverse statistics.

    Science.gov (United States)

    Chen, Xun; Liu, Aiping; Chen, Qiang; Liu, Yu; Zou, Liang; McKeown, Martin J

    2017-09-01

    Electroencephalography (EEG) recordings are frequently contaminated by both ocular and muscle artifacts. These are normally dealt with separately, by employing blind source separation (BSS) techniques relying on either second-order or higher-order statistics (SOS & HOS respectively). When HOS-based methods are used, it is usually in the setting of assuming artifacts are statistically independent to the EEG. When SOS-based methods are used, it is assumed that artifacts have autocorrelation characteristics distinct from the EEG. In reality, ocular and muscle artifacts do not completely follow the assumptions of strict temporal independence to the EEG nor completely unique autocorrelation characteristics, suggesting that exploiting HOS or SOS alone may be insufficient to remove these artifacts. Here we employ a novel BSS technique, independent vector analysis (IVA), to jointly employ HOS and SOS simultaneously to remove ocular and muscle artifacts. Numerical simulations and application to real EEG recordings were used to explore the utility of the IVA approach. IVA was superior in isolating both ocular and muscle artifacts, especially for raw EEG data with low signal-to-noise ratio, and also integrated usually separate SOS and HOS steps into a single unified step. Copyright © 2017 Elsevier Ltd. All rights reserved.

  12. Correlation between hypoosmotic swelling test and breeding soundness evaluation of adult Nelore bulls

    Directory of Open Access Journals (Sweden)

    Tamires Miranda Neto

    2011-07-01

    Full Text Available This study aimed at evaluating the relationship between physical and morphological semen features with the hypoosmotic swelling (HOS test in raw semen of adult Nelore bulls classified as sound and unsound for breeding. Two hundred and six Nelore bulls aging from 3-10 years old were subjected to breeding soundness examination. After physical and morphological semen examination, HOS test was done. After the breeding soundness examination, 94.2% of the bulls were classified as sound for breeding. There was no difference between the average scrotal circumference of bulls classified as sound and unsound for breeding (P>0.05, but there was difference between all semen physical and morphological aspects of bulls classified as sound and unsound for breeding (P>0.05, but there was no difference in the mean percentage of reactive spermatozoa to HOS test results both for sound (38.4±17.9 and unsound animals (39.5±16.4; P>0.05, with no Pearson correlation between the HOS test and variables. According to these results HOS test can not be used alone to predict the reproductive potential of adult Nelore bulls.

  13. Preparation of highly-oxidized starch using hydrogen peroxide and its application as a novel ligand for zirconium tanning of leather.

    Science.gov (United States)

    Yu, Yue; Wang, Ya-Nan; Ding, Wei; Zhou, Jianfei; Shi, Bi

    2017-10-15

    A series of highly-oxidized starch (HOS) were prepared using H 2 O 2 and a copper-iron catalyst as a desired ligand for zirconium tanning of leather. The effects of catalyst and H 2 O 2 dosages, and reaction temperature on the oxidation degree (OD, represented as the amount of carbonyl and carboxyl groups derived) of starch were investigated. The OD reached 76.2% when oxidation was conducted using 60% H 2 O 2 and 0.015% catalyst at 98°C for 2h. 13 C NMR and FT-IR illustrated carbonyl and carboxyl groups were formed in HOS after oxidation. GPC and laser particle size analyses indicated the decrease of HOS molecular size with increasing H 2 O 2 dosage and OD. HOS with moderate OD and molecular weight was able to coordinate with zirconium and remarkably improve tanning process. Leather tanned by Zr complexes using HOS-60 (60% H 2 O 2 , Mn 3516g/mol) as ligand presented considerably better physical and organoleptic properties than those of traditional Zr-tanned leather. Copyright © 2017 Elsevier Ltd. All rights reserved.

  14. Forecasting of primary energy consumption data in the United States: A comparison between ARIMA and Holter-Winters models

    Science.gov (United States)

    Rahman, A.; Ahmar, A. S.

    2017-09-01

    This research has a purpose to compare ARIMA Model and Holt-Winters Model based on MAE, RSS, MSE, and RMS criteria in predicting Primary Energy Consumption Total data in the US. The data from this research ranges from January 1973 to December 2016. This data will be processed by using R Software. Based on the results of data analysis that has been done, it is found that the model of Holt-Winters Additive type (MSE: 258350.1) is the most appropriate model in predicting Primary Energy Consumption Total data in the US. This model is more appropriate when compared with Holt-Winters Multiplicative type (MSE: 262260,4) and ARIMA Seasonal model (MSE: 723502,2).

  15. LEOPARD syndrome is not linked to the Marfan syndrome and the Watson syndrome loci

    Energy Technology Data Exchange (ETDEWEB)

    Rass-Rothchild, A.: Abeliovitch, D.; Kornstein, A. [Tel Aviv Univ. (Israel)]|[Hebrew Univ., Jerusalem (Israel)

    1994-09-01

    The acronym LEOPARD stands for a syndromic association of Lentigines, Eletrocardiographic changes, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness. Inheritance is autosomal dominant with high penetrance and variable expressivity. In 1990 Torok et al. reported on the association of LEOPARD and Marfan syndrome. In addition a clinical similarity (cardiac and cutaneous involvement) exists with the Watson syndrome (neurofibromatosis and pulmonic stenosis) which is linked to the marker D17S33 on chromosome 17. We studied possible linkage of LEOPARD syndrome to the Marfan syndrome locus on chromosome 15 (D15S1, MF13, and (TAAAA)n repeats) and to the NF-1 locus on chromosome 17 in a family with 9 cases of LEOPARD syndrome. Close linkage between LEOPARD syndrome and both the Marfan locus on chromosome 15 and the NF-1 locus on chromosome 17 was excluded (lod score <-2.0 through {theta} = 0.1).

  16. Ludwig Wittgenstein

    DEFF Research Database (Denmark)

    Munch, Anders V.

    2006-01-01

    Filosoffen Wittgenstein var involveret i et byggeri sammen med arkitekten Paul Engelmann, elev af Adolf Loos. De filosofiske overvejelser om begrebet livsform kan belyse ideerne om den moderne arkitektur hos Loos, mens Loos' stilbegreb omvendt kan belyse sprogfilosofien hos Wittgenstein....

  17. Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

    Science.gov (United States)

    Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

    2014-06-01

    Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment.

  18. Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview

    NARCIS (Netherlands)

    de Maria, Beatrice; Mazzanti, Laura; Roche, Nathalie; Hennekam, Raoul C.

    2016-01-01

    Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or

  19. Autosomal dominant syndrome resembling Coffin-Siris syndrome.

    Science.gov (United States)

    Flynn, Maureen A; Milunsky, Jeff M

    2006-06-15

    Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin-Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin-Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin-Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin-Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature. Copyright 2006 Wiley-Liss, Inc.

  20. West syndrome in a patient with Schinzel-Giedion syndrome.

    Science.gov (United States)

    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. © The Author(s) 2014.

  1. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

  2. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  3. Psykosomatiske trivselsforstyrrelser hos spaede og småbørn

    DEFF Research Database (Denmark)

    Olsen, Else Marie; Skovgaard, Anne Mette

    2002-01-01

    Failure to thrive is found in 3-5% of infants in the general population. A minority has an organic explanation. Non-organic failure to thrive is associated with increased risk of physical illness, continued growth retardation as well as cognitive and emotional disturbances. Non-organic failure...... to thrive has traditionally been regarded as a maternal deprivation syndrome, but in recent population studies there has been found no evidence of mother-infant relationship disturbances as the main cause of non-organic failure to thrive is the general population. Non-organic failure to thrive is best...... characterised as a psychosomatic condition with multifactorial etiology. Development and course of failure to thrive has to be explored in longitudinal population studies with prospectively gathered data concerning the perinatal period and first year of life....

  4. Experimental study of APE1 RNA interference enhancing the sensitivity of neutron radiation in osteosarcoma

    International Nuclear Information System (INIS)

    Wang Dong; Qing Yi; Zhong Zhaoyang; Li Zengpeng; Zhang Xinhong; Yang Yuxin

    2007-01-01

    Objective: To knock down APE1 gene expression in HOS cells, and explore its antitumor effects in combination with 252 Cf neutron radiotherapy. Methods: pSilence APE1 siBNA plasmid was transfected into HOS cells by SuperFect Transfection liposome. The transfected HOS cells were irradiated by 252 Cf neutron, then MTY assay, clone formation assay and alkaline comet assay were used to detect the radiobiological reaction, and cell apoptosis was detected with flow cytometry. Results: The D 37 value was 3.02 vs. 2.42 in the control and transfected HOS cells respectively after irradiation with 252 Cf neutron, the DMF value is 1.43. The tail moments and cell apoptosis rate at 200, 500 and 1000 cGy showed significant difference between the two groups (P 252 Cf neutron radiotherapy may be a promising approach to therapy of human osteosarcoma in the future. (authors)

  5. [Cockett's syndrome, May-Thurner syndrome, or iliac vein compression syndrome].

    Science.gov (United States)

    Gil Martín, A R; Carreras Aja, M; Arrieta Ardieta, I; Labayen Azparren, I

    2014-01-01

    Iliac vein compression syndrome (also known as May-Thurner syndrome or Cockett's syndrome) is a rare clinical entity in which the left common iliac vein is compressed when it passes between the right common iliac artery and the spine. The sustained compression and trauma caused by the pulsatile force of the artery on the vein damage the intima and lead to the formation of membranes or bands in the vascular lumen that hinder or obstruct the flow of blood in the vein, favoring thrombus formation. The current treatment strategy of choice is endovascular vein patch angioplasty and stenting with the aim of improving the caliber of the lumen and enabling normal venous drainage. We present two cases of May-Thurner syndrome and review the clinical and CT findings. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

  6. LEOPARD syndrome

    Science.gov (United States)

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  7. Dravets syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  8. Antiproliferative effect of Tualang honey on oral squamous cell carcinoma and osteosarcoma cell lines

    Directory of Open Access Journals (Sweden)

    Ismail Noorliza M

    2010-09-01

    Full Text Available Abstract Background The treatment of oral squamous cell carcinomas (OSCC and human osteosarcoma (HOS includes surgery and/or radiotherapy which often lead to reduced quality of life. This study was aimed to study the antiproliferative activity of local honey (Tualang on OSCC and HOS cell lines. Methods Several concentrations of Tualang honey (1% - 20% were applied on OSCC and HOS cell lines for 3, 6, 12, 24, 48 and 72 hours. Morphological characteristics were observed under light and fluorescent microscope. Cell viability was assessed using MTT assay and the optical density for absorbance values in each experiment was measured at 570 nm by an ELISA reader. Detection of cellular apoptosis was done using the Annexin V-FITC Apoptosis Detection Kit. Results Morphological appearance showed apoptotic cellular changes like becoming rounded, reduction in cell number, blebbed membrane and apoptotic nuclear changes like nuclear shrinkage, chromatin condensation and fragmented nucleus on OSCC and HOS cell lines. Cell viability assay showed a time and dose-dependent inhibitory effect of honey on both cell lines. The 50% inhibitory concentration (IC50 for OSCC and HOS cell lines was found to be 4% and 3.5% respectively. The maximum inhibition of cell growth of ≥80% was obtained at 15% for both cell lines. Early apoptosis was evident by flow cytometry where percentage of early apoptotic cells increased in dose and time dependent manner. Conclusion Tualang honey showed antiproliferative effect on OSCC and HOS cell lines by inducing early apoptosis.

  9. Inertia and advance in the organic sector: food education in Denmark

    DEFF Research Database (Denmark)

    Dahl, Astrid; Kristensen, Niels Heine

    2005-01-01

    Dahl A, & Kristensen NH (2005): Inertia and advance in the organic sector: food education in Denmark. Chapter in Sociological Perspectives of Organic Agriculture. (Edt.: G. Holt and M. Reed). CABI, UK......Dahl A, & Kristensen NH (2005): Inertia and advance in the organic sector: food education in Denmark. Chapter in Sociological Perspectives of Organic Agriculture. (Edt.: G. Holt and M. Reed). CABI, UK...

  10. A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

    Science.gov (United States)

    Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

    2014-07-01

    To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

  11. Aarskog syndrome

    Science.gov (United States)

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  12. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    Science.gov (United States)

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  13. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    OpenAIRE

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  14. Cushing's Syndrome

    OpenAIRE

    宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

    2003-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

  15. OCD og orofaciale dyskinesier forårsaget af sjælden basalganglielidelse

    DEFF Research Database (Denmark)

    Elmgreen, Søren Bruno; Danielsen, Erik Hvid

    2014-01-01

    Bevægeforstyrrelser hos psykiatriske patienter skyldes sædvanligvis ekstrapyramidale bivirkninger til antipsykotisk medicin. Her beskrives en sjælden årsag til orofaciale dyskinesier, tungedystoni og koreiforme bevægelser hos en 31-årig mand i behandling for obsessiv-kompulsiv lidelse (OCD)....

  16. A practical approach to the management of high-output stoma

    Science.gov (United States)

    Mountford, Christopher G; Manas, Derek M; Thompson, Nicholas P

    2014-01-01

    The development of a high-output stoma (HOS) is associated with water, electrolyte and nutritional complications. Prompt, careful assessment and management is required to avoid rapid clinical deterioration in this patient population. A multidisciplinary approach to management ensures the best possible outcome and quality of life for patients who experience HOS. This article outlines the important considerations in the identification and pathophysiology of HOS. A systematic approach to the management of the condition is outlined, considering fluid and electrolyte requirements, nutrient deficiencies and manipulation of gastrointestinal absorption, motility and secretions using medical and surgical therapies. PMID:28839771

  17. Polycystic ovary syndrome and metabolic syndrome.

    Science.gov (United States)

    Ali, Aus Tariq

    2015-08-01

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

  18. Tourette syndrome

    Science.gov (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  19. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    Bhalli, M.A.; Aamir, M.; Mustafa, G.

    2011-01-01

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  20. Metabolic syndrome in acute coronary syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Bhalli, M A; Aamir, M; Mustafa, G [Combined Military Hospital, Abbottabad (Pakistan)

    2011-06-15

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  1. Exogenous Cushing syndrome

    Science.gov (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone ...

  2. Targets to treat metabolic syndrome in polycystic ovary syndrome.

    Science.gov (United States)

    Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

    2015-01-01

    Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics.

  3. Targets to treat metabolic syndrome in polycystic ovary syndrome

    Science.gov (United States)

    Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

    2016-01-01

    Introduction Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. Areas Covered This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Expert Opinion Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics. PMID:26488852

  4. Concurrent Van der Woude syndrome and Turner syndrome: A case report.

    Science.gov (United States)

    Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

    2017-01-01

    Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

  5. Effekten af perkutan koronar intervention hos kvinder med iskæmisk hjertesygdom

    DEFF Research Database (Denmark)

    Holmvang, Lene; Mickley, Hans

    2007-01-01

    PCI is effective in reducing symptoms in patients with stable angina pectoris, but it does not improve prognosis. In earlier trials PCI has been related to more procedure-related complications among women, but these gender differences are not as pronounced in recent studies. In acute coronary...... syndromes there is no evidence of gender differences regarding the benefit of primary PCI for ST-segment elevation myocardial infarction. However, several trials of unstable angina and non-ST-segment elevation myocardial infarction indicate that compared with men, women do not get the same benefit...

  6. Milk-alkali syndrome

    Science.gov (United States)

    Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium carbonate. Calcium ...

  7. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  8. Assessment of higher order structure comparability in therapeutic proteins using nuclear magnetic resonance spectroscopy.

    Science.gov (United States)

    Amezcua, Carlos A; Szabo, Christina M

    2013-06-01

    In this work, we applied nuclear magnetic resonance (NMR) spectroscopy to rapidly assess higher order structure (HOS) comparability in protein samples. Using a variation of the NMR fingerprinting approach described by Panjwani et al. [2010. J Pharm Sci 99(8):3334-3342], three nonglycosylated proteins spanning a molecular weight range of 6.5-67 kDa were analyzed. A simple statistical method termed easy comparability of HOS by NMR (ECHOS-NMR) was developed. In this method, HOS similarity between two samples is measured via the correlation coefficient derived from linear regression analysis of binned NMR spectra. Applications of this method include HOS comparability assessment during new product development, manufacturing process changes, supplier changes, next-generation products, and the development of biosimilars to name just a few. We foresee ECHOS-NMR becoming a routine technique applied to comparability exercises used to complement data from other analytical techniques. Copyright © 2013 Wiley Periodicals, Inc.

  9. Spectrum analysis of radiotracer residence time distribution for industrial and environmental applications

    International Nuclear Information System (INIS)

    Kasban, H.; Ashraf Hamid

    2014-01-01

    Radiotracer signal analysis and recognition still represents challenges in industrial and environmental applications specially in residence time distribution (RTD) measurement. This paper presents a development for the RTD signal recognition method that is based on power density spectrum (PDS). In this development, the features are extracted from the signals and/or from their higher-orders statistics (HOS) (Bispectrum and Trispectrum) instead of PDS. The HOS are estimated using direct, indirect and parametric estimations. The recognition results are analyzed and compared for different HOS estimation in order to select the best HOS estimation method for the purpose of RTD signal recognition. The artificial neural networks are used for training and testing of the proposed method. The proposed method is tested using RTD signals obtained from the measurements carried out using radiotracer technique. The simulation results show that the parametric estimation of the Trispectrum gives the higher recognition rate and is the most reliable for the RTD signal recognition. (author)

  10. Changes in the structural and biochemical composition of the arterial wall in type 2 diabetes patients

    DEFF Research Database (Denmark)

    Rørdam Preil, Simone

    Arteriel stivhed er et normalt aldersbetinget fænomen. Hos patienter med type 2 diabetes synes udviklingen af arteriel stivhed accelereret, hvilket kunne være årsagen til den forøgede incidens af kardiovaskulære sygdomme hos disse patienter. Ophobningen af kollagen og/eller nedbrydningen af elastin...... ikke-atherosclerotisk arterievæv fra patienter med og uden type 2 diabetes. Arteriesnittene fra mammaria arterierne blev farvet for makrofager, elastin, kollagen og α smooth muscle actin, hvorefter vi målte området for kollagen og elastin og antallet af celler, der farves for α smooth muscle actin, ved...... laget signifikant lavere hos patienter med diabetes, og kollagen farvningen viste et større farvet område i intima og media lagene hos type 2 diabetes patienter end for patienterne uden diabetes. Ydermere forholder det sig således, at størstedelen af patienter med type 2 diabetes bliver behandlet med...

  11. Brief Report: Repetitive Behaviour Profiles in Williams Syndrome: Cross Syndrome Comparisons with Prader-Willi and Down Syndromes

    Science.gov (United States)

    Royston, R.; Oliver, C.; Moss, J.; Adams, D.; Berg, K.; Burbidge, C.; Howlin, P.; Nelson, L.; Stinton, C.; Waite, J.

    2018-01-01

    This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

  12. Loeys-Dietz Syndrome

    Science.gov (United States)

    ... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

  13. Pre-Menstrual Syndrome in Women with Down Syndrome

    Science.gov (United States)

    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…

  14. On the Brink: Instability and the Prospect of State Failure in Pakistan

    Science.gov (United States)

    2010-04-12

    6 Noam Chomsky , Failed States: The Abuse of Power and the Assault on Democracy (New York: Metropolitan Books...Henry Holt, 2006), 106. 7 Chomsky , 107. 8 Ibid., 107-108. 7 Figure 1: The Proliferation of Nations 1914-2002 Source: Data Adapted from Robert...accessed December 31, 2009). Chomsky , Noam. Failed States: The Abuse of Power and the Assault on Democracy. New York: Metropolitan Press/Henry Holt, 2006

  15. Inside the Sea Dragon: The Generations within the Current Peoples Liberation Army Navy Officer Corps

    Science.gov (United States)

    2016-06-10

    Replace America as the Global Superpower (New York: Henry Holt, 2015). 29 David C Kang, China Rising: Peace, Power, and Order in East Asia (New York...been significant for the preponderance of PLAN officers. The level of censorship in 154 Ellis...Secret Strategy to Replace America as the Global Superpower. New York: Henry Holt, 2015. President Richard Nixon’s Daily Diary February 16, 1972

  16. A Change Management Approach to Enhance Facility Maintenance Programs

    Science.gov (United States)

    2014-03-27

    freezing the organization with the new vector (Lewin, 1947). Since Lewin’s findings, many variations of change implementation models have been...exist between their own 37 expectations about the change initiative and those of other members” (Holt, Armenakis, Feild , & Harris, 2007:233...U.S. Army Corps of Engineers Institute for Water Resources , Alexandria, VA. Holt, D. T., Armenakis, A. A., Feild , H. S., & Harris, S. G. (2007

  17. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  18. Coexistence of Reverse Capgras Syndrome, Subjective Double and Cotard Syndrome

    Directory of Open Access Journals (Sweden)

    Azadeh Mashayekhi

    2016-01-01

    Full Text Available Misidentification syndrome is a condition in which the person thinks that familiar persons have been replaced with other one. Coexistence of some types of this syndrome has been reported with other psychiatric syndromes. In this report, we present a 47-year-old married man with coexistence of reverse Capgras and subjective double syndromes with Cotard syndrome. There is no previous report of coexistence of these three forms of delusions in a single case.

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

    Science.gov (United States)

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

    2016-06-01

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

  20. Aicardi Syndrome

    Science.gov (United States)

    ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

  1. Kognition, evolution og Bibel

    DEFF Research Database (Denmark)

    Jensen, Hans Jørgen Lundager

    2012-01-01

    En opfordring til, at Bibelvidneskaberne oprienterer sig i retning af aktuelle teorier om bio-kulturel evolution (Merlin Donald, aksetids-teori hos fx Robert Bellah)......En opfordring til, at Bibelvidneskaberne oprienterer sig i retning af aktuelle teorier om bio-kulturel evolution (Merlin Donald, aksetids-teori hos fx Robert Bellah)...

  2. Nordic Branding Podcast 1

    DEFF Research Database (Denmark)

    2017-01-01

    Hvilke værdier er 'Nordiske'? Vi starter hos Brandbase i Odense og ser på WODENs Skandinaviske sneakers og Jim Lyngvilds vilde branding.......Hvilke værdier er 'Nordiske'? Vi starter hos Brandbase i Odense og ser på WODENs Skandinaviske sneakers og Jim Lyngvilds vilde branding....

  3. Fournier gangrene associated with hyper IgE syndrome (Job syndrome).

    Science.gov (United States)

    Hori, Junichi; Yamaguchi, Satoshi; Watanabe, Masaki; Osanai, Hiroaki; Hori, Masako

    2008-04-01

    We report a case of a 32-year-old man with hyper IgE syndrome (Job syndrome) who developed Fournier gangrene due to infectious multiple atheromas of the scrotal skin that progressed to the right groin and thigh. The patient required surgical debridement and subsequent skin grafting. This is a rare case of Fournier gangrene associated with hyper IgE syndrome (Job syndrome). When a patient without diabetes mellitus has repeated infections and atopic-like dermatitis, Job syndrome should be considered.

  4. Down Syndrome

    Science.gov (United States)

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  5. Validation of the Spanish version of the Hip Outcome Score: a multicenter study.

    Science.gov (United States)

    Seijas, Roberto; Sallent, Andrea; Ruiz-Ibán, Miguel Angel; Ares, Oscar; Marín-Peña, Oliver; Cuéllar, Ricardo; Muriel, Alfonso

    2014-05-13

    The Hip Outcome Score (HOS) is a self-reported questionnaire evaluating the outcomes of treatment interventions for hip pathologies, divided in 19 items of activities of daily life (ADL) and 9 sports' items. The aim of the present study is to translate and validate HOS into Spanish. A prospective and multicenter study with 100 patients undergoing hip arthroscopy was performed between June 2012 and January 2013. Crosscultural adaptation was used to translate HOS into Spanish. Patients completed the questionnaire before and after surgery. Feasibility, reliability, internal consistency, construct validity (correlation with Western Ontario and McMaster Universities Osteoarthritis Index), ceiling and floor effects and sensitivity to change were assessed for the present study. Mean age was 45.05 years old. 36 women and 64 men were included. Feasibility: 13% had at least one missing item within the ADL subscale and 17% within the sport subscale. Reliability: the translated version of HOS was highly reproducible with intraclass correlation coefficient of 0.95 for ADL and 0.94 for the sports subscale. Internal consistency was confirmed with Cronbach's alpha >0.90 in both subscales. Construct validity showed statistically significant correlation with WOMAC. Ceiling effect was observed in 6% and 12% for ADL and sports subscale, respectively. Floor effect was found in 3% and 37% ADL and sports subscale, respectively. Large sensitivity to change was shown in both subscales. The translated version of HOS into Spanish has shown to be feasible, reliable and sensible to changes for patients undergoing hip arthroscopy. This validated translation of HOS allows for comparisons between studies involving either Spanish- or English-speaking patients. Prognostic study, Level I.

  6. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Development and characteristics of children with Usher syndrome and CHARGE syndrome.

    Science.gov (United States)

    Dammeyer, Jesper

    2012-09-01

    Individuals with Usher syndrome or CHARGE syndrome are faced with a number of difficulties concerning hearing, vision, balance, and language development. The aim of the study is to describe the developmental characteristics of children with Usher syndrome and CHARGE syndrome, respectively. Data about the developmental characteristics of 26 children with Usher syndrome and 17 children with CHARGE syndrome was obtained. Associations between deafblindness (dual sensory loss), motor development (age of walking), language abilities, and intellectual outcome of these children were explored for each group independently. Both groups of children face a number of difficulties associated with vision, hearing, language, balance and intellectual outcome. Intellectual disability and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome. Intellectual disability was associated with language delay and age of walking for both groups. Even though Usher and CHARGE are two different genetic syndromes, both groups are challenged with a number of similar developmental delays. Clinicians need to be aware of several developmental issues in order to offer adequate support to children with Usher or CHARGE syndrome. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  8. Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome.

    Science.gov (United States)

    Sundelin, Heléne E K; Stephansson, Olof; Johansson, Kari; Ludvigsson, Jonas F

    2017-01-01

    An increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. In this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome or Ehlers-Danlos syndrome or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby, 314 singleton births to women with joint hypermobility syndrome/Ehlers-Danlos syndrome before delivery were identified. These births were compared with 1 247 864 singleton births to women without a diagnosis of joint hypermobility syndrome/Ehlers-Danlos syndrome. We used logistic regression, adjusted for maternal age, smoking, parity, and year of birth, to calculate adjusted odds ratios for adverse pregnancy outcomes. Maternal joint hypermobility syndrome/Ehlers-Danlos syndrome was not associated with any of our outcomes: preterm birth (adjusted odds ratio = 0.6, 95% confidence interval 0.3-1.2), preterm premature rupture of membranes (adjusted odds ratio = 0.8; 95% confidence interval 0.3-2.2), cesarean section (adjusted odds ratio = 0.9, 95% confidence interval 0.7-1.2), stillbirth (adjusted odds ratio = 1.1, 95% confidence interval 0.2-7.9), low Apgar score (adjusted odds ratio = 1.6, 95% confidence interval 0.7-3.6), small for gestational age (adjusted odds ratio = 0.9, 95% confidence interval 0.4-1.8) or large for gestational age (adjusted odds ratio = 1.2, 95% confidence interval 0.6-2.1). Examining only women with Ehlers-Danlos syndrome (n = 62), we found a higher risk of induction of labor (adjusted odds ratio = 2.6; 95% confidence interval 1.4-4.6) and amniotomy (adjusted odds ratio = 3.8; 95% confidence interval 2.0-7.1). No excess risks for adverse pregnancy outcome were seen in joint hypermobility syndrome. Women with joint hypermobility syndrome/Ehlers-Danlos syndrome do not seem to be at increased risk of adverse pregnancy outcome. © 2016 Nordic Federation of

  9. Wolf-Hirschhorn (4p-) syndrome with West syndrome.

    Science.gov (United States)

    Motoi, Hirotaka; Okanishi, Tohru; Kanai, Sotaro; Yokota, Takuya; Yamazoe, Tomohiro; Nishimura, Mitsuyo; Fujimoto, Ayataka; Yamamoto, Takamichi; Enoki, Hideo

    2016-01-01

    Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalogram was hypsarrhythmic. After adding lamotrigine, seizures decreased remarkably, and spasms disappeared. We have identified and described the very rare case of a girl with WHS who also developed West syndrome. In this case, adding lamotrigine to her medications effectively treated the spasms.

  10. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  11. New-onset atrial fibrillation after acute myocardial infarction in patients with left ventricular systolic dysfunction recorded by an Implantable Cardiac Monitor - Incidence, prediction and prognosis

    DEFF Research Database (Denmark)

    Jøns, Christian

    2010-01-01

    BAGGRUND OG FORMÅL Forekomsten af atrieflimren (AF) er øget hos patienter med akut myokardieinfarkt og venstre ventrikel dysfunction (defineret som LVEF ≤ 40%), men langtidsforekomst og prognose for nyopstået AF hos denne population er ukendt. Formålet med denne afhandling er, at undersøge foreko...

  12. Using a Professional Development Program for Enhancing Chilean Biology Teachers' Understanding of Nature of Science (NOS) and Their Perceptions about Using History of Science to Teach NOS

    Science.gov (United States)

    Pavez, José M.; Vergara, Claudia A.; Santibañez, David; Cofré, Hernán

    2016-01-01

    A number of authors have recognized the importance of understanding the nature of science (NOS) for scientific literacy. Different instructional strategies such as decontextualized, hands-on inquiry, and history of science (HOS) activities have been proposed for teaching NOS. This article seeks to understand the contribution of HOS in enhancing…

  13. [Poland's syndrome].

    Science.gov (United States)

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  14. [Gardner syndrome--parent alienation syndrome (PAS). Diagnosis or family reality?].

    Science.gov (United States)

    Namysłowska, Irena; Heitzman, Janusz; Siewierska, Anna

    2009-01-01

    The authors present characteristics of Parental Alienation Syndrome (PAS) proposed by Gardner as well as data, which may help to differentiate that syndrome with real psychological, physical and sexual abuse. The consequences of Gardner Syndrome for legal decisions in the court cases of child custody and the critique of this syndrome in forensic and psychiatric literature are also discussed, and several questions posed. Authors propose to treat Gardner Syndrome not as as a child disorder but as a specific, dynamic family situation, which occurs sometimes, during divorce and fight about child custody.

  15. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    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.

  16. Numerical Simulation of a Seaway with Breaking

    Science.gov (United States)

    Dommermuth, Douglas; O'Shea, Thomas; Brucker, Kyle; Wyatt, Donald

    2012-11-01

    The focus of this presentation is to describe the recent efforts to simulate a fully non-linear seaway with breaking by using a high-order spectral (HOS) solution of the free-surface boundary value problem to drive a three-dimensional Volume of Fluid (VOF) solution. Historically, the two main types of simulations to simulate free-surface flows are the boundary integral equations method (BIEM) and high-order spectral (HOS) methods. BIEM calculations fail at the point at which the surface impacts upon itself, if not sooner, and HOS methods can only simulate a single valued free-surface. Both also employ a single-phase approximation in which the effects of the air on the water are neglected. Due to these limitations they are unable to simulate breaking waves and air entrainment. The Volume of Fluid (VOF) method on the other hand is suitable for modeling breaking waves and air entrainment. However it is computationally intractable to generate a realistic non-linear sea-state. Here, we use the HOS solution to quickly drive, or nudge, the VOF solution into a non-linear state. The computational strategies, mathematical formulation, and numerical implementation will be discussed. The results of the VOF simulation of a seaway with breaking will also be presented, and compared to the single phase, single valued HOS results.

  17. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

  18. Learning about Marfan Syndrome

    Science.gov (United States)

    ... Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most common inherited ... FAQ Top of page Additional Resources For Marfan Syndrome Marfan syndrome [nlm.nih.gov] From Medline Plus Marfan ...

  19. Divorce in families of children with Down Syndrome or Rett Syndrome.

    Science.gov (United States)

    Lederman, Vivian Renne Gerber; Alves, Bianca dos Santos; Negrão, Juliana; Maria, Juliana Negrão; Schwartzman, José Salomão; D'Antino, Maria Eloisa Famá; Brunoni, Decio

    2015-05-01

    This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.

  20. The sick-building syndrome; Das Sick-Building-Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Henne, A.; Neumann, H.F.; Winneke, G.

    1992-12-31

    The sick-building syndrome is characterized by the presence of general, non-specific symptoms (e.g., headache, tiredness, respiratory problems, eye trouble, vertigo, nausea, unspecific hypersensitivity) in association with a particular indoor ambience. It is clearly distinguishable from `building-related illness`, referring to a well-defined clinical syndrome due to staying in a building and for which a cause can, in general, be established. Disorders in the case of the sick-building syndrome are manifold and confirmed objectifiable results are hardly available so far. Yet there are some organ-related methods for the confirmation of findings concerning, for instance, the eyes, the skin and the area of the nose. The causes of the incidence of sick-building syndrome are more or less unclear. It is a multifactorial phenomenon involving physical, biological, chemical, individual-specific and psychological factors. Buildings where sick-building syndrome occurs typically exhibit certain properties. The European Community has already made proposals for the investigation of incriminated buildings. A systematic survey by questionnaire together with individual interviews plays an import part towards clarifying the syndrome. (orig./UWA) [Deutsch] Das Sick-Building-Syndrom beschreibt das Vorhandensein von allgemeinen, nicht spezifischen Symptomen (z.B. Kopfschmerzen, Muedigkeit, Atembeschwerden, Augenreizungen, Schwindelgefuehl, Uebelkeit, unspezifische Ueberempfindlichkeit), assoziiert mit einer besonderen Innenraumumgebung. Deutlich hiervon abzugrenzen ist die ``Building related illness``, bei der ein klinisch definiertes Krankheitsbild vorliegt, das durch den Aufenthalt im Gebaeude verursacht wird und fuer das im allgemeinen eine Ursache ermittelt werden kann. Das Beschwerdebild beim Sick-Building-Syndrom ist vielfaeltig, und gesicherte, objektivierbare Befunde liegen hierzu bisher kaum vor. Dennoch gibt es einige organbezogenen Methoden zur Befundabsicherung, z.B. fuer das

  1. Hypokalaemia: Bartter's syndrome or pseudo-Bartter's syndrome?

    OpenAIRE

    Robb, J D; Delargy, M A; Nolan, M; Tomkin, G H

    1984-01-01

    The difficulties in the diagnosis of hypokalaemia are often considerable. This paper reports three patients who presented with hypokalaemia. Investigations are described which may help to distinguish Bartter's syndrome from pseudo-Bartter's syndrome.

  2. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  3. What Is Usher Syndrome?

    Science.gov (United States)

    ... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

  4. The Use of Help Options in Multimedia Listening Environments to Aid Language Learning: A Review

    Science.gov (United States)

    Mohsen, Mohammed Ali

    2016-01-01

    This paper provides a comprehensive review on the use of help options (HOs) in the multimedia listening context to aid listening comprehension (LC) and improve incidental vocabulary learning. The paper also aims to synthesize the research findings obtained from the use of HOs in Computer-Assisted Language Learning (CALL) literature and reveals the…

  5. Autoimmune/inflammatory syndrome induced by adjuvants (Shoenfeld's syndrome) - An update.

    Science.gov (United States)

    Watad, A; Quaresma, M; Brown, S; Cohen Tervaert, J W; Rodríguez-Pint, I; Cervera, R; Perricone, C; Shoenfeld, Y

    2017-06-01

    Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) has been widely described in many studies conducted thus far. The syndrome incorporates five immune-mediated conditions, all associated with previous exposure to various agents such as vaccines, silicone implants and several others. The emergence of ASIA syndrome is associated with individual genetic predisposition, for instance those carrying HLA-DRB1*01 or HLA-DRB4 and results from exposure to external or endogenous factors triggering autoimmunity. Such factors have been demonstrated as able to induce autoimmunity in both animal models and humans via a variety of proposed mechanisms. In recent years, physicians have become more aware of the existence of ASIA syndrome and the relationship between adjuvants exposure and autoimmunity and more cases are being reported. Accordingly, we have created a registry that includes at present more than 300 ASIA syndrome cases that have been reported by different physicians worldwide, describing various autoimmune conditions induced by diverse adjuvants. In this review, we have summarized the updated literature on ASIA syndrome and the knowledge accumulated since 2013 in order to elucidate the association between the exposure to various adjuvant agents and its possible clinical manifestations. Furthermore, we especially referred to the relationship between ASIA syndrome and systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS).

  6. Signal transduction and downregulation of C-MET in HGF stimulated low and highly metastatic human osteosarcoma cells

    Energy Technology Data Exchange (ETDEWEB)

    Husmann, Knut, E-mail: khusmann@research.balgrist.ch [Laboratory for Orthopedic Research, Department of Orthopedics, Balgrist University Hospital, University of Zurich, Zurich (Switzerland); Ducommun, Pascal [Laboratory for Orthopedic Research, Department of Orthopedics, Balgrist University Hospital, University of Zurich, Zurich (Switzerland); Division of Plastic Surgery and Hand Surgery, Department of Surgery, University Hospital Zurich, Zurich (Switzerland); Sabile, Adam A.; Pedersen, Else-Marie; Born, Walter; Fuchs, Bruno [Laboratory for Orthopedic Research, Department of Orthopedics, Balgrist University Hospital, University of Zurich, Zurich (Switzerland)

    2015-09-04

    The poor outcome of osteosarcoma (OS), particularly in patients with metastatic disease and a five-year survival rate of only 20%, asks for more effective therapeutic strategies targeting malignancy-promoting mechanisms. Dysregulation of C-MET, its ligand hepatocyte growth factor (HGF) and the fusion oncogene product TPR-MET, first identified in human MNNG-HOS OS cells, have been described as cancer-causing factors in human cancers. Here, the expression of these molecules at the mRNA and the protein level and of HGF-stimulated signaling and downregulation of C-MET was compared in the parental low metastatic HOS and MG63 cell lines and the respective highly metastatic MNNG-HOS and 143B and the MG63-M6 and MG63-M8 sublines. Interestingly, expression of TPR-MET was only observed in MNNG-HOS cells. HGF stimulated the phosphorylation of Akt and Erk1/2 in all cell lines investigated, but phospho-Stat3 remained at basal levels. Downregulation of HGF-stimulated Akt and Erk1/2 phosphorylation was much faster in the HGF expressing MG63-M8 cells than in HOS cells. Degradation of HGF-activated C-MET occurred predominantly through the proteasomal and to a lesser extent the lysosomal pathway in the cell lines investigated. Thus, HGF-stimulated Akt and Erk1/2 signaling as well as proteasomal degradation of HGF activated C-MET are potential therapeutic targets in OS. - Highlights: • Expression of TPR-MET was only observed in MNNG-HOS cells. • HGF stimulated the phosphorylation of Akt and Erk1/2 but not of Stat3 in osteosarcoma cell lines. • Degradation of HGF-activated C-MET occurred predominantly through the proteasomal pathway.

  7. Migration and settlement of immigrants in a rural Danish municipality

    DEFF Research Database (Denmark)

    Nørgaard, Helle

    Since 2000, international migration has increased in several European countries with settlement in both urban and rural areas. However, the proportion of immigrants settling in rural areas is much larger in the Nordic regions compared to other European countries (Hedberg & Haandrikman, 2014; Søholt......, Aasland, Onsager & Vestby, 2012; Søholt, Tronstad, Rose & Vestby, 2015). At the same time, the Nordic countries have been the destination of a large number of asylum seekers and refugees, many of whom are settled in rural areas. Thus, migration of international migrants; immigrants and refugees change...... the demographic and ethnic composition of rural populations and contribute to the transformation of rural places (Hedberg, Forsberg, & Najib, 2012; Stenbacka: 2012 & 2016 and Søholt, Stenbacka & Nørgaard, 2017). This paper is based on a case study in a rural Danish municipality, where immigrants constitute...

  8. Undersøgelse for Mycoplasma bovis i praksislaboratoriet

    DEFF Research Database (Denmark)

    Krogh, Kaspar; Kokotovic, Branko; Voss, Heidi

    2012-01-01

    Mycoplasma anses for at være en medvirkende årsag til en lang række sygdomsforløb hos kvæg og andre dyrearter.......Mycoplasma anses for at være en medvirkende årsag til en lang række sygdomsforløb hos kvæg og andre dyrearter....

  9. Over-expression of NAD kinase in Corynebacterium crenatum and ...

    African Journals Online (AJOL)

    in Corynebacterium crenatum SYPA5-5 and to study its impact in presence of high (HOS) ... Results: In HOS condition, NAD+ kinase activity increased by 116 %, while ... (NADPH), an important co-enzyme during ... Polymerase, TaKaRa) using C. crenatum .... were washed with cold 100 mM PBS (pH 7.5) ..... Catalase and.

  10. Prevalencia y carga parasitaria de helmintos gastrointestinales en gallinas de traspatio (Gallus Gallus Domesticus), en el municipio de El Sauce, departamento de León, Nicaragua

    DEFF Research Database (Denmark)

    Olivares, L. Luna; Kyvsgaard, Niels Chr.; Rimbaud, E.

    2006-01-01

    Prævalens og parasitbyrde af gastrointestinale helminter hos fritgående høns (Gallus gallus domesticus) i El Sauce kommune, León departementet, Nicaragua......Prævalens og parasitbyrde af gastrointestinale helminter hos fritgående høns (Gallus gallus domesticus) i El Sauce kommune, León departementet, Nicaragua...

  11. El monstruo en cine y literatura

    DEFF Research Database (Denmark)

    Cifuentes-Aldunate, Claudio

    2012-01-01

    Det drejer sig om 4 artikler af forskellige forfatter, som reflekter om monsterets figuren i en konkret film (El espíritu de la colmena) og hos flere fiktionsforfatter som Mario Vargas Llosa, Ernesto Sábato, José Bianco, Jorge Luis Borges,etc. MIn egen artikel centrere sig i monsteret hos José Do...

  12. On the Analytical Superiority of 1D NMR for Fingerprinting the Higher Order Structure of Protein Therapeutics Compared to Multidimensional NMR Methods.

    Science.gov (United States)

    Poppe, Leszek; Jordan, John B; Rogers, Gary; Schnier, Paul D

    2015-06-02

    An important aspect in the analytical characterization of protein therapeutics is the comprehensive characterization of higher order structure (HOS). Nuclear magnetic resonance (NMR) is arguably the most sensitive method for fingerprinting HOS of a protein in solution. Traditionally, (1)H-(15)N or (1)H-(13)C correlation spectra are used as a "structural fingerprint" of HOS. Here, we demonstrate that protein fingerprint by line shape enhancement (PROFILE), a 1D (1)H NMR spectroscopy fingerprinting approach, is superior to traditional two-dimensional methods using monoclonal antibody samples and a heavily glycosylated protein therapeutic (Epoetin Alfa). PROFILE generates a high resolution structural fingerprint of a therapeutic protein in a fraction of the time required for a 2D NMR experiment. The cross-correlation analysis of PROFILE spectra allows one to distinguish contributions from HOS vs protein heterogeneity, which is difficult to accomplish by 2D NMR. We demonstrate that the major analytical limitation of two-dimensional methods is poor selectivity, which renders these approaches problematic for the purpose of fingerprinting large biological macromolecules.

  13. Toxic shock syndrome

    Science.gov (United States)

    Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

  14. Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

    Science.gov (United States)

    Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

    2014-01-01

    Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

  15. Management of moyamoya syndrome in patients with Noonan syndrome.

    Science.gov (United States)

    Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

    2016-06-01

    A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

  16. Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

    OpenAIRE

    Hill, Elizabeth A.

    2016-01-01

    Key points Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors. The prevalence of OSAHS in adults with Down syndrome is estimated at 35?42%. This is up to ten-times higher than in the general adult population. Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surve...

  17. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Intramural Research Home / Metabolic Syndrome Metabolic Syndrome Also known as What Is Metabolic syndrome ... metabolic risk factors to be diagnosed with metabolic syndrome. Metabolic Risk Factors A Large Waistline Having a large ...

  18. Skal domstole være demokratisk tilgængelige?

    DEFF Research Database (Denmark)

    Schaumburg-Müller, Sten

    2009-01-01

    Domstolenes rolle i forhold til den demokratiske tilgængelighed stilles til debat. Spørgsmålet er uklart både i teorien (såvel hos Montesquieu om magtens tredeling som hos Habermas om den borgerlige offentlighed), i loven og i den retlige praksis. Det foreslås at alle, herunder politikere som...

  19. Ny vaccine mod ledbetændelse er ikke effektiv

    DEFF Research Database (Denmark)

    Nielsen, Elisabeth Okholm; Lauritsen, Klara Tølbøll

    2013-01-01

    En ny mulighed for at vaccinere mod mykoplasma-ledbetændelse er undersøgt hos en slagtesvineproducent. Vaccinen kunne desværre ikke forebygge halthed eff ektivt.......En ny mulighed for at vaccinere mod mykoplasma-ledbetændelse er undersøgt hos en slagtesvineproducent. Vaccinen kunne desværre ikke forebygge halthed eff ektivt....

  20. Technology and Learning

    DEFF Research Database (Denmark)

    Guttorm Andersen, Pia; Hansen, Ole

    Teknologier giver adgang til viden - og med viden forøges handlemulighederne. Teknologier nedbryder traditionelle barrierer som tid og sted. Teknologier øger kompetencerne hos den enkelte borger......Teknologier giver adgang til viden - og med viden forøges handlemulighederne. Teknologier nedbryder traditionelle barrierer som tid og sted. Teknologier øger kompetencerne hos den enkelte borger...

  1. How In-Service Science Teachers Integrate History and Nature of Science in Elementary Science Courses

    Science.gov (United States)

    Hacieminoglu, Esme

    2014-01-01

    The purpose of this study is to investigate how the in-service science teachers' (IST) perceptions and practices about curriculum and integration of the history of science (HOS) and the nature of science (NOS) affect their science courses. For this aim, how ISTs integrated the NOS and HOS in their elementary science courses for understanding of…

  2. Zoonoser er andet og mere end fødevarebårne sygdomme

    DEFF Research Database (Denmark)

    Guardabassi, Luca; Bisgaard, Magne

    2007-01-01

    Ingen af de bedst kendte zoonoser i historien er fødevarebårne - reelt har det vist sig, at mange nye infektionssygdomme hos mennesker stammer fra dyr.......Ingen af de bedst kendte zoonoser i historien er fødevarebårne - reelt har det vist sig, at mange nye infektionssygdomme hos mennesker stammer fra dyr....

  3. Demens: ikke farmakologiske interventioner - en kommenteret udenlandsk medicinsk teknologivurdering

    DEFF Research Database (Denmark)

    Sørensen, Lisbeth Villemoes

    Fysisk træning som gang, styrketræning og yoga kan hæmme udvikling af demens hos raske ældre og forbedre fysisk funktion hos personer med demens. Det peger en undersøgelse fra Sundhedsstyrelsen på. Undersøgelsen belyser effekten af ikke-medicinske indsatser til personer med og uden demens. Der er...

  4. Demens: ikke farmakologiske interventioner - en kommenteret udenlandsk medicinsk teknologivurdering

    DEFF Research Database (Denmark)

    Sørensen, Lisbeth Villemoes

    2010-01-01

    Fysisk træning som gang, styrketræning og yoga kan hæmme udvikling af demens hos raske ældre og forbedre fysisk funktion hos personer med demens. Det peger en undersøgelse fra Sundhedsstyrelsen på. Undersøgelsen belyser effekten af ikke-medicinske indsatser til personer med og uden demens. Der er...

  5. Humor er en alvorlig sag

    DEFF Research Database (Denmark)

    Søltoft, Pia

    2016-01-01

    I modsætning til ironi er humor for Kierkegaard fællesskabsgivende – ironikeren hævder sig selv, men humoristen har sympati med den, man ler med. Humor er hos Kierkegaard udtryk for, at humoristen forliger sig med tilværelsen og dens luner, og dermed grænser humoren hos Kierkegaard op til det...

  6. Prune belly syndrome

    Science.gov (United States)

    Eagle-Barrett syndrome; Triad syndrome ... The exact causes of prune belly syndrome are unknown. The condition affects mostly boys. While in the womb, the developing baby's abdomen swells with fluid. Often, the cause is ...

  7. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha

    2011-01-01

    Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

  8. Refeeding syndrome

    OpenAIRE

    Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

    2008-01-01

    Refeeding syndrome is a potentially fatal medical condition that may affect malnourished patients in response to an inappropriately rapid overfeeding. This commonly occurs following the institution of nutritional support, especially parenteral or enteral nutrition. The most characteristic pathophysiology of refeeding syndrome relates to the rapid consumption of phosphate after glucose intake and subsequent hypophosphatemia. Refeeding syndrome can manifest as either metabolic changes (hypokala...

  9. Nevoid basal cell carcinoma syndrome

    Science.gov (United States)

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic ... syndrome is known as PTCH ("patched"). The gene is passed down ...

  10. The wellness syndrome

    DEFF Research Database (Denmark)

    Mik-Meyer, Nanna

    2015-01-01

    Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.).......Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.)....

  11. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  12. Bardet-Biedl syndrome and Usher syndrome.

    Science.gov (United States)

    Koenig, Rainer

    2003-01-01

    Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients.

  13. Abdominal compartment syndrome with acute reperfusion syndrome

    International Nuclear Information System (INIS)

    Maleeva, A.

    2017-01-01

    Abdominal compartment syndrome was recognized clinically in the 19th century when Marey and Burt observed its association with declines in respiratory function. Abdominal compartment syndrome is first used as a medical terminology from Fietsman in a case of ruptured abdominal aortic aneurysm. A condition caused by abnormally increased pressure within the abdomen. Causes of abdominal compartment syndrome include trauma, surgery, or infection. Common symptoms: abdominal distension, fast heart rate, insufficient urine production, or low blood pressure Medical procedure: nasogastric intubation Surgery: laparotomy Specialists: radiologist, primary care provider (PCP), surgeon, and emergency medicine doctor [6, 10]. Keywords: Stomach. Gastroparesis . Diabetes Mellitus [bg

  14. Genetic profiling of two phenotypically distinct outbred rats derived from a colony of the Zucker fatty rats maintained at Tokyo Medical University

    Science.gov (United States)

    Nakanishi, Satoshi; Kuramoto, Takashi; Kashiwazaki, Naomi; Yokoi, Norihide

    2016-01-01

    The Zucker fatty (ZF) rat is an outbred rat and a well-known model of obesity without diabetes, harboring a missense mutation (fatty, abbreviated as fa) in the leptin receptor gene (Lepr). Slc:Zucker (Slc:ZF) outbred rats exhibit obesity while Hos:ZFDM-Leprfa (Hos:ZFDM) outbred rats exhibit obesity and type 2 diabetes. Both outbred rats have been derived from an outbred ZF rat colony maintained at Tokyo Medical University. So far, genetic profiles of these outbred rats remain unknown. Here, we applied a simple genotyping method using Ampdirect reagents and FTA cards (Amp-FTA) in combination with simple sequence length polymorphisms (SSLP) markers to determine genetic profiles of Slc:ZF and Hos:ZFDM rats. Among 27 SSLP marker loci, 24 loci (89%) were fixed for specific allele at each locus in Slc:ZF rats and 26 loci (96%) were fixed in Hos:ZFDM rats, respectively. This indicates the low genetic heterogeneity in both colonies of outbred rats. Nine loci (33%) showed different alleles between the two outbred rats, suggesting considerably different genetic profiles between the two outbred rats in spite of the same origin. Additional analysis using 72 SSLP markers further supported these results and clarified the profiles in detail. This study revealed that genetic profiles of the Slc:ZF and Hos:ZFDM outbred rats are different for about 30% of the SSLP marker loci, which is the underlying basis for the phenotypic difference between the two outbred rats. PMID:27795491

  15. Munchausen syndrome and Munchausen syndrome by proxy in dermatology.

    Science.gov (United States)

    Boyd, Alan S; Ritchie, Coleman; Likhari, Sunaina

    2014-08-01

    Patients with Munchausen syndrome purposefully injure themselves, often with the injection of foreign materials, to gain hospital admission and the attention associated with having a difficult-to-identify condition. Munchausen syndrome by proxy occurs when a child's caregiver, typically the mother, injures the child for the same reasons. Cases of Munchausen syndrome and Munchausen syndrome by proxy with primary cutaneous involvement appear to be rarely described in the literature suggesting either that diagnosis is not made readily or that it is, in fact, an uncommon disorder. At the center of both conditions is significant psychological pathology and treatment is difficult as many patients with Munchausen syndrome when confronted with these diagnostic possibilities simply leave the hospital. Little is known about the long-term outcome or prognosis of these patients. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  16. Roberts-SC syndrome, a rare syndrome and cleft palate repair

    Directory of Open Access Journals (Sweden)

    Murthy Jyotsna

    2008-01-01

    Full Text Available Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.

  17. Sjogren-Larsson Syndrome

    Science.gov (United States)

    ... Or In Memory Of Obituaries Contact Us Donate Sjogren-Larsson Syndrome What causes SLS? SLS is caused by mutations ... methods of diagnosing SLS. Other Clinical Names for Sjogren-Larsson Syndrome Other clinical names of Sjogren-Larsson Syndrome include: ...

  18. Redefining syndromic surveillance

    Directory of Open Access Journals (Sweden)

    Rebecca Katz

    2011-12-01

    Full Text Available With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field’s capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries.

  19. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  20. Sjögren syndrome

    Science.gov (United States)

    Xerostomia - Sjögren syndrome; Keratoconjunctivitis sicca - Sjögren; Sicca syndrome ... The cause of Sjögren syndrome is unknown. It is an autoimmune disorder. This means the body attacks healthy tissue by mistake. The syndrome occurs most ...

  1. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the body's ... bones , blood vessels, and organs. What Causes Marfan Syndrome? Marfan syndrome happens because of an abnormality in one ...

  2. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome).

    Science.gov (United States)

    Kiran, N K; Tilak Raj, T N; Mukunda, K S; Rajashekar Reddy, V

    2012-10-01

    The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

  3. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    N K Kiran

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS, is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

  4. ``Battered child`` syndrome; Das ``Battered-Child``-Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Elsner, K.; Merk, J.; Sokiranski, R. [Ulm Univ. (Germany). Abt. Diagnostische Radiologie

    1997-10-01

    Synonyms for the `battered child` syndrome (BCS) are terms describing the physical and body aspects of the process, such as `child abuse`, or `non-accidental injury`. These are to be distinguished from the psychic aspects and abuse, emotional and bodily neglect, and sexual abuse. Most cases are one or another combination of these aspects. Radiology is the essential method for giving proof of such abuses, identifying the signs of maltreatment in a medical record, or for disproving suspected abuse. (orig./AJ) [Deutsch] Als Synonym fuer das `Battered-Child`-Syndrom (BCS) stehen die Begriffe der koerperlichen-/physikalischen-Kindesmisshandlung, im angelsaechsischen Sprachraum die Begriffe `Child Abuse` und `Nonaccidental Injury`. Vom Syndrom abzugrenzen sind die seelische Misshandlung, die seelische und koerperliche Vernachlaessigung, und der sexuelle Missbrauch. Kombinationsformen sind nicht selten. Bei der Diagnostik des Syndroms spielt die Radiologie eine entscheidende Rolle. So hilft der Einsatz adaequater Untersuchungsmethoden, den Tatbestand der Misshandlung zu identifizieren und zu dokumentieren, aber auch einen Verdacht zu widerlegen. (orig./AJ)

  5. Hepatorenal syndrome

    Science.gov (United States)

    ... 2016:chap 153. Nevah MI, Fallon MB. Hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and other systemic complications of liver disease. In: Feldman M, Friedman LS, Brandt LJ, ...

  6. Prevalence of Burnout Syndrome in patients admitted with acute coronary syndrome.

    Science.gov (United States)

    Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

    2015-03-01

    Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp's Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

  7. Turner Syndrome (For Teens)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

  8. Is socioeconomic status of the rearing environment causally related to obesity in the offspring?

    DEFF Research Database (Denmark)

    Fontaine, Kevin R; Robertson, Henry T; Holst, Claus

    2011-01-01

    Adoptees and Their Families (HOLT). In CASO, the SES of both biological and adoptive parents was known, but all children were adopted. In HOLT, only the SES of the rearing parents was known, but the children could be either biological or adopted. After controlling for relevant covariates (e.g., adoptee age......We attempt to elucidate whether there might be a causal connection between the socioeconomic status (SES) of the rearing environment and obesity in the offspring using data from two large-scale adoption studies: (1) The Copenhagen Adoption Study of Obesity (CASO), and (2) The Survey of Holt...... at measurement, adoptee age at transfer, adoptee sex) the raw (unstandardized) regression coefficients for adoptive and biological paternal SES on adoptee body mass index (BMI: kg/m(2)) in CASO were -.22 and -.23, respectively, both statistically significant (p¿=¿0.01). Controlling for parental BMI (both...

  9. DIDMOAD (Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Masoud Nashibi

    2016-07-01

    Full Text Available Wolfram syndrome was first described by physician D J Wolfram and Wagener in 1938. This autosomal recessive syndrome is also referred to as DIDMOAD syndrome which stands for Diabetes Insipidus, Insulin Dependent Diabetes Mellitus, Optic Atrophy and Deafness

  10. [The Capgras syndrome].

    Science.gov (United States)

    Anikina, M A; Levin, O S

    2013-01-01

    The Capgras syndrome is one of delusional-like misidentification syndrome in which a person holds a delusion that one or several his/her friends or relatives have been replaced by an identical-looking impostor. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views. Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia.

  11. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  12. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf

    2011-01-01

    Full Text Available 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.

  13. Interstitial Cystitis/Painful Bladder Syndrome and Associated Medical Conditions With an Emphasis on Irritable Bowel Syndrome, Fibromyalgia and Chronic Fatigue Syndrome

    DEFF Research Database (Denmark)

    Nickel, J.C.; Tripp, D.A.; Pontari, M.

    2010-01-01

    of associated conditions increased (ie localized, regional, systemic), pain, stress, depression and sleep disturbance increased while social support, sexual functioning and quality of life deteriorated. Anxiety and catastrophizing remained increased in all groups. Symptom duration was associated......Purpose: We characterized and compared the impact of clinical phenotypic associations between interstitial cystitis/painful bladder syndrome and controls in relation to potentially related conditions, particularly irritable bowel syndrome, fibromyalgia and chronic fatigue syndrome. Materials...... cystitis/painful bladder syndrome vs controls was irritable bowel syndrome 38.6% vs 5.2%, fibromyalgia 17.7% vs 2.6% and chronic fatigue syndrome 9.5% vs 1.7% (all p

  14. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried

    2006-09-01

    Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  15. Peter in the Gospel of Mark and in Early Christianity in Rome

    DEFF Research Database (Denmark)

    Willert, Niels

    1997-01-01

    Artiklen gennemgår Markusevangeliets portræt af apostlen Peter og drøfter spørgsmålet, hvorfor Peter er så negativt skildret hos Markus. Litterære og pædagogiske (indirekte formaning til datidens kristne) intentioner forklarer først og fremmest dette træk hos Markus. Men også historiske spørgsmål...

  16. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

  17. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome , which are caused by mutations in related genes. ...

  18. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra

    2013-01-01

    Full Text Available Abstract 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 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.

  19. Wolfram syndrome 1 and Wolfram syndrome 2.

    Science.gov (United States)

    Rigoli, Luciana; Di Bella, Chiara

    2012-08-01

    Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.

  20. Interaction Between Syndromic and Non-Syndromic Factors Affecting Speech and Language Development in Treacher-Collins Syndrome

    Directory of Open Access Journals (Sweden)

    Marziyeh Poorjavad

    2011-09-01

    Full Text Available Background: Treacher-Collins syndrome is a congenital craniofacial disorder with multiple anomalies. This syndrome affects the maxilla, mandible, eyes, middle and outer ears, and soft palate. Conductive hearing loss due to the deformities of the middle and external ears is prevalent. The characteristics of this syndrome include multiple and serious threats to normal communication development in children. In this study, speech and language features of a Persian speaking child with this syndrome are presented.Case: The case was an 8-year old girl with Treacher-Collins syndrome and bilateral moderate conductive hearing loss due to atretic canal. In language and speech assessments, moderate hypernasality, numerous compensatory errors and morphosyntactic deficits were observed. There were 13 phonemes that were incorrectly produced at least in one position. Besides, she used 22 types of phonological processes that were abnormal and disappear before the age of three in normal Persian speaking children.Conclusion: Moderate hearing loss, velopharyngeal incompetency, malocclusion and dental anomalies, attention deficit/hyperactivity disorder (ADHD and environmental factors resulted in severe speech and language disorders in this case. These disorders affected her academic performance as well. Moderate hypernasality, numerous compensatory errors, and excessive and abnormal use of phonological processes were not presented as prevalent characteristics of Treacher-Collins syndrome in other resources.

  1. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  2. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  3. Pendred Syndrome

    Science.gov (United States)

    ... other possible long-term consequences of the syndrome. Children with Pendred syndrome should start early treatment to gain communication skills, such as learning sign language or cued speech or learning to ...

  4. Unusual headache syndromes.

    Science.gov (United States)

    Queiroz, Luiz P

    2013-01-01

    Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. They may not actually be uncommon but rather under-recognized and/or underreported. A literature review of unusual headache syndromes, searching PubMed and ISI Web of Knowledge, was performed. After deciding which disorders to study, relevant publications in scientific journals, including original articles, reviews, meeting abstracts, and letters or correspondences to the editors were searched. This paper reviewed the clinical characteristics, the pathogenesis, the diagnosis, and the treatment of five interesting and unusual headache syndromes: exploding head syndrome, red ear syndrome, neck-tongue syndrome, nummular headache, and cardiac cephalgia. Recognizing some unusual headaches, either primary or secondary, may be a challenge for many non-headache specialist physicians. It is important to study them because the correct diagnosis may result in specific treatments that may improve the quality of life of these patients, and this can even be life saving. © 2013 American Headache Society.

  5. Burnout Syndrome of Teachers

    OpenAIRE

    Semrádová, Michaela

    2013-01-01

    The bachelor's thesis covers burnout syndrome of teachers. Defines burnout syndrome, describes its causes and symptoms. Describes teaching as helping profession and focousing on stressful situations at school. In the last chapter described different prevention strategies burnout syndrome. Key words: burnout syndrome, teaching, teacher, helping professions, beginning teacher, stress

  6. Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Cláudia Giaxa Prosdócimo

    2015-03-01

    Full Text Available Background: Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS. Objective: To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Methods: Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI, which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE, emotional distancing (EmD, dehumanization (De and professional fulfillment (PF. The Lipp’s Stress Symptoms Inventory for Adults (LSSI was applied to evaluate global stress. Results: Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. Conclusion: We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

  7. "Nine" syndrome: A new neuro-ophthalmologic syndrome: Report of two cases

    Directory of Open Access Journals (Sweden)

    Rohan R Mahale

    2015-01-01

    Full Text Available "Eight-and-a-half" syndrome is a rare condition involving the ipsilateral abducens nucleus or paramedian pontine reticular formation (PPRF, the ipsilateral medial longitudinal fasciculus (MLF, and the adjacent facial colliculus/facial nerve fascicle. The condition is often caused by a lesion (vascular or demyelinating in the dorsal tegmentum of the caudal pons. There are new variants of this syndrome caused by extension of lesion to involve new adjacent structures in pontine tegmentum. We report two patients with different etiology presenting with clinical features suggestive of eight-and-a-half syndrome associated with hemiataxia representing "nine" syndrome (8– + – = 9 adding new dimension to "eight-and-a-half" syndrome.

  8. Mobius syndrome redefined: a syndrome of rhombencephalic maldevelopment.

    NARCIS (Netherlands)

    Verzijl, H.T.F.M.; Zwaag, A. van der; Cruysberg, J.R.M.; Padberg, G.W.A.M.

    2003-01-01

    OBJECTIVE: To investigate the variable clinical picture of Mobius syndrome (MIM no. 157900) and to further understand the pathogenesis of the disorder. METHODS: A standardized questionnaire was submitted to 37 Dutch patients with Mobius syndrome. All underwent standardized neurologic examination

  9. Bartter syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

  10. Dravet Syndrome

    Science.gov (United States)

    ... and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related ... Publications Definition Dravet ...

  11. Genetics Home Reference: Marfan syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Marfan syndrome Marfan syndrome Printable PDF Open All Close All Enable Javascript ... Marfan syndrome KidsHealth from Nemours Foundation MalaCards: marfan syndrome Orphanet: Marfan syndrome Your Genes Your Health from Cold Spring ...

  12. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    Science.gov (United States)

    Choi, Intae

    2017-01-01

    The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  13. Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Shukla Umesh

    2010-11-01

    Full Text Available Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. Conclusion In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

  14. Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.

    Science.gov (United States)

    Goyal, Deepak; Yadav, Dinesh K; Shukla, Umesh; Sethi, Sidharth K

    2010-11-08

    We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

  15. Linguatula serrata in Swedish reindeer (Rangifer tarandus L

    Directory of Open Access Journals (Sweden)

    Claes Rehbinder

    1982-05-01

    Full Text Available A high prevalence (24,2% of the tongue-worm Lingutula serrata was found in reindeer yearlings. Apparently the high incidence found in this material indicates that the parasite is well adapted to reindeer; the reaction of the nasal mucosa is very mild. The abscence of clinical manifestations and the hidden localization in sinuses which are rarely inspected at slaughter or autopsy is most probably the reason why L. serrata is seldom observed.Tungmask (Linguatula serrata hos svensk skogsren.Abstract in Swedish / Sammandrag: En hög frekvens(24,2% av tungmask (Linguatula serrata påvisades hos årskalv av skogsren. Den ringa våvnadsreaktion som forelag antyder att L serrata troligen ar val anpassad till ren. Att endast ett fåtal rapporter om forekomst av L serrata hos ren foreligger torde bero på att parasiten inte ger några kliniska symptom samt dess i huvudsak gomda lokalisation i overkåkshåligheterna vilka sållan inspekteras vid slakt eller obduktion. L serrata år dårfor sannolikt vanligare hos svenska renar ån man tidigare antagit.

  16. Intermediate states in quantum cryptography and Bell inequalities

    International Nuclear Information System (INIS)

    Bechmann-Pasquinucci, H.; Gisin, N.

    2003-01-01

    Intermediate states are known from intercept/resend eavesdropping in the Bennett-Brassard 1984 (BB84) quantum cryptographic protocol. But they also play fundamental roles in the optimal eavesdropping strategy on the BB84 protocol and in the CHSH (Clauser-Horne-Shimony-Holt) inequality. We generalize the intermediate states to an arbitrary dimension and consider intercept/resend eavesdropping, optimal eavesdropping on the generalized BB84 protocol and present a generalized Clauser-Horne-Shimony-Holt inequality for two entangled qudits based on these states

  17. Rett Syndrome

    Science.gov (United States)

    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. ...

  18. Caplan syndrome

    Science.gov (United States)

    ... enable JavaScript. Rheumatoid pneumoconiosis (RP; also known as Caplan syndrome) is swelling (inflammation) and scarring of the ... avoid exposure to inorganic dust. Alternative Names RP; Caplan syndrome; Pneumoconiosis - rheumatoid; Silicosis - rheumatoid pneumoconiosis; Coal worker's ...

  19. Sotos Syndrome

    Science.gov (United States)

    ... Clinical Trials Organizations Publications Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ... have also been reported. × Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ...

  20. Chronic exertional compartment syndrome with medial tibial stress syndrome in twins.

    Science.gov (United States)

    Banerjee, Purnajyoti; McLean, Christopher

    2011-06-14

    Chronic exertional compartment syndrome and medial tibial stress syndrome are uncommon conditions that affect long-distance runners or players involved in team sports that require extensive running. We report 2 cases of bilateral chronic exertional compartment syndrome, with medial tibial stress syndrome in identical twins diagnosed with the use of a Kodiag monitor (B. Braun Medical, Sheffield, United Kingdom) fulfilling the modified diagnostic criteria for chronic exertional compartment syndrome as described by Pedowitz et al, which includes: (1) pre-exercise compartment pressure level >15 mm Hg; (2) 1 minute post-exercise pressure >30 mm Hg; and (3) 5 minutes post-exercise pressure >20 mm Hg in the presence of clinical features. Both patients were treated with bilateral anterior fasciotomies through minimal incision and deep posterior fasciotomies with tibial periosteal stripping performed through longer anteromedial incisions under direct vision followed by intensive physiotherapy resulting in complete symptomatic recovery. The etiology of chronic exertional compartment syndrome is not fully understood, but it is postulated abnormal increases in intramuscular pressure during exercise impair local perfusion, causing ischemic muscle pain. No familial predisposition has been reported to date. However, some authors have found that no significant difference exists in the relative perfusion, in patients, diagnosed with chronic exertional compartment syndrome. Magnetic resonance images of affected compartments have indicated that the pain is not due to ischemia, but rather from a disproportionate oxygen supply versus demand. We believe this is the first report of chronic exertional compartment syndrome with medial tibial stress syndrome in twins, raising the question of whether there is a genetic predisposition to the causation of these conditions. Copyright 2011, SLACK Incorporated.

  1. Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

    Science.gov (United States)

    Choi, Jin-Ho; Oh, Moon-Yeon; Yum, Mi-Sun; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

    2015-03-01

    Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. A 6-year-old girl was diagnosed with Noonan-like syndrome with loose anagen hair because of profound short stature and ectodermal anomalies such as sparse and easily pluckable hair. A heterozygous mutation of c.4A>G (p.S2G) in the SHOC2 gene was identified, and recombinant human growth hormone therapy was initiated at 8 years of age. At age 10, she manifested recurrent left hemiplegia. Moreover, cerebrovascular imaging revealed occlusion or narrowing of both internal carotid arteries and both middle cerebral arteries with distal moyamoya-like vessels. She is treated with aspirin and calcium channel blocker. We describe the first case of Noonan-like syndrome with loose anagen hair associated with moyamoya syndrome, although it has been reported to be associated with a few cases of other RASopathies, including Noonan, cardiofaciocutaneous, and Costello syndromes. This report emphasizes the associations between cerebrovascular anomalies and Noonan-like syndrome with loose anagen hair. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Abdominal vascular syndromes: characteristic imaging findings

    International Nuclear Information System (INIS)

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

    2016-01-01

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

  3. Abdominal vascular syndromes: characteristic imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D' Ippolito, Giuseppe, E-mail: leandrocleite@gmail.com [Universidade Federal de Sao Paulo (EPM/UNIFESP), Sao Paulo, SP (Brazil). Escola Paulista de Mediciana. Departmento de Diagnostico por Imagem

    2016-07-15

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

  4. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  5. Usher Syndrome

    Science.gov (United States)

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

  6. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions ... agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  7. Reye Syndrome

    Science.gov (United States)

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  8. Turner Syndrome

    Science.gov (United States)

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

  9. Apert syndrome (acrocephalosyndactyly

    Directory of Open Access Journals (Sweden)

    Milovanović J.

    2014-01-01

    Full Text Available Apert syndrome is named for the French physician, Eugen Apert who was, in 1906. described anomalous shape of the skull with coronary suture synostosis and hypoplasia sphenoethmoidmaxillary part of the face and fingers syndactyly of hands and feet. Apert syndrome accounts for about 4,5% of all craniosynostosis. With the prevalence of 1:160 000-200 000, inherited in an autosomal domi­nant, and in 25% of cases are fresh mutations in the gene. This syndrome has no predilection by gender and race, varies in severity form in witch it is manifested. Anomality of internal organs are very rare, but half of the patients with this syndrome have mental retardation. Apert syndrome has no cure, but surgery can help to correct some of the problems.

  10. Coexistent Brugada Syndrome and Wolff-Parkinson-White Syndrome: What is the Optimal Management?

    Directory of Open Access Journals (Sweden)

    Abhishek Jaiswal, MBBS

    2013-09-01

    Full Text Available Coexistent Brugada syndrome and Wolff-Parkinson-White (WPW syndrome is rare, and as such poses management challenges. The overlap of symptoms attributable to each condition, the timing of ventricular stimulation after accessory pathway ablation and the predictive value of programmed stimulation in Brugada syndrome are controversial. We describe a case of coexistent Brugada syndrome and WPW syndrome in a symptomatic young adult. We discuss our treatment approach and the existing literature along with the challenges in management of such cases.

  11. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S

    2010-01-01

    Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

  12. Patient-Reported Outcome questionnaires for hip arthroscopy: a systematic review of the psychometric evidence

    Science.gov (United States)

    2011-01-01

    Background Hip arthroscopies are often used in the treatment of intra-articular hip injuries. Patient-reported outcomes (PRO) are an important parameter in evaluating treatment. It is unclear which PRO questionnaires are specifically available for hip arthroscopy patients. The aim of this systematic review was to investigate which PRO questionnaires are valid and reliable in the evaluation of patients undergoing hip arthroscopy. Methods A search was conducted in Pubmed, Medline, CINAHL, the Cochrane Library, Pedro, EMBASE and Web of Science from 1931 to October 2010. Studies assessing the quality of PRO questionnaires in the evaluation of patients undergoing hip arthroscopy were included. The quality of the questionnaires was evaluated by the psychometric properties of the outcome measures. The quality of the articles investigating the questionnaires was assessed by the COSMIN list. Results Five articles identified three questionnaires; the Modified Harris Hip Score (MHHS), the Nonarthritic Hip Score (NAHS) and the Hip Outcome Score (HOS). The NAHS scored best on the content validity, whereas the HOS scored best on agreement, internal consistency, reliability and responsiveness. The quality of the articles describing the HOS scored highest. The NAHS is the best quality questionnaire. The articles describing the HOS are the best quality articles. Conclusions This systematic review shows that there is no conclusive evidence for the use of a single patient-reported outcome questionnaire in the evaluation of patients undergoing hip arthroscopy. Based on available psychometric evidence we recommend using a combination of the NAHS and the HOS for patients undergoing hip arthroscopy. PMID:21619610

  13. Molecular cloning and expression analysis of KIN10 and cold-acclimation related genes in wild banana 'Huanxi' (Musa itinerans).

    Science.gov (United States)

    Liu, Weihua; Cheng, Chunzhen; Lai, Gongti; Lin, Yuling; Lai, Zhongxiong

    2015-01-01

    Banana cultivars may experience chilling or freezing injury in some of their cultivated regions, where wild banana can still grow very well. The clarification of the cold-resistant mechanism of wild banana is vital for cold-resistant banana breeding. In this study, the central stress integrator gene KIN10 and some cold-acclimation related genes (HOS1 and ICE1s) from the cold-resistant wild banana 'Huanxi' (Musa itinerans) were cloned and their expression patterns under different temperature treatments were analyzed. Thirteen full-length cDNA transcripts including 6 KIN10s, 1 HOS1 and 6 ICE1s were successfully cloned. Quantitative real-time PCR (qRT-PCR) results showed that all these genes had the highest expression levels at the critical temperature of banana (13 °C). Under chilling temperature (4 °C), the expression level of KIN10 reduced significantly but the expression of HOS1 was still higher than that at the optimal temperature (28 °C, control). Both KIN10 and HOS1 showed the lowest expression levels at 0 °C, the expression level of ICE1, however, was higher than control. As sucrose plays role in plant cold-acclimation and in regulation of KIN10 and HOS1 bioactivities, the sucrose contents of wild banana under different temperatures were detected. Results showed that the sucrose content increased as temperature lowered. Our result suggested that KIN10 may participate in cold stress response via regulating sucrose biosynthesis, which is helpful in regulating cold acclimation pathway in wild banana.

  14. Metabolic syndrome and the risk of adverse cardiovascular events after an acute coronary syndrome.

    Science.gov (United States)

    Cavallari, Ilaria; Cannon, Christopher P; Braunwald, Eugene; Goodrich, Erica L; Im, KyungAh; Lukas, Mary Ann; O'Donoghue, Michelle L

    2018-05-01

    Background The incremental prognostic value of assessing the metabolic syndrome has been disputed. Little is known regarding its prognostic value in patients after an acute coronary syndrome. Design and methods The presence of metabolic syndrome (2005 International Diabetes Federation) was assessed at baseline in SOLID-TIMI 52, a trial of patients within 30 days of acute coronary syndrome (median follow-up 2.5 years). The primary endpoint was major coronary events (coronary heart disease death, myocardial infarction or urgent coronary revascularization). Results At baseline, 61.6% ( n = 7537) of patients met the definition of metabolic syndrome, 34.7% (n = 4247) had diabetes and 29.3% had both ( n = 3584). The presence of metabolic syndrome was associated with increased risk of major coronary events (adjusted hazard ratio (adjHR) 1.29, p metabolic syndrome was numerically but not significantly associated with the risk of major coronary events (adjHR 1.13, p = 0.06). Conversely, diabetes was a strong independent predictor of major coronary events in the absence of metabolic syndrome (adjHR 1.57, p metabolic syndrome identified patients at highest risk of adverse outcomes but the incremental value of metabolic syndrome was not significant relative to diabetes alone (adjHR 1.07, p = 0.54). Conclusions After acute coronary syndrome, diabetes is a strong and independent predictor of adverse outcomes. Assessment of the metabolic syndrome provides only marginal incremental value once the presence or absence of diabetes is established.

  15. Foderstater för ökad konsumtion av vallfoder

    DEFF Research Database (Denmark)

    Hetta, M.; Lund, Peter; Tahir, M.N.

    2011-01-01

    nedbrytningen från våmmen till tunntarmen. Nedbrytning av stärkelse i tunntarmen leder till högre energieffektivitet i ämnesomsättningen. Stärkelse hos korn (Hordeum Vulgare, L) anses i litteraturen ha en snabb omsättning i våmmen och stärkelse hos majs (Zea Mays, L) anses ha en långsam nedbrytning (Mills et al...

  16. Forsegling af okklusal dentincaries i permanente molarer

    DEFF Research Database (Denmark)

    Qvist, Vibeke; Borum, Mette Kit; Dynes Møller, Kirsten

    2017-01-01

    Der findes ingen eksakte tal for forekomsten af fødevareallergi i den danske befolkning. Den kumulerede forekomst af fødevareallergi hos børn i de første tre leveår skønnes at være på 7-8 %, hvoraf hovedparten vokser sig fra det. Punktprævalensen af diagnosticeret fødevareallergi hos voksne er 3 ...

  17. Wall Street som kreationistisk forkynder

    DEFF Research Database (Denmark)

    Ekman, Susanne

    2016-01-01

    Artiklen gennemgår Karen Hos etnografi om Wall Street: "Liquidated: An ethnography of Wall Street" set i lyset af den offentlige debat vedrørende Goldman Sachs opkøb af Dong......Artiklen gennemgår Karen Hos etnografi om Wall Street: "Liquidated: An ethnography of Wall Street" set i lyset af den offentlige debat vedrørende Goldman Sachs opkøb af Dong...

  18. Unges motivation i udskolingen

    DEFF Research Database (Denmark)

    Pless, Mette; Katznelson, Noemi; Hjort-Madsen, Peder

    Om hvordan de unge i udskolingen skaber lyst og motivation for læring. Med afsnit om hvad motivation er, hvordan den fremmes hos unge og kombineres med et liv udenfor skolen......Om hvordan de unge i udskolingen skaber lyst og motivation for læring. Med afsnit om hvad motivation er, hvordan den fremmes hos unge og kombineres med et liv udenfor skolen...

  19. Statens diagram

    DEFF Research Database (Denmark)

    Thyssen, Ole

    2016-01-01

    Når vi skal følge statens legender, må vi træffe et valg. Hvilket ord skal vi bruge, og var der stater før ordet "stat" kom til verden? Ordet blev brugt i 1500-tallet hos Machiavelli og før det hos Thomas Aquinas, hvor status ikke blot betød "stand", men også et samfunds "tilstand" eller forfatning...

  20. Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea with Underlying Crohn’s Disease

    Directory of Open Access Journals (Sweden)

    Е. А. Roslavtseva

    2015-01-01

    Full Text Available Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial features and hair growth abnormalities, immune disorders. There are data on two patients dealing with tricho-hepato-enteric syndrome with underlying Crohn’s disease. This is the first description of cases of aggravated tricho-hepatoenteric syndrome ever found in Russian medical literature. 

  1. A new familial intrauterine growth retardation syndrome the "3-M syndrome".

    Science.gov (United States)

    Spranger, J; Opitz, J M; Nourmand, A

    1976-09-01

    Two pairs of siblings are described with proportionate dwarfism due to skeletal hypoplasia of prenatal onset. The head size was normal for age and disproportionately large for height. The patients had a characteristic face different from that seen in the Silver-Russell syndrome. The family data are in accordance with autosomal recessive inheritance. In spite of some similarities, the bulk of clinical and genetic evidence suggests that the described intrauterine growth retardation syndrome is different from the Silver-Russell syndrome and presents an apparently "new" entity which has been designated 3-M syndrome.

  2. Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

    Science.gov (United States)

    Raaijmakers, R; Noordam, C; Noonan, J A; Croonen, E A; van der Burgt, C J A M; Draaisma, J M T

    2008-12-01

    Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis deviation, abnormal R/S ratio over the left precordium, and an abnormal Q wave. The objective of this study was to determine if these ECG characteristics are an independent feature of the Noonan syndrome or if they are related to the congenital heart defect. A cohort study was performed with 118 patients from two university hospitals in the United States and in The Netherlands. All patients were diagnosed with definite Noonan syndrome and had had an ECG and echocardiography. Sixty-nine patients (58%) had characteristic abnormalities of the ECG. In the patient group without a cardiac defect (n = 21), ten patients had a characteristic ECG abnormality. There was no statistical relationship between the presence of a characteristic ECG abnormality and the presence of a cardiac defect (p = 0.33). Patients with hypertrophic cardiomyopathy had more ECG abnormalities in total (p = 0.05), without correlation with a specific ECG abnormality. We conclude that the ECG features in patients with Noonan syndrome are characteristic for the syndrome and are not related to a specific cardiac defect. An ECG is very useful in the diagnosis of Noonan syndrome; every child with a Noonan phenotype should have an ECG and echocardiogram for evaluation.

  3. Brain-hepato-renal syndrome (Zellweger syndrome). Report of two cases and a review of the syndrome

    International Nuclear Information System (INIS)

    Ruiz, T.; Caparros, C.; Blanco, A.; Lopez, A.M.

    1997-01-01

    Cerebro-hepato-renal syndrome is a rare disorder that is transmitted by autosomal recessive inheritance. Children with this syndrome present mongoloid facies and severe muscle hypotonic at birth. Scimitar-like knee calcifications are considered a pathognomonic feature of this disorder. We present two patients with Zellweger syndrome, according to the diagnosis suggested by our Radiodiagnostic Service. Our objective is to stress the importance of the radiological findings, which in many cases are decisive in establishing the definitive diagnosis. (Author) 10 refs

  4. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    Directory of Open Access Journals (Sweden)

    Intae Choi

    2017-08-01

    Full Text Available The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea’s metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  5. Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

    Science.gov (United States)

    Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

    2012-01-01

    The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

  6. Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

    Science.gov (United States)

    Roma, Maria; Marden, Colleen L; De Wandele, Inge; Francomano, Clair A; Rowe, Peter C

    2018-03-05

    To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research. We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance. We identified 10 relevant papers. Although methodological variability between studies introduces some limitations, the published literature consistently identifies a significantly higher prevalence of orthostatic intolerance symptoms in patients with joint hypermobility or Ehlers-Danlos syndrome than in healthy controls, and a significantly higher prevalence of cardiovascular and autonomic abnormalities both at rest and during orthostatic challenge. Postural tachycardia syndrome is the most commonly recognized circulatory disorder. The severity of orthostatic symptoms in those with EDS correlates with impairments in quality of life. There is a strong association between several forms of cardiovascular dysfunction, most notably postural tachycardia syndrome, and joint hypermobility or Ehlers-Danlos syndrome. We propose that recognition of joint hypermobility and Ehlers-Danlos syndrome among those with orthostatic intolerance syndromes has the potential to improve clinical care and the validity of research findings. Copyright © 2018 Elsevier B.V. All rights reserved.

  7. Gardner's syndrome

    International Nuclear Information System (INIS)

    Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

    1988-01-01

    A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

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

    Science.gov (United States)

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

    2017-11-01

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

  9. Development of Instrumental ORAM System for Radiation Dosimetry

    International Nuclear Information System (INIS)

    Bogard, J.S.; Cullum, B.M.; Mobley, J.; Moscovitch, M.; Vo-Dinh, T.

    1999-01-01

    The development of an optical-based dosimeter for neutrons and heavy charged particles is described. It is based on the use of three dimensional (3-D) optical memory materials, used in optical computing applications, and multiphoton fluorescence of photochromic dyes. Development and characterization of various types of dosimeter materials are described as well as the optical readout system. In addition, various excitation geometries for ''reading'' and ''writing'' to the optical memories are also discussed

  10. High Speed Oblivious Random Access Memory (HS-ORAM)

    Science.gov (United States)

    2015-09-01

    traditional wisdom suggests that deploying trusted hardware is generally feasible only for specialized operations in niche- markets such as banking...limits the throughput of inbound documents at indexing time where heaving indexing work is performed on each individual keyword/document combination

  11. Drug treatment of metabolic syndrome.

    Science.gov (United States)

    Altabas, Velimir

    2013-08-01

    The metabolic syndrome is a constellation of risk factors for cardiovascular diseases including: abdominal obesity, a decreased ability to metabolize glucose (increased blood glucose levels and/or presence of insulin resistance), dyslipidemia, and hypertension. Patients who have developed this syndrome have been shown to be at an increased risk of developing cardiovascular disease and/or type 2 diabetes. Genetic factors and the environment both are important in the development of the metabolic syndrome, influencing all single components of this syndrome. The goals of therapy are to treat the underlying cause of the syndrome, to reduce morbidity, and to prevent complications, including premature death. Lifestyle modification is the preferred first-step treatment of the metabolic syndrome. There is no single effective drug treatment affecting all components of the syndrome equally known yet. However, each component of metabolic syndrome has independent goals to be achieved, so miscellaneous types of drugs are used in the treatment of this syndrome, including weight losing drugs, antidiabetics, antihypertensives, antilipemic and anticlothing drugs etc. This article provides a brief insight into contemporary drug treatment of components the metabolic syndrome.

  12. Numerical Magnitude Processing Impairments in Genetic Syndromes: A Cross-Syndrome Comparison of Turner and 22Q11.2 Deletion Syndromes

    Science.gov (United States)

    Brankaer, Carmen; Ghesquière, Pol; De Wel, Anke; Swillen, Ann; De Smedt, Bert

    2017-01-01

    Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion…

  13. Neonatal bartter syndrome

    International Nuclear Information System (INIS)

    Parkash, J.; Salat, S. M.; Khan, I.A.

    2006-01-01

    A pre-term baby girl was born following a pregnancy complicated by severe polyhydramnios at a gestational age of 36 weeks. She was initially suffering from respiratory distress consistent with idiopathic respiratory distress syndrome, and altered electrolyte imbalance with hyponatremia, hypokalemia and hypochloremic metabolic alkalosis. However, during the third week of life when she had dehydration along with significant electrolyte imbalance, Bartter's syndrome was considered which was supported by findings of high renin and aldosterone levels. Treatment was done by correction of electrolytes and dehydration along with indomethacin. The drug was well tolerated. The infant showed correction of electrolyte imbalance. The features of this case suggest an extreme form of Bartter's syndrome presenting from the early days of life. The syndrome is reported because of it's rarity and alerts pediatricians to the antenatal and neonatal variant of Bartter's syndrome. (author)

  14. Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

    Directory of Open Access Journals (Sweden)

    Irene Berges-Raso

    2017-09-01

    Full Text Available Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS. Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m and weight (BMI: 29.6 kg/m2, microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon.

  15. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs ...

  16. Dress syndrome with sepsis, acute respiratory distress syndrome and pneumomediastinum

    Directory of Open Access Journals (Sweden)

    Prabhas Prasun Giri

    2011-01-01

    Full Text Available Drug rash with eosinophilia and systemic symptoms (DRESS syndrome reflects a serious hypersensitivity reaction to drugs, and is characterized by skin rash, fever, lymph node enlargement, and internal organ involvement. So far, numerous drugs such as sulfonamides, phenobarbital, sulfasalazine, carbamazepine, and phenytoin have been reported to cause DRESS syndrome. We report a case of a 10-year-old girl who developed clinical manifestations of fever, rash, lymphadenopathy, hypereosinophilia, and visceral involvement (hepatitis and pneumonitis after taking phenobarbital for seizures, with subsequent development of sepsis, acute respiratory distress syndrome (ARDS and spontaneous air leak syndrome (pnemothorax and pneumomediastinum. She was put on steroids and various antibiotics and was ventilated, but ultimately succumbed to sepsis and pulmonary complications.

  17. MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

    Directory of Open Access Journals (Sweden)

    Sheetal Sharda

    2011-01-01

    Full Text Available There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.

  18. Privacy-Preserving Computation with Trusted Computing via Scramble-then-Compute

    OpenAIRE

    Dang Hung; Dinh Tien Tuan Anh; Chang Ee-Chien; Ooi Beng Chin

    2017-01-01

    We consider privacy-preserving computation of big data using trusted computing primitives with limited private memory. Simply ensuring that the data remains encrypted outside the trusted computing environment is insufficient to preserve data privacy, for data movement observed during computation could leak information. While it is possible to thwart such leakage using generic solution such as ORAM [42], designing efficient privacy-preserving algorithms is challenging. Besides computation effi...

  19. Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association.

    Science.gov (United States)

    Khurana, Bhawna Piplani; Khurana, Aruj Kumar; Grover, Sumit

    2015-05-07

    Duane retraction syndrome is characterized by globe retraction and palpebral fissure narrowing on adduction, with restriction of abduction, adduction, or both. Usher syndrome type 2 consists of congenital bilateral sensorineural hearing loss and retinitis pigmentosa. The authors present a case with a yet unreported association between Duane retraction syndrome type 1 and Usher syndrome type 2. Copyright 2015, SLACK Incorporated.

  20. Rare case of nephrotic syndrome: Schimke syndrome.

    Science.gov (United States)

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

    2016-01-01

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

  1. Gorlin-goltz syndrome

    International Nuclear Information System (INIS)

    Ahmed, N.; Salman, M.; Mansoor, M.A.

    2007-01-01

    Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome. Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years. (author)

  2. Cardio-renal syndrome

    OpenAIRE

    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.

  3. Tourette Syndrome

    Science.gov (United States)

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

  4. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...

  5. Sleep overlap syndrome

    Directory of Open Access Journals (Sweden)

    Fariba Rezaeetalab

    2016-12-01

    Full Text Available Overlap syndrome, which is known as the coexistence of chronic obstructive pulmonary disease (COPD and obstructive sleep apnea (OSA, was first defined by Flenley. Although it can refer to concomitant occurrence of any of the pulmonary diseases and OSA, overlap syndrome is commonly considered as the coexistence of OSA and COPD. This disease has unique adverse health consequences distinct from either condition alone. Given the high prevalence of each solitary disease, overlap syndrome is also likely to be common and clinically relevant. Despite the fact that overlap syndrome has been described in the literature for nearly 30 years, paucity of evaluations and studies limited the discussion on diagnosis, prevalence, pathophysiology, treatment, and outcomes of this disease. This review article addresses these issues by reviewing several recent studies conducted in Iran or other countries. This review suggests that overlap syndrome has worse outcomes than either disease alone. Our findings accentuated the urgent need for further studies on overlap syndrome and all overlaps between OSA and chronic pulmonary disease to provide a deeper insight into diagnosis and non-invasive treatments of this disease.

  6. What Causes Cushing's Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Cushing syndrome? Cushing syndrome can develop for two reasons: Medication ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain controls ...

  7. [The refeeding syndrome].

    Science.gov (United States)

    Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

    2015-01-01

    The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

  8. Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

    OpenAIRE

    Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

    2012-01-01

    Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

  9. Relationships among personality traits, metabolic syndrome, and metabolic syndrome scores: The Kakegawa cohort study.

    Science.gov (United States)

    Ohseto, Hisashi; Ishikuro, Mami; Kikuya, Masahiro; Obara, Taku; Igarashi, Yuko; Takahashi, Satomi; Kikuchi, Daisuke; Shigihara, Michiko; Yamanaka, Chizuru; Miyashita, Masako; Mizuno, Satoshi; Nagai, Masato; Matsubara, Hiroko; Sato, Yuki; Metoki, Hirohito; Tachibana, Hirofumi; Maeda-Yamamoto, Mari; Kuriyama, Shinichi

    2018-04-01

    Metabolic syndrome and the presence of metabolic syndrome components are risk factors for cardiovascular disease (CVD). However, the association between personality traits and metabolic syndrome remains controversial, and few studies have been conducted in East Asian populations. We measured personality traits using the Japanese version of the Eysenck Personality Questionnaire (Revised Short Form) and five metabolic syndrome components-elevated waist circumference, elevated triglycerides, reduced high-density lipoprotein cholesterol, elevated blood pressure, and elevated fasting glucose-in 1322 participants aged 51.1±12.7years old from Kakegawa city, Japan. Metabolic syndrome score (MS score) was defined as the number of metabolic syndrome components present, and metabolic syndrome as having the MS score of 3 or higher. We performed multiple logistic regression analyses to examine the relationship between personality traits and metabolic syndrome components and multiple regression analyses to examine the relationship between personality traits and MS scores adjusted for age, sex, education, income, smoking status, alcohol use, and family history of CVD and diabetes mellitus. We also examine the relationship between personality traits and metabolic syndrome presence by multiple logistic regression analyses. "Extraversion" scores were higher in those with metabolic syndrome components (elevated waist circumference: P=0.001; elevated triglycerides: P=0.01; elevated blood pressure: P=0.004; elevated fasting glucose: P=0.002). "Extraversion" was associated with the MS score (coefficient=0.12, P=0.0003). No personality trait was significantly associated with the presence of metabolic syndrome. Higher "extraversion" scores were related to higher MS scores, but no personality trait was significantly associated with the presence of metabolic syndrome. Copyright © 2018 Elsevier Inc. All rights reserved.

  10. SNEDDON’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Valentin Valtchev

    2008-10-01

    Full Text Available Sneddon’s syndrome is usually characterized by the association of an ischemic cerebrovascular disease and a widespread livedo reticularis. The incidence of Sneddon syndrome is 4/1000 000. We present 42-year-old woman with livedo reticularis, recurrence ischaemic cerebrovascular accidents, two repetitive miscarriages and positive anti-2GPi antibodies. Skin biopsy specimens reveal inflammatory changes of small- to medium-sized arteries and subendothelial proliferation and fibrosis. The diagnosis Sneddon syndrome is confirmed by skin biopsy, and MR evidence. We suggest that anti-2GPi antibodies may be pathophysiologically related to the clinical manifestation observed in some patients with Sneddon syndrome.

  11. Sjogren′s Syndrome: A Review

    Directory of Open Access Journals (Sweden)

    Rani Somani

    2011-01-01

    Full Text Available Sjogren′s syndrome, also known as "Mikulicz disease" or "Sicca syndrome" is a systemic autoimmune disease in which immune cells attack and destroy the exocrine glands that produce tears and saliva. It can exist by itself (primary Sjogren syndrome or develop in association with another disorder such as rheumatoid arthritis, systemic sclerosis, primary biliary cirrhosis or Hashimoto thyroiditis (associated Sjogren syndrome. Hallmarks are the dry mouth and dry eyes known as the Sicca syndrome. Sjogren syndrome affects t million to 4 million people in the United States- Most are over 40 years old at the time of diagnosis. As there is no known cure for Sjogren syndrome, treatment focuses on relieving symptoms and preventing complications. The most serious complication associated with primary Sjogren syndrome is the development of a lymphoproliferative disease. primarily non-Hodgkin lymphoma.

  12. The ``eco-syndrome`` and what causes it; Das Oeko-Syndrom`` und seine Ausloeser

    Energy Technology Data Exchange (ETDEWEB)

    Voack, C. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie; Borelli, S. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie; Ring, J. [Technische Univ. Muenchen (Germany). Klinik und Poliklinik fuer Dermatolologie und Allergologie

    1997-01-24

    Headache, tiredness, skin irritation etc. may be the results of adverse effects on health due to toxic substances in residential buildings and at workplaces. Possible causes of syndromes that are hard to objectify but associated with serious afflictions such as the ``eco-syndrome`` or Multiple Chemical Sensitivity (MCS) and the Sick Building Syndrome (SBS) are listed. (VHE) [Deutsch] Bei Kopfschmerzen, Muedigkeit, Hautirritationen u.ae. besteht die Moeglichkeit einer gesundheitlichen Beeintraechtigung durch Schadstoff im Wohn- oder Arbeitsbereich. Moegliche Ausloeser fuer schwer objektivierbare, aber mit hohem Leidensdruck verbundene Krankheitsbilder wie Oeko-Syndrom(Multiple Chemical Sensivity, MCS) und SBS (Sick-Building-Syndrom) werden aufgelistet. (VHE)

  13. [Williams-Beuren syndrome (Williams syndrome). Case report].

    Science.gov (United States)

    Miklós, Györgyi; Fekete, György; Haltrich, Irén; Tóth, Miklós; Reismann, Péter

    2017-11-01

    Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.

  14. The association between the metabolic syndrome and metabolic syndrome score and pulmonary function in non-smoking adults.

    Science.gov (United States)

    Yoon, Hyun; Gi, Mi Young; Cha, Ju Ae; Yoo, Chan Uk; Park, Sang Muk

    2018-03-01

    This study assessed the association of metabolic syndrome and metabolic syndrome score with the predicted forced vital capacity and predicted forced expiratory volume in 1 s (predicted forced expiratory volume in 1 s) values in Korean non-smoking adults. We analysed data obtained from 6684 adults during the 2013-2015 Korean National Health and Nutrition Examination Survey. After adjustment for related variables, metabolic syndrome ( p metabolic syndrome score ( p metabolic syndrome score with metabolic syndrome score 0 as a reference group showed no significance for metabolic syndrome score 1 [1.061 (95% confidence interval, 0.755-1.490)] and metabolic syndrome score 2 [1.247 (95% confidence interval, 0.890-1.747)], but showed significant for metabolic syndrome score 3 [1.433 (95% confidence interval, 1.010-2.033)] and metabolic syndrome score ⩾ 4 [1.760 (95% confidence interval, 1.216-2.550)]. In addition, the odds ratio of restrictive pulmonary disease of the metabolic syndrome [1.360 (95% confidence interval, 1.118-1.655)] was significantly higher than those of non-metabolic syndrome. Metabolic syndrome and metabolic syndrome score were inversely associated with the predicted forced vital capacity and forced expiratory volume in 1 s values in Korean non-smoking adults. In addition, metabolic syndrome and metabolic syndrome score were positively associated with the restrictive pulmonary disease.

  15. Cross Syndrome Comparison of Sleep Problems in Children with Down Syndrome and Williams Syndrome

    Science.gov (United States)

    Ashworth, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara

    2013-01-01

    Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD)…

  16. Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Neeraj Sharma

    2013-01-01

    Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

  17. [Neurobiology of Tourette Syndrome].

    Science.gov (United States)

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

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

  18. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... for This Condition basal cell nevus syndrome BCNS Gorlin-Goltz syndrome NBCCS nevoid basal cell carcinoma syndrome Related Information ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Basal Cell Nevus Syndrome Health Topic: Skin Cancer Genetic and Rare Diseases ...

  19. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Genetic Testing Registry: Rett syndrome Other Diagnosis and Management Resources (4 links) Boston Children's Hospital GeneReview: MECP2-Related Disorders MedlinePlus Encyclopedia: Rett Syndrome RettSyndrome.org: Rett Syndrome Clinics General Information from MedlinePlus (5 links) Diagnostic Tests ...

  20. [Menopause and metabolic syndrome].

    Science.gov (United States)

    Meirelles, Ricardo M R

    2014-03-01

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

  1. Vaccine mod halthed testes i besætning

    DEFF Research Database (Denmark)

    Lauritsen, Klara Tølbøll

    2012-01-01

    Ny vaccine mod ledbetændelse forårsaget af Mycoplasma hyosynoviae testes nu hos 200 svin i en problembesætning. Håbet er færre halte svin og en nedbringelse af antibiotikaforbruget.......Ny vaccine mod ledbetændelse forårsaget af Mycoplasma hyosynoviae testes nu hos 200 svin i en problembesætning. Håbet er færre halte svin og en nedbringelse af antibiotikaforbruget....

  2. Herbert Marcuse

    DEFF Research Database (Denmark)

    Dupont, Søren

    2009-01-01

    Artiklen placerer Herbert Marcuse som en kritisk tværvidenskabelig tænker med linier til både Karl Marx og Sigmund Freud. Den utopiske dimension hos Herbert Marcuse præsenteres og diskuteres.......Artiklen placerer Herbert Marcuse som en kritisk tværvidenskabelig tænker med linier til både Karl Marx og Sigmund Freud. Den utopiske dimension hos Herbert Marcuse præsenteres og diskuteres....

  3. DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome

    Science.gov (United States)

    Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

    2018-01-01

    Abstract Rationale: The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. Patient concerns: We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Diagnoses: Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. Intervetions: The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Outcomes: Clinical improvement ensued. At follow-up the patient is well. Lessons: The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities. PMID:29642153

  4. A Cross-Syndrome Study of the Development of Holistic Face Recognition in Children with Autism, Down Syndrome, and Williams Syndrome

    Science.gov (United States)

    Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.; Thomas, Michael S. C.

    2009-01-01

    We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely…

  5. Clinical update on metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Juan Diego Hernández-Camacho

    2017-12-01

    Full Text Available Metabolic syndrome has been defined as a global issue since it affects a lot of people. Numerous factors are involved in metabolic syndrome development. It has been described that metabolic syndrome has negative consequences on health. Consequently, a lot of treatments have been proposed to palliate it such as drugs, surgery or life style changes where nutritional habits have shown to be an important point in its management. The current study reviews the literature existing about the actual epidemiology of metabolic syndrome, the components involucrate in its appearance and progression, the clinical consequences of metabolic syndrome and the nutritional strategies reported in its remission. A bibliographic search in PubMed and Medline was performed to identify eligible studies. Authors obtained that metabolic syndrome is present in population from developed and undeveloped areas in a huge scale. Environmental and genetic elements are involucrate in metabolic syndrome development. Metabolic syndrome exponentially increased risk of cardiovascular disease, some types of cancers, diabetes mellitus type 2, sleep disturbances, etc. Nutritional treatments play a crucial role in metabolic syndrome prevention, treatment and recovery.

  6. Genetics Home Reference: Tourette syndrome

    Science.gov (United States)

    ... and Vocal Tic Disorder Gilles de la Tourette Syndrome Gilles de la Tourette's syndrome GTS TD Tourette Disorder Tourette's Disease TS Related ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Gilles de la Tourette syndrome Health Topic: Tourette Syndrome Genetic and Rare Diseases ...

  7. Comparison of metabolic syndrome with growing epidemic syndrome Z in terms of risk factors and gender differences.

    Science.gov (United States)

    Uyar, Meral; Davutoğlu, Vedat; Aydın, Neriman; Filiz, Ayten

    2013-05-01

    The aim of this study is to compare metabolic syndrome with syndrome Z growing epidemic in terms of risk factors, demographic variables, and gender differences in our large cohort at southeastern area in Turkey. Data of patients admitted to sleep clinic in University of Gaziantep from January 2006 to January 2011 were retrospectively evaluated. ATP III and JNC 7 were used for defining metabolic syndrome and hypertension. Data of 761 patients were evaluated. Hypertension, diabetes mellitus, coronary artery disease, pulmonary hypertension, and left ventricular hypertrophy were more common in patients with syndrome Z than in patients without metabolic syndrome. Age, waist/neck circumferences, BMI, triglyceride, glucose, and Epworth sleepiness scale score were detected higher, whereas the minimum oxygen saturation during sleep was lower in patients with syndrome Z. Metabolic syndrome was more common in sleep apneic subjects than in controls (58 versus 30 %). Female sleep apneics showed higher rate of metabolic syndrome than those of males (74 versus 52 %). Hypertension, diabetes mellitus, coronary artery disease, and left ventricular hypertrophy were detected higher in males with syndrome Z than in males without metabolic syndrome. Snoring and excessive daytime sleepiness were detected higher in females with syndrome Z than in females without metabolic syndrome. Systemic/pulmonary hypertension, diabetes mellitus, and left ventricular hypertrophy were more common in females with syndrome Z than in females without metabolic syndrome. Complaints of headache and systemic/pulmonary hypertension were more common among females than males with syndrome Z. Female syndrome Z patients had lower minimum oxygen saturation than male patients with syndrome Z. Metabolic syndrome in sleep apneic patients is more prevalent than in controls. All metabolic syndrome parameters were significantly different among obstructive sleep apneic patients with respect to gender with more severe

  8. Facts about Down Syndrome

    Science.gov (United States)

    ... monitor children with Down syndrome for these conditions. Treatments Down syndrome is a lifelong condition. Services early in life ... of these services focus on helping children with Down syndrome develop to their ... therapy, and they are typically offered through early intervention ...

  9. LEOPARD-syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Risby, Kirsten; Bygum, Anette

    2009-01-01

    We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD sy...... syndrome. We discuss the clinical characteristics of LS, the need for follow-up and genetic counselling, and the molecular-genetic background as well as the relationship to the allelic disease Noonan syndrome. Udgivelsesdato: 2009-Jan-26......We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD...

  10. [Refeeding syndrome].

    Science.gov (United States)

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

    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.

  11. Efficacy of syndromic management measured as symptomatic improvement in females with vaginal discharge syndrome.

    Science.gov (United States)

    Chauhan, Vidyalaxmi; Shah, Maitri C; Patel, Sangita V; Marfatia, Yogesh S; Zalavadiya, Dhara

    2016-01-01

    In spite of a few shortcomings such as over diagnosis and over treatment, syndromic management is a recommended practice in India for sexually transmitted infections (STIs). This study tries to find out the efficacy of syndromic management measured as symptomatic improvement in females with vaginal discharge syndrome. The objective of the study is to find out the effectiveness of syndromic management in terms of symptomatic improvement among females with vaginal discharge syndrome. A longitudinal study was conducted in Gynecology Department of Tertiary Care Hospital including 180 symptomatic females having vaginal discharge syndrome. Demographic profile, presenting complaints, menstrual history, obstetric history, partner history, and contraceptive history were noted. This was followed by clinical examination and specimen collection for laboratory tests and blood tests to find out type of STI including viral STI such as human immunodeficiency virus (HIV), herpes simplex virus (HSV), and hepatitis B surface antigen (HBsAg). Treatment was given according to syndromic management on the same day. All the participants were asked to come for follow-up after 15 days and their improvement in symptoms was noted as complete improvement, some improvement or no improvement on a five point scale. 63.9% cases showed complete improvement, while 36.1% showed some improvement. None of the patients was without any improvement. Vaginal discharge syndrome was most common between 20 and 30 years (43.4%), and 67.8% of symptomatic females with vaginal discharge syndrome belonged to the lower socioeconomic group. HSV infection was the most common (15%) associated viral infection with vaginal discharge syndrome, while hepatitis B infection was the least common (0.5%). HIV was reactive in 2.8% cases only. Syndromic management was found to be effective in relieving symptoms in most of the cases of vaginal discharge syndrome.

  12. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  13. Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report

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    Hazza Issa

    1999-01-01

    Full Text Available Galloway-Mowat Syndrome (GMS has a wide variety of clinical manifestations and histologic findings. All reported cases had developed nephrotic syndrome in the first two years of life. We report a case of 12 years old boy with microcephaly, mental retardation, and typical dysmorphic features of GMS with a late onset of minimal change nephritic syndrome which first manifested at seven years of age.

  14. Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

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    Metwalley Kotb A

    2008-10-01

    Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  15. Prune belly syndrome in an Egyptian infant with Down syndrome: a case report.

    Science.gov (United States)

    Metwalley, Kotb A; Farghalley, Hekma S; Abd-Elsayed, Alaa A

    2008-10-02

    Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 mumol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  16. Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

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    Mihir Kothari

    2011-01-01

    Full Text Available Marfan syndrome (MFS is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS is a congenital cranial dysinnervation disorder (CCDD which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

  17. Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Young, L.W.; Wilhelm, L.L. [Loma Linda Univ., CA (United States). Medical Center; Zuppan, C.W. [Div. of Pediatric Pathology, Loma Linda University Medical Center, CA (United States); Clark, R. [Div. of Medical Genetics, Loma Linda University Medical Center, CA (United States)

    2001-01-01

    A stillborn baby boy had findings of severe constitutional dwarfism with short limbs, short ribs, and polydactyly that were consistent with Naumoff (type III) short-rib polydactyly syndrome. He also had additional congenital anomalies, including cleft palate, notching of the upper lip, small tongue with accessory sublingual tissue. These oral and pharyngeal anomalies were consistent with Mohr (type II) oral-facial-digital syndrome. We suggest the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II). (orig.)

  18. The Capgras syndrome in paranoid schizophrenia.

    Science.gov (United States)

    Silva, J A; Leong, G B

    1992-01-01

    Capgras syndrome is characterized by a delusion of impostors who are thought to be physically similar but psychologically distinct from the misidentified person. This syndrome is generally thought to be relatively rare. Most of our knowledge about Capgras syndrome derives from single case studies and small series of cases usually from diagnostically heterogeneous groups. In this article, a series of 31 patients suffering from both paranoid schizophrenia and Capgras syndrome is described. Issues pertaining to the phenomenology of Capgras syndrome, the possible relation between Capgras syndrome and other delusional misidentification syndromes, and a neurobiological hypothesis aimed at explaining Capgras syndrome are discussed.

  19. Fahr's Syndrome

    Science.gov (United States)

    ... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...

  20. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  1. Eagle's Syndrome

    Science.gov (United States)

    Pinheiro, Thaís Gonçalves; Soares, Vítor Yamashiro Rocha; Ferreira, Denise Bastos Lage; Raymundo, Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT) of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical. PMID:25992033

  2. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  3. Review of the refeeding syndrome.

    Science.gov (United States)

    Kraft, Michael D; Btaiche, Imad F; Sacks, Gordon S

    2005-12-01

    Refeeding syndrome describes a constellation of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starved or severely malnourished. Patients can develop fluid and electrolyte disorders, especially hypophosphatemia, along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic complications. We reviewed literature on refeeding syndrome and the associated electrolyte abnormalities, fluid disturbances, and associated complications. In addition to assessing scientific literature, we also considered clinical experience and judgment in developing recommendations for prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk for developing refeeding syndrome, institute nutrition support cautiously, and correct and supplement electrolyte and vitamin deficiencies to avoid refeeding syndrome. We provide suggestions for the prevention of refeeding syndrome and suggestions for treatment of electrolyte disturbances and complications in patients who develop refeeding syndrome, according to evidence in the literature, the pathophysiology of refeeding syndrome, and clinical experience and judgment.

  4. Heterogeneity in Waardenburg syndrome.

    Science.gov (United States)

    Hageman, M J; Delleman, J W

    1977-01-01

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

  5. Symptoms and Diagnosis of Metabolic Syndrome

    Science.gov (United States)

    ... Thromboembolism Aortic Aneurysm More Symptoms and Diagnosis of Metabolic Syndrome Updated:Apr 13,2017 What are the symptoms ... Syndrome? This content was last reviewed August 2016. Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  6. Diagnostik af Dravet syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was established rather late in one case. The epilepsies were medically intractable and the symptoms characteristic of Dravet syndrome. The children...

  7. [Bilateral "crocodile tears syndrome" associated with Melkersson-Rosenthal syndrome--case report].

    Science.gov (United States)

    Owecki, Michał K; Kapelusiak-Pielok, Magdalena; Kowal, Piotr; Kozubski, Wojciech

    2006-01-01

    We present a rare case of bilateral crocodile tears syndrome (CTS) in the course of Melkersson-Rosenthal syndrome. Melkersson-Rosenthal syndrome is characterised by a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue. The classic triad is infrequent and oligosymptomatic variants are seen more frequently. CTS is a rare complication of facial nerve paralysis characterised by inappropriate lacrimation on the side of the palsy in response to salivary stimuli. It results from aberrant reinnervation of the lacrimal gland by salivary parasympathetic fibres. The therapeutic approach for an acute bout of Melkersson-Rosenthal syndrome consists mainly of steroid administration. CTS management is composed of anticholinergic drugs and surgical procedures. Botulin toxin injection into the lacrimal gland is the most modern therapeutic option. In the case presented CTS developed in a 50-year-old man after 5 incidents of facial palsy due to Melkersson-Rosenthal syndrome. The case deserves attention due to the rarity of the observed symptoms and signs.

  8. Acute nephritic syndrome

    Science.gov (United States)

    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 in children ...

  9. The impact of autism spectrum disorder symptoms on gesture use in fragile X syndrome and Down syndrome

    Directory of Open Access Journals (Sweden)

    Emily Lorang

    2017-12-01

    Full Text Available Background & aims This study compared gesture rate and purpose in participants with Down syndrome and fragile X syndrome, and the impact of autism spectrum disorder symptoms on each syndrome. Methods Twenty individuals with fragile X syndrome and 20 individuals with Down syndrome between nine and 22 years of age participated in this study. We coded gesture rate and purpose from an autism spectrum disorder evaluation, the Autism Diagnostic Observation Schedule – Second Edition. Results We did not find between-group differences (Down syndrome compared to fragile X syndrome in gesture rate or purpose. Notably, as autism spectrum disorder symptoms increased, the group with Down syndrome produced a lower rate of gestures, but used gestures for the same purpose. Gesture rate did not change based on autism spectrum disorder symptoms in the participants with fragile X syndrome, but as autism spectrum disorder symptoms increased, the participants with fragile X syndrome produced a larger proportion of gestures to regulate behavior and a smaller proportion for joint attention/social interaction. Conclusions Overall, the amount or purpose of gestures did not differentiate individuals with Down syndrome and fragile X syndrome. However, the presence of autism spectrum disorder symptoms had a significant and unique impact on these genetic disorders. In individuals with Down syndrome, the presence of more autism spectrum disorder symptoms resulted in a reduction in the rate of gesturing, but did not change the purpose. However, in fragile X syndrome, the rate of gestures remained the same, but the purpose of those gestures changed based on autism spectrum disorder symptoms. Implications Autism spectrum disorder symptoms differentially impact gestures in Down syndrome and fragile X syndrome. Individuals with Down syndrome and more autism spectrum disorder symptoms are using gestures less frequently. Therefore, clinicians may need to consider children with

  10. Costello syndrome

    Directory of Open Access Journals (Sweden)

    Madhukara J

    2007-01-01

    Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

  11. Application of empirical mode decomposition with local linear quantile regression in financial time series forecasting.

    Science.gov (United States)

    Jaber, Abobaker M; Ismail, Mohd Tahir; Altaher, Alsaidi M

    2014-01-01

    This paper mainly forecasts the daily closing price of stock markets. We propose a two-stage technique that combines the empirical mode decomposition (EMD) with nonparametric methods of local linear quantile (LLQ). We use the proposed technique, EMD-LLQ, to forecast two stock index time series. Detailed experiments are implemented for the proposed method, in which EMD-LPQ, EMD, and Holt-Winter methods are compared. The proposed EMD-LPQ model is determined to be superior to the EMD and Holt-Winter methods in predicting the stock closing prices.

  12. Lederens udfordringer i 2014

    DEFF Research Database (Denmark)

    Holt Larsen, Henrik

    2014-01-01

    Du skal i juleferien forberede dig på disciplinen om at vise tillid, være nærværende på afstand, involvering og løbende reflektere over egen lederudvikling. I artiklen peger professor Henrik Holt Larsen på seks aktuelle ledelsesudfordringer for 2014.......Du skal i juleferien forberede dig på disciplinen om at vise tillid, være nærværende på afstand, involvering og løbende reflektere over egen lederudvikling. I artiklen peger professor Henrik Holt Larsen på seks aktuelle ledelsesudfordringer for 2014....

  13. Primary Sjögren’s Syndrome with Sensory Ganglionopathy and Painful Legs and Moving Toes Syndrome

    Directory of Open Access Journals (Sweden)

    Mehmet Uğur Çevik

    2014-06-01

    Full Text Available Sjogren’s syndrome is characterized by the sicca syndrome, with dryness of the mouth (xerostomia and the eyes (xerophthalmia. Sjogren's syndrome is the only connective tissue disease that has been associated with sensory neuronopathy. The syndrome of painful legs and moving toes consisting of pain in the lower limbs with spontaneous movements of the toes or feet. The association between Sjogren’s syndrome and painful legs and moving toes syndrome is a rare condition

  14. Psychosomatic syndromes and anorexia nervosa

    Directory of Open Access Journals (Sweden)

    Abbate-Daga Giovanni

    2013-01-01

    Full Text Available Abstract Background In spite of the role of some psychosomatic factors as alexithymia, mood intolerance, and somatization in both pathogenesis and maintenance of anorexia nervosa (AN, few studies have investigated the prevalence of psychosomatic syndromes in AN. The aim of this study was to use the Diagnostic Criteria for Psychosomatic Research (DCPR to assess psychosomatic syndromes in AN and to evaluate if psychosomatic syndromes could identify subgroups of AN patients. Methods 108 AN inpatients (76 AN restricting subtype, AN-R, and 32 AN binge-purging subtype, AN-BP were consecutively recruited and psychosomatic syndromes were diagnosed with the Structured Interview for DCPR. Participants were asked to complete psychometric tests: Body Shape Questionnaire, Beck Depression Inventory, Eating Disorder Inventory–2, and Temperament and Character Inventory. Data were submitted to cluster analysis. Results Illness denial (63% and alexithymia (54.6% resulted to be the most common syndromes in our sample. Cluster analysis identified three groups: moderate psychosomatic group (49%, somatization group (26%, and severe psychosomatic group (25%. The first group was mainly represented by AN-R patients reporting often only illness denial and alexithymia as DCPR syndromes. The second group showed more severe eating and depressive symptomatology and frequently DCPR syndromes of the somatization cluster. Thanatophobia DCPR syndrome was also represented in this group. The third group reported longer duration of illness and DCPR syndromes were highly represented; in particular, all patients were found to show the alexithymia DCPR syndrome. Conclusions These results highlight the need of a deep assessment of psychosomatic syndromes in AN. Psychosomatic syndromes correlated differently with both severity of eating symptomatology and duration of illness: therefore, DCPR could be effective to achieve tailored treatments.

  15. The Marfan syndrome genetics

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    Galina Pungerčič

    2005-05-01

    Full Text Available Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems.Conclusions: Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.

  16. A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

    Science.gov (United States)

    Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

    2016-05-01

    In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

  17. Prevalence of dry eye syndrome and Sjogren's syndrome in patients with rheumatoid arthritis.

    Science.gov (United States)

    Kosrirukvongs, Panida; Ngowyutagon, Panotsom; Pusuwan, Pawana; Koolvisoot, Ajchara; Nilganuwong, Surasak

    2012-04-01

    Rheumatoid arthritis has manifestations in various organs including ophthalmic involvement. The present study evaluates prevalence of dry eye and secondary Sjogren's syndrome using salivary scintigraphy which has not been used in previous reports. To evaluate the prevalence of secondary Sjogren's syndrome in patients with rheumatoid arthritis, including clinical characteristics and dry eye, compared with non-Sjogren's syndrome. Descriptive cross sectional study Sixty-one patients with rheumatoid arthritis were recruited at Siriraj Hospital during March 2009-September 2010 and filled in the questionnaires about dry eye for Ocular Surface Disease Index (OSDI) with a history taking of associated diseases, medications, duration of symptoms of dry eyes and dry mouth. The Schirmer I test without anesthesia, tear break-up time, rose bengal staining score, severity of keratitis and salivary scintigraphy were measured and analyzed. Prevalence of secondary Sjogren's syndrome and dry eye were 22.2% (95% CI 15.4 to 30.9) and 46.7% (95% CI 38.0 to 55.6), respectively. Dry eye interpreted from OSDI, Schirmer 1 test, tear break-up time and rose bengal staining was 16.4%, 46.7%, 82% and 3.3% respectively. Fifty-two percent of patients had a history of dry eye and dry mouth with mean duration 27.4 and 29.8 months, respectively. Superficial punctate keratitis and abnormal salivary scintigraphy were found in 58.2% and 77.8%. Duration of rheumatoid arthritis, erythrocyte sedimentation rate were not correlated with secondary Sjogren's syndrome. Dry eye from OSDI with secondary Sjogren's syndrome (33.3%) compared with non-Sjogren's syndrome (9.5%) was significant difference (p = 0.008). Adjusted odds ratio for secondary Sjogren's syndrome in OSDIL score > 25 was 13.8 (95% CI 2.6 to 73.8, p = 0.002) compared to OSDI score dry eye syndrome and secondary Sjogren's syndrome in rheumatoid arthritis was crucial for evaluation of their severity and proper management.

  18. Correlation of RAD51 and radiosensitization of methotrexate

    International Nuclear Information System (INIS)

    Du Liqing; Bai Jianqiang; Liu Qiang; Wang Yan; Zhao Peng; Chen Fenghua; Wang Hong; Fan Feiyue

    2012-01-01

    Objective: To evaluate the correlation between homologous recombination repair protein RAD51 and methotrexate-enhanced radiosensitivity. Methods: Western blot and RT-PCR assays were used to detect RAD51 expression in HOS osteosarcoma cells exposed to γ-ray irradiation alone and in combination with methotrexate. Colony formation assay was used to test the survival fraction of HOS cells exposed to γ-rays and methotrexate. Results: Methotrexate inhibited both protein and RNA expressions of RAD51, and the combination of radiation and methotrexate enhanced the inhibition of RAD51 expression. Moreover, transfection of cells with RAD51 gene decreased cellular sensitivity to methotrexate and γ-rays. The sensitizer enhancement ratios after irradiation in combination with methotrexate were 1.51 and 0.99, respectively. Methotrexate was a preferred radiosensitizer to HOS cell. Conclusions: RAD51 might be involved in the methotrexate-enhanced radiosensitivity. (authors)

  19. Polycystic Ovary Syndrome FAQ

    Science.gov (United States)

    ... Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ... with PCOS? •Glossary What are common signs and symptoms of polycystic ovary syndrome (PCOS)? Common PCOS signs and symptoms include the ...

  20. [Characteristics of traditional Chinese medicine syndromes in patients with acute ischemic stroke of yin or yang syndrome: a multicenter trial].

    Science.gov (United States)

    You, Jin-song; Huang, Yan; Cai, Ye-feng; Guo, Jian-wen; Liang, Wei-xiong; Huang, Pei-xin; Liu, Mao-cai

    2008-04-01

    To explore the composition characteristics of traditional Chinese medicine (TCM) syndromes in patients with acute ischemic stroke of yin or yang syndrome by investigating the characteristics of TCM syndromes at different periods after onset. One thousand two hundred and forty-six patients with acute ischemic stroke were admitted in twenty hospitals. According to the "diagnostic criteria of syndrome differentiation of stroke", the characteristics of syndromes in the patients were investigated at the periods of 1-3 days, 4-10 days and 11-30 days after they had ischemic stroke. General distribution of six basic syndromes was compared between the patients with yin syndrome and the patients with yang syndrome at the three periods. The six basic syndromes were wind syndrome, pathogenic fire syndrome, phlegm syndrome, blood stasis syndrome, qi deficiency syndrome, and syndrome of yin deficiency and yang hyperactivity. The percentages of wind, pathogenic fire, and phlegm syndromes in the patients were decreased at the period of 11-30 days as compared with the period of 1-3 days (87.1% vs 79.3%, 52.1% vs 38.7% and 67.1% vs 57.4% respectively, P0.05). There were no differences in the distribution of yin and yang syndromes among the three periods (P>0.05). The percentages of syndromes of wind, pathogenic fire, phlegm, and yin deficiency and yang hyperactivity were higher (Pfour or five syndromes were higher, and the percentages of single-syndromes and complex syndromes of two syndromes were lower in patients with yang syndrome than in patients with yin syndrome (P<0.05, P<0.01). The most frequent complex syndromes in patients with yin syndrome were complex syndrome of wind, phlegm, blood stasis and qi deficiency, and complex syndrome of wind, phlegm and qi deficiency; while the most frequent complex syndromes in patients with yang syndrome were complex syndrome of wind, pathogenic fire, phlegm and qi deficiency, and complex syndrome of wind, pathogenic fire and phlegm. The

  1. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

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

  2. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

    Science.gov (United States)

    Myers, Angela; Bernstein, Jonathan A; Brennan, Marie-Luise; Curry, Cynthia; Esplin, Edward D; Fisher, Jamie; Homeyer, Margaret; Manning, Melanie A; Muller, Eric A; Niemi, Anna-Kaisa; Seaver, Laurie H; Hintz, Susan R; Hudgins, Louanne

    2014-11-01

    The RASopathies are a family of developmental disorders caused by heritable defects of the RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is well known, the prenatal and neonatal findings are less widely recognized. We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS) and three with Costello syndrome (CS), in conjunction with the results of a comprehensive literature review. The majority of perinatal findings in NS, CS, and CFCS are shared: polyhydramnios; prematurity; lymphatic dysplasia; macrosomia; relative macrocephaly; respiratory distress; hypotonia, as well as cardiac and renal anomalies. In contrast, fetal arrhythmia and neonatal hypoglycemia are relatively specific to CS. NS, CS, and CFCS should all be considered as a possible diagnosis in pregnancies with a normal karyotype and ultrasound findings of a RASopathy. Recognition of the common perinatal findings of these disorders should facilitate both their prenatal and neonatal diagnosis. © 2014 Wiley Periodicals, Inc.

  3. Mobius syndrome: MRI features

    International Nuclear Information System (INIS)

    Markarian, Maria F.; Villarroel, Gonzalo M.; Nagel, Jorge R.

    2003-01-01

    Purpose: Mobius Syndrome or congenital facial diplegia is associated with paralysis of the lateral gaze movements. This syndrome may include other cranial nerve palsies and be associated to musculoskeletal anomalies. Our objective is to show the MRI findings in Mobius Syndrome. Material and methods: MRI study was performed in 3 patients with clinic diagnosis of Mobius Syndrome. RMI (1.5T); exams included axial FSE (T1 and T2), FLAIR, SE/EPI, GRE/20, sagittal FSE T2 , coronal T1, diffusion, angio MRI and Spectroscopy sequences. Results: The common features of this syndrome found in MRI were: depression or straightening of the floor of the fourth ventricle, brainstem anteroposterior diameter diminution, morphologic alteration of the pons and medulla oblongata and of the hypoglossal nuclei as well as severe micrognathia. Conclusion: The morphologic alterations of Mobius Syndrome can be clearly identified by MRI; this method has proved to be a useful diagnostic examination. (author)

  4. Ramsay Hunt syndrome

    Science.gov (United States)

    Hunt syndrome; Herpes zoster oticus; Geniculate ganglion zoster; Geniculate herpes; Herpetic geniculate ganglionitis ... The varicella-zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and ...

  5. [Congenital sensorineural deafness and associated syndromes].

    Science.gov (United States)

    Moatti, L; Garabedian, E N; Lacombe, H; Spir-Jacob, C

    1990-01-01

    The etiology of perceptive deafness, especially the congenital variety, requires investigation. The presence of a variety of signs associated with deafness constitutes an "associated syndrome" and helps to define a possible genetic origin. These syndromes only represent a small percentage of overall causes of deafness in children, since at most they account for only 10% of cases. Certain syndromes are encountered more often or are well known, others are extremely rare or have only been described recently. The authors report six of these very rare syndromes discovered among their patients: a KID syndrome, a Leopard syndrome, a Norrie syndrome, a Jervell and Lange Nielsen syndrome, a recently described entity called CEE with deafness and an External Neuro-Cochleo-Pancreatic syndrome which would not appear to have been previously described.

  6. Ambras syndrome

    Directory of Open Access Journals (Sweden)

    Sudhir Malwade

    2015-01-01

    Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.

  7. Cushing's syndrome during pregnancy

    NARCIS (Netherlands)

    Mulder, W. J.; Berghout, A.; Wiersinga, W. M.

    1990-01-01

    Two cases of Cushing's syndrome during pregnancy are reported, both due to an adrenal adenoma. The association of pregnancy and Cushing's syndrome has up to now been described in 48 patients (including our two cases); Cushing's syndrome was ACTH-independent in 59%, ACTH-dependent in 33%, and of

  8. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report.

    Science.gov (United States)

    Fini, G; Belli, E; Mici, E; Virciglio, P; Moricca, L M; D'Itri, L; Leonardi, A; Malavenda, M S; Krizzuk, D; Merola, R; Maturo, A; Pasta, V

    2013-01-01

    Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient's life under threat.

  9. A rare cause of acute coronary syndrome: Kounis syndrome.

    Science.gov (United States)

    Almeida, João; Ferreira, Sara; Malheiro, Joana; Fonseca, Paulo; Caeiro, Daniel; Dias, Adelaide; Ribeiro, José; Gama, Vasco

    2016-12-01

    Kounis syndrome is an acute coronary syndrome in the context of a hypersensitivity reaction. The main pathophysiological mechanism appears to be coronary vasospasm. We report the case of a patient with a history of allergy to quinolones, who was given ciprofloxacin before an elective surgical procedure and during drug administration developed symptoms and electrocardiographic changes suggestive of ST-segment elevation acute coronary syndrome. The drug was suspended and coronary angiography excluded epicardial coronary disease. Two hours after withdrawal of the drug the symptoms and ST elevation had resolved completely. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Pediatric Toxic Shock Syndrome

    Directory of Open Access Journals (Sweden)

    Jennifer Yee

    2017-09-01

    Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of a pediatric patient with toxic shock syndrome. The case is also appropriate for teaching of medical students and advanced practice providers, as well as a review of the principles of crisis resource management, teamwork, and communication. Introduction: Toxic shock syndrome is a low-frequency, high-acuity scenario requiring timely identification and aggressive management. If patients suffering from this condition are managed incorrectly, they may progress into multi-organ dysfunction and potentially death. Toxic shock syndrome has been associated with Streptococcus and Staphylococcus aureus (Staph. Approximately half of Staph cases are associated with menstruation, which was first described in the 1970s-1980s and was associated with the use of absorbent tampons.1 Group A Streptococcus may cause complications such as necrotizing fasciitis and gangrenous myositis.2 Pediatric patients may present critically ill from toxic shock syndrome. Providers need to perform a thorough history and physical exam to discern the source of infection. Management requires aggressive care with antibiotics and IV fluids. Objectives: By the end of this simulation session, the learner will be able to: 1 Recognize toxic shock syndrome. 2 Review the importance of a thorough physical exam. 3 Discuss management of toxic shock syndrome, including supportive care and the difference in antibiotic choices for streptococcal and staphylococcal toxic shock syndrome. 4 Appropriately disposition a patient suffering from toxic shock syndrome. 5 Communicate effectively with team members and nursing staff during a resuscitation of a critically ill patient. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on toxic shock syndrome.

  11. ObliviSync: Practical Oblivious File Backup and Synchronization

    OpenAIRE

    Aviv, Adam J.; Choi, Seung Geol; Mayberry, Travis; Roche, Daniel S.

    2016-01-01

    Oblivious RAM (ORAM) protocols are powerful techniques that hide a client's data as well as access patterns from untrusted service providers. We present an oblivious cloud storage system, ObliviSync, that specifically targets one of the most widely-used personal cloud storage paradigms: synchronization and backup services, popular examples of which are Dropbox, iCloud Drive, and Google Drive. This setting provides a unique opportunity because the above privacy properties can be achieved with ...

  12. Klinefelter's syndrome and Prader-Willi syndrome: A rare combination

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Vries, B.B. van; Duffels, S.J.H.; Egger, J.I.M.; Noordam, C.; Tuinier, S.

    2007-01-01

    In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS

  13. Klinefelter's syndrome and Prader-Willi syndrome: a rare combination.

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Vries, B.B. van; Duffels, S.J.H.; Egger, J.I.M.; Noordam, C.; Tuinier, S.

    2007-01-01

    In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS

  14. Hyperimmunoglobulin E syndrome with Sjogren's syndrome in a child

    African Journals Online (AJOL)

    We describe a case of hyperimmunoglobulin E syndrome (HIES) associated with Sjogren's syndrome (SS) in a 10-year-old boy and provide a brief review of the literature. Although seen in adults, SS occurring after a primary immunodeficiency disease such as HIES has not previously been reported in a child.

  15. Marfan syndrome (image)

    Science.gov (United States)

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

  16. Hyperimmunoglobulin E syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001311.htm Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

  17. Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.

    Science.gov (United States)

    Jaiyeola, P; El-Metwally, D; Viscardi, R; Greene, C; Woo, H

    2015-01-01

    Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.

  18. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and/or ...... LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician.......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

  19. Kartagener's Syndrome.

    Science.gov (United States)

    Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J

    2009-01-01

    Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

  20. Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome.

    Science.gov (United States)

    Mas-Moya, Jenny; Dudley, Beth; Brand, Randall E; Thull, Darcy; Bahary, Nathan; Nikiforova, Marina N; Pai, Reetesh K

    2015-11-01

    Screening for DNA mismatch repair (MMR) deficiency in colorectal and endometrial carcinomas identifies patients at risk for Lynch syndrome. Some patients with MMR-deficient tumors have no evidence of a germline mutation and have been described as having Lynch-like syndrome. We compared the clinicopathological features of colorectal and endometrial carcinomas in patients with Lynch-like syndrome and Lynch syndrome. Universal screening identified 356 (10.6%) of 3352 patients with colorectal carcinoma and 72 (33%) of 215 patients with endometrial carcinoma with deficient DNA MMR. Sixty-six patients underwent germline mutation analysis with 45 patients (68%) having evidence of a germline MMR gene mutation confirming Lynch syndrome and 21 patients (32%) having Lynch-like syndrome with no evidence of a germline mutation. Most patients with Lynch-like syndrome had carcinoma involving the right colon compared to patients with Lynch syndrome (93% versus 45%; P Lynch syndrome confirmed by germline mutation analysis. Synchronous or metachronous Lynch syndrome-associated carcinoma was more frequently identified in patients with Lynch syndrome compared to Lynch-like syndrome (38% versus 7%; P = .04). There were no significant differences in clinicopathological variables between patients with Lynch-like syndrome and Lynch syndrome with endometrial carcinoma. In summary, 32% of patients with MMR deficiency concerning Lynch syndrome will have Lynch-like syndrome. Our results demonstrate that patients with Lynch-like syndrome are more likely to have right-sided colorectal carcinoma, less likely to have synchronous or metachronous Lynch syndrome-associated carcinoma, and less likely to demonstrate isolated loss of MSH6 expression within their tumor. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome

    NARCIS (Netherlands)

    Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cave, Helene; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C. M.; Wilson, Louise C.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yokhi

    2007-01-01

    Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are

  2. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    ... Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 ... Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 ...

  3. Usher syndrome type III can mimic other types of Usher syndrome.

    Science.gov (United States)

    Pennings, Ronald J E; Fields, Randall R; Huygen, Patrick L M; Deutman, August F; Kimberling, William J; Cremers, Cor W R J

    2003-06-01

    Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV:1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.

  4. Malignant vasovagal syndrome in two patients with Wolff-Parkinson-White syndrome

    Science.gov (United States)

    Gandhi, N M; Bennett, D H

    2004-01-01

    The presence of Wolff-Parkinson-White (WPW) syndrome in patients presenting with syncope suggests that tachyarrhythmia may be the cause. However, the symptoms require careful evaluation. Two young patients presented with syncope and were found to have WPW syndrome on their ECG. In both patients symptoms were suggestive of vasovagal syncope. During tilt testing, both the patients developed their typical symptoms with a fall in blood pressure and heart rate confirming the diagnosis of malignant vasovagal syndrome. PMID:15020537

  5. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  6. Moebius Syndrome Foundation

    Science.gov (United States)

    ... craniofacial/neurological disorder. Individuals with Moebius syndrome cannot smile or frown, and do not have lateral eye ... the organization to ensure that they are in line with the mission of the Moebius Syndrome Foundation. ...

  7. Ehlers-Danlos syndrome

    Directory of Open Access Journals (Sweden)

    Wakhloo Tulika

    2015-01-01

    Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

  8. What Is Respiratory Distress Syndrome?

    Science.gov (United States)

    ... Home / Respiratory Distress Syndrome Respiratory Distress Syndrome Also known as What Is Respiratory ... This condition is called apnea (AP-ne-ah). Respiratory Distress Syndrome Complications Depending on the severity of ...

  9. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Souhami Filho, L.

    1985-01-01

    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.) [pt

  10. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

    Science.gov (United States)

    Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

    2011-11-05

    To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  11. Det tidlige sprog hos børn med autisme - en afgørende udviklingsfaktor

    DEFF Research Database (Denmark)

    Brynskov, Cecilia; Eigsti, Inge-Marie

    2010-01-01

    bidrage til teorier om normaludviklingen. Denne artikel fokuserer på en afgørende faktor for prognosen ved autisme: den tidlige sprogudvikling. De tidlige sprogfærdigheder er en afgørende prædiktor for senere fungeren, såvel på kort som på langt sigt. Højtfungerende autisme (HFA) og Aspergers syndrom (AS......Autisme er en heterogen diagnose. Den er karakteriseret ved en betydelig spredning inden for intelligens og sprog, og ikke mindst: ved prognostisk heterogenitet. En bedre forståelse af beskyttende og risikofaktorer ved autisme sætter os i stand til at intervenere mere effektivt og kan desuden...

  12. What Is Antiphospholipid Antibody Syndrome?

    Science.gov (United States)

    ... Back To Health Topics / Antiphospholipid Antibody Syndrome Antiphospholipid Antibody Syndrome Also known as What Is Antiphospholipid (AN-te-fos-fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders ...

  13. Noonan syndrome - a new survey.

    Science.gov (United States)

    Tafazoli, Alireza; Eshraghi, Peyman; Koleti, Zahra Kamel; Abbaszadegan, Mohammadreza

    2017-02-01

    Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available.

  14. Skin Peeling Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma Rajeev

    2000-01-01

    Full Text Available Peeling of the skin is an uncommonly encountered disorder. Occurrence of vesicles and bullae in peeling skin syndrome is very rare. We report a case of idiopathic peeling skin syndrome with vesicular lesions.

  15. Congenital Heart Diseases associated with Identified Syndromes ...

    African Journals Online (AJOL)

    Recognised syndromes were seen in 69(68%) cases. Down syndrome with 54 children contributed 78.3% of those with known syndromes. Other identified syndromes and associations were Marfan's, Noonan's, Edwards, Prune Belly, Apert, Ellis-van creveld syndrome and congenital rubella syndrome. Congenital heart ...

  16. Waardenburg syndrome with familial unilateral renal agenesis: a new syndrome variant?

    Science.gov (United States)

    Webb, Katie M; Smith, Alisha J; Dansby, Linda M; Diskin, Charles J

    2015-06-01

    A 64-year-old man with Waardenburg syndrome presented with anuria and was subsequently discovered by renal ultrasound to have unilateral renal agenesis. The patient is one of three generations with incidental finding of renal agenesis also marked by the presence of Waardenburg syndrome. To our knowledge, there has been no mention elsewhere in the scientific literature of a variant of Waardenburg syndrome with associated renal agenesis. © 2014 The Authors. Therapeutic Apheresis and Dialysis © 2014 International Society for Apheresis.

  17. Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

    NARCIS (Netherlands)

    Raaijmakers, R.; Noordam, C.; Noonan, J.A.; Croonen, E.A.; Burgt, C.J.A.M. van der; Draaisma, J.M.T.

    2008-01-01

    Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis

  18. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    M K Sunil

    2010-01-01

    Full Text Available Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts, and musculoskeletal malformation. It is occasionally associated with aggressive basal cell carcinoma and internal malignancies. It is about a muttisystemic process characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falxcerebri. Hence, present a case report and a review of Gorlin-Goltz syndrome.

  19. Eagle syndrome. A narrative review

    Directory of Open Access Journals (Sweden)

    Heber Arbildo

    2016-09-01

    Full Text Available Painful disorders in the maxillofacial region are common in dental practice. Most of these conditions are not properly diagnosed because of inadequate knowledge of craniofacial and cervico-pharyngeal syndromes such as Eagle Syndrome. The aim of this review is to describe the general aspects, diagnosis and treatment of Eagle syndrome. Eagle syndrome or stylohyoid syndrome was first described by Watt W. Eagle in 1937. It was defined as orofacial pain related to the elongation of the styloid process and ligament stylohyoid calcification. The condition is accompanied by symptoms such as dysphonia, dysphagia, sore throat, glossitis, earache, tonsillitis, facial pain, headache, pain in the temporomandibular joint and inability to perform lateral movements of the neck. Diagnosis and treatment of Eagle syndrome based on symptoms and radiographic examination of the patient will determine the need for surgical or nonsurgical treatment. Eagle syndrome is a complex disorder demanding a thorough knowledge of its signs and symptoms to make a correct diagnosis and provide an appropriate subsequent treatment. Disseminating information about this syndrome among medical-dental professionals is essential to provide adequate dental care to patients.

  20. Influence of traditional Chinese medicine syndrome groups on quality of life in women with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Li-Wen Huang

    2016-10-01

    Full Text Available Traditional Chinese medicine (TCM; 中醫 zhōng yī syndrome groups are based on the symptoms of human diseases and guide the use of Chinese herbs. The aim of this study was to examine the effects of TCM syndrome groups on biochemical characteristics and quality of life (QOL in women with metabolic syndrome (MS. Among the 1080 registered female patients screened at our outpatient clinic, a total of 322 women aged between 18 and 65 years and meeting the requirements of MS were enrolled. All the patients were asked to fill out a questionnaire on metabolic TCM syndrome groups and a questionnaire on the QOL, the Medical Outcomes Study (MOS Short Form-12 (SF-12. Data of biochemical characteristics were collected at the same time. The present study showed MS women in TCM syndrome groups had significantly lower physical and mental component scores in SF-12 compared with those not in TCM syndrome groups. We also found MS patients in TCM syndrome groups, except Kidney Deficiency syndrome, showed higher body mass indexes, waist circumference, and hip circumference. However, there was almost no difference in most biochemical characteristics between TCM syndrome groups. The MS patients diagnosed as belonging to TCM syndrome groups had poor QOL.

  1. Nelson syndrome: definition and management.

    Science.gov (United States)

    Barber, T M; Adams, E; Wass, J A H

    2014-01-01

    Nelson syndrome is an important complication of treatment with total bilateral adrenalectomy (TBA) for patients with refractory Cushing's disease. Although early cases of Nelson syndrome often presented with the clinical features of large sellar masses, the modern face of Nelson syndrome has changed primarily due to earlier detection (with highly resolved magnetic resonance imaging (MRI) and sensitive ACTH assays) and greater awareness of the condition, resulting in reduced morbidity and mortality. Although lack of administration of neoadjuvant pituitary radiotherapy post-TBA surgery may predict future development of Nelson syndrome, other predictive factors remain controversial. Therefore, Nelson syndrome should be screened for closely and long-term in all patients with a history of Cushing's disease and TBA. The diagnosis of Nelson syndrome remains controversial, and the pathogenesis of this condition is incompletely understood. Current hypotheses include the "released negative feedback" mechansism (residual pituitary corticotropinoma cells are "released" from the negative feedback effects of cortisol following TBA), and the "aggressive corticotropinoma" mechanism (Nelson syndrome is most likely to develop in those patients with refractory treatments - including TBA - for an underlying aggressive corticotropinoma). Effective management of Nelson syndrome with pituitary surgery and radiotherapy is often a challenge. Other therapies (such as Gamma Knife surgery and temozolomide) play an important role and merit further research into their efficacy and placement in the management pathway of Nelson syndrome. © 2014 Elsevier B.V. All rights reserved.

  2. Goldenhar syndrome and urogenital abnormalities

    Directory of Open Access Journals (Sweden)

    Mohan Marulaiah

    2003-01-01

    Full Text Available The Goldenhar syndrome (oculo-auriculo-vertebral syn-drome or 1st and 2nd branchial arch syndrome is a com-plex of craniofacial anomalies. It has been associated with anomalies in other systems and with abnormalities of the urogenital system. We present a case of Goldenhar syn-drome with multiple renal anomalies and a urogenital si-nus, which has not been reported before.

  3. Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.

    Science.gov (United States)

    Bonanni, Paolo; Casellato, Susanna; Fabbro, Franco; Negrin, Susanna

    2017-10-01

    Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope. Duration of the seizures could be brief or lengthy. Interictal EEGs revealed functional multifocal abnormalities. The evolution was benign in all patients with seizures remission before the age of 14. This observation expands the spectrum of benign epileptic phenotypes present in Fragile-X-syndrome and may be quite helpful in guiding anticonvulsant management and counseling families as to expectations regarding seizure remission. © 2017 Wiley Periodicals, Inc.

  4. A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome

    Directory of Open Access Journals (Sweden)

    Christina E. Brzezniak

    2017-04-01

    Full Text Available Carcinoid tumors are neuroendocrine tumors that mainly arise in the gastrointestinal tract, lungs, and bronchi. Bronchopulmonary carcinoids have been associated with Cushing syndrome, which results from ectopic adrenocorticotrophic hormone (ACTH secretion. We report the case of a 65-year-old man, a colonel in the US Air Force, with metastatic bronchopulmonary carcinoid tumors treated on a clinical trial who was hospitalized for complaints of increasing thirst, polydipsia, polyuria, weakness, and visual changes. Decompensated hyperglycemia suggested a diagnosis of hyperglycemic hyperosmolar nonketotic syndrome (HHNS. Additional findings, which included hypokalemia, hypernatremia, hypertension, metabolic alkalosis, moon facies, and striae, raised a red flag for an ectopic ACTH syndrome. Elevated ACTH levels confirmed Cushing syndrome. Treatment with a fluid replacement and insulin drip resulted in immediate symptomatic improvement. Cushing syndrome should be considered in carcinoid patients with physical stigmata such as moon facies and striae. HHNS may be the presenting clinical feature in patients with impaired glucose metabolism.

  5. Spectrum of Features in Pterygium Syndrome

    Directory of Open Access Journals (Sweden)

    Sanjay Y. Parashar

    2006-04-01

    Full Text Available Pterygium syndrome is a complex and rare congenital deformity that consists of contractures involving multiple flexural surfaces and associated craniofacial anomalies. It often has associated conditions, including anomalies of the cardiovascular, respiratory, gastrointestinal and genitourinary systems. It may present in different forms, including multiple pterygium syndrome of Escobar, lethal multiple pterygium syndrome, popliteal pterygium syndrome, lethal popliteal syndrome (Bartsocas-Papas syndrome and arthrogryposis multiplex congenita. The clinical presentation, multidisciplinary management and the long-term outcome in three patients with this condition are presented.

  6. Burnout Syndrome

    OpenAIRE

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

    2013-01-01

    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  7. Noonan syndrome

    OpenAIRE

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

    2013-01-01

    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 ris...

  8. Crohn's Disease Associated with Sweet's Syndrome and Sjögren's Syndrome Treated with Infliximab

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    Erina N. Foster

    2005-01-01

    Full Text Available The association of Crohn's disease (CD and Sweet's syndrome is rare and the presence of Sjögren's syndrome in Crohn's disease is even rarer, with only three reports found in the literature. We describe two cases of Crohn's disease associated with Sweet's syndrome, one of which is the first case of CD and Sweet's concomitantly associated with Sjögren's syndrome. Both cases responded rapidly to Infliximab therapy with complete resolution of the skin lesions.

  9. Lumbar dorsal ramus syndrome.

    Science.gov (United States)

    Bogduk, N

    1980-11-15

    Low back pain, referred pain in the lower limbs, and spasm of the back, gluteal, and hamstring muscles are clinical features which can be induced in normal volunteers by stimulating structures which are innervated by the lumbar dorsal rami. Conversely, they can be relieved in certain patients by selective interruption of conduction along dorsal rami. These facts permit the definition of a lumbar dorsal ramus syndrome, which can be distinguished from the intervertebral disc syndrome and other forms of low back pain. The distinguishing feature is that, in lumbar dorsal ramus syndrome, all the clinical features are exclusively mediated by dorsal rami and do not arise from nerve-root compression. The pathophysiology, pathology, and treatment of this syndrome are described. Recognition of this syndrome, and its treatment with relatively minor procedures, can obviate the need for major surgery which might otherwise be undertaken.

  10. [Clinical characteristics of Rett Syndrome].

    Science.gov (United States)

    Abbes, Zeineb; Bouden, Asma; Halayem, Soumaya; Othman, Sami; Bechir Halayem, Mohamed

    2011-10-01

    Rett Syndrome is a neurodevelopmental disorder, one of the least commonly occurring autism spectrum disorders (ASD),affecting mainly females. To describe features and molecular specificities of Rett syndrome. To identify articles for this review, a Pubmed search was conducted using the following keywords: Rett syndrome, regression,mutation, stereotypes. This syndrome is characterized by cognitive impairment,communication dysfunction, stereotypic movement disorder, and growth failure. It is generally caused by mutations in the MECP2 gene. Rett Syndrome has a prevalence ranging from 10-20 000 females. Specific treatment is not available, but patients need a careful planning for long-term care, with multidisciplinary approaches.

  11. Cushing syndrome: update on testing.

    Science.gov (United States)

    Raff, Hershel

    2015-03-01

    Endogenous hypercortisolism (Cushing syndrome) is one of the most enigmatic diseases in clinical medicine. The diagnosis and differential diagnosis of Cushing syndrome depend on proper laboratory evaluation. In this review, an update is provided on selected critical issues in the diagnosis and differential diagnosis of Cushing syndrome: the use of late-night salivary cortisol in initial diagnosis and for postoperative surveillance, and the use of prolactin measurement to improve the performance of inferior petrosal sinus sampling to distinguish Cushing disease from ectopic adrenocorticotropic hormone (ACTH) syndrome during differential diagnosis of ACTH-dependent Cushing syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Bertolotti's syndrome: a case report.

    Science.gov (United States)

    Mitra, Raj; Carlisle, Mark

    2009-01-01

    A case report and literature review is presented. To review relevant data for the management of Bertolotti's syndrome and to determine whether the transverse process-ilium articulation may be a pain generator. Bertolotti's syndrome is associated with axial low back pain secondary to arthritic changes; the pain generator in the disorder is unclear. We present a case report of symptomatic Bertolotti's syndrome managed with intra-articular steroid injections. A patient with Bertolotti's syndrome had significant relief of axial pain after steroid injection of the ilium-transverse process articulation. Steroid therapy may be a non-surgical alternative for the treatment of symptomatic Bertolotti's syndrome.

  13. Guillain-Barre Syndrome

    Science.gov (United States)

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS ... your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, ...

  14. Polycystic Ovary Syndrome

    Science.gov (United States)

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts ( ... PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is ...

  15. Hermansky-Pudlak syndrome

    Directory of Open Access Journals (Sweden)

    Preena A

    2017-04-01

    Full Text Available Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea, oculocutaneous albinism and nystagmus.

  16. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  17. Holmes-Adie Syndrome

    Science.gov (United States)

    ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ...

  18. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (8 links) ...

  19. Stigma in Iranian Down Syndrome

    Directory of Open Access Journals (Sweden)

    Sahel Hemmati

    2010-04-01

    Full Text Available Objectives: Stigma is a negative value. Many behaviors are to ward Stigmatized people. Down syndrome is one of conditions with Stigma. The aim of this study is to determine the sources of labeling in iranian Down syndrome. Methods: The View of 105 Down syndrome families concerning stigma were conducted. All of Down syndrome was under 50 years. Results: A fair proportion of Down syndrome families perceived that stigma had a negative effect from social. Causes of stigma are different. Stigma due social interaction, Media and health professionals are significant than others. Discussion: The diagnostic label of Down syndrome may render the person and his family vulnerable to stigmatization. The most causes of stigma were determined therefore, in the destigmatization programs, they must be attended. Stigma must be detected, too.

  20. Loin pain hematuria syndrome.

    Science.gov (United States)

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

    2014-09-01

    Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis. Copyright © 2014 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.