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Sample records for lymphocytosis syndrome dils

  1. Radiological chest manifestations in diffuse infiltrative lymphocytosis syndrome (DILS

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    F Ismail

    2011-06-01

    Full Text Available This report focuses on the radiological manifestations of diffuse interstitial lymphocytosis syndrome (DILS in the chest. Awareness of this entity and early diagnosis by radiologists will enable timeous intervention by clinicians.

  2. A collective review of syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis

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    Jian-hua WU

    2016-04-01

    Full Text Available The syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis (HaNDL is characterized by recurrent attacks of paroxysmal headache, accompanying with neurological deficits and lymphocytic pleocytosis. Clinical features of the syndrome are nonspecific that it is bound to be confused with transient ischemic attack, intracranial tumor, viral encephalitis, migraine and other diseases. In fact, it is usually mis-diagnosed at the initial visits. So far, there is only one HaNDL case reported in China. Therefore the etiology, clinical features, diagnosis, and treatment are herewith reviewed to improve the knowledge regarding this syndrome. DOI: 10.11855/j.issn.0577-7402.2016.04.16

  3. Syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis (HaNDL) in a patient with confusional symptoms, diffuse EEG abnormalities, and bilateral vasospasm in transcranial Doppler ultrasound: A case report and literature review.

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    Hidalgo de la Cruz, M; Domínguez Rubio, R; Luque Buzo, E; Díaz Otero, F; Vázquez Alén, P; Orcajo Rincón, J; Prieto Montalvo, J; Contreras Chicote, A; Grandas Pérez, F

    2017-04-17

    HaNDL syndrome (transient headache and neurological deficits with cerebrospinal fluid lymphocytosis) is characterised by one or more episodes of headache and transient neurological deficits associated with cerebrospinal fluid lymphocytosis. To date, few cases of HaNDL manifesting with confusional symptoms have been described. Likewise, very few patients with HaNDL and confusional symptoms have been evaluated with transcranial Doppler ultrasound (TCD). TCD data from patients with focal involvement reveal changes consistent with vasomotor alterations. We present the case of a 42-year-old man who experienced headache and confusional symptoms and displayed pleocytosis, diffuse slow activity on EEG, increased blood flow velocity in both middle cerebral arteries on TCD, and single-photon emission computed tomography (SPECT) findings suggestive of diffuse involvement, especially in the left hemisphere. To our knowledge, this is the first description of a patient with HaNDL, confusional symptoms, diffuse slow activity on EEG, and increased blood flow velocity in TCD. Our findings suggest a relationship between cerebral vasomotor changes and the pathophysiology of HaNDL. TCD may be a useful tool for early diagnosis of HaNDL. Copyright © 2017 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  4. Pulmonary strongyloidiasis associated CD3+ large granular lymphocytosis

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    Rishi Muhammad

    2011-01-01

    Full Text Available We report a case of pulmonary strongyloidiasis in a patient with large granular lymphocytosis. He was on short-term high dose immunosuppressant therapy. A 77-year-old white male presented to the emergency room with fever and shortness of breath for 10 days. The patient had been diagnosed about 3 months prior to this presentation with "large granular lymphocytosis" (LGL after a workup for pancytopenia. Methotrexate and prednisone had been started 1 month ago for the treatment of LGL. Five days prior to the current presentation, he had been started on moxifloxacin as an outpatient but got progressively worse and came to an emergency room. Bronchial washings (bronchoalveolar lavage demonstrated numerous filariform larvae of Strongyloides stercoralis. The patient was treated with ivermectin and improved. Pulmonary strongyloidiasis should be considered in the differential if X-ray findings show a interstitial or alveolar pattern and if the patient has visited the endemic areas, even in the remote past.

  5. Biological optimization of simultaneous boost on intra-prostatic lesions (DILs): sensitivity to TCP parameters.

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    Azzeroni, R; Maggio, A; Fiorino, C; Mangili, P; Cozzarini, C; De Cobelli, F; Di Muzio, N G; Calandrino, R

    2013-11-01

    The aim of this investigation was to explore the potential of biological optimization in the case of simultaneous integrated boost on intra-prostatic dominant lesions (DIL) and evaluating the impact of TCP parameters uncertainty. Different combination of TCP parameters (TD50 and γ50 in the Poisson-like model), were considered for DILs and the prostate outside DILs (CTV) for 7 intermediate/high-risk prostate patients. The aim was to maximize TCP while constraining NTCPs below 5% for all organs at risk. TCP values were highly depending on the parameters used and ranged between 38.4% and 99.9%; the optimized median physical doses were in the range 94-116 Gy and 69-77 Gy for DIL and CTV respectively. TCP values were correlated with the overlap PTV-rectum and the minimum distance between rectum and DIL. In conclusion, biological optimization for selective dose escalation is feasible and suggests prescribed dose around 90-120 Gy to the DILs. The obtained result is critically depending on the assumptions concerning the higher radioresistence in the DILs. In case of very resistant clonogens into the DIL, it may be difficult to maximize TCP to acceptable levels without violating NTCP constraints.

  6. Mission Composeable C2 in DIL Information Environments Using Widgets and App Stores

    Science.gov (United States)

    2013-06-01

    18th ICCRTS “Mission Composeable C2 in DIL Information Environments using Widgets and App Stores ” Topics: Topic 3: Data, Information, and...operational concept, or force.” 43 (emphasis in original) A Technology to Enable Agile C2: Widget & App Stores One recent innovation, both in the...the warfighter. Mission Composeable C2 in DIL Information Environments using Widgets and App Stores 18th ICCRTS Presenter: Ms. Amanda

  7. Acute Disseminated Histoplasmosis with Atypical Lymphocytosis in an Immunocompetent Host

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    Ayman Elbadawi, MD

    2017-01-01

    Full Text Available 65 year-old-male presented with a one-week history of high grade fever, fatigue and confusion which began abruptly two days after a cystoscopy procedure. Past medical history included pulmonary sarcoidosis diagnosed by mediastinal lymph biopsy, diabetes and hypertension. On admission he was febrile and confused with stable vital signs. Initial workup included negative Head CT and lumbar puncture. Blood work revealed normal metabolic and liver function tests with progressive anemia, thrombocytopenia and atypical lymphocytosis of 15–20%. Blood, urine and respiratory cultures all were negative for bacteria and. A bone marrow biopsy was done given the abnormal lymphocytes in peripheral smear, revealing budding yeast consistent with Histoplasma capsulatum. Histoplasma antigen was positive in urine and eventually blood and bone marrow grew H. capsulatum. Patient was started on amphotericin-B for diagnosis of disseminated histoplasmosis. After a 2 week period of amphotericin B, patient was switched to oral Itraconazole to complete 12 months course of treatment.

  8. Persistence of Natural Killer (NK cell lymphocytosis with hyposplenism without development of leukaemia

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    Khan Sujoy

    2005-09-01

    Full Text Available Abstract Background Natural killer (NK cell lymphocytosis usually has an indolent course and can progress into massive lymphocytosis with development of cytopenias and neoplastic diseases. NK-cells usually express one or more "NK-associated" antigens (CD16, CD56, CD57. Reactive expansions are seen in autoimmune diseases, viral infections, solid tumours and non-Hodgkin's lymphoma. Case presentation We report a lady with a benign clinical course over 10 years and persistent CD8+/CD3-/CD57+/CD16+ LGL proliferation with presence of Howell-Jolly bodies (functional hyposplenism, an association not previously described. Conclusion We discuss the possible causes of clonal expansion and conclude that this may be part of the spectrum of immune dysregulation associated with NK-cell lymphocytosis.

  9. Dil Sorunu Olan Çocuklar İçin Bütüncül Dil Yaklaşımı

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    Figen Turan

    2003-01-01

    Full Text Available Bütüncül dil kavramı dilin özellikle okul sistemlerinde öğretilmesi konusunda bir eğitim felsefesini tanımlamak için kullanılmaktadır (Goodman, 1986. Bu yaklaşım, doğal dil öğrenimini temel alarak, hem sözel hem de yazılı dilin, tum bileşenleri açısından (sözdizimi, sesbilgisi, vb öğretimde öğretim programı ile bir bütün olarak ve çocuk için anlamlı etkinlikler çerçevesinde ele alınması gereğini savunmaktadır. Bu yazıda, bütüncül dil yaklaşımının felsefesi, sınıf ortamında kullanımı ve dil sorunu olan çocuklara uygulanması ve yararları tartışılmıştır. Whole language is an approach to language teaching, particularly in school settings (Goodman, 1986 Based on natural language learning, it advocates that language, with both its components (e g syntax, phonology and spoken and written forms, should be integrated with the curriculum and presented in meaningful activities for the child. This paper describes the philosophy of whole language, its applicatıon in a classroom setting and its implementation and benefits for children with language impairments.

  10. Analysis of Organelle Targeting by DIL Domains of the Arabidopsis Myosin XI Family

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    Sattarzadeh, Amirali; Schmelzer, Elmon; Hanson, Maureen R.

    2011-01-01

    The Arabidopsis thaliana genome encodes 13 myosin XI motor proteins. Previous insertional mutant analysis has implicated substantial redundancy of function of plant myosin XIs in transport of intracellular organelles. Considerable information is available about the interaction of cargo with the myosin XI-homologous yeast myosin V protein myo2p. We identified a region in each of 12 myosin XI sequences that correspond to the yeast myo2p secretory-vesicle binding domain (the “DIL” domain). Structural modeling of the myosin DIL domain region of plant myosin XIs revealed significant similarity to the yeast myo2p and myo4p DIL domains. Transient expression of YFP fusions with the Arabidopsis myosin XI DIL domain resulted in fluorescent labeling of a variety of organelles, including the endoplasmic reticulum, peroxisomes, Golgi, and nuclear envelope. With the exception of the YFP::MYA1 DIL fusion, expression of the DIL–YFP fusions resulted in loss of motility of labeled organelles, consistent with a dominant-negative effect. Certain fusions resulted in localization to the cytoplasm, plasma membrane, or to unidentified vesicles. The same YFP-domain fusion sometimes labeled more than one organelle. Expression of a YFP fusion to a yeast myo2p DIL domain resulted in labeling of plant peroxisomes. Fusions with some of the myosin XI domains resulted in labeling of known cargoes of the particular myosin XI; however, certain myosin XI YFP fusions labeled organelles that had not previously been found to be detectably affected by mutations nor by expression of dominant-negative constructs. PMID:22645548

  11. Nonlinear Observer Design of the Generalized Rössler Hyperchaotic Systems via DIL Methodology

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    Yeong-Jeu Sun

    2012-01-01

    Full Text Available The generalized Rössler hyperchaotic systems are presented, and the state observation problem of such systems is investigated. Based on the differential inequality with Lyapunov methodology (DIL methodology, a nonlinear observer design for the generalized Rössler hyperchaotic systems is developed to guarantee the global exponential stability of the resulting error system. Meanwhile, the guaranteed exponential decay rate can be accurately estimated. Finally, numerical simulations are provided to illustrate the feasibility and effectiveness of proposed approach.

  12. Neurotropic T-cell lymphocytosis: a cutaneous expression of CLIPPERS.

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    Smith, Annika; Matthews, Yasmin; Kossard, Steven; Turner, Jenny; Buckland, Michael E; Parratt, John

    2014-08-01

    Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disease of the central nervous system that predominantly involves the pons and cerebellum and that improves with immunosuppressive treatment. Only recently described, the etiology is unknown, diagnosis is difficult and long-term neurological sequelae may occur without aggressive treatment. Herein, we describe a 59-year-old woman who presented with subcutaneous nodules affecting her face, trunk, limbs and an indurated annular erythematous lesion on her forearm. This was associated with marked dysesthesia of her skin, refractory to treatment. There was a 4-year history of dysequilibrium, vertigo, truncal and gait ataxia with progressive neurological symptoms. Skin biopsy of the annular nodular lesion showed a lymphohistiocytic infiltrate in dermis and subcutis with a striking lymphocyte-dominant infiltrate that was perineural and formed a nodular collection extending along a prominent subcutaneous nerve. Immunophenotyping indicated a marked predominance of T cells that were CD3 positive with a 2 : 1 CD4 : CD8 ratio. Scattered histiocytes were present but no well-formed granulomas or vasculitis. Magnetic resonance imaging studies showed changes in the pontine, brain stem and cerebellar region, which subsequently were defined as characteristic for CLIPPERS, but no brain biopsy was pursued. The marked neural skin symptoms and the cutaneous histopathological findings indicate that the skin may be an additional target organ in CLIPPERS, and the immune response may be directed against a common neural antigen. In radiologically typical CLIPPERS, identification of clinical skin lesions particularly subcutaneous nodules and biopsy may potentially form a basis for tissue diagnosis in this syndrome.

  13. Delivery of human NKG2D-IL-15 fusion gene by chitosan nanoparticles to enhance antitumor immunity

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    Yan, Chen; Jie, Leng; Yongqi, Wang [Department of Immunology, School of Medicine, Yangzhou University, Yangzhou, 225009 (China); Weiming, Xiao [Department of Gastroenterology, The Second Clinical Medical College, Yangzhou University, Yangzhou, 225009 (China); Juqun, Xi [Jiangsu Key Laboratory of Integrated Traditional Chinese and Western Medicine for Prevention and Treatment of Senile Diseases, Yangzhou, 225009 (China); Yanbing, Ding [Department of Gastroenterology, The Second Clinical Medical College, Yangzhou University, Yangzhou, 225009 (China); Li, Qian [Department of Immunology, School of Medicine, Yangzhou University, Yangzhou, 225009 (China); Xingyuan, Pan [Jiangsu Key Laboratory of Zoonosis, Yangzhou University, Yangzhou, 225009 (China); Mingchun, Ji [Department of Immunology, School of Medicine, Yangzhou University, Yangzhou, 225009 (China); Weijuan, Gong, E-mail: wjgong@yzu.edu.cn [Department of Immunology, School of Medicine, Yangzhou University, Yangzhou, 225009 (China); Department of Gastroenterology, The Second Clinical Medical College, Yangzhou University, Yangzhou, 225009 (China); Jiangsu Key Laboratory of Integrated Traditional Chinese and Western Medicine for Prevention and Treatment of Senile Diseases, Yangzhou, 225009 (China); Jiangsu Key Laboratory of Zoonosis, Yangzhou University, Yangzhou, 225009 (China); Jiangsu Co-Innovation Center for Prevention and Control of Important Animal Infectious Diseases and Zoonoses, Yangzhou, 225009 (China)

    2015-07-31

    Nanoparticles are becoming promising carriers for gene delivery because of their high capacity in gene loading and low cell cytotoxicity. In this study, a chitosan-based nanoparticle encapsulated within a recombinant pcDNA3.1-dsNKG2D-IL-15 plasmid was generated. The fused dsNKG2D-IL-15 gene fragment consisted of double extracellular domains of NKG2D with IL-15 gene at downstream. The average diameter of the gene nanoparticles ranged from 200 nm to 400 nm, with mean zeta potential value of 53.8 ± 6.56 mV. The nanoparticles which were loaded with the dsNKG2D-IL-15 gene were uptaken by tumor cells with low cytotoxicity. Tumor cells pre-transfected by gene nanopartilces stimulated NK and T cells in vitro. Intramuscular injection of gene nanoparticles suppressed tumor growth and prolonged survival of tumor-bearing mice through activation of NK and CD8{sup +} T cells. Thus, chitosan-based nanoparticle delivery of dsNKG2D-IL-15 gene vaccine can be potentially used for tumor therapy. - Highlights: • Generation of a nanoparticle for delivery of dsNKG2D-IL-15 gene. • Characterization of the gene nanoparticle. • Antitumor activity mediated by the gene nanoparticle.

  14. Genotyping the future: scientists' expectations about race/ ethnicity after BiDil.

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    Tutton, Richard; Smart, Andrew; Martin, Paul A; Ashcroft, Richard; Ellison, George T H

    2008-01-01

    The ongoing debate about the FDA approval of BiDil in 2005 demonstrates how the first racially/ethnically licensed drug is entangled in both Utopian and dystopian future visions about the continued saliency of race/ethnicity in science and medicine. Drawing on the sociology of expectations, this paper analyzes how scientists in the field of pharmacogenetics are constructing certain visions of the future with respect to the use of social categories of race/ethnicity and the impact of high-throughput genotyping technologies that promise to transform scientific practices.

  15. Non-CLL-like monoclonal B-Cell lymphocytosis in the general population: Prevalence and phenotypic/genetic characteristics

    NARCIS (Netherlands)

    W.G. Nieto (Wendy); C. Teodosio (Cristina); A. López (Antonio); A. Rodríguez-Caballero (Arancha); A. Romero (Alfonso); P. Bárcena (Paloma); M.L. Gutierrez; A.W. Langerak (Anton); P. Fernandez-Navarro (Paulino); A. Orfao; J. Almeida (Julia); A.O.M.C.C.S. Santa Marta de Tormes; B.H.P.C.S. Garrido Sur; C.L.M.T.C.S. Ledesma; C.R.J.M.C.S. Alba de Tormes; C.L.R.C.S.F. Villalobos; D.V.P.J.C.S. Peñaranda; F.E.E.C.S. Pizarrales-Vidal; G.R.B.L.C.S. La Alberca; G.S.F.C.S. Periurbana Norte; G.M.J.C.S. Guijuelo; G.M.J.M.C.S. Vitigudino; J.R.M.J.C.S. Garrido Norte; J.C.T.B.C.S. Elena Ginel Diez; M.P.M.C.S. Fuentes de Oñoro; M.L.J.C.S. San Juan; M.D.M.P.C.S. Miguel Armijo; S.A.B.C.S. Aldeadavila de La Ribera; S.P.R.C.S. San Jose

    2010-01-01

    textabstractBackground: Monoclonal B-cell lymphocytosis (MBL) indicates <5 × 109peripheral blood (PB) clonal B-cells/L in healthy individuals. In most cases, MBL cells show similar phenotypic/genetic features to chronic lymphocytic leukemia cells - CLL-like MBL - but little is known about

  16. Non-CLL-like monoclonal B-Cell lymphocytosis in the general population: Prevalence and phenotypic/genetic characteristics

    NARCIS (Netherlands)

    W.G. Nieto (Wendy); C. Teodosio (Cristina); A. López (Antonio); A. Rodríguez-Caballero (Arancha); A. Romero (Alfonso); P. Bárcena (Paloma); M.L. Gutierrez; A.W. Langerak (Ton); P. Fernandez-Navarro (Paulino); A. Orfao; J. Almeida (Julia); A.O.M.C.C.S. Santa Marta de Tormes; B.H.P.C.S. Garrido Sur; C.L.M.T.C.S. Ledesma; C.R.J.M.C.S. Alba de Tormes; C.L.R.C.S.F. Villalobos; D.V.P.J.C.S. Peñaranda; F.E.E.C.S. Pizarrales-Vidal; G.R.B.L.C.S. La Alberca; G.S.F.C.S. Periurbana Norte; G.M.J.C.S. Guijuelo; G.M.J.M.C.S. Vitigudino; J.R.M.J.C.S. Garrido Norte; J.C.T.B.C.S. Elena Ginel Diez; M.P.M.C.S. Fuentes de Oñoro; M.L.J.C.S. San Juan; M.D.M.P.C.S. Miguel Armijo; S.A.B.C.S. Aldeadavila de La Ribera; S.P.R.C.S. San Jose

    2010-01-01

    textabstractBackground: Monoclonal B-cell lymphocytosis (MBL) indicates <5 × 109peripheral blood (PB) clonal B-cells/L in healthy individuals. In most cases, MBL cells show similar phenotypic/genetic features to chronic lymphocytic leukemia cells - CLL-like MBL - but little is known about non-CLL-li

  17. Evolution of microscopic colitis to giant cell colitis without significant intraepithelial lymphocytosis or thickened collagen plate.

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    De Petris, Giovanni; Chen, Longwen

    2015-05-01

    Microscopic colitis (MC) is an umbrella term that encompasses lymphocytic colitis (LC) and collagenous colitis (CC). Several histological variants of these 2 entities exist; among them is the uncommon giant cell colitis (GCC), in which histiocytic giant cells (GCs) are present in background of CC or LC. We report the case of a 71-year-old woman complaining of watery diarrhea for several years that was diagnosed with CC. At follow-up, she developed giant cell colitis (GCC). Nine years later, a colectomy revealed a form of microscopic colitis in which significant intraepithelial lymphocytosis and collagen plate thickening have disappeared while GCs persisted with diffuse mononuclear cells inflammation of the lamina propria. Thinning of the collagen plate in association with GCs has been described previously. The case contributes the possibility of further evolution of MC into a pure giant cell colitis in which the prototypical manifestations of MC have all but disappeared.

  18. Delivery of human NKG2D-IL-15 fusion gene by chitosan nanoparticles to enhance antitumor immunity.

    Science.gov (United States)

    Yan, Chen; Jie, Leng; Yongqi, Wang; Weiming, Xiao; Juqun, Xi; Yanbing, Ding; Li, Qian; Xingyuan, Pan; Mingchun, Ji; Weijuan, Gong

    2015-07-31

    Nanoparticles are becoming promising carriers for gene delivery because of their high capacity in gene loading and low cell cytotoxicity. In this study, a chitosan-based nanoparticle encapsulated within a recombinant pcDNA3.1-dsNKG2D-IL-15 plasmid was generated. The fused dsNKG2D-IL-15 gene fragment consisted of double extracellular domains of NKG2D with IL-15 gene at downstream. The average diameter of the gene nanoparticles ranged from 200 nm to 400 nm, with mean zeta potential value of 53.8 ± 6.56 mV. The nanoparticles which were loaded with the dsNKG2D-IL-15 gene were uptaken by tumor cells with low cytotoxicity. Tumor cells pre-transfected by gene nanopartilces stimulated NK and T cells in vitro. Intramuscular injection of gene nanoparticles suppressed tumor growth and prolonged survival of tumor-bearing mice through activation of NK and CD8(+) T cells. Thus, chitosan-based nanoparticle delivery of dsNKG2D-IL-15 gene vaccine can be potentially used for tumor therapy.

  19. Suitability of the retrograde tracer Dil for electrophysiological studies of brainstem neurons: adverse ramifications for G-protein coupled receptor agonists.

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    Zhang, Liang; Jongeling, Amy C; Hammond, Donna L

    2007-02-15

    Despite the acknowledged advantages of studying identified populations of neurons, few studies have convincingly established that fluorescent retrograde tracers do not alter the passive membrane properties, action potential characteristics, or effects of drugs on the labeled neurons. Whole-cell patch clamp recordings were made from spinally-projecting serotonergic neurons in the rostral ventromedial medulla (RVM) and spinally-projecting noradrenergic neurons in the locus coeruleus (LC) that were retrogradely labeled with 1,1'-dioactadecyl-3,3,3',3'-tetramethylindocarbodyanine perchlorate (Dil). The passive membrane and the action potential properties of Dil-labeled (0.2%) and non-labeled serotonergic neurons in the RVM did not differ. Similarly, the passive membrane and action potential properties of non-labeled noradrenergic LC neurons did not differ from neurons labeled with 0.2% or 5% Dil. Although the mu opioid receptor agonist [D-Ala(2)-NMePhe(4)-Gly-ol(5)]enkephalin (DAMGO) produced equivalent outward currents in non-labeled noradrenergic LC neurons and those labeled with 0.2% Dil, significantly smaller currents were recorded in LC neurons labeled with 5% Dil. Baclofen, a gamma-aminobutryic acid(B) receptor agonist, also produced smaller currents in RVM neurons labeled with 5% Dil compared to 0.2% Dil. These results indicate that 0.2% Dil is suitable for retrograde labeling of brainstem neurons in vivo for subsequent in vitro electrophysiological study. However, 5% Dil is likely to confound studies of the postsynaptic actions of G-protein coupled receptor ligands.

  20. Communication Strategies Must Be Tailored to a Medication's Targeted Population: Lessons from the Case of BiDil

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    Hawkins-Taylor, Chamika; Carlson, Angeline M

    2013-01-01

    Background The American population's diversity continues to grow, and its racial and ethnic mixes are changing. The US healthcare system must confront this changing reality. The introduction of isosorbide dinitrate/hydralazine hydrochloride (BiDil) to the US marketplace was a move toward recognizing these changing consumer needs. BiDil was approved specifically as a secondary treatment for heart failure in African-American patients. It remains the first and only drug approved by the US Food and Drug Administration for a race-based indication. To ensure commercial success, a drug must be made “visible” to healthcare providers and to consumers. Objectives To describe and analyze the case of BiDil and its potential implications for drugs developed for targeted populations to help them avoid a similar fate of market withdrawal because of commercial considerations. Method This analysis is based on 12 comprehensive interviews with 5 clinical investigators, 1 minority healthcare provider, and 5 pharmaceutical representatives, as well as a review of the literature. Overall, 12 one-hour semistructured interviews were conducted. Of the 11 interviewees, 10 were interviewed once and 1 was interviewed once early in the process and then had a second interview by the end of the study. When the 12 scheduled interviews were completed, the recordings were transcribed and subjected to analysis through the use of a readily available computer software package, using concepts and themes collected from the literature and the interviewees' responses. Results The interviewees lacked consensus regarding the unique nature of BiDil. The clinical researchers considered it innovative in identifying that taking the 2 drugs together produced the greatest clinical effect in African-American patients with heart failure. For them, BiDil represented an innovation in the emerging field of personalized medicine. However, they were dismayed to see that these beliefs were challenged by the medical

  1. Communication Strategies Must Be Tailored to a Medication's Targeted Population: Lessons from the Case of BiDil.

    Science.gov (United States)

    Hawkins-Taylor, Chamika; Carlson, Angeline M

    2013-09-01

    The American population's diversity continues to grow, and its racial and ethnic mixes are changing. The US healthcare system must confront this changing reality. The introduction of isosorbide dinitrate/hydralazine hydrochloride (BiDil) to the US marketplace was a move toward recognizing these changing consumer needs. BiDil was approved specifically as a secondary treatment for heart failure in African-American patients. It remains the first and only drug approved by the US Food and Drug Administration for a race-based indication. To ensure commercial success, a drug must be made "visible" to healthcare providers and to consumers. To describe and analyze the case of BiDil and its potential implications for drugs developed for targeted populations to help them avoid a similar fate of market withdrawal because of commercial considerations. This analysis is based on 12 comprehensive interviews with 5 clinical investigators, 1 minority healthcare provider, and 5 pharmaceutical representatives, as well as a review of the literature. Overall, 12 one-hour semistructured interviews were conducted. Of the 11 interviewees, 10 were interviewed once and 1 was interviewed once early in the process and then had a second interview by the end of the study. When the 12 scheduled interviews were completed, the recordings were transcribed and subjected to analysis through the use of a readily available computer software package, using concepts and themes collected from the literature and the interviewees' responses. The interviewees lacked consensus regarding the unique nature of BiDil. The clinical researchers considered it innovative in identifying that taking the 2 drugs together produced the greatest clinical effect in African-American patients with heart failure. For them, BiDil represented an innovation in the emerging field of personalized medicine. However, they were dismayed to see that these beliefs were challenged by the medical community and their physician colleagues

  2. Feasibility of safe ultra-high (EQD{sub 2}>100 Gy) dose escalation on dominant intra-prostatic lesions (DILs) by Helical Tomotheraphy

    Energy Technology Data Exchange (ETDEWEB)

    Maggio, Angelo; Fiorino, Claudio; Mangili, Paola; Cattaneo, Giovanni Mauro; Del Maschio, Alessandro; Calandrino, Riccardo (Medical Physics, San Raffaele Scientific Inst., Milano (Italy)), e-mail: fiorino.claudio@hsr.it; Muzio, Nadia Di; Cozzarini, Cesare (Radiotherapy, San Raffaele Scientific Inst., Milano (Italy)); Cobelli, Francesco de (Radiology, San Raffaele Scientific Inst., Milano (Italy)); Rancati, Tiziana (Programma Prostata, National Inst. of Cancer, Milano (Italy))

    2011-01-15

    Purpose. To verify the possibility of using Helical Tomotherapy to safely escalate dose to single or multiple highly radioresistant dominant intra-prostatic lesions (DILs) as assessed by functional magnetic resonance imaging (MRI). Material. In seven intermediate/high risk patients, T2WI, T1WI and DWI MRI imaging showed evidence of one DIL in four patients and two DILs in three patients in the peripheral zone of the prostate. The planning strategy was to deliver median doses of 80, 90, 100 and 120 Gy to PTVDIL while delivering 71.4 Gy/28 fractions (EQD{sub 2}=75 Gy) to the remaining portion of PTV. A higher priority was assigned to rectal constraints relative to DIL coverage. Rectal NTCP calculations were performed using the most recently available model data. Results. The median dose to DIL could safely be escalated to at least 100 Gy (EQD{sub 2,{alpha}/{beta}=10}=113 Gy) without violating safe constraints for the organs at risk. Typical rectal NTCP values were around or below 1-3% for G3 toxicity and 5-7% for G2-G3 toxicity. For the 100 Gy DIL dose boost strategy, mean D95% of DIL and PTVDIL were 98.8 Gy and 86.7 Gy, respectively. The constraints for bladder, urethra and femoral heads were always respected. Conclusions. IGRT by Helical Tomotherapy may permit the safe escalation of EQD{sub 2,{alpha}/{eta}=10} to at least 113 Gy to DILs without significantly increasing rectal NTCP compared to plans without dose escalation. A Phase I-II clinical study is warranted

  3. Persistent Polyclonal B Cell Lymphocytosis B Cells Can Be Activated through CD40-CD154 Interaction

    Directory of Open Access Journals (Sweden)

    Emmanuelle Dugas-Bourdages

    2014-01-01

    Full Text Available Persistent polyclonal B cell lymphocytosis (PPBL is a rare disorder, diagnosed primarily in adult female smokers and characterized by an expansion of CD19+CD27+IgM+ memory B cells, by the presence of binucleated lymphocytes, and by a moderate elevation of serum IgM. The clinical course is usually benign, but it is not known whether or not PPBL might be part of a process leading to the emergence of a malignant proliferative disorder. In this study we sought to investigate the functional response of B cells from patients with PPBL by use of an optimal memory B cell culture model based on the CD40-CD154 interaction. We found that the proliferation of PPBL B cells was almost as important as that of B cells from normal controls, resulting in high immunoglobulin secretion with in vitro isotypic switching. We conclude that the CD40-CD154 activation pathway is functional in the memory B cell population of PPBL patients, suggesting that the disorder may be due to either a dysfunction of other cells in the microenvironment or a possible defect in another B cell activation pathway.

  4. Congenital B cell lymphocytosis explained by novel germline CARD11 mutations.

    Science.gov (United States)

    Snow, Andrew L; Xiao, Wenming; Stinson, Jeffrey R; Lu, Wei; Chaigne-Delalande, Benjamin; Zheng, Lixin; Pittaluga, Stefania; Matthews, Helen F; Schmitz, Roland; Jhavar, Sameer; Kuchen, Stefan; Kardava, Lela; Wang, Wei; Lamborn, Ian T; Jing, Huie; Raffeld, Mark; Moir, Susan; Fleisher, Thomas A; Staudt, Louis M; Su, Helen C; Lenardo, Michael J

    2012-11-19

    Nuclear factor-κB (NF-κB) controls genes involved in normal lymphocyte functions, but constitutive NF-κB activation is often associated with B cell malignancy. Using high-throughput whole transcriptome sequencing, we investigated a unique family with hereditary polyclonal B cell lymphocytosis. We found a novel germline heterozygous missense mutation (E127G) in affected patients in the gene encoding CARD11, a scaffolding protein required for antigen receptor (AgR)-induced NF-κB activation in both B and T lymphocytes. We subsequently identified a second germline mutation (G116S) in an unrelated, phenotypically similar patient, confirming mutations in CARD11 drive disease. Like somatic, gain-of-function CARD11 mutations described in B cell lymphoma, these germline CARD11 mutants spontaneously aggregate and drive constitutive NF-κB activation. However, these CARD11 mutants rendered patient T cells less responsive to AgR-induced activation. By reexamining this rare genetic disorder first reported four decades ago, our findings provide new insight into why activating CARD11 mutations may induce B cell expansion and preferentially predispose to B cell malignancy without dramatically perturbing T cell homeostasis.

  5. Postsplenectomy cytomegaloviral mononucleosis: marked lymphocytosis, TCRgamma gene rearrangements, and impaired IgM response.

    Science.gov (United States)

    Han, Xiang Y; Lin, Pei; Amin, Hesham M; Ferrajoli, Alessandra

    2005-04-01

    People who have undergone splenectomy mount a poor IgM response to bacterial polysaccharide vaccines. Whether this defect is true during natural bacterial and viral infections is unknown. We present 2 cases of postsplenectomy cytomegalovirus (CMV)-induced mononucleosis with impaired IgM but normal to augmented IgG response. The cases presented initial diagnostic challenges owing to a prolonged course of infection, marked lymphocytosis (peak lymphocyte count, 27,900/microL [27.9 10(9)/L]), clonal T-cell proliferation with T-cell receptor g gene rearrangements, and remote history of splenectomy. However, the acute nature of the infections, serial determinations of the anti-CMV IgM and IgG, exclusion of other causes, and detection of CMV in the blood established the diagnosis and revealed the deranged antibody response. The infections resolved without specific treatment. These cases suggest that the spleen might be a primary site for specific anti-CMV IgM response.

  6. Early ROS-mediated DNA damage and oxidative stress biomarkers in Monoclonal B Lymphocytosis.

    Science.gov (United States)

    Collado, Rosa; Oliver, Isabel; Tormos, Carmen; Egea, Mercedes; Miguel, Amparo; Cerdá, Concha; Ivars, David; Borrego, Silvia; Carbonell, Felix; Sáez, Guillermo T

    2012-04-28

    Monoclonal B Lymphocytosis (MBL) is defined as asymptomatic monoclonal B-cell expansion characterised by a CLL-phenotype, but with less than 5×10(9)/l circulating cells. Reactive oxygen species (ROS)-mediated cell damage plays a critical role in the initiation of carcinogenesis as well as in malignant transformation. The goal of this study was to perform an analysis of the oxidative stress statuses of patients affected by MBL and chronic lymphocytic leukaemia (CLL). We examined peripheral blood and urine specimens from 29 patients with MBL, 55 with CLL and 31 healthy subjects. There was a significant increase in the occurrence of the mutagenic base 8-oxo-2'-deoxiguanosine (8-oxo-dG) in the lymphocytes and urine of MBL and CLL patients compared with controls. Significant differences were also observed in the levels of the lipid peroxidation product malondialdehyde (MDA) and in the oxidised/reduced glutathione (GSSG/GSH) ratio, although an increase in 8-isoprostane was not detected. Interestingly, the antioxidant catalase activity of circulating lymphocytes decreased in the patient groups. In conclusion, early oxidative stress exists in patients with MBL and CLL, causing damage to DNA and lipid structures. The higher levels of 8-oxo-dG in lymphocytes than in urine may be related to a decrease in the capacity of DNA repair systems. There were no differences in the oxidative statuses of the MBL and CLL patients, suggesting that oxidative injuries appear during a pre-leukaemic state of the disease.

  7. Temperature Excursion Analysis of DIL5520 Dual Induction Logging Tool%DIL5520双感应测井仪温漂及测井问题分析

    Institute of Scientific and Technical Information of China (English)

    陈草棠; 吕超英; 徐忠清

    2011-01-01

    DIL5520双感应测井仪在测井时存在温漂问题,即在高电阻率井段测井曲线重复性不好.对DIL5520双感应测井仪的基值温漂指标进行分析,认为常规感应仪器遇高电阻率地层重复性不好是仪器本身指标无法满足要求,DIL5520双感应测井仪器可通过改变加温工艺提高其稳定性.提出了解决温漂问题的方法,如改变加温工艺流程,增加100℃记录点;在各温度点恒温30min;在仪器加温前,将线圈系用硅油充分浸泡;进行软件温度补偿等.DIL5520双感应测井仪在中高电阻率地层存在测井值偏低或偏高及有时出现跳尖和重复性不好的问题,可通过在井下布置多个发射和接收线圈改善感应测井的探测性能.为保证仪器的重复性,在感应测井时要按规定安装扶正器;对于井径较大的井段,只有通过校正图版校正.%The logging curve repeatability of DIL5520 dual induction logging tool is unsatisfactory in high resistivity formation because of the temperature excursion in logging. Conventional induction logging tool with bad repeatability is due to its configuration, but for DIL5520 dual induction logging tool, we can improve its stability by changing warming processes. Proposed is 4 ways to improve its repeatability:① increase 100 "C reporting spot; ② keep each temperature for 30 min; ③ fully soap the coil array in silicone oil before warming the tool, and do software temperature compensation, etc. To solve the problems such as abnormal log values and unsatisfactory curve repeatability in middle and high resistivity formation logging with the DIL5520 tool, the ideal solution is to put several emission and receiving coils downhole to improve its detection performance. For induction logging, we should assemble centralizer according to regulation to ensure logging curve repeatability. As for wells with bigger borehole diameter, the calibration chart is needed to guarantee the log data correction.

  8. Natural History Study of Monoclonal B Cell Lymphocytosis (MBL), Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma (CLL/SLL), Lymphoplasmacytic Lymphoma (LPL)/Waldenstrom Macroglobulinemia (WM), and Splenic Marginal Zone Lymphoma (SMZL)

    Science.gov (United States)

    2017-10-05

    B-Cell Chronic Lymphocytic Leukemia; Monoclonal B-Cell Lymphocytosis; Lymhoma, Small Lymphocytic; Chronic Lymphocytic Leukemia; Lymphoplasmacytic Lymphoma; Waldenstrom Macroglobulinemia; Splenic Marginal Zone Lymphoma

  9. Zihin Kuramı ve Dil Arasındaki İlişki: Bir Derleme

    Directory of Open Access Journals (Sweden)

    Bahar Keçeli Kaysılı

    2014-08-01

    Full Text Available Diğerlerinin duygularını, düşüncelerini ve isteklerini anlama yani zihin kuramı başarılı bir iletişim için gereklidir. Bu derleme çalışmasında normal gelişen çocuklarda zihin kuramı ve dil ilişkisi ele alınmıştır. Zihin kuramı kazanımını açıklayan teorilerden biri sözdizimi ve zihinsel durum ifade eden eylemlerin, yanlış inancın temsiline olanak sağladığını belirterek bu ilişkiyi incelemektedir. Bu varsayım dil ile zihin kuramı arasındaki ilişkinin doğasını tanımladığı için önemli görülmektedir. Alanyazından derlenen bu çalışmanın çocukların iletişim ve dil gelişimlerini desteklemede, öğretmenlere yol göstereceği düşünülmektedir. Understanding of others’ feelings, thoughts and wishes or a ‘theory of mind’ is essential for competent communication. This study described how language and theory of mind development are related in typically developing children. One of the hypothesis that explains the acquisition of theory of mind, proposed that syntax and mental states verbs provides children to understand representational thoughts like false belief. Because this hypothesis aimed to identify more specifically the nature of this role it is thought to be important. This review of selected literature will help teachers enhance children’s communication and language development.

  10. Chronic Localized Fibrosing Leukocytoclastic Vasculitis Associated With Lymphedema, Intralymphatic and Intravascular Lymphocytosis, and Chronic Myelogenous Leukemia: A Case Report of Unilateral Erythema Elevatum Diutinum.

    Science.gov (United States)

    Atallah, Juliana; Garces, Juan C; Loayza, Enrique; Carlson, John A

    2017-06-01

    One of the pathogenic causes of cutaneous inflammatory pseudotumors is chronic localized fibrosing leukocytoclastic vasculitis (CLFLCV), a vasculitic reaction pattern seen in granuloma faciale (GF), a localized vasculitis, and erythema elevatum diutinum (EED), a generalized vasculitis. Patients with myelodysplastic syndromes (MDSs) are at risk for a diverse spectrum of cutaneous neutrophilic dermatoses such as EED. Herein, we report a 74-year-old man who presented with a large ulcerative, fungating tumor affecting the right flexor ankle caused by CLFLCV. During his workup and management, MDS and Philadelphia chromosome-negative chronic myeloid leukemia was diagnosed. Surgical excision of the inflammatory mass promptly triggered tumor recurrence, whereas antineutrophil therapy (dapsone coupled with hydroxyurea, and prednisone) lead to tumor regression. Histopathologic examination revealed an eosinophilic-rich small-vessel neutrophilic vasculitis associated with storiform and angiocentric fibrosis (GF-like). In the regions of fibrosis, dilated lymphatic and vascular spaces were numerous, some of which were congested with small CD3-positive lymphocytes (intralymphatic and intravascular lymphocytosis). These findings indicate coexisting localized lymphedema. By direct immunofluorescence, IgM and C4d vessel deposits were detected. The pathogenesis of the fibrotic nodules and plaques of CLFLCV is suspected to be due to recurring bouts of immune-complex vasculitis, creating a cycle of vessel damage followed by reparative granulation tissue. Poor lymphatic drainage may be the underlying factor initiating and maintaining recurrent, localized episodes of immune-complex vasculitis and progressive fibrosis. Although his tumor histopathology resembled GF-eosinophilic rich CLFLCV-the clinical context points to a solitary and paraneoplastic case of EED.

  11. Confusional State in HaNDL Syndrome: Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Sarah Nelson

    2013-01-01

    Full Text Available The syndrome of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis (HaNDL syndrome is a self-limited condition. Confusional states are uncommonly reported as a clinical manifestation of this syndrome. Here, I report a 76-year-old female who presented with headache, confusion, and agitation with a mild CSF lymphocytosis. Other workup to determine the cause of her altered mental status was otherwise negative. The literature available in the English language on HaNDL syndrome is reviewed, including its history, pathophysiology, possible associations with migraine and stroke, and previously reported cases of confusional states in this syndrome. While HaNDL syndrome has been a described entity since the 1980s, its pathophysiology has yet to be clearly defined.

  12. Yabancı Dil Olarak Arapça Öğretiminde WhatsApp Kullanımı

    OpenAIRE

    ŞEN YAMAN, Gül

    2016-01-01

    Bilgi ve İletişim Teknolojileri (BİT) kullanmak dil öğrenme becerilerini geliştirme açısından büyük bir etkiye sahiptir. Yabancı dil eğitiminde kullanılan son eğilimlerden birisi de WhatsApp gibi sosyal ağların kullanılmasıdır. Bu durum son yıllarda özellikle yabancı dil eğitiminde çok popüler hale gelmiştir. WhatsApp kullanımı hayatımızda önemli bir role sahiptir. Aynı zamanda eğitim alanında bize yardımcı olmaktadır. WhatsApp uygulaması çeşitli özellikleri yanı sıra işbirlikçi dil öğrenimin...

  13. Spontaneous Bacterial Peritonitis Caused by Listeria monocytogenes Associated with Ascitic Fluid Lymphocytosis: A Case Report and Review of Current Empiric Therapy

    Directory of Open Access Journals (Sweden)

    Todd Yecies

    2013-01-01

    Full Text Available Spontaneous bacterial peritonitis (SBP is a potentially deadly complication of ascites. We describe a case of SBP caused by Listeria monocytogenes in a patient with alcoholic cirrhosis. This was associated with the unusual finding of ascitic fluid lymphocytosis, which previously had only been associated with tuberculoid or malignant ascites. Given increasing rates of cefotaxime-resistant SBP alongside the possibility of Listeriosis, the use of cefotaxime as first-line therapy in SBP should be reevaluated.

  14. The importance of surface immunoglobulin, mouse rosettes, and CD5 in the immunophenotyping of chronic lymphocytic leukemia and reactive lymphocytosis.

    Science.gov (United States)

    Batata, A; Shen, B

    1991-07-15

    Peripheral blood from 167 B-chronic lymphocytic leukemia (B-CLL) and 119 reactive lymphocytosis (RLC) patients were analyzed to evaluate the immunophenotypic diagnostic value of mouse rosettes (M-rosette), and weak expression of monoclonal surface immunoglobulin (SIg). In B-CLL, 145 cases were M-rosette+ (86.83%), 135 surface immunoglobulin (SIg)+ (80.84%), and 117 M-rosette+ SIg+ (70.06%). Of 32 SIg- cases, 28 were M-rosette+; and of 22 M-rosette-cases, 18 were SIg+. By combining results of the two assays and accepting positivity of either one or both as sufficient for diagnosis, B-CLL was diagnosed in 163 cases (97.60%). CD5 was performed in 49 cases of the 167 with paired data for SIg and M-rosettes. By combining the results of the three assays and accepting positivity of any two or all three as sufficient for diagnosis, all 49 cases (100%) were diagnosed. Correlation analysis showed no significant association between M-rosette, SIg, and CD5 expression. The results demonstrate the independent expression of the three markers, and their complementary role in immunophenotyping B-CLL. In RLC, all 119 cases were T-lineage and SIg-, and 115 were M-rosette-, indicating the role of the two markers in differentiating B-CLL from RLC. Three of the four M-rosette+ T-RLC were subsequently diagnosed as B-CLL, suggesting the necessity of follow-up of such cases.

  15. Otizm Spektrum Bozukluğu Olan Çocukların Sosyal İletişim Becerileri ve Dil Gelişim Özellikleri

    Directory of Open Access Journals (Sweden)

    Meral Çilem Ökcün-Akçamuş

    2016-08-01

    Full Text Available Dil ve iletişim alanında yaşanan güçlükler, otizm spektrum bozukluğunun (OSB tanı ölçütlerinden birisidir ve bu güçlükler OSB olan çocuklarda otizmin şiddetini belirleyen önemli bir değişken olarak ele alınmaktadır. OSB olan çocukların dil gelişiminde heterojen bir yapı olduğu kabul edilmektedir. OSB olan bazı çocuklar sözel dili hiç edinemezken, bazı çocuklarda normal gelişim gösteren akranlarına yakın bir sözel dil kullanım örüntüsü görülebilmektedir. Bu derleme çalışmasında OSB olan çocukların dil ve iletişim becerilerine ilişkin gelişimsel özellikleri incelenmiştir. OSB olan çocuklarda söz öncesi dönemde sözel olmayan sosyal iletişim becerilerine, sözel dil döneminde dilin bileşenlerine ilişkin sendroma özgü gelişimsel özellikler/bozukluklar görülmektedir. Bu nedenle bu derleme çalışmasında OSB olan çocukların söz öncesi dönemde sözel olmayan sosyal iletişim becerilerine yönelik gelişimleri ele alınacaktır. Bunun yanı sıra sözel dil döneminde olan OSB olan çocukların dilin biçimbirim bilgisi/sözdizimi, anlam bilgisi ve kullanım bilgisi bileşenlerine yönelik gelişimsel özellikleri incelenecektir. Alanyazından derlenen bu çalışmanın OSB olan çocuklarda dil gelişimi üzerine çalışan öğretmenlere ve araştırmacılara yol göstereceği düşünülmektedir. Difficulties in language and communication are diagnostic criteria of autism spectrum disorders (ASD and these difficulties are taken as an important variable in determining the severity of the disorder for the children with ASD. It is accepted that language development of children with ASD is heterogeneous. While some of the children can never acquire language, some of them may show language use similar to their peers with typical development. In this review developmental characteristics of children with ASD in language and communication skills are examined. Children with ASD show

  16. Persistent γδ T large granular lymphocytosis in a patient with refractory pure red cell aplasia, celiac disease, and chronic hepatitis B infection

    Directory of Open Access Journals (Sweden)

    S Sreedharanunni

    2016-01-01

    Full Text Available The disorders of large granular lymphocytes include reactive proliferation as well as indolent or aggressive neoplasms of cytotoxic T cells, γδ T cells, and natural killer (NK cells. They are associated with autoimmune and infectious disorders and have varied immunophenotypic features. We report a case, which highlights this complex association of autoimmune and infectious diseases with large granular lymphocytosis, the overlapping spectrum of large granular lymphocyte leukemias, and γδ T cell lymphomas as well as the difficulties in the diagnosis and management of these indolent T cell lymphomas in the usual clinical settings.

  17. Persistent γδ T large granular lymphocytosis in a patient with refractory pure red cell aplasia, celiac disease, and chronic hepatitis B infection.

    Science.gov (United States)

    Sreedharanunni, S; Sachdeva, Mus; Prakash, G; Das, R

    2016-01-01

    The disorders of large granular lymphocytes include reactive proliferation as well as indolent or aggressive neoplasms of cytotoxic T cells, γδ T cells, and natural killer (NK) cells. They are associated with autoimmune and infectious disorders and have varied immunophenotypic features. We report a case, which highlights this complex association of autoimmune and infectious diseases with large granular lymphocytosis, the overlapping spectrum of large granular lymphocyte leukemias, and γδ T cell lymphomas as well as the difficulties in the diagnosis and management of these indolent T cell lymphomas in the usual clinical settings.

  18. Türk Dil Kurumu Kütüphanesi Yz. A. 210 Numarada Kayıtlı Lügat Mecmuası Üzerine Bir Değerlendirme
    An Assessment On Dictıonary Corpus Registered On Yz. A 210 Turk Dil Kurumu Library

    OpenAIRE

    Arslan, Mustafa

    2013-01-01

    In this study we mention dictionary corpuses that have not been studied much before. It is possible to find that dictionary corpuses in which some of the dictionaries memorized and studied as text books in medresseh are brought together in the same manuscript. Manuscripts found in Turk Dil Kurumu Library are fully sufficient in dictionaries and dictionary corpuses. In this paper the most voluminous one is chosen and studied. Dictionaries are specialised dictionaries and works written to teach...

  19. Minimizing risks and monitoring safety of an antenatal care intervention to mitigate domestic violence among young Indian women: The Dil Mil trial.

    Science.gov (United States)

    Krishnan, Suneeta; Subbiah, Kalyani; Chandra, Prabha; Srinivasan, Krishnamachari

    2012-11-01

    Domestic violence - physical, psychological, or sexual abuse perpetrated against women by one or more family members - is highly prevalent in India. However, relatively little research has been conducted on interventions with the potential to mitigate domestic violence and its adverse health consequences, and few resources exist to guide safety planning and monitoring in the context of intervention research. Dil Mil is a promising women's empowerment-based intervention developed in India that engages with young women (daughters-in-law) and their mothers-in-law to mitigate domestic violence and related adverse health outcomes. This paper describes the design of a randomized controlled trial of Dil Mil in Bengaluru, India, with a focus on strategies used to minimize study-related risks and monitor safety. A phase 2 randomized controlled trial using a parallel comparison of the Dil Mil intervention versus standard care will be implemented in three public primary health centers in Bengaluru. Young pregnant women in the first or second trimester of pregnancy will be recruited from antenatal services at study health centers and through community outreach. If eligible and willing, their mother-in-law will also be recruited. Once enrolled, dyads will participate in a baseline interview and then randomized either to the control arm and receive standard care or to the intervention arm and receive standard care plus the Dil Mil intervention. Additional evaluations will be conducted at 3 months and 6 months postpartum. Data will be analyzed to examine the feasibility and safety of the intervention and the effect of the intervention on intermediary outcomes (the empowerment of daughters-in-law and mothers-in-law), incidence of domestic violence among daughters-in-law, and health outcomes including perceived quality of life, psychosocial status and maternal and infant health outcomes. This study offers approaches that may help guide safety planning and monitoring in other

  20. Minimizing risks and monitoring safety of an antenatal care intervention to mitigate domestic violence among young Indian women: The Dil Mil trial

    Directory of Open Access Journals (Sweden)

    Krishnan Suneeta

    2012-11-01

    Full Text Available Abstract Background Domestic violence - physical, psychological, or sexual abuse perpetrated against women by one or more family members – is highly prevalent in India. However, relatively little research has been conducted on interventions with the potential to mitigate domestic violence and its adverse health consequences, and few resources exist to guide safety planning and monitoring in the context of intervention research. Dil Mil is a promising women’s empowerment-based intervention developed in India that engages with young women (daughters-in-law and their mothers-in-law to mitigate domestic violence and related adverse health outcomes. This paper describes the design of a randomized controlled trial of Dil Mil in Bengaluru, India, with a focus on strategies used to minimize study-related risks and monitor safety. Methods/design A phase 2 randomized controlled trial using a parallel comparison of the Dil Mil intervention versus standard care will be implemented in three public primary health centers in Bengaluru. Young pregnant women in the first or second trimester of pregnancy will be recruited from antenatal services at study health centers and through community outreach. If eligible and willing, their mother-in-law will also be recruited. Once enrolled, dyads will participate in a baseline interview and then randomized either to the control arm and receive standard care or to the intervention arm and receive standard care plus the Dil Mil intervention. Additional evaluations will be conducted at 3 months and 6 months postpartum. Data will be analyzed to examine the feasibility and safety of the intervention and the effect of the intervention on intermediary outcomes (the empowerment of daughters-in-law and mothers-in-law, incidence of domestic violence among daughters-in-law, and health outcomes including perceived quality of life, psychosocial status and maternal and infant health outcomes. Discussion This study offers

  1. Monoclonal B-cell lymphocytosis (MBL) with normal lymphocyte counts is associated with decreased numbers of normal circulating B-cell subsets.

    Science.gov (United States)

    Hauswirth, Alexander W; Almeida, Julia; Nieto, Wendy G; Teodosio, Cristina; Rodriguez-Caballero, Arancha; Romero, Alfonso; López, Antonio; Fernandez-Navarro, Paulino; Vega, Tomas; Perez-Andres, Martin; Valent, Peter; Jäger, Ulrich; Orfao, Alberto

    2012-07-01

    Monoclonal B-cell lymphocytosis (MBL) with normal lymphocyte counts is associated with decreased numbers of normal circulating B-cell subsets.Little is known about the distribution of normal lymphoid cells and their subsets in the peripheral blood (PB) of subjects with monoclonal B-cell lymphocytosis (MBL). In our study, we compared the absolute number of PB lymphoid cells and their subpopulations in 95 MBL cases with normal lymphocyte counts vs. 617 age-/sex-matched non-MBL healthy subjects (controls), using highly sensitive flow cytometry. MBL cases showed significantly reduced numbers of normal circulating B-cells, at the expense of immature and naive B-cells; in addition, CD4+CD8+ double-positive T-cells and CD8+ T-cells were significantly lower and higher vs. controls, respectively. Moreover, most normal B-cell subsets were significantly decreased in PB at >1% MBL-counts, vs. "low-count" MBL cases, and lower amounts of immature/naive B-cells were detected in biclonal (particularly in cases with coexisting CLL-like- and non-CLL-like B-cell clones) vs. monoclonal MBL subjects. In summary, our results show imbalanced (reduced) absolute numbers of recently produced normal circulating B-cells (e.g., immature and naıve B-cells) in MBL, which becomes more pronounced as the MBL cell count increases.

  2. Lymphocytic alveolitis: A surprising index of poor prognosis in patients with primary Sjogren's syndrome.

    Science.gov (United States)

    Dalavanga, Y A; Voulgari, P V; Georgiadis, A N; Leontaridi, C; Katsenos, S; Vassiliou, M; Drosos, A A; Constantopoulos, S H

    2006-07-01

    Twelve years ago we reported that lymphocytic alveolitis [or bronchoalveolar lavage (BAL) lymphocytosis] correlates with clinical pulmonary involvement in primary Sjogren's syndrome (pSS). Our thesis was based on subtle clinical and functional evidence of interstitial lung disease (ILD) in pSS patients with "high lymphocytic alveolitis" (>15% lymphocytes in BAL). This report is a follow-up study of these patients. Basic clinical and functional re-evaluation of the 22 patients with pSS, studied in 1991, emphasized the differences between those with alveolitis and those without alveolitis. There was no significant functional decline. There were, however, two statistically significant differences between the two groups: (1) only patients with BAL lymphocytosis had to be treated with steroids (5/12 vs. 0/10, P < 0.05) and (2) only patients with BAL lymphocytosis had died in the mean time (6/12 vs. 0/10, P < 0.01). The causes of death were various. On only two occasions were they related to respiratory infections while there were no deaths from respiratory failure secondary to ILD. BAL lymphocytosis appears to be a surprisingly serious index of dismal prognosis in patients with pSS. We offer no unifying pathophysiologic mechanism for it and, therefore, all we propose is that BAL is performed early, in as many patients with pSS as possible. These patients should then be followed up systematically, in order to evaluate if BAL lymphocytosis has any pathophysiologic importance in the development of clinically serious pSS, which is serious enough to lead to death.

  3. Cemal Süreya Şiirinde Dil Sapmaları Linguistic Deviation In The Poetries Of Cemal Süreya

    Directory of Open Access Journals (Sweden)

    Abdullah HARMANCI

    2013-07-01

    Full Text Available It is a fact that one of the most frequently referred methods to raise colloquial language and ordinary language to the literal and fictional language level and to expand literary text/poetry opportunities is “language deviations” Especially, since 1950s, it was started tobenefit from “language deviations” in our poetries that we may defineordinary language rules as writing, phonetic, word, expression,grammar, change in semantic levels. The Second New Poetry that hasbeen effective in our literature for some researchers between 1954 and1959 and for some researchers between 1953 and 1963 put the literaryarts, imaginative pronunciation, abstract language, closed-formexpression and language experience deliberatively ignored by the GaripPoetry Movement at forefront and pushed the limits of language. Heattempted to expand opportunities of Turkish, so largely benefited fromlinguistic deviations. Cemal Süreya who had been one of the importantrepresentatives of the Second Poetry applied these methods in hispoems. In this article, after the theoretical knowledge about the SecondNew Poetry and linguistic deviations, all the poems of Cemal Süreyawere reviewed and linguistic deviations we determined in poetries weresampled, and it was attempted to discuss why the poet needed thismethod, what kind of effects of linguistic deviations have been in hispoetry. Deviations used from the poetry of Cemal Süreya; wereattempted to be examined under seven titles; writing deviations,phonetic deviations, word deviations, grammar deviations,interventions to borrowed texts, meaning deviations or extraordinarysyncretism. Gündelik, ortalama dili; edebi, kurmaca dil seviyesine yükseltmek, edebî metnin/şiirin imkânlarını genişletmek amacıyla şair ve yazarlar tarafından sıkça başvurulan yöntemlerden birinin de “dil sapmaları” olduğu bir gerçektir. Dilin alışılmış kurallarını; yazım, ses, kelime, ifade, dilbilgisi, anlam düzeylerinde de

  4. Gelişimsel Yetersizliği Olan Çocukların Annelerinin, Dil Edinimine ve Dilin Desteklenmesine İlişkin Görüşlerinin İncelenmesi

    Directory of Open Access Journals (Sweden)

    Ceyhun Servi

    2016-04-01

    Full Text Available Bu çalışmada, annelerin gelişimsel yetersizliği olan çocuklarının dil edinimine, dil gelişimlerinin desteklenmesine ve çocuklarının iletişim ve dil performanslarına ilişkin düşünceleri incelenmiştir. Çalışmaya, gelişimsel geriliği bulunan ve yaşları 30-60 aylar arasında çocuğu olan 14 anne katılmıştır. Annelerin eğitim düzeyleri en az lise mezunu olarak belirlenmiştir. Çocukların hepsinde iletişim ve dil ile ilgili gerilik bulunmaktadır. Araştırmada yarı yapılandırılmış görüşme tekniği ile veriler toplanmıştır. Annelere, dil edinimine, çocuklarının dil ve iletişim performanslarına ve dil gelişimi desteklenmesine yönelik görüşleri sorulmuştur. Anneler, dil ve iletişim becerilerinin çocuklar tarafından taklitle, herhangi bir etki olmadan kendi başlarına ya da çevre ile sosyal etkileşime girilerek edinildiğini ifade etmişlerdir. Dil ve iletişim becerilerini desteklemede, taklide dayalı tekniklerin, çocuğun ilgisini çeken etkinliklerin ve doğal yöntemlerin etkili olduğunu dile getirmişlerdir. Çocuklarının dil ve iletişim performanslarını ise alıcı dili iyi ifade edemiyor, sözel dili tercih etmiyor ve söylediklerimizi anlamıyor Ģeklinde belirtmişlerdir. Sonuç olarak anneler, çocukların dil ediniminde taklidin etkili olduğunu ve çocuklarının söylenenleri anladıklarını ancak sözel olarak ifade edemediklerini düşünmektedirler. This study examined the views of mothers on the language acquisition and their children‟s language performance. Also mothers‟ views in supporting language development and communication skills has been investigated. The participants were 14 mothers who had children having developmental disabilities and their children aged between 30-60 months old. The education levels of the mothers were at least high school. All children had disability related to communication and language. In the study, the data were gathered

  5. Hydralazine Induced Lupus Syndrome Presenting with Recurrent Pericardial Effusion and a Negative Antinuclear Antibody

    OpenAIRE

    Praneet Iyer; Ahmed Dirweesh; Ritika Zijoo

    2017-01-01

    Drug induced lupus erythematosus (DIL or DILE) is an autoimmune disorder caused by chronic use of certain drugs. We report a unique case of hydralazine induced lupus syndrome (HILS) with a negative antinuclear antibody in a female patient who was on hydralazine for a period of 1.5–2 years and developed recurrent pericardial effusion as a result of it. Initially her condition was managed with a pericardial window. The recurrence of a massive pericardial effusion necessitated a right hemiperica...

  6. Dil Öğreniminde ve Öğretiminde Tiyatronun Kullanımı ve Tiyatronun Temel Dil Becerilerine Katkısı The Use Of Theatre In Teaching Of Language And The Contributions Of Theatre To Basic Language Skills

    Directory of Open Access Journals (Sweden)

    Müzeyyen ALTUNBAY

    2012-12-01

    ıkmıştır. Bunlardan bir tanesi olan dil öğrenimi ve öğretimi, son yıllarda üzerinde en çok durulan ve en çok çalışılan konularından bir tanesi olup dünyayla ve diğer toplumlarla anlaşmanın en önemli yolu olarak algılanmaktadır. Dil öğreniminde ve öğretiminde çok değişik yöntem ve tekniklerin varlığı mevcuttur. Dil öğreniminde ve öğretiminde önemli olan uygun öğrenme modelinin ve yönteminin tespit edilebilmesidir. Öğrenmede asıl başarı bilinçli çabalarla ve doğru yöntemin tespitiyle sağlanabilir. Bu nedenle çağımızın en önemli konularından bir tanesi olan dil öğretiminde ve öğreniminde çeşitli yöntem ve teknikler geliştirilmiştir. Mevcut yöntem ve tekniklerle beraber her geçe gün yeni yaklaşımlar da ortaya çıkmakta ve kullanılmaktadır. Bunlardan bir tanesi de tiyatro ile öğrenimdir. Tiyatro aracılığı ile dil öğrenimde ve öğretiminde tiyatronun kullanımı üzerinde çok durulmamakta, ancak tiyatronun temel dil becerilerini etkilediği ve geliştirdiği bilinmektedir. Bu çalışmada dil öğreniminde ve öğretiminde tiyatronun kullanımı ile tiyatronun temel dil becerilerine katkısı ele alınmıştır.

  7. Prognostic value of miR-155 in individuals with monoclonal B-cell lymphocytosis and patients with B chronic lymphocytic leukemia.

    Science.gov (United States)

    Ferrajoli, Alessandra; Shanafelt, Tait D; Ivan, Cristina; Shimizu, Masayoshi; Rabe, Kari G; Nouraee, Nazila; Ikuo, Mariko; Ghosh, Asish K; Lerner, Susan; Rassenti, Laura Z; Xiao, Lianchun; Hu, Jianhua; Reuben, James M; Calin, Steliana; You, M James; Manning, John T; Wierda, William G; Estrov, Zeev; O'Brien, Susan; Kipps, Thomas J; Keating, Michael J; Kay, Neil E; Calin, George A

    2013-09-12

    Noncoding RNAs play a pivotal role in the pathogenesis of chronic lymphocytic leukemia (CLL). We hypothesized that microRNAs (miRs) are involved in the transition from monoclonal B-cell lymphocytosis (MBL) to CLL and tested miR-15a/16-1 cluster, miR-21, and miR-155 expression in purified B cells of normal individuals, individuals with MBL, and patients with CLL. When we analyzed 224 samples from 2 independent training and validation cohorts, we found that miR-155 was overexpressed in B cells from individuals with MBL, and even more so in B cells from patients with CLL, when compared with B cells from normal individuals. Furthermore, we were able to identify miR-155 in circulating microvesicles from both individuals with MBL and patients with CLL. Next, to examine the prognostic role of miR-155, we measured its expression level in plasma samples collected before treatment initiation in 228 patients with CLL. We found significantly higher miR-155 expression levels in patients who failed to achieve a complete response compared with those who experienced complete response. Our findings support the use of cellular and plasma levels of miR-155 as biomarkers for the risk of progression in individuals with MBL, as well as to identify patients with CLL who may not respond well to therapy.

  8. Hospital population screening reveals overrepresentation of CD5(-) monoclonal B-cell lymphocytosis and monoclonal gammopathy of undetermined significance of IgM type.

    Science.gov (United States)

    Voigtlaender, Minna; Vogler, Birthe; Trepel, Martin; Panse, Jens; Jung, Roman; Bokemeyer, Carsten; Bacher, Ulrike; Binder, Mascha

    2015-09-01

    Monoclonal B-cell lymphocytosis (MBL) and monoclonal gammopathy of undetermined significance (MGUS) result from clonal expansions of mature B or plasma cells. Here, we set out to determine the immunophenotypic/monoclonal immunoglobulin (M protein) features and co-prevalence of MBL and MGUS in a hospital-based cohort of 1909 non-hematooncological patients. Of the evaluable cases, 3.8 % showed evidence for MBL by immunophenotyping, while 9.8 % were screened positive for M protein by immunofixation. With six concomitant cases (0.4 %), MBL and MGUS were not statistically associated. At least in two of these coincident cases, MBL and MGUS were of different clonal origin since both clones had divergent light chain restriction. CD5(-) MBL (57.1 %) and IgM+ MGUS (24.7 %) were strikingly overrepresented compared to population-based screenings and did not progress to overt lymphoma or myeloma during the observation period (mean follow-up of 117 weeks or 110 weeks, respectively). Prevalence and phenotypes suggest that a substantial proportion of incidental MBL and MGUS in hospitalized patients may be attributed to transiently expanded B-cell clones in the context of disease-related immune stimulation rather than reflecting veritable precursors of clonal B-cell malignancies.

  9. Mantıku’t-Tayr’da Temel Dil Becerilerinin Kullanımı Basic Language Skills In Mantıku’t-Tayr

    Directory of Open Access Journals (Sweden)

    Selcen ÇİFÇİ

    2013-07-01

    and fruitful to utilise this kind of sources in thedesign and execution of the relevant curricula. Günümüzde, temel dil becerileri örgün eğitim kurumlarında Türkçe öğretimi programı içerisinde verilirken; geçmişte, ana dili öğretimi yapan okulların henüz var olmadığı dönemlerde, edebî metinlerde örtük olarak yer almıştır. Anlama becerilerinden dinleme ve okuma ile anlatma becerilerinden konuşma ve yazma becerileri kültür aktarımı yoluyla edebî metinlerden okuyucusuna ulaşmayı başarmıştır.Bu çalışmada XIV. yüzyıl Eski Anadolu Türkçesi eserlerinden olan Mantıku’t-tayr’daki temel dil becerileri tespit edilmiş ve tespit edilen becerilerin Türkçe Dersi (6, 7, 8. sınıflar Öğretim Programı’ndaki kazanımlarla örtüşme düzeyi ortaya konmuştur. Çalışma doküman incelemesine dayalı olarak yapılmış, eserdeki 4440 beytin tamamı taranmış, bu tarama sonucunda temel dil becerileriyle ilgili 878’i konuşma, 38’i yazma, 76’sı dinleme ve 79’u okuma olmak üzere toplam 1070 beyit tespit edilmiş, ilgili olmayan beyitler değerlendirmeye alınmamıştır. Eserde dinleme becerisinin daha çok işitme/duyma (49 beyit yönüyle kullanıldığı görülmüştür. Dinleme sırasında söylenen sözlerin dikkate alınması ve dikkatle dinlenmesi gerektiği vurgulanmıştır. Yine iyi dinlemenin, söyleneni anlamanın temeli olduğu belirtilmiştir. Eserde en çok, konuşma becerisiyle ilgili beyit tespit edilmiştir. Söz söylerken güzel konuşmanın önemi, sorulara düzgün ve vaktinde cevap verme, sorunlara konuşarak çözüm arama, kendi konuşmasını değerlendirme vurgulanmıştır. Okuma sırasında sadece aynı eseri okumak yerine bu eseri destekleyecek başka eserleri de okumanın önemi üzerinde durulmuştur. Yazma becerisi daha çok yazı türleri ve yazı materyallerinden bahsedilerek işlenmiştir. Eserde yer alan temel dil becerileriyle ilgili beyitler incelendiğinde, bu becerilerin T

  10. İşitme Engelli Bir Çocuğun Okuma Yazma Becerilerinin Dil Deneyim Yaklaşımı İle Desteklenmesi

    Directory of Open Access Journals (Sweden)

    H. Pelin Karasu

    2015-01-01

    Full Text Available Dil Deneyim Yaklaşımı; dinleme, konuşma, okuma ve yazma becerilerinin bir arada kullanılması ve okuma materyallerinin öğrencilerin deneyimleriyle oluşturulması temeline dayanmaktadır. Bu araştırmanın amacı, işitme engelli bir çocuğun okuma yazma becerilerinin gelişiminin Dil Deneyim Yaklaşımı ile desteklenme sürecinin incelenmesidir. Araştırma, bu amaç doğrultusunda, eylem araştırması şeklinde desenlenmiştir. Araştırmanın katılımcıları; araştırmacı öğretmen, geçerlik komitesi üyeleri, ilkokul 2. sınıfa devam eden işitme engelli bir öğrenci ve sınıf öğretmenidir. Araştırma verileri; araştırmacı günlüğü, belgeler, görüşmeler, uygulama planları, uygulama videoteyp kayıtları ve formel olmayan değerlendirmeler kullanılarak elde edilmiştir. Araştırma bulguları, sürecin iki evrede gerçekleştiğini göstermektedir. Bu evreler; sıralı kartlardaki olayların sözlü ve yazılı dille paylaşılması ile kelime bankası ve sözdizimi etkinliğidir. Araştırma sonuçları; dil deneyim uygulamalarının sözlü dilin gelişmesi için fırsatlar sağladığını, sözel ipuçlarının kullanılmasına, düşüncelerin sözlü ve yazılı dille ifade edilmesine olanak verdiğini, sözcük dağarcığı ve sözdizimine ilişkin ihtiyaçların belirlenmesini sağlayarak öğrencinin düzeyine uygun etkinliklerin hazırlanmasına fırsat sağladığını göstermektedir.Anahtar Sözcükler: Dil deneyim yaklaşımı, okuma yazma becerileri, işitme engelli çocuk Supporting a Hearing Impaired Child’s Literacy Development With Language Experience Approach Abstract Language Experience Approach (LEA emphasizes the synergy among listening, speaking, reading and writing skills and suggests considering learners’ experiences while preparing reading materials. The aim of the current study is to investigate LEA’s supportive role in a hearing impaired child’s literacy development. In

  11. Modelo DIL-D ©: diagnosticando las acciones de responsabilidad social corporativa centradas en la integración laboral de personas con discapacidad

    Directory of Open Access Journals (Sweden)

    Marina Romeo Delgado

    2016-06-01

    Full Text Available El principal objetivo de la presente investigación es analizar y diagnosticar el grado de implantación y desarrollo de las acciones de responsabilidad social corporativa que facilitan la integración laboral de personas con discapacidad (RSC-D. Para ello hemos desarrollado un modelo clasificatorio (Modelo DIL-D © y un instrumento diagnóstico que dota de herramientas objetivas a los profesionales, en aras de fomentar la integración laboral de personas con discapacidad. El instrumento desarrollado se ha administrado a responsables RSC y/o de RRHH de 42 empresas. Los resultados nos muestran la confiabilidad del instrumento, así como el ajuste del Modelo. Dos tercios de las empresas obtienen niveles altos de desarrollo en todas las dimensiones, si bien un 34,5 % bajos. El modelo establece las pautas de intervención que la empresa ordinaria debe seguir en aras de promover la integración laboral, facilitando las herramientas de diagnóstico que promueven la creación de entornos integradores.

  12. Türkçenin Yabancı Dil Olarak Öğretimi Ders Kitaplarında Kültür Aktarımı Cultural Transmission Through Teaching Turkish As a Foreign Language Course Books

    Directory of Open Access Journals (Sweden)

    Fatih YILMAZ

    2012-09-01

    Full Text Available Communication in foreign language teaching is gaining more importance in today’s world. Language students find that learning the vocabulary and grammatical structures of a particular language is not enough to gain proficiency in the language. The close relationship between language and culture reveals the fact that it is impossible to master a language without learning its culture. Therefore, the course books used for teaching a foreign language must improve students’ communication skills by raising their cultural awareness. In this study, culture transfer through course books is analyzed and evaluated within the context of teaching Turkish to foreigners. The Yeni Hitit Yabancılar için Türkçe series, the course books used in the Turkish Studies Department at Jagiellonian University, are evaluated according to the following cultural transfer criteria: a subject area, (b type of text and (c visuality. The evaluation of the Yeni Hitit Yabancılar için Türkçe course book series from the perspective of cultural transmission has revealed that they contain elements that present Turkish culture to students with its different aspects and succeed in transmitting the Turkish culture to students for whom they are intended. Course books that promote communicative and intercultural competence should be chosen to teach Turkish as a foreign language at Polish universities. Günümüzde yabancı dil öğretiminde iletişimin önemi gittikçe artmaktadır. Dil öğrenenler için sadece o dilin kelime ve dilbilgisi yapılarını öğrenmek dil yeterliliği açısından yeterli değildir. Dil ve kültür arasındaki yakın ilişki, bir dile o dilin kültürünü öğrenmeden hâkim olunamayacağı gerçeğini ortaya koymaktadır. Bundan dolayı, yabancı dil öğretimi için kullanılan ders kitapları da kültürel farkındalığı artırarak iletişim becerilerini geliştirmesi beklenmektedir.

  13. Association of BoLA-DRB3.2 Alleles with BLV Infection Profiles (Persistent Lymphocytosis/Lymphosarcoma) and Lymphocyte Subsets in Iranian Holstein Cattle.

    Science.gov (United States)

    Nikbakht Brujeni, Gholamreza; Ghorbanpour, Reyhaneh; Esmailnejad, Atefeh

    2016-04-01

    Major histocompatibility complex (MHC) is the best-characterized genetic region associated with resistance and susceptibility to a wide range of diseases. In cattle, the most important example of the relationship between the MHC and infectious diseases has been established by the resistance to Bovine leukemia virus (BLV) infection. The association of the bovine MHC class II BoLA-DRB3.2 alleles with BLV infection profiles was examined. BoLA-DRB3.2 allelic diversity was determined in 190 Iranian Holstein cattle using direct sequencing method. Association of the DRB3.2 alleles with BLV infection profiles was found as the odds ratio. Effects of the alleles on lymphocyte subsets were also evaluated by multivariate regression analysis and GLM procedures. The studied cattle were categorized into three groups: BLV seronegative, BLV seropositive with persistent lymphocytosis (PL), and BLV seropositive with lymphosarcoma (LS). The PL profile was significantly associated with the BoLA-DRB3.2*0101, *1101 and *4201 alleles, although the *3202 allele mediating resistance to PL was observed. Significant association was found between the BoLA-DRB3.2*1802, *3202, and *0901 alleles and susceptibility to LS, while the *0101 and *1101 alleles were associated with resistance to LS. BoLA-DRB3.2 alleles also showed a significant correlation with CD4, CD8, CD21 cells and CD4/CD8 ratio. Allelic differences influence the immune response to BLV infection and developing the disease profile. These differences also have important consequences for tumor resistance.

  14. Immune Compromise in HIV-1/HTLV-1 Coinfection With Paradoxical Resolution of CD4 Lymphocytosis During Antiretroviral Therapy: A Case Report.

    Science.gov (United States)

    Rockwood, N; Cook, L; Kagdi, H; Basnayake, S; Bangham, C R M; Pozniak, A L; Taylor, G P

    2015-12-01

    Human immunodeficiency virus type-1 (HIV-1) and human T lymphotropic virus type-1 (HTLV-1) infections have complex effects on adaptive immunity, with specific tropism for, but contrasting effects on, CD4 T lymphocytes: depletion with HIV-1, proliferation with HTLV-1. Impaired T lymphocyte function occurs early in HIV-1 infection but opportunistic infections (OIs) rarely occur in the absence of CD4 lymphopenia. In the unusual case where a HIV-1 infected individual with a high CD4 count presents with recurrent OIs, a clinician is faced with the possibility of a second underlying comorbidity. We present a case of pseudo-adult T cell leukemia/lymphoma (ATLL) in HIV-1/HTLV-1 coinfection where the individual fulfilled Shimoyama criteria for chronic ATLL and had pulmonary Mycobacterium kansasii, despite a high CD4 lymphocyte count. However, there was no evidence of clonal T-cell proliferation by T-cell receptor gene rearrangement studies nor of monoclonal HTLV-1 integration by high-throughput sequencing. Mutually beneficial interplay between HIV-1 and HTLV-1, maintaining high level HIV-1 and HTLV-1 viremia and proliferation of poorly functional CD4 cells despite chronicity of infection is a postulated mechanism. Despite good microbiological response to antimycobacterial therapy, the patient remained systemically unwell with refractory anemia. Subsequent initiation of combined antiretroviral therapy led to paradoxical resolution of CD4 T lymphocytosis as well as HIV-1 viral suppression and decreased HTLV-1 proviral load. This is proposed to be the result of attenuation of immune activation post-HIV virological control. This case illustrates the importance of screening for HTLV-1 in HIV-1 patients with appropriate clinical presentation and epidemiological risk factors and explores mechanisms for the complex interactions on HIV-1/HTLV-1 adaptive immunity.

  15. Distinction between Asymptomatic Monoclonal B-cell Lymphocytosis with Cyclin D1 Overexpression and Mantle Cell Lymphoma: From Molecular Profiling to Flow Cytometry

    Science.gov (United States)

    Espinet, Blanca; Ferrer, Ana; Bellosillo, Beatriz; Nonell, Lara; Salar, Antonio; Fernández-Rodríguez, Concepción; Puigdecanet, Eulàlia; Gimeno, Javier; Garcia-Garcia, Mar; Carmen Vela, Maria; Luño, Elisa; Collado, Rosa; Navarro, José Tomás; de la Banda, Esmeralda; Abrisqueta, Pau; Arenillas, Leonor; Serrano, Cristina; Lloreta, Josep; Miñana, Belén; Cerutti, Andrea; Florensa, Lourdes; Orfao, Alberto; Sanz, Ferran; Solé, Francesc; Dominguez-Sola, David; Serrano, Sergio

    2015-01-01

    Purpose According to current diagnostic criteria, mantle cell lymphoma (MCL) encompasses the usual, aggressive variants and rare, nonnodal cases with monoclonal asymptomatic lymphocytosis, cyclin D1–positive (MALD1). We aimed to understand the biology behind this clinical heterogeneity and to identify markers for adequate identification of MALD1 cases. Experimental Design We compared 17 typical MCL cases with a homogeneous group of 13 untreated MALD1 cases (median follow-up, 71 months). We conducted gene expression profiling with functional analysis in five MCL and five MALD1. Results were validated in 12 MCL and 8 MALD1 additional cases by quantitative reverse transcription polymerase chain reaction (qRT-PCR) and in 24 MCL and 13 MALD1 cases by flow cytometry. Classification and regression trees strategy was used to generate an algorithm based on CD38 and CD200 expression by flow cytometry. Results We found 171 differentially expressed genes with enrichment of neoplastic behavior and cell proliferation signatures in MCL. Conversely, MALD1 was enriched in gene sets related to immune activation and inflammatory responses. CD38 and CD200 were differentially expressed between MCL and MALD1 and confirmed by flow cytometry (median CD38, 89% vs. 14%; median CD200, 0% vs. 24%, respectively). Assessment of both proteins allowed classifying 85% (11 of 13) of MALD1 cases whereas 15% remained unclassified. SOX11 expression by qRT-PCR was significantly different between MCL and MALD1 groups but did not improve the classification. Conclusion We show for the first time that MALD1, in contrast to MCL, is characterized by immune activation and driven by inflammatory cues. Assessment of CD38/CD200 by flow cytometry is useful to distinguish most cases of MALD1 from MCL in the clinical setting. MALD1 should be identified and segregated from the current MCL category to avoid overdiagnosis and unnecessary treatment. PMID:24352646

  16. Alphabet Issues in Teaching Turkish as a Foreign Language / Türkçenin Yabancı Dil Olarak Öğretiminde Alfabe Sorunu

    Directory of Open Access Journals (Sweden)

    Kübra ŞENGÜL

    2014-03-01

    Full Text Available This study aims to reveal the extent of alphabet problems experienced by foreigners as they learn Turkish and offer solutions. Even though the literature includes numerous studies that focus on alphabet issues in the teaching of Turkish to foreigners, the topic has never been studied independently. In order to do this, 45 foreign students attending Atatürk University Language Education Training and Research Center, Gaziantep University Turkish Education Training and Research Center and Fırat University Language Education Training and Research Center to learn Turkish at C1 level were asked to respond to an 8-item semi-structured interview and write a dictated text. The data showed that most students had difficulty vocalizing and writing the following letters/sound of the Turkish alphabet: a, e, ı, i, o, ö, u, ü, c, ç, ğ, l, ş, y. Usually, they were confused between back and front vowels. Bu çalışmanın amacı, yabancıların Türkçe öğrenirken yaşadıkları alfabe sorununun hangi boyutlarda olduğunu ortaya koymak, yaşanan sıkıntılara yönelik çözüm önerileri sunmaktır. Alan yazınına bakıldığında birçok çalışmada yabancılara Türkçe öğretiminde alfabe sorunundan bahsedildiği fakat konunun bağımsız olarak ele alınmadığı görülmüştür. Bu doğrultuda, Atatürk Üniversitesi Dil Eğitimi Uygulama ve Araştırma Merkezinde, Gaziantep Üniversitesi Türkçe Öğretimi Uygulama ve Araştırma Merkezinde ve Fırat Üniversitesi Dil Eğitim-Öğretim ve Araştırma Merkezinde Türkçe öğrenen C1 düzeyindeki 45 yabancı öğrenciye 8 maddelik yarı yapılandırılmış görüşme formu uygulanmış ve dikte yöntemiyle metin yazdırılmıştır. Elde edilen veriler doğrultusunda öğrencilerin çoğunluğunun Türk alfabesinde yer alan a, e, ı, i, o, ö, u, ü, c, ç, ğ, l, ş, y

  17. Yabancı Dil Olarak Türkçe Öğretiminde Konuşma Becerisi Kazandırmada Filmlerin Kullanımı / The Use of Films to Help Students Gain Speaking Abılıty in Teaching Turkish as a Foreign Language

    OpenAIRE

    İşcan, Adem; KARAGÖZ, Beytullah

    2016-01-01

    Dil öğretiminde işitsel ve görsel araçların kullanımı ve faydaları bilinen bir olgudur. Bu araçların başında da filmler gelmektedir. Yapılan araştırmalarda dil öğretiminde filmleri kullanmanın yabancı dil öğrencilerinin diğer dil becerilerinde olduğu gibi konuşma becerilerinin gelişmesinde de etkili olduğu görülmüştür. Yapılan alan yazın taramasında filmlerin yabancı dil öğretiminde kullanımı ve bu konuda yapılan bir çok çalışma varken ülkemizde çok az çalışma yapıldığı ve bunun da yeterli ol...

  18. Toplumsal ve Ferdi Düşüncenin Dile Yansımaları (Dil Düşünce İlişkisi The Reflections of Social and Individual Thoughts to Language (Relationship between Language and Thought

    Directory of Open Access Journals (Sweden)

    Nadir İLHAN

    2012-09-01

    örülmektedir. Milleti meydana getiren, millî kimliği ayakta tutan en önemli unsur olan dil sayesinde kişi en özel duygularını ifade edebildiği gibi yine dil sayesinde sosyalleşmekte, toplumun-milletin bir bireyi olmaktadır. Dil düşüncenin evi olduğuna göre insan diliyle düşünmekte, diliyle yaşamaktadır. Toplumsal değerlerin taşıyıcısı olan dile sahip çıkılmadığı zaman değerlere yabancılaşma ortaya çıkacak; değerlere yabancılaşma da millî kimliğe yabancılaşmayı millî kimliği kaybetmeyi beraberinde getirecektir. Kelimelerin kullanımı sırasında onlara yüklenen anlamlara, sanatlı anlatımlara bağlı olarak farklı şekillerde karşımıza çıkan dil,. Günlük işlerimizde kullandığımız konuşma dili ile ilmî çalışmalarda kullanılan terimlerle yüklü bilimsel dil veya kişilerin duygularını, heyecanlarını anlatırken kullandıkları edebî dil şeklinde birbirinden farklı şekillerde nitelendirilebilmektedir. Dil sistemi içerisinde kelimeler, kullanılışı, onlara yüklenen anlamlar ve ifade şekilleri açısından farklılıklar göstermektedir. Dil düşüncenin evi olduğuna göre insan diliyle düşünmekte, diliyle yaşamaktadır. İnsan düşündüğünü ve düşüncelerini ifade edebildiği müddetçe insandır. Toplumsal alandaki herşey dilde de anlatım bulduğu için onu sürekli değişken kılmaktadır. Kısaca “Evrende değişmeyen tek şey herşeyin değiştiğidir” kuralı toplum ve dil ilişkisinde de değişmez bir gerçektir. İsanlık var olduğu sürece geilşim değişim içeisnde olacak bu deiğişimler de dile yansıyacaktır.

  19. Monoclonal B-cell lymphocytosis in a hospital-based UK population and a rural Ugandan population: a cross-sectional study.

    Science.gov (United States)

    Rawstron, Andy C; Ssemaganda, Aloysius; de Tute, Ruth; Doughty, Chi; Newton, Darren; Vardi, Anna; Evans, Paul A S; Stamatopoulos, Kostas; Owen, Roger G; Lightfoot, Tracy; Wakeham, Katie; Karabarinde, Alex; Asiki, Gershim; Newton, Robert

    2017-07-01

    Reported incidence of B-cell malignancies shows substantial geographical variation, being more common in the Americas and Europe than in Africa. This variation might reflect differences in diagnostic capability, inherited susceptibility, and infectious exposures. Monoclonal B-cell lymphocytosis (MBL) is a precursor lesion that can be screened for in apparently healthy people, allowing comparison of prevalence across different populations independently of health-care provision. We aimed to compare the prevalence and phenotypic characteristics of MBL in age-and-sex-matched populations from rural Uganda and the UK. In this cross-sectional study, we recruited volunteers aged at least 45 years who were seronegative for HIV-1 from the established Ugandan General Population Cohort and obtained their whole-blood samples. We also obtained blood samples from anonymised waste material of age-and-sex-matched individuals (aged >45 years, with a normal blood count and no history of cancer) in the UK. We used flow cytometry to determine the presence of MBL, defined according to standard diagnostic criteria, in the samples and compared differences in the proportion of cases with chronic lymphocytic leukaemia (CLL)-phenotype MBL and CD5-negative MBL, as well as differences in absolute monoclonal B-cell count between the two cohorts. Between Jan 15 and Dec 18, 2012, we obtained samples from 302 Ugandan volunteers and 302 UK individuals who were matched by age and sex to the Ugandan population. Overall MBL prevalence was higher in the Ugandan participants (42 [14%] individuals) than in the UK cohort (25 [8%]; p=0·038). CLL-phenotype MBL was detected in three (1%) Ugandan participants and 21 (7%) UK participants (p=0·00021); all three Ugandan participants had absolute monoclonal B-cell count below one cell per μL, whereas the 21 UK participants had a median absolute number of circulating neoplastic cells of 4·6 (IQR 2-12) cells per μL. The prevalence of CD5-negative MBL was

  20. Okul müdürlerine yönelik motivasyonel dil ölçeği: Türk kültürüne uyarlama, dil geçerliği ve faktör yapısının incelenmesi / Motivational language scale for school principals: Adaptation for Turkish culture, language validity, and examination of factor structure

    Directory of Open Access Journals (Sweden)

    Hamit Özen

    2013-04-01

    Full Text Available ÖZETAraştırmanın amacı, Motivasyonel Dil Ölçeği’nin Türk kültürüne uyarlanmasıdır. Araştırmanın çalışma grubunu 219 ilkokul ve ortaokul öğretmeni oluşturmaktadır. Ölçeğin uyarlaması İngilizce dilinden Türkçe’ye çeviri ile başlamış sonra geri çeviri ile İngilizceye dönüştürülmüştür. Çeviri geçerliği amacıyla İngilizce uzmanlarına test-tekrar test uygulaması yapılmış, her iki testin maddeleri arasında korelâsyon yoluyla Pearson Momentler Çarpımı Katsayısı belirlenmiştir. Yapı geçerliği için Açımlayıcı Faktör Analizi (AFA yapılmıştır. AFA sonucunda ölçeğin üç boyutta oluştuğu görülmüş ve yönlendirici dil, cesaret verici dil ve aitlik yaratıcı dil olarak adlandırılmıştır. Ölçeğin güvenirlik düzeyi ve maddelerin ayrışıklığı Cronbach Alfa Katsayısı, Düzeltilmiş Madde-Toplam Korelâsyon ve % 27’lik alt-üst grup farkına ilişkin t- değerleri hesaplanarak sağlanmıştır. Ayrıca ölçeğin alt faktörlerinin ortalama ve standart sapma değerleri ile alt ölçekleri arasındaki ilişkinin tespitinde Pearson Momentler Çarpımı korelâsyon analizi uygulanmıştır. Bu işlemlerden sonra ölçeğin geçerli ve güvenilir olduğu görülmüştür.

  1. EAT TIL AND PROTECT DIL

    Directory of Open Access Journals (Sweden)

    Dhamija Isha

    2012-11-01

    Full Text Available Sesame seeds have been grown in tropical regions throughout the world since pre-historic times. Sesame seeds look like tiny and simple pieces of nature. Sesame seeds seem to have originated in the Indian subcontinent. These nutty flavored and crunchy seeds of sesame have become a prominent cooking ingredient in different parts of the world. Sesamin and Sesamolin are two unique phytoconstituents present in these seeds, which help in correcting hypertension and hyperlipidemia. They serve as a good source of manganese, calcium, copper and vitamin B. Ayurveda recommends seed oil for body massage. The Sesame oil shows mildly laxative, emollient, hypolipidemic, anticancer, and hepato-protective actions. Sesame oil is incredibly popular for its nutritional antioxidant and medicinal properties.

  2. The analysis of perception levels of elemantary school teachers with regard to organizational commitment: Şırnak / İdil case

    Directory of Open Access Journals (Sweden)

    Şenay Nartgün

    2010-02-01

    Full Text Available The study aims to investigate the organizational commitment levels of the teachers that work in primary schools regarding different variables. In the context of this aim, the answers to the question below were investigated; do the ideas of primary school teachers about organizational commitment show a meaningful difference according to the variables below: according to gender, according to marital status, according to years spent at the job, according to age, according to their subject matter, according to employment status?The universe of the study was made up of teachers in the 6 central primary schools in the Şırnak/İdil district and primary schools of its 66 neighboring villages in 2008-2009 educational year.The results in the light of the findings of the study are as follows: There were no meaningful differences between gender and affective (willing, continuance (due to necessity and normative (due to obligation commitment teachers expressed. The perceptions of teachers related to affective, normative and continuance commitment had no relation to their marital status. Although years of experiences of teaching indicated a meaningful difference in the affective commitment felt by the teachers, it did not show any meaningful differences on continuance and normative commitment dimensions.EXTENDED ABSTRACTIntroduction:In the school organization, the teachers who feel committed to their institutions strongly believe in the mission and vision of their school and willingly follow the orders and expectations. They also exert more effort than the minimum requirements in order to implement the mission of the school and show determination in staying among the staff. Organizational commitment is the most important element that holds the school organization intact and that can further the institution in its efforts to establish an effective organization.When teachers feel an earnest and ethical commitment to being a member of their schools and see

  3. Grammatical gender in German language and the acquisition of this systemAlmancada dilbilgisel cinsiyet sitemi ve bu sistemin yabancı dil olarak edinimi

    Directory of Open Access Journals (Sweden)

    Mehmet Halit Atlı

    2015-09-01

    Full Text Available It is said that the learning/acquisition of German language as L2 is difficult. The possible reason for this opinion is German grammatical gender system, because it has a very unorderly and complex nature system. By each grammatical rules of this language has got a series of exception rules. We are witnessed that, both linguists and educators, who are expert in languages, as well as the people, who are not experts in the language, are often commented the multitude of exceptions in grammatical rules and the difficulty of grammatical gender system of this language. Some modern linguists say that, this language has no rules to determine the grammatical gender system and goes further and say, each substantive should be memorized with its definite article. However, it is not correct to say that the language occurred from irregular structures, above all there is no language in the world, particularly the natural language occurs from a number of irregular structures. The modern linguistics says the building of words and sentence is not arbitrary, they occur in a certain harmony. However, many of the studies of descriptive linguistics analysis showed that, the leaner of German language acquired the grammatical gender system; during they handled the words in a process of morphological, semantic and phonological according some inductive rules. But in which extent the acquirers use the rules of this language as L2 and how they use exactly the rules is unknown. In this study, we have showed the concept of grammatical gender, the use of its in German language, its specifications, functions and we have made a detailed examination of the various studies conducted on this issue. Furthermore, we have got soughed the answer of acquisition process of grammatical gender system and the formulated grammatical gender determination process by L2 learner.   Özet Almancanın yabancı dil (L2 olarak öğrenilmesi/edinilmesi zor bir dil olduğu söylenilir. Bu d

  4. CM-DIL和DAPI标记的骨髓间充质干细胞%Comparison of CM-DIL and DAPI labeled bone marrow-derived mesenchymal stem cells

    Institute of Scientific and Technical Information of China (English)

    商青青; 李凯; 周建业; 胡盛寿

    2013-01-01

    背景:在有关“细胞移植”的实验研究中,细胞标记技术被广泛应用。CM-DIL与DAPI是细胞标记实验中常用的荧光染料,目前两者的对比研究报道较少。  目的:从体外实验与体内实验两方面,探讨两种荧光染料CM-DIL与DAPI在标记大鼠骨髓间充质干细胞方面的差异。  方法:用贴壁培养法获取、培养、扩增大鼠骨髓间充质干细胞,分别用CM-DIL与DAPI进行标记,锥虫蓝计数检测骨髓间充质干细胞的活力;MTS法检测骨髓间充质干细胞的增殖能力并绘制增殖曲线;倒置相差荧光显微镜下动态观察标记后1,2,3代骨髓间充质干细胞的荧光衰减情况。结扎SD大鼠冠状动脉前降支致心肌梗死。1周后于心肌梗死边缘处注射CM-DIL与DAPI标记的细胞,细胞移植后3 d取材观察骨髓间充质干细胞的分布情况。  结果与结论:体外实验中,CM-DIL与DAPI标记的骨髓间充质干细胞两者的早期增殖能力均低于对照组;两种染料标记后的第1代细胞的荧光阳性率均为100%,但DAPI标记后的第3代细胞的荧光强度明显减弱。体内实验中,CM-DIL组与DAPI组心肌组织冰冻与石蜡切片均检测到集中分布的荧光;CM-DIL组冰冻切片红色荧光比DAPI组的蓝色荧光边界清晰并且背景低;CM-DIL组还可以通过含细胞核染色的封片剂封片排除荧光假阳性。可见,CM-DIL染料比DAPI更适合对骨髓间充质干细胞进行体内示踪。%BACKGROUND:cellmarker technology has been widely applied in many studies concerning celltransplantation. Chlormethylbenzamido-1,1-dioctadecyl-3,3,3’3’-tetramethylin-docarbocyamine (CM-DIL) and 4’,6-diamidino-2-phenylindole (DAPI) are commonly used for labeling cells. To our knowledge, there are few reports on comparing the two fluorescent dyes. OBJECTIVE:To compare the effects of CM-DIL and DAPI on labeling bone marrow mesenchymal stem cells in

  5. Derin Yapı Yüzey Yapı İlişkisi Bağlamında Temel Dil Becerileri Üzerine Bir Analiz Çalışması

    Directory of Open Access Journals (Sweden)

    Bilginer ONAN

    2015-07-01

    Full Text Available Bu çalışmada, derin yapı yüzey yapı ilişkileri bağlamında, ana dili eğitiminde temel dil becerileri olarak kabul edilen dinleme, konuşma, okuma ve yazma kavramları analiz edilmiştir. Birinci bölümde, ilk kez Port Royal Gramer Okulu tarafından ortaya konan ve 1960’larda Noam Chomsky tarafından Üretimci Dönüşümsel Dil Bilgisi kuramıyla tekrar gündeme getirilen derin yapı ve yüzey yapı kavramları hakkında bilgi verilmiştir. Çalışmanın ikinci bölümünde ise derin yapı ve yüzey yapı ilişkileri çerçevesinde dinleme, konuşma, okuma ve yazma becerileri analiz edilmiştir. Çalışmanın amacı, dilin iki temel boyutu olan anlam ve biçim ilişkileri bağlamında, temel dil becerilerinin eğitimi sürecinde belirleyici olan unsurları tespit ederek, sürecin programlanmasına yönelik öneriler geliştirmektir. Çalışma çerçevesinde yapılan analizlerde boğumlama, bürün olguları, beden dili, üretici kelime hazinesi, alıcı kelime hazinesi, akıcılık, metin türü, yazım ve noktalama, bağdaşıklık, tutarlılık, ön bilgi, kelime tanıma, kelime ayırt etme, edinilmiş bilgi, önvarsayım, sezdirim kavramlarının derin yapı yüzey yapı ilişkileri bağlamında temel dil becerilerinin geliştirilmesinde süreci etkileyen unsurlar olduğu tespit edilmiştir. Bu kavramlar arasında boğumlama, bürün olgusu, beden dili, akıcılık, bağdaşıklık, metin türü, kelime tanıma, kelime ayırt etme, yazım ve noktalama, doğrudan yüzey yapıyla ilgilidir. Üretici kelime hazinesi, akıcılık, alıcı kelime hazinesi, tutarlılık, ön bilgi, edinilmiş bilgi, önvarsayım ve sezdirim kavramları ise derin yapıyı ilgilendirmektedir. Akıcılık kavramının bütün dil becerileriyle ilgili olduğu belirlenmiştir.

  6. Hydralazine Induced Lupus Syndrome Presenting with Recurrent Pericardial Effusion and a Negative Antinuclear Antibody

    Science.gov (United States)

    Iyer, Praneet; Zijoo, Ritika

    2017-01-01

    Drug induced lupus erythematosus (DIL or DILE) is an autoimmune disorder caused by chronic use of certain drugs. We report a unique case of hydralazine induced lupus syndrome (HILS) with a negative antinuclear antibody in a female patient who was on hydralazine for a period of 1.5–2 years and developed recurrent pericardial effusion as a result of it. Initially her condition was managed with a pericardial window. The recurrence of a massive pericardial effusion necessitated a right hemipericardiectomy. After hydralazine was stopped, she never had any further episodes of pericardial effusion or tamponade. PMID:28194293

  7. Hydralazine Induced Lupus Syndrome Presenting with Recurrent Pericardial Effusion and a Negative Antinuclear Antibody

    Directory of Open Access Journals (Sweden)

    Praneet Iyer

    2017-01-01

    Full Text Available Drug induced lupus erythematosus (DIL or DILE is an autoimmune disorder caused by chronic use of certain drugs. We report a unique case of hydralazine induced lupus syndrome (HILS with a negative antinuclear antibody in a female patient who was on hydralazine for a period of 1.5–2 years and developed recurrent pericardial effusion as a result of it. Initially her condition was managed with a pericardial window. The recurrence of a massive pericardial effusion necessitated a right hemipericardiectomy. After hydralazine was stopped, she never had any further episodes of pericardial effusion or tamponade.

  8. CM-Dil标记大鼠骨髓间充质干细胞的生物学特性探讨%Effect of CM-Dil labeling on biological characteristics of rat bone marrow mesenchymal stem cells

    Institute of Scientific and Technical Information of China (English)

    张雅妮; 于美娟; 冯善伟; 王淑辉; 李美山; 熊符; 张成

    2016-01-01

    背景:目前已有部分实验采用CM-Dil标记间充质干细胞开展体内外实验,取得良好成果。  目的:观察CM-Dil标记大鼠骨髓间充质干细胞的生物学特性及其定向迁移能力。  方法:分离培养大鼠骨髓间充质干细胞,通过流式细胞技术分析其特异性细胞表面标记抗原(CD29, CD44,CD11b,CD45)的表达。用CM-Dil标记大鼠骨髓间充质干细胞,继续培养细胞,观察细胞的形态及增殖情况,及传代后荧光的强度与持久性。采用Transwell小室进行标记后大鼠骨髓间充质干细胞向mdx鼠腓肠肌匀浆液的迁移实验。  结果与结论:所培养细胞均一性好,均表达CD29和CD44,不表达CD11b和CD45,符合骨髓间充质干细胞的特点。经CM-Dil标记后对大鼠骨髓间充质干细胞的形态、增殖无明显影响,传代后仍可保持荧光强度,但随传代有所减弱。标记前后大鼠骨髓间充质干细胞的迁移能力无显著性差异(P>0.05)。结果说明,CM-Dil标记过程安全、简单、高效,对大鼠骨髓间充质干细胞的形态、增殖及迁移能力无明显影响,体外细胞传代后仍可保持荧光,是大鼠骨髓间充质干细胞标记与示踪的理想试剂。%BACKGROUND:Existing evidence has shown that CM-Dil-labeled mesenchymal stem cel s have delivered better results in experiments in vivo and in vitro. OBJECTIVE:To investigate the effect of in vitro CM-Dil labeling on biological characteristics and directed migration of rat bone marrow mesenchymal stem cel s. METHODS:Mesenchymal stem cel s were isolated and cultured from the bone marrow of Sprague-Dawley rats. The specific surface antigens, CD29, CD44, CD11b, CD45, were detected by flow cytometry. The rat bone marrow mesenchymal stem cel s were labeled with CM-Dil, and then were cultured and passed continual y. Thereafter the morphology and proliferation ability of labeled cel s were assessed. The strength and

  9. Öğretmen Adaylarının Yabancı Dil Kavramına İlişkin Metaforik Algıları Metaphorical Perceptions Of Prospective Teachers Regarding Foreign Language

    Directory of Open Access Journals (Sweden)

    Mehmet Nuri GÖMLEKSİZ

    2013-09-01

    Full Text Available Teaching a foreign language has been included in curriculum at every education stage and it has been given priority for the individuals to learn. Attitudes and perceptions play an important role in learning a foreign language as well as having an effective study process. While positive attitudes and perceptions affect foreign language learning process positively, negative ones affect the process negatively. The aim of this study is to explore metaphorical images of prospective teachers toward the concept of foreign language. The study was conducted on prospective teachers enrolled at Faculty of Education in Fırat University during the Spring term of 2012-2013 academic year. Volunteer students were included in the study. Of the 542 prospective teachers, 289 were female and 253 were male. Data of the study were collected through the use of the prompt “Foreign language is like ………….. because ………….”.The metaphor sheets were handed the participants in their classrooms. The prospective teachers were asked to write the first metaphor that they came up with. Upon completing the metaphor sheet, all the participants were asked to write the reasons of the metaphors they developed regarding foreign language. The participants were given sufficient time to write their metaphors and their reasons in their classrooms. To do that, a single session of any class hour was used and the sheets were collected in the same way. Content analysis was used to analyze the data. Eight categories were identified based on the 54 metaphorical images toward the concept of foreign language. The categories are as follows: Future, necessity, power, joy, travel, despair, difficulty and colonialism. Based on the study results, some useful recommendations are offered. Yabancı bir dil öğretme her düzeyde eğitim kurumunun programında yer alan ve bireylerin öğrenmesinde öncelik verilen bir alan olmuştur. Yabancı dil öğrenmede etkili çalışma s

  10. HaNDL Syndrome Presenting During Pregnancy: A Case Report and Review of the Literature

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    Yüksel Kaplan

    2014-09-01

    Full Text Available Headache associated with neurological deficits and cerebrospinal fluid lymphocytosis (HaNDL is a self-limited syndrome characterized by sudden-onset headache with a temporary neurological deficit and cerebrospinal fluid (CSF lymphocytosis. We aimed to disscus a case of HaNDL syndrome presenting during pregnancy with relevant literature. A 20-year-old female presented with a 5-day history of severe, bilateral throbbing headache accompanied by nausea, vomiting, and phonophobia. Approximately 2 days after the pain developed, she became acutely confused for less than 90 minutes. 2 days after this episode, she experienced again confusional state and left hemiparesis. There were no symptoms consistent with meningoencephalitis. She was pregnant and at 11 weeks gestation. A neurologic examination showed confusional state, bilateral papilledema, and mild left hemiparesis. The neuroradiological examination was normal. The cerebrospinal fluid revealed lymphocytic pleocytosis, mildly elevated protein, and increased opening pressure. She recovered completely after 8 days. The precise etiology of HaNDL is unknown, although an inflammatory or infectious origin and autoimmune factors have been proposed. Moreover, the risk factors and medical conditions associated with HaNDL are unknown. It is obviously difficult to determine whether the pregnancy was coincidental or associated in this case. We believe that comprehensive studies are needed to clarify the risk factors and medical conditions associated with HaNDL.

  11. The analysis of perception levels of elemantary school teachers with regard to organizational commitment: Şırnak / İdil case

    Directory of Open Access Journals (Sweden)

    Şenay Nartgün

    2010-02-01

    Full Text Available The study aims to investigate the organizational commitment levels of the teachers that work in primary schools regarding different variables. In the context of this aim, the answers to the question below were investigated; do the ideas of primary school teachers about organizational commitment show a meaningful difference according to the variables below: according to gender, according to marital status, according to years spent at the job, according to age, according to their subject matter, according to employment status? The universe of the study was made up of teachers in the 6 central primary schools in the Şırnak/İdil district and primary schools of its 66 neighboring villages in 2008-2009 educational year.The results in the light of the findings of the study are as follows: There were no meaningful differences between gender and affective (willing, continuance (due to necessity and normative (due to obligation commitment teachers expressed.  The perceptions of teachers related to affective, normative and continuance commitment had no relation to their marital status. Although years of experiences of teaching indicated a meaningful difference in the affective commitment felt by the teachers, it did not show any meaningful differences on continuance and normative commitment dimensions.EXTENDED ABSTRACTIntroduction: In the school organization, the teachers who feel committed to their institutions strongly believe in the mission and vision of their school and willingly follow the orders and expectations. They also exert more effort than the minimum requirements in order to implement the mission of the school and show determination in staying among the staff. Organizational commitment is the most important element that holds the school organization intact and that can further the institution in its efforts to establish an effective organization. When teachers feel an earnest and ethical commitment to being a member of their schools and

  12. Trol ve uzatma ağları ile İzmir körfezinden yakalanan dil (Solea solea balığının yaşama yüzdesi; kültür şartlarına adaptasyonu ve beslenme davranışı.

    Directory of Open Access Journals (Sweden)

    Doç.Dr. Fatih Başaran

    2008-01-01

    Full Text Available Trol ve uzatma ağları ile İzmir körfezinden yakalanan dil (Solea solea balığının yaşama yüzdesi; kültür şartlarına adaptasyonu ve beslenme davranışı. Bu araştırmada, doğal ortamdan yakalanan dil balığının (Solea solea, kültür şartlarına adaptasyonu ve beslenme davranışı incelenmiştir. Dil balıkları, 2007 Mart-Nisan döneminde, İzmir Körfezi’nden trol ve uzatma ağlarıyla yakalanmıştır. 270 adet dil balığının ön adaptasyonu sırasında, ilk beş gün boyunca, karanlık ortamda antibiyotik (100 ppm fruzolidon ilavesi, 60 dak/gün uygulaması gerçekleştirilmiştir. Kültür şartlarında ilk besleme için, kalamar (Loligo vulgaris, boru kurdu (Diopatra neopolitana, kara midye (Mytilus galloprovincialis, sülünes (Solen marginatus, istiridye (Ostrea edulis, japon şapkası (Patella spp., deniz salyangozu (Monodonta turbinata ve taze sardalya (Sardina pilchardus kullanılmıştır. Dil balıkları 0-2 gün içinde beslenmeye başlamıştır ve boru kurdu, en çok tercih ettikleri tür olmuştur. Bir aylık adaptasyon dönemi sonunda, uzatma ağlarıyla yakalanan dil balıklarının yaşama oranının (%58, trol ile yakalananların yaşama oranından (%29 önemli düzeyde yüksek bulunmuştur (p

  13. The place of affect and emotion in the theories of first language acquisitionİlk dil edinim kuramlarında duygulanım ve duygu olgularının yeri

    Directory of Open Access Journals (Sweden)

    Yunus Pınar

    2015-08-01

    Full Text Available In the basic theories of first-language acquisition that attempt to explain how infants learn their primary languages children are treated some- times as a ‘black box’, at times as a ‘universal grammarian”, and at times almost as a ‘processor’, and they are seen as objects in a laboratory where emotional factors are ignored.  This article is the outcome of a thorough survey of literature and primarily it aims to present the most widely accepted language acquisition theories. In addition, we shall try to describe the restrained position of first language acquisition theories towards the impact of affects and emotional factors on the acquisition process.  Apart from that, our study aims to find out whether or not the classical and popular theories of language acquisition have empirical or theoretical answers as to the effect variables like joy, happiness, worry, anxiety, introversion, aggression or loneliness have on linguistic development.  In the centre of the research are the most widely accepted first-language acquisition theories. In this article, behaviorist (Burrhus F. Skinner, nativist (Noam Chomsky, interactionist (Jerome Brunner, usage-based (Michael Tomasello and linear (William O’Grady theories of first-language acquisition will be generally examined and the connection of affect and emotion with linguistic development will be discussed in detail as to the place it occupies in the literature.   Özet Çocukların anadillerini nasıl öğrendiklerini açıklamaya çalışan temel ilk dil edinim kuramlarında çocuklar kimi zaman: “kara kutu”, kimi zaman: “evrensel bir gramerci”, bazen de adeta bir: “işlemci” olarak ele alınmış ve duygusal faktörlerin sürekli göz ardı edildiği bir laboratuvar objesi olarak görülmüşlerdir.  Elinizdeki bu makale, derinlemesine bir alan yazın taramasının ürünüdür ve herşeyden önce en çok kabul görmüş/gören dil edinim kuramlarını ana hatlar

  14. Scheie syndrome

    Science.gov (United States)

    ... Hurler syndrome) MPS II (Hunter syndrome) MPS IV (Morquio syndrome) MPS III (Sanfilippo syndrome) Causes Scheie syndrome ... Autosomal recessive Cloudy cornea Hearing loss Hurler syndrome Morquio syndrome Review Date 4/20/2015 Updated by: ...

  15. Posterior Cord Syndrome and Trace Elements Deficiency as an Uncommon Presentation of Common Variable Immunodeficiency

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    Yuri Silva Macedo

    2017-01-01

    Full Text Available Diarrhea is one of the most common symptoms in common variable immunodeficiency, but neurologic manifestations are rare. We presented a 50-year-old woman with recurrent diarrhea and severe weight loss that developed a posterior cord syndrome. Endoscopy found a duodenal villous blunting, intraepithelial lymphocytosis, and lack of plasma cells and magnetic resonance imaging of the spine was normal. Laboratory assays confirmed common variable immunodeficiency syndrome and showed low levels of trace elements (copper and zinc. Treatment was initiated with parenteral replacement of trace elements and intravenous human immunoglobulin and the patient improved clinically. In conclusion, physicians must be aware that gastrointestinal and neurologic disorders may be related to each other and remember to request trace elements laboratory assessment.

  16. Síndrome HaNDL / HaNDL Syndrome / Síndrome HaNDL

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    Camilo Ernesto Barros-Gutiérrez, MD., Esp.

    2015-03-01

    Full Text Available Introducción: El Síndrome HaNDL (Headache and neurologic deficits with cerebroespinal fluid lymphocytosis por sus siglas en inglés, es una patología que cursa con cefalea, focalización neurológica y linfocitosis en el líquido cefalorraquídeo. Objetivo: este artículo busca presentar un caso de Síndrome de HaNDL, puesto que esta condición nosológica implica un reto diagnóstico. Resultados y conclusiones: Se presenta el caso de un paciente con diagnóstico de síndrome de HaNDL los hallazgos al examen físico y del líquido cefalorraquídeo. [Barros-Gutiérrez CE, Silva-Monsalve E, Gualtero-Trujillo S. Síndrome HaNDL. MedUNAB 2015; 17(3: xx-xx]. Introduction: The syndrome of transient Headache and Neurological Deficits with cerebrospinal fluid Lymphocytosis, is a pathology that presents cephalalgia, neurological focalization and lymphocytes in the cerebrospinal fluid. Objective: This article presents a HaNDL Syndrome case, since this nosological condition implies a diagnostic challenge. Results and conclusions: A case of a patient with HaNDL syndrome diagnosis, physical examination findings and cerebrospinal fluid are presented. [Barros-Gutiérrez CE, Silva-Monsalve E, Gualtero-Trujillo S. HaNDL Syndrome. MedUNAB 2015; 17(3: xx-xx]. Introdução: A síndrome de HaNDL (Headache and neurologic déficits with cerebrospinal fluid lymphocytosis por sua sigla em inglês é uma doença que causa dor de cabeça, foco neurológico e linfocitose no líquido cefalorraquidiano. Objetivo: Este artigo tem como objetivo apresentar um caso de Síndrome de HaNDL, uma vez que esta condição nosológica envolve um desafio diagnóstico. Resultados e conclusões: Apresenta-se o caso de um paciente diagnosticado com a síndrome de HaNDL, o encontrado no exame físico e o líquido cefalorraquidiano. [Barros-Gutiérrez CE, Silva-Monsalve E, Gualtero-Trujillo S. Síndrome HaNDL. MedUNAB 2015; 17(3: xx-xx].

  17. Programación de un sistema de adquisición de datos utilizando el sistema embebido DNP/1110; Programming of a data acquisition system using the embedded system dil/netpc DNP/1110

    Directory of Open Access Journals (Sweden)

    Josnier Ramos Guardarrama

    2011-06-01

    Full Text Available En el trabajo se presenta una alternativa económica de un sistema de adquisición de datos (SAD basado en el kit dedesarrollo DIL/NetPC DNP/1110, el cual esta formado por un microcontrolador de INTEL SA-1110 StrongARM quetrabaja a 206 MHz y que tiene incorporado un controlador de Ethernet que permite desarrollar aplicaciones con el usode la red. El sistema embebido dispone de un sistema operativo Linux, kernel versión 2.4.18. Como parte del diseñose incorporan de forma compacta los elementos necesarios para que el SAD sea capaz de muestrear ocho señalescapturadas simultáneamente. De particular interés resulta la programación, presentándose dos variantes de solución:cuando se ejecuta la aplicación con un software que corre en el área de usuario y cuando el control se logra con unmódulo del sistema operativo específico para el trabajo del SAD. El sistema está soportado por la integración desoftware libre y propietario.  This work focuses on an economic alternative for developing a data acquisition system (DAS which is made up forThe DIL/NetPC DNP/1110, which provides a very compact Intel 206 MHz SA-1110 StrongARM-based low powerembedded controller with TCP/IP stack and web server for high-speed embedded networking applications. Theembedded system has an operating system Linux, kernel version 2.4.18. The built data acquisition system has thenecessary elements to take charge of governing the sampling process of eight signals. Of particular interest it is theprogramming, being presented two solution variants: when the application is executed with software that it runs inuser's area and when the control is achieved with a specific build module of the operating system for the work of theDAS.. The system is supported by the integration of free software and property software.

  18. Programación de un sistema de adquisición de datos utilizando el sistema embebido DNP/1110;Programming of a data acquisition system using the embedded system dil/netpc DNP/1110

    Directory of Open Access Journals (Sweden)

    Josnier Ramos - Guardarrama,et al.

    2011-06-01

    Full Text Available En el trabajo se presenta una alternativa económica de un sistema de adquisición de datos (SAD basado en el kit de desarrollo DIL/NetPC DNP/1110, el cual esta formado por un microcontrolador de INTEL SA-1110 StrongARM que trabaja a 206 MHz y que tiene incorporado un controlador de Ethernet que permite desarrollar aplicaciones con el uso de la red. El sistema embebido dispone de un sistema operativo Linux, kernel versión 2.4.18. Como parte del diseño se incorporan de forma compacta los elementos necesarios para que el SAD sea capaz de muestrear ocho señales capturadas simultáneamente. De particular interés resulta la programación, presentándose dos variantes de solución: cuando se ejecuta la aplicación con un software que corre en el área de usuario y cuando el control se logra con un módulo del sistema operativo específico para el trabajo del SAD. El sistema está soportado por la integración de software libre y propietario.This work focuses on an economic alternative for developing a data acquisition system (DAS which is made up for The DIL/NetPC DNP/1110, which provides a very compact Intel 206 MHz SA-1110 StrongARM-based low power embedded controller with TCP/IP stack and web server for high-speed embedded networking applications. The embedded system has an operating system Linux, kernel version 2.4.18. The built data acquisition system has the necessary elements to take charge of governing the sampling process of eight signals. Of particular interest it is the programming, being presented two solution variants: when the application is executed with software that it runs in user's area and when the control is achieved with a specific build module of the operating system for the work of the DAS.. The system is supported by the integration of free software and property software.

  19. Detection of non-CLL-like monoclonal B cell lymphocytosis increases dramatically in the very elderly, while detection of CLL-like populations varies by race: findings in a multiethnic population-based cohort of elderly women.

    Science.gov (United States)

    Edlefsen, Kerstin L; Cherian, Sindhu; De Roos, Anneclaire J; Getaneh, Asqual; Lessin, Lawrence; Li, Wenjun; Wood, Brent L; Reiner, Alexander P

    2016-10-01

    Monoclonal B cell lymphocytosis (MBL) is both a marker of immune senescence and a potential precursor of B cell malignancy. Most MBL populations have a chronic lymphocytic leukemia-like (CLL-like) immunophenotype, but those that are CD5-negative (non-CLL-like) are also recognized and may represent a distinct diagnostic entity. To date, MBL studies have taken place in relatively homogenous populations, although risk of CLL varies across racial groups and geographic regions. We report flow cytometry data from 597 ethnically diverse 64-94-year-old women from across the USA who are participants in the Women's Health Initiative (WHI) Long-Life Study (LLS). Overall, MBL was detected in 26 % of the participants and included 20.9 % with a CLL-like immunophenotype, 5 % with a non-CLL-like immunophenotype, and 1.3 % with both. White and Hispanic women were more than twice as likely to have a CLL-like MBL population detected than African American women, corrected for age (P = 0.003). By contrast, detection of non-CLL-like MBL did not vary significantly by race, but did increase markedly with advancing age, being present in 12.7 % of those aged 85 and older. We provide new evidence that rates of detection of CLL-like MBL are lower in African Americans, and further suggest that non-CLL-like clonal expansions should be regarded as distinct from CLL-like MBL.

  20. An adolescent with pseudomigraine, transient headache, neurological deficits, and lymphocytic pleocytosis (HaNDL Syndrome): case report and review of the literature.

    Science.gov (United States)

    Filina, Tatiana; Feja, Kristina N; Tolan, Robert W

    2013-06-01

    We report a 16-year-old adolescent with 2 episodes of focal neurological deficits, pseudomigrainous headache, and lymphocytic pleocytosis due to the syndrome of transient headache and neurological deficits with cerebrospinal fluid (CSF) lymphocytosis (HaNDL), also known as pseudomigraine with CSF pleocytosis. Review of the literature identifies 13 additional cases of HaNDL in the pediatric population. These cases are reviewed and evidence for possible etiopathogenesis is discussed. This syndrome may mimic much more common conditions such as complicated or hemiplegic migraine, aseptic meningitis, meningoencephalitis, or stroke. However, HaNDL differs from complicated or hemiplegic migraine and stroke since CSF pleocytosis is uniformly present. There are many infectious conditions that can present with neurological deficits, headache, and CSF pleocytosis, but the transient nature of the deficits and lack of a consistently identifiable infectious etiology despite extensive evaluations typify HaNDL. This clinical syndrome is underrecognized and underreported. HaNDL remains a diagnosis of exclusion.

  1. Papel da imunofenotipagem por citometria de fluxo no diagnóstico diferencial das pancitopenias e das linfocitoses The role of flow cytometer-based immunophenotyping in the differential diagnosis of pancytopenia and of lymphocytosis

    Directory of Open Access Journals (Sweden)

    Eduardo M. Rego

    2009-01-01

    Full Text Available A imunofenotipagem por citometria de fluxo (CMF é atualmente uma ferramenta indispensável para o diagnóstico hematopatológico. Nos últimos anos muitos progressos foram alcançados em instrumentação, novos anticorpos e fluorocromos e programas de análise. Consequentemente, houve um grande avanço no conhecimento da patogênese das neoplasias hematológicas e novos marcadores diagnósticos e prognósticos foram descritos. Revisamos aqui a contribuição destas novas técnicas no diagnóstico diferencial de pacientes com bi- ou pancitopenia e linfocitose. São apresentados os achados mais frequentes e as dificuldades na interpretação dos resultados. Além disto, a importância do uso concomitante de um conjunto de outras técnicas diagnósticas é demonstrada.The use of flow cytometry for immunophenotyping is currently an essential tool in the diagnosis of hematological abnormalities. In recent years, new equipment, antibodies, fluorochromes and computer programs have become available. As a result, a better understanding of the pathogeneses of hematological malignancies has emerged and new markers with diagnostic and prognostic relevance have been described. Here we review how this new technology may contribute to the differential diagnosis of patients with bi- or pancytopenia and of lymphocytosis. The common findings as well as the difficulties in interpreting the results obtained by flow cytometry will be discussed. The importance of the concomitant analyses by different methods is also demonstrated.

  2. Dil Biliminin Kelime Öğretimine Açılan Kapısı: Bağlam Türleri Linguistic Gateway to the Vocabulary Teaching: Types of Context

    Directory of Open Access Journals (Sweden)

    Havva YAMAN

    2012-09-01

    ğretiminde işe koşulabilecek bağlam türlerine yönelik farklı sınıflandırmaları ortaya koymaktır. Bu amaçla öncelikle, tümdengelimci bir yaklaşımla, dil biliminin alt dallarından olan anlam biliminin ve metin dil biliminin kelime öğretimiyle ilişkisi kurulmuştur. Farklı araştırmacıların bağlam türlerini nasıl sınıflandırdığı incelenmiştir. Bağlam türlerine yönelik farklı sınıflandırmaları ortaya koymak amacıyla yapılan bu araştırmanın sonucunda, yerli kaynaklarda bağlama yönelik çalışmalar olmakla birlikte, bağlam türlerinin ayrı bir başlık olarak açılmadığı ve sistemli bir şekilde incelenmediği görülmüştür. Kelime öğretimi amacıyla, zayıf bağlamlı kelimelerin bağlamının kasıtlı olarak güçlendirildiği çalışmalar dikkati çekmiştir. Buna göre bir metinde öğretilmek istenen kelime veya kelime grubu, kasıtlı olarak güçlendirilmiş bir bağlamla sunulmalıdır. Farklı sınıflandırmalar arasında karşılaşılan pedagojik bağlam türü, anlamı bilinmeyen kelime ile ilgili özenle hazırlanmış ipuçları içermesi sebebiyle ve metin içerisinde yalnızca ilgili cümlenin yazı alanıyla sınırlı olması sebebiyle diğer bağlam türlerinden üstün görülmüştür. Sonuç olarak bağlam türlerine yönelik kuramsal bilgilerin uygulama boyutuna aktarılmasıyla, kelime öğretimi sürecinin daha planlı ve bilinçli bir seviyeye ulaşacağı beklenmektedir. Ana dili öğretimi sürecinde ve yabancı dil öğretimi sürecinde, kelime/kelime grubu bağlamlarının kasıtlı olarak önceden güçlendirildiği bağlama dayalı etkinlikler yapılması önerilmiştir. Türkçe öğretiminde, kelime öğretimi çalışmalarında, cümle düzeyinde çalışılıyorsa pedagojik bağlamlardan, paragraf düzeyinde çalışılıyorsa yönlendirici bağlamlardan yararlanılması önerilmiştir. Ayrıca sözlük hazırlayıcılarına, madde başı birimlerin temel ve yan anlamlarını

  3. Dumping Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  4. Anticonvulsant hypersensitivity syndrome to lamotrigine confirmed by lymphocyte stimulation in vitro

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    Karande Sunil

    2006-02-01

    Full Text Available Anticonvulsant hypersensitivity syndrome (AHS developing to lamotrigine, a non-aromatic anticonvulsant, has rarely been reported. We present a two-year-old boy with refractory epilepsy on valproic acid and lamotrigine therapy who developed fever and a maculopapular itchy rash. Blood investigations detected lymphocytosis and thrombocytopenia. With a presumptive diagnosis of AHS, lamotrigine was discontinued. The fever and rash resolved over the next three days and the child was discharged on valproic acid and clobazam. The diagnosis was confirmed by in vitro lymphocyte toxicity assay, which not only demonstrated increased cell death following exposure to lamotrigine, but also to the three first-line aromatic anticonvulsants: phenytoin, phenobarbital and carbamazepine. The potential of first-line aromatic anticonvulsants to cause AHS should be remembered in a patient who has developed AHS on exposure to lamotrigine. Timely recognition of this rare but potentially fatal drug reaction is important.

  5. Cushing syndrome

    Science.gov (United States)

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

  6. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... two medicines that affect the body's level of serotonin are taken together at the same time. The ...

  7. CM-Dil与DAPI联合标记人羊膜上皮细胞的可行性研究%Feasibility of CM-Dil combined with DAPI double-labeling human amniotic epithelial cells

    Institute of Scientific and Technical Information of China (English)

    王黎; 周清; 杨艳; 陈剑; 徐锦堂

    2013-01-01

    目的 建立人羊膜上皮细胞(human amniotic epithelial cell,HAEC)的体外培养方法,并探讨氯甲基苯甲酰胺(CM-Dil)与4’,6-二脒基-2-苯基吲哚(DAPI)对HAEC进行联合标记示踪的可行性.方法 运用酶消化法获取HAEC,收集第2代细胞,流式细胞仪检测CD29、CD34、CD44、CD45和CD105的表达率,SP免疫化学法鉴定HAEC.CM-Dil与DAPI对HAEC进行体外标记,荧光倒置显微镜下观察1d、7d和14 d的标记情况,台盼蓝染色检测细胞活力,CCK-8法检测细胞增殖以明确联合标记对体外培养HAEC生长特性的影响.结果 HAEC贴壁培养后呈扁平多角形,CD29、CD34、CD44、CD45和CD105的阳性率分别为99.64%、2.21%、32.41%、0.84%、36.70%,细胞角蛋白Keratin阳性表达.HAEC在CM-Dil和DAPI联合标记1d后,荧光显微镜下可观察到细胞膜和细胞核分别在不同波长下呈红色和蓝色荧光,标记率为100%;14 d后,经传代培养的HAEC荧光强度与1d时相近,细胞形态无改变.台盼蓝染色显示标记细胞存活率为96.8% ~ 98.9%,CCK-8检测标记细胞的增殖力较未标记组差异无统计学意义(P>0.05).结论 CM-Dil和DAPI可有效标记HAEC,染色简单、无细胞毒性,荧光衰减较慢,可作为HAEC的标记及示踪方法.

  8. Gardner Syndrome

    Science.gov (United States)

    ... Home > Types of Cancer > Gardner Syndrome Request Permissions Gardner Syndrome Approved by the Cancer.Net Editorial Board , 06/2014 What is Gardner syndrome? Gardner syndrome is a subtype of familial ...

  9. Sembol, Sembolik Dil ve Bu Bağlamda Mesnevî’nin İlk 18 Beytindeki Sembolik Unsurlar Symbol, Symbolical Language and in This Sense Symbolical Elements in the First 18 Couplet of Mesnevî

    Directory of Open Access Journals (Sweden)

    Şener DEMİREL

    2012-09-01

    Full Text Available One of the issues which draw attraction in the studies that have been conducted on Mevlana’s Mesnevi up to now is that quite rich symbolical language was used in Mesnevi. Mevlana was attracted by the smybolical narration included in various religious and literary works which had been written before him – being Koran in the first place - and tried to express many issues, notably narrations, through symbolical language. Symbolical language and narration is the kind of narration whichcan be found and referred to nearly at all religions and literature.Although such kind of discourse false/lacking understandings;expressing feelings and thoughts implicitly but not directly, in otherwords conveying them through some symbolical values enablesexpressions to be more attractiv and readers to think creatively.This paper is basically composed of three sections. In the firstsection, based on the meanings of terms such as symbol, allegory,metaphore and figure of speeches, their similarities and differences willbe discussed; in the second section it will be expressed throughexamples that symbolical language or similar usages were used invarious religious and literary texts before Mesnevi; in the third and lastsection some of the symbolical elements of the first 18 couplets ofTurkish paraphrase of Mesnevi which were especially emphasized andexplained by the commentators will be discussed. Geçmişten günümüze Mevlânâ’nın Mesnevî’si üzerine yapılan çalışmalarda dikkat çekilen hususlardan biri de Mesnevî’de oldukça zengin bir sembolik dilin kullanılmış olmasıdır. Mevlânâ, başta Kur’ân-ı Kerîm olmak üzere, kendisinden önce kaleme alınmış birçok dinî ve edebî eserdeki sembolik anlatımı, kendisi de benimsemiş ve başta hikâyeler olmak üzere dile getirmeye çalıştığı birçok konuyu sembolik dil aracılığıyla ifade etmeye çalışmıştır. Sembolik dil veya anlatım, hemen hemen bütün dinlerde ve

  10. A computational analysis of Canale-Smith syndrome: chronic lymphadenopathy simulating malignant lymphoma.

    Science.gov (United States)

    Krueger, Gerhard R F; Brandt, Michael E; Wang, Guanyu; Berthold, Frank; Buja, L Maximilian

    2002-01-01

    The objective of this study was to simulate changes in the human T cell system representing Canale-Smith syndrome using a dynamic computer model of T cell development and comparing with available human data. Physiological stepwise maturation and function of T lymphocytes in the computer model is altered by introducing functional disturbances following lymphotropic virus infection. In the present model, acute and chronic persistent infection with the human herpesvirus-6 (HHV-6) was simulated, and ensuing changes in T cell populations were compared with those measured in human patients. Using our computer model we previously found that simulated acute HHV-6 infection produced T cell computer data, which resembled an infectious mononucleosis-like disease in patients. Simulated chronic persistent infection, instead, resulted in variable cell changes comparing well to patients with chronic fatigue syndrome. In one setting, however, persistent immature lymphocytosis was observed similar to what initial has been described in this journal as Canale-Smith syndrome. Using a computer model developed by us we were able to produce simulations that resemble the immune system features of Canale-Smith syndrome. Further understanding of these simulation results may possibly guide future investigations into this disorder.

  11. EGFP和CM-Dil示踪骨髓间充质干细胞构建组织工程骨的体内研究%The in vivo study of tissue engineered bone constructed with EGFP and CM-Dil labeled BMSCs

    Institute of Scientific and Technical Information of China (English)

    武京国; 谢方南; 马慧雨; 王黔; 曹谊林; 肖苒

    2012-01-01

    目的:应用增强型绿色荧光蛋白(Enhanced green fluorescent protein,EGFP)和CM-Dil标记技术,观察组织工程骨在体内形成过程中种子细胞的变化和转归.方法:分别用EGFP慢病毒表达和CM-Dil染料的方法标记比格犬骨髓间充质干细胞(Bone mesenchymal stem cells,BMSCs),MTT法检测标记细胞的体外增殖能力.BMSCs接种珊瑚支架体外成骨诱导7天后,将未标记组、EGFP组和CM-Dil组分别植入裸鼠背部皮下,空白支架作为阴性对照.术后4、8、12周取材,HE染色观察成骨情况,EGFP组采用GFP免疫组化、CM-Dil组冰冻切片荧光显微镜下示踪BMSCs在体内的变化.结果:两种标记技术能高效标记BMSCs,标记前后细胞的体外增殖无显著性差异(P>0.05).细胞-支架复合物植入体内12周后有新生骨形成,标记细胞数量随时间延长而逐渐减少,12周后仍显示有部分标记细胞存活.结论:EGFP和CM-Dil可用于示踪组织工程种子细胞,通过示踪说明BMSCs在体内组织工程骨成骨过程中发挥了重要作用.%Objective To observe the effect of BMSCs in fabricating tissue engineering bone in vivo using EGFP andCM-Dil labeling technology. Methods BMSCs isolated from Beagle Dogs were labeled using EGFP and CM -Dilseparately and the proliferation abilities were analyzed by MTT assay. BMSCs were seeded onto the coral scaffolds andcultured in the osteogenic medium for 7 days.Then the BMSCs/Coral constructs were implanted into the nude micessubcutaneously.The constructs were divided into three groups:Unlabeled group,EGFP group,CM -Dil group.Thespecimens were collected respectively at 4,8 and 12 weeks after implantation and tissue engineered bone wasevaluated by HE staining.The seeded BMSCs were traced by immunohistochemistry staining of GFP in the EGFP groupand directly observed in the frozen section under the fluorescence microscope in the CM-Dil. Results BMSCs werelabeled efficiently by both GFP and CM-Dil labeling technology and

  12. Drug reaction with eosinophilia and systemic symptoms syndrome in a patient taking phenytoin and levetiracetam: a case report

    Directory of Open Access Journals (Sweden)

    Hall David Jeffrey

    2013-01-01

    Full Text Available Abstract Introduction Drug reaction with eosinophilia and systemic symptoms syndrome is a potentially life-threatening hypersensitivity reaction with rash, fever, and internal organ involvement, often hepatitis, occurring most commonly two to eight weeks after initiation of a medication. The present case is an example of severe and potentially life-threatening hepatitis as a manifestation of drug reaction with eosinophilia and systemic symptoms syndrome. Case presentation We report a case of anti-epileptic-induced drug reaction with eosinophilia and systemic symptoms syndrome in an 18-year-old African-American man who presented with a five-day history of rash, periorbital and upper extremity edema, hepatitis and fever. Laboratory findings revealed an atypical lymphocytosis, eosinophilia, and elevated serum transaminases. No drug allergies were reported at the time of presentation, but phenytoin and levetiracetam therapy had been initiated five weeks prior to hospital admission for new-onset seizures. Both medications were discontinued on hospital admission, and after three days of high-dose corticosteroid therapy the patient experienced resolution of both his symptoms and laboratory markers of inflammation. Conclusion Given the significant mortality attributed to drug reaction with eosinophilia and systemic symptoms syndrome, medical personnel should be aware of the potential for this severe hypersensitivity reaction and should ensure close follow-up and offer anticipatory guidance when beginning any new medication, particularly anti-epileptic therapy. Early recognition of drug reaction with eosinophilia and systemic symptoms syndrome and initiation of appropriate therapy are imperative in limiting morbidity.

  13. Yabancı Dil Türkçe Öğreten İngilizce Öğretmenleri İle Bir Durum İncelemesi: “Türkçe Balta Girmemiş Orman" A Case Study With English Teachers Teaching Turkish As A Foreign Languge: “Turkish An Untouched Forest”

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    Serra YAVUZ

    2013-09-01

    Full Text Available Learning Turkish as a foreign language has gained importanceand popularity in the past few decades around the world. As aconsequence of this growing demand, institutions are obliged to offermore courses for learners and train more effective educators of Turkishas a foreign language. Turkish is still being taught widely byacademicians who mostly have not received any training courses,seminars, teaching practice opportunities or even lesson observationopportunities before they enter this area of teaching. Turkish as aforeign language courses are mostly being taught by educators whohold Linguistics, Turkish Language and Literature, Turkish, English,French or German Language Education degrees. In this study, selfefficacybelief levels of English teachers who are teaching their nativelanguage, Turkish, as a foreign language was measured. Data wascollected through a survey, personal interviews and block lessonobservations. Collected data was used to determine the levels of selfefficacybeliefs, the effects of being a native speaker of the targetlanguage, and difficulties in teaching Turkish grammar. Results showthat even though they are the native speakers of Turkish, Englishteachers’ self-efficacy belief levels were low, and this state affects thechoice of in-class activities and other educational decisions of theparticular teachers. Son yıllarda dünyada yabancı dil olarak Türkçe öğrenmek isteyenlerin sayısındaki artış, ilgili eğitim kurumlarının bu alanda daha çok arzda bulunmasını, bu arzı sağlayabilmek için de donanımlı öğretmen yetiştirmesini zorunlu kılmıştır. Yabancı dil olarak Türkçe eğitimi günümüzde hâlâ anadili Türkçe olan ancak çoğunluğu Türkçenin yabancı dil olarak öğretilmesine yönelik bir eğitim almamış akademisyenler tarafından yürütülmektedir. Bu akademisyenler çoğunlukla Dilbilim, Türk Dili ve Edebiyatı, Türkçe, İngilizce, Fransızca, Almanca Öğretmenlikleri b

  14. İkinci/Yabancı Dil Öğretiminde Özgün ve Değiştirilmiş Dilsel Girdi Üzerine On The Authentic And Modified Input In The Second/Foreign Language Teaching

    Directory of Open Access Journals (Sweden)

    Mustafa DURMUŞ

    2013-03-01

    Full Text Available In the language teaching, the subject of input presented to learnersand comprehension level of these inputs by learners are one of thesignificant fields. Because of this, how these inputs are presented tolearners are also important. These inputs learners exposed can be authentictexts which are produced in natural communication environment of thosewho speak target language as native language and also can be modifiedtexts which are produced by modifying authentic texts according toproficiency level of target group or by natural way considering the anxiety oflearners. Modified texts also can be presented as simplified or elaboratedtexts. In this paper, significance of reading comprehension, selection ofauthentic or modified text and types of modification in the process oflanguage teaching will be discussed. It should be noted that it is notpossible to find a particular usage area for each of these text types in thesecond/foreign language teaching process. However, while creating teachingmaterials, the teaching process can be enchanced by using authentic,simplified or elaborated texts because simplified and elaborated textsupgrade the level of learners and positively influence their learning motives.Authentic texts, because of their natural language material, help learners topractise their communication skills in the target language. The articlereveals the theoretical features that produce authentic texts or types ofmodified texts, and the aspects of these text types that may be foundbenefical or that make them difficult to understand by pointig to theprincipal literature on the subject. In this regard, the article is a theoreticaland descriptive study that produce framework that provides basis forimplementations of the publishers who have to prepare texts for targetgroups and of the faculty members who have to prepare texts for theirsecond/foreign language learners. Dil öğretiminde öğreniciye sunulan dilsel girdi (input ve bu dilsel girdinin

  15. Metabolic Syndrome

    Science.gov (United States)

    ... hypertension, hypertriglyceridemia, insulin resistance syndrome, low HDL cholesterol, Metabolic Syndrome, overweight, syndrome x, type 2 diabetes Family Health, Kids and Teens, Men, Women January 2005 Copyright © American Academy of Family PhysiciansThis ...

  16. Marfan Syndrome

    Science.gov (United States)

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

  17. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  18. Fahr's Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Fahr's Syndrome Information Page Fahr's Syndrome Information Page What research is being done? ... and conducts research on neurogenetic disorders such as Fahr's Syndrome. The goals of this research are to ...

  19. Effects of cassava diet on Cercopithecus aethiops livers: a case for cassava as the cause of both tropical splenomegaly syndrome (TSS) and endomyocardial fibrosis (EMF).

    Science.gov (United States)

    Sezi, C L

    1996-05-01

    The aetiology of endomyocardial fibrosis (EMF) and tropical splenomegaly syndrome (TSS) though speculative, was considered by the author to be the same or related since the two diseases may occur in the same individual and locality. Accordingly, when attempting to prove a hypothesis for the causation of EMF that prolonged ingestion of tuber (cassava/tapioca) associated with extreme deprivation of protein causes EMF; one group of three Cercopithecus aethiops was fed on uncooked cassava while a second group was fed with uncooked bananas and in addition to harvesting the hearts whenever the animal health deteriorated, livers were also harvested for histological changes. While hearts from the animals on cassava revealed changes seen in human EMF the livers from the same animals exhibited Kupffer cell hyperplasia and hypertrophy as well as sinusoidal lymphocytosis, features seen in human TSS thereby confirming that the aetiology of these two diseases is the same. However, the banana diet did not produce such changes.

  20. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  1. Hindistan’da Yabancı Dil Olarak Türkçe Öğrenen Genç-Yetişkinlerin Öğrenme Geçmişlerinin Bazı Değişkenlere Göre İncelenmesi The Investigation Of Learning Histories Of Young-Adult Turkish As A Foreign Language Learners In India According To Some Variables

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    Adem İŞCAN

    2012-12-01

    Full Text Available The aim of this study is to investigate Turkish as ForeignLanguage learners’ learning histories and their Turkish learning casesby associating with many variables such as age, and nationality. Thisinquiry, then, figured out the existing Turkish learning cases in India.The languages acquired by Indians students learning Turkish as aForeign Language (TFL are shown the proportion. In this scale, the caseof learning Turkish was shown. The portion of gender, race and agefactors of TFL learners were taken into consideration.In this study, non-relational descriptive research technique wasused. The sampling of this research consists of 110 Turkish as foreignlanguage learners in India. As a data collection tool, a questionnairewas used developed by researchers by inspiring from the study of Buran(2008 for the acquisition and learning processes in Kyrgyzstan.The data were analyzed by SPSS 16.0 software. As a result of theexisting findings, it was seen that Turkish language was learnt as aforeign language after English as a second language. It was also seenwith the reference of learning histories of the participants that at leasttwo foreign languages were learnt besides Hindu and English. There aremany factors orienting the foreign language learning process. Weunderline from these factors the biological conditions, cognitive andsentimental notions, teaching methods and social and environmentalfacts. In light of these facts, it was seen that the language teaching inIndia was influenced by all of them in a positive way. This case showsus the advance level of strategically developing India about secondlanguage acquisition. Bu çalışmada Hindistan’da yabancı dil olarak Türkçe öğrenen genç-yetişkin öğrencilerin dil öğrenme geçmişlerinin yaş ve ulus gibi bazı değişkenlerin temel alınarak araştırılması amaçlanmaktadır. Böylece Hindistan���da Türkçenin yabancı dil olarak öğrenilmesi ile ilgili durum ortaya konulmaya çal

  2. Derleme Sözlüğü'ndeki Gizli Dil Verileri Üzerine On The Data From Some Secret Languages In Derleme Sözlüğü

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    Faruk YILDIRIM

    2012-12-01

    Full Text Available In this paper, an attempt has been made to frame the term “secret language,” to discuss the secret languages in Turkey and narrow regions‟ jargons, and to reflect upon some data transferred from secret languages to the Derleme Sözlüğü.In the Derleme Sözlüğü the words cıvır „woman, teenage girl‟; geben „foreigner‟; geder „donkey‟; gerez „ornate, elegant, stylish, cute, belle, cocotte‟; gıyla, gıylam „sexual organ of a male‟; hersit „bread‟; heziklemek „to beat up‟; manış „the third person who the other twospeak behind his/her back‟; and yeken „money‟ were analyzed. Thesewords in the Abdal secret language are as cıvır „woman, teenage girl‟;geder „donkey‟; gerez „ornate, elegant, stylish, cute, belle, cocotte‟; gıyla,gıylam „sexual organ of a male‟; hersit „bread‟; heziklemek „to beat up‟;manış „man‟; yeken „money‟ respectively. Not only in the Abdal secretlanguage, but some of these words considered can be seen in thevocabulary of other Turkish origin secret languages such as the Çepnisecret language, Tokat Geygel secret language, the secret language ofEastern Anatolian nomads, and Cyprus Gurbets‟ secret language. Somewords are also used in narrow regions‟ tradesmen jargon, other secretlanguages with no Turkish background and in secret languages usedoutside of Turkey. In the paper, the etymology of the words which arenot originally Turkish was analyzed, the secret languages which thesewords are used in were determined, and the data obtained wereinterpreted, and conclusions were reached. Bu makalede; gizli dil teriminin çerçevesi çizilmeye çalışılmış, Türkiye‟deki gizli diller ve dar bölge meslek argolarından söz edilmiş ve gizli dillerden Türkiye‟de Halk Ağzından Derleme Sözlüğü‟ne yansıyan bazı veriler üzerinde durulmuştur. Yazının temel amacı, Derleme Sözlüğü‟nde yer alan bazı kelimelerin gerçekte T

  3. Bilmecelerin Dil-Düşünme Bağlamında Eğitimdeki Yeri ve Önemi The Place and Importance of Riddles in the Context of Language and Thinking

    Directory of Open Access Journals (Sweden)

    Elif Emine BALTA

    2013-03-01

    bilmeceler, eski popülerliğini kaybetmiştir. Yaşam koşullarının farklılaşması, sosyal ortamların niteliğini değişmesi, bireyselleşme ve benzer sebepler, insanların ihtiyaçları ve anlayışlarında olduğu gibi ilgi ve zevklerini de değiştirdiği için bu durum normal karşılanabilir.Akademik anlamda, bilmeceler ile ilgili çalışmalar halkbilim sahasında sınırlı kalmıştır. Bu sahada yapılmış olan değerli çalışmalar ise eğitim-öğretim boyutunda yeteri kadar değerlendirilmemiştir. Eğitim öğretim alanında da bilmecelere yeteri kadar yer verilmediği görülmektedir. Oysa bilmeceler, dil ve kavram öğretiminde, bunlarla yakından ilişkili olan düşünme öğretiminde de başarı sağlamada araç olarak kullanılabilecek zenginlik ve derinlik özelliğine sahiptir. Eğitim-öğretim sürecinde, bilmecelerin en önemli katkısı, anadili eğitiminde görülür. Kavram öğretiminde ve kelime hazinesini zenginleştirmede bilmeceler yardımcı araç olarak görülebilir. Bilmecede cevabı arama süreci dinamiktir; birey, zihninden geçen tüm kavramları soruda belirtilen özellikleri ile karşılaştırır. Açık bir ifadeyle bilmeceler üst düzey düşünme becerilerinden olan yaratıcı düşünme, eleştirel düşünme ve problem çözme becerileri ile ilişkilidir. Bilmecelerin eğitsel ve düşünsel bağlamda değerinin farkına varılmalı ve diğer edebi türler gibi eğitim ortamlarına dahil edilmelidir. Bu çalışmada, bilmece türünün eğitim-öğretimde etkili bir araç, zengin bir uyaran olarak yeri ve önemi belirlenmiş ve açıklanmıştır.

  4. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  5. Association of severe myoclonic epilepsy of infancy (SMEI with probable autoimmune lymphoproliferative syndrome-variant

    Directory of Open Access Journals (Sweden)

    A. Berio

    2014-12-01

    Full Text Available The paper reported on a case of severe myoclonic epilepsy of infancy (SMEI associated with a probable autoimmune lymphoproliferative syndrome variant (Dianzani autoimmune lymphoproliferative disease (DALD. A male patient with typical features of SMEI and a SCN1A gene variant presented in the first year of life with multiple lymph nodes, palpable liver at 2 cm from the costal margin, neutropenia, dysgammaglobulinemia, relative and sometimes absolute lymphocytosis. Subsequently the patient presented with constantly raised IgA in serum and positive antinuclear and thyroid antimicrosomal antibodies. The diagnosis of probable autoimmune lymphoproliferative syndrome was made; arthritis, skin and throat blisters, which appeared subsequently led to the diagnosis of linear IgA disease. On the basis of these unique associations, the Authors hypothesized that autoimmunity may be partly responsible of the severe epileptic symptomatology, perhaps mediated by autoantibodies against sodium channels or by accompanying cytotoxic T-lymphocytes. Corticosteroid treatment ameliorated the epilepsy and laboratory tests. Future studies will be necessary to evaluate the relevance of autoimmunity in SMEI.

  6. Syndromic autism: II. Genetic syndromes associated with autism

    National Research Council Canada - National Science Library

    Artigas-Pallarés, J; Gabau-Vila, E; Guitart-Feliubadaló, M

    2005-01-01

    ..., tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert...

  7. Edwards' syndrome.

    Science.gov (United States)

    Crawford, Doreen; Dearmun, Annette

    2016-12-08

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

  8. Dravet Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  9. Paraneoplastic Syndromes

    Science.gov (United States)

    ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ...

  10. 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 ...

  11. 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 ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  12. Lynch Syndrome

    Science.gov (United States)

    ... colon cancer may include surgery, chemotherapy and radiation therapy. Cancer screening for people with Lynch syndrome If you ... et al. Milestones of Lynch syndrome: 1895-2015. Nature Reviews Cancer. http://www.nature.com/nrc/journal/vaop/ncurrent/ ...

  13. Metabolic Syndrome

    Science.gov (United States)

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

  14. Meckel syndrome

    National Research Council Canada - National Science Library

    Salonen, R; Paavola, P

    1998-01-01

    Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases...

  15. Angelman Syndrome

    Science.gov (United States)

    ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ...

  16. Apert Syndrome.

    Science.gov (United States)

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

    2014-09-01

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

  17. Learning about Down Syndrome

    Science.gov (United States)

    ... genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What are the symptoms ... syndrome Additional Resources for Down Syndrome What is Down syndrome? Down syndrome is a chromosomal condition related to ...

  18. Velocardiofacial Syndrome

    Science.gov (United States)

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

    2009-01-01

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

  19. Fraser syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Kumari M

    2008-04-01

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

  20. 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.

  1. Wallenberg's Syndrome

    Science.gov (United States)

    ... Information Page You are here Home » Disorders » All Disorders Wallenberg's Syndrome Information Page Wallenberg's Syndrome Information Page What ... better ways to prevent, treat, and ultimately cure disorders such as Wallenberg’s syndrome. Information from the National Library of Medicine’s ...

  2. The Effect of Using Different Lexical Sets in Vocabulary Teaching to the Learners of Turkish as a Foreign Language / Yabancı Dil Olarak Türkçe Öğrenenlere Kelime Öğretiminde Farklı Kelime Gruplarının Kullanımının Etkisi

    Directory of Open Access Journals (Sweden)

    Mehmet Volkan DEMİREL

    2013-12-01

    Full Text Available This study aims to examine whether presenting vocabulary using semantically-related, thematically-related, and semantically-unrelated word sets has an effect on Turkish as a foreign language learners’ receptive vocabulary learning. The sample of this quantitative study were 21 students studying Turkish at the Dokuz Eylul University Center of Language Education and Research as of 2012-2013 academic year. Post-tests and delayed post-tests designed in line with the research topic constituted the data gathering instruments. In the study, the participants were presented 8 words in each lesson during 9 lesson hours of intervention, piling up 72 words. At the end of each lesson, post-tests on the target vocabulary were administered to the participants, and after the intervention period, delayed post-tests were applied in equal time intervals. Bu çalışmanın amacı Türkçe kelimelerin anlamsal bağıntılı, bir konu etrafında dönen ve anlamca birbirinden bağımsız kelime grupları ile sunulmasının yabancı dil olarak Türkçe öğrenen öğrencilerin algısal kelime öğreniminde hangisinin daha etkili olduğunu araştırmaktır. Nicel bir çalışma olan araştırmanın örneklemini 2012 – 2013 öğretim yılında Dokuz Eylül Üniversitesi Dil Eğitimi ve Araştırmaları Merkezi’nde Türkçe öğrenen 21 öğrenci oluşturmuştur. Çalışmanın konusuna uygun olarak belirlenen alt problemlere yönelik hazırlanmış son testler ve ötelenmiş son testler veri toplama araçları olarak kullanılmıştır. Bu çalışmada öğrencilere her bir derste 8 kelime olmak üzere 9 saatlik uygulama sonunda 72 kelime sunulmuştur. Her dersin sonunda öğrencilere öğrendikleri kelimeler ile ilgili son test uygulanmış ve ders anlatımları bittikten sonra da eşit zaman aralıklarında ötelenmiş son testler uygulanmıştır.

  3. Refeeding syndrome.

    Science.gov (United States)

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  4. [Metabolic syndrome].

    Science.gov (United States)

    Mitsuishi, Masanori; Miyashita, Kazutoshi; Itoh, Hiroshi

    2009-02-01

    Metabolic syndrome, which is consisted of hypertension, dyslipidemia and impaired glucose tolerance, is one of the most significant lifestyle-related disorders that lead to cardiovascular diseases. Among many upstream factors that are related to metabolic syndrome, obesity, especially visceral obesity, plays an essential role in its pathogenesis. In recent studies, possible mechanisms which connect obesity to metabolic syndrome have been elucidated, such as inflammation, abnormal secretion of adipokines and mitochondrial dysfunction. In this review, we focus on the relationship between obesity and metabolic syndrome; and illustrate how visceral obesity contributes to, and how the treatments for obesity act on metabolic syndrome.

  5. [Autoinflammatory syndrome].

    Science.gov (United States)

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

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

  6. Temel Söz Varlığı Bağlamında Türkçe Ve Almancada En Sık Kullanılan Elli Eylemin Söz-Eylem Kuramı Çerçevesinde Dil-Yapısal Ve Kültürel Açıdan Karşılaştırılması Basic Vocabulury In Context Comparison Of Perspective Lingua-Structure And Culture Most Frequently Used Fifty Actions In Turkish And German In The Frame Of Statement-Action Theory

    Directory of Open Access Journals (Sweden)

    Faik KANATLI

    2013-09-01

    Full Text Available It is a common point linguists and language trainers agree on thatbasic vocabulary plays a determinant role in both native and secondlanguage acquisition and teaching. Another point on which thosescientists agree is that language acquisition and teaching is also anacquisition and teaching of culture. By leading aforementionedassumptions, in this study, most frequently used fifty verbs in Turkishand German will be classified according to statement-action theory andcompared in terms of lingua-structure and culture. Through thecomparison based on frequency and statement-action theory, this studyaims to make inferences that will probably contribute to both teachingGerman to Turkish speaker as a foreign language and teaching Turkishto German speaker as a foreign language. The study will be built ondata from Tschirner 2008 and Ozkan 2012. Correspondence and noncorrespondencebetween Turkish and German will be interpreted andjustified in most frequently used first fifty verbs.Main thesis of the study is that determination and comparison ofmost frequently used fifty verbs in native and foreign language will beeffective in teaching basic vocabulary gradually through action focusedgrammar (Valanzgrammatik. Another emphasis of the study is thatsequencing of first fifty verbs reflects the cultural priority of nativespeakers. Findings and inference of the study Turkish education,Turkish education as a foreign language and foreign language educationis expected to contribute. Findings and inference will be based onprogressive teaching of the word. In this regard, this study may resolvesome of the shortcomings in the literature. Gerek birinci gerek ikinci dil edinimi ve öğretiminde temel söz varlığının belirleyici bir rol oynadığı dilbilimci ve dil eğitimcilerinin ortaklaştığı noktadır. Söz konusu bilimcilerin görüş birliği içinde olduğu bir başka nokta, dil edinimi ve öğretiminin aynı zamanda bir kültür edinimi ve öğretimi oldu

  7. Türkçeyi Yabancı Dil Olarak Öğrenenlerin Konuşma Kaygılarının Değerlendirilmesi An Evaluation of Speaking Anxiety for Learners of Turkish as A Foreign Language

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    Muhammed Eyyüp SALLABAŞ

    2012-09-01

    Full Text Available Language, a tool for maintaining transmission of feelings, thoughts and desires, has two dimensions, such as understanding and telling. Talking, which is oral transmission of information, opinions andimpressions of the mankind over his life to the opposing person, iswithin the telling dimension of the language and composing the basictool of self-expressing. Oral expression has an important position inlanguage training both for society and as a skill. Speaking skill is leaststudied language skill and it is of great importance in teaching Turkishas a foreign language. The aim of this study is to determine anxieties oflearners of Turkish as a foreign language and to assess them in terms ofvarious variables. The study was carried out with survey model. Thestudy group is composed of 68 students attending C level (HighTurkish courses at Taksim branch of Ankara University Center forTeaching Turkish as a Foreign Language. Data for the study wascollected via Speaking Anxiety Scale, which was developed by Özdemirand Personal Information Form. Data collected in line with the aims ofthe study was analyzed with analysis techniques suitable for thecharacteristics of the data using SPSS - 16.0 program. Findings werepresented in tables and interpreted. T-test was administrated to findout if data show significant difference in terms of two variables and oneway variance analysis (ANOVA was used to test if data show significantdifference in terms of more than two variables. In this study, it wasdetermined that anxiety levels of learners who think that Turkish is nota difficult language were significant lower than those of learners whothink that it is a difficult language and that there was not a significantdifference in terms of other variables. Dil duygu, düşünce ve isteklerin aktarılmasını sağlayan bir araçtır. Dilin anlama ve anlatma olarak iki boyutu vardır. İnsanın hayatı boyunca edindiği bilgi, görüş, izlenim ve düşüncelerini kar

  8. Tablet PC Destekli Türkçe Öğretiminin Temel Dil Becerilerine Etkisini Belirlemeye Yönelik Ölçek Çalışması A Scale Study Of Tablet PC Based Teaching Turkish Language To Determine The Effect On Basic Language Skills

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    Süleyman BALCI

    2013-07-01

    Full Text Available In this study, the use of Turkish language course based on tabletpc is aimed to develop a valid and reliable attitude scale whichdetermines the impact of language skills, In the process of creation anddevelopment of the draft scale, item pool was created and consultedexperts with scaning. In 5-point Likert- type scale which has thenumber of questions the premise of the draft 20 item, the use of tabletpc basic language skills in Turkish language course (reading, listening,speaking and writing contains substances to determine whether thereis an effect. Substances, were obtained by transforming the pattern oflanguage skills achievements into question that were determined inTurkish curriculum. Draft scale was applied to 114 students studyingat year 5 of Uşak City Center of Yaşar Akar and Bingol City CenterIMKB Fatih Elementary School of which were selected as pilot area ofFatih Project. Content validity of the scale were based on expert opinion.As a result of factor analysis to determine the validity of the structureconsisting of 16 items, factor loadings .50 - .84 between the threedimensions of explaining covering 56% of the total variance wereobtained from a scale. 9 of the scale items were positive, 7 of themcontains negative expression. Kaiser-Meyer-Olkin value of the scale was.85, .00 and the Bartlett test of significance value of the Cronbach'salpha internal consistency coefficient was found to be .90. As a result ofthe review of the literature to determine the impact of language skills inTurkish language course based on the use of tablet pc in the sense ofbeing seen as a lack of scale, lack of validity and reliability of this scaleprovided is thought to contribute to the field. Bu çalışmada, Türkçe dersinde tablet pc kullanımının temel dil becerilerine etkisini belirlemeye yarayan, geçerli ve güvenilir bir tutum ölçeği geliştirilmesi amaçlanmıştır. Taslak ölçek oluşturma ve geliştirme sürecinde alan taraması yap

  9. Stevens-Johnson syndrome and toxic epidermal necrolysis due to anticonvulsants share certain clinical and laboratory features with drug-induced hypersensitivity syndrome, despite differences in cutaneous presentations.

    Science.gov (United States)

    Teraki, Y; Shibuya, M; Izaki, S

    2010-10-01

    Drug-induced hypersensitivity syndrome (DIHS)/drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is characterized by late disease onset, fever, rash, hepatic dysfunction, haematological abnormalities, lymphadenopathy and often, human herpesvirus (HHV) reactivation. The diagnosis of DIHS is based on the combined presence of these findings. Anticonvulsants are a major cause of DIHS and may also cause Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). We examined whether SJS/TEN due to anticonvulsants display similar clinical and laboratory features seen in DIHS. Patients diagnosed with SJS or TEN due to anticonvulsants (n = 8) were examined and their clinical features and laboratory findings were compared with patients with anticonvulsant-related DIHS (n = 6). Seven of the eight patients with SJS/TEN developed symptoms > 3 weeks after starting anticonvulsants. Hepatic dysfunction was present in six patients with SJS/TEN and five patients with DIHS. Leucocytosis and/or eosinophilia was noted in seven patients with SJS/TEN and four patients with DIHS. Only one patient in the SJS/TEN group had atypical lymphocytosis; this was present in four patients with DIHS. Reactivation of HHV-6 was detected in one of the four patients tested in the SJS/TEN group, although it was seen in five of the six patients with DIHS. TSJS/TEN due to anticonvulsants may exhibit some clinical and laboratory features of DIHS. The nature of the cutaneous involvement should be emphasized in the diagnosis of DIHS. © 2009 The Author(s). Journal compilation © 2009 British Association of Dermatologists.

  10. Wellens' syndrome

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    Franco Lai

    2007-12-01

    Full Text Available We report a case of quite rare cause of thoracic pain suspected by emergency physician as Wellens’ syndrome. Wellens’ syndrome is a pattern of electrocardiographic T-wave changes associated with critical, proximal left anterior descending artery (LAD. This syndrome is about 10-15% of all unstable angina in emergency department (ED. The cardiologic consult was obtained in ED and it was not conclusive for a Wellens’ syndrome, so that the diagnostistic planning was wrong. The authors point out the importance of this syndrome in ED and the necessity of an urgent angiographic study as every acute coronary syndrome presented in ED. We remark the importance in ED to recognize these changes associated with critical LAD obstruction and the high risk for anterior wall myocardial infarction.

  11. [Autoinflammatory syndromes].

    Science.gov (United States)

    Lamprecht, P; Gross, W L

    2009-06-01

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

  12. Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases.

    Science.gov (United States)

    Billard, C; Dulac, O; Bouloche, J; Echenne, B; Lebon, P; Motte, J; Robain, O; Santini, J J

    1989-02-01

    Calcifications of the basal ganglia are described under the heading of "Fahr's syndrome". The clinical pattern is variable and the syndrome may be sporadic or familial. This study describes a personal series of 14 cases of encephalopathy with calcification of the basal ganglia and reviews the literature cases. A four-group classification is proposed. The first group includes encephalopathy, microcephaly, dwarfism, retinal degeneration or optic atrophy, symmetrical patchy demyelination with calcifications and probable autosomal recessive inheritance. Some cases have an early onset, a rapid evolution. Others have a later onset, longer course and retinal degeneration. In the second group, the children suffer from a congenital encephalopathy or a cerebral palsy without clear deterioration, without short stature, ocular impairment or persistent CSF abnormalities. This group has not been reported in the literature. The cases do not seem to be genetic. The precise cause in unknown but a sporadic non progressive anoxo-ischemic, or viral prenatal disease is suggested. In the third group, the association of encephalopathy, microcephaly, and persistent CSF lymphocytosis, has a high recurrence rate. The pathogenesis is still a matter of dispute. The fourth group is characterized by autosomal dominant calcifications of the basal ganglia with or without neurological abnormalities. Finally calcium metabolism disorders and mitochondrial encephalomyopathy may be associated with calcifications of the basal ganglia.

  13. Urofacial syndrome

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    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.

  14. Gorlin syndrome

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    Basanti Devi

    2013-01-01

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

  15. Gorlin syndrome.

    Science.gov (United States)

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

    2013-05-01

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

  16. Metabolic syndrome

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    Gogia Atul

    2006-02-01

    Full Text Available The Metabolic syndrome is a widely prevalent and multi-factorial disorder. The syndrome has been given several names, including- the metabolic syndrome, the insulin resistance syndrome, the plurimetabolic syndrome, and the deadly quartet. With the formulation of NCEP/ATP III guidelines, some uniformity and standardization has occurred in the definition of metabolic syndrome and has been very useful for epidemiological purposes. The mechanisms underlying the metabolic syndrome are not fully known; however resistance to insulin stimulated glucose uptake seems to modify biochemical responses in a way that predisposes to metabolic risk factors. The clinical relevance of the metabolic syndrome is related to its role in the development of cardiovascular disease. Management of the metabolic syndrome involves patient-education and intervention at various levels. Weight reduction is one of the main stays of treatment. In this article we comprehensively discuss this syndrome- the epidemiology, pathogenesis, clinical relevance and management. The need to do a comprehensive review of this particular syndrome has arisen in view of the ever increasing incidence of this entitiy. Soon, metabolic syndrome will overtake cigarette smoking as the number one risk factor for heart disease among the US population. Hardly any issue of any primary care medical journal can be opened without encountering an article on type 2 diabetes, dyslipidemia or hypertension. It is rare to see type 2 diabetes, dyslipidemia, obesity or hypertension in isolation. Insulin resistance and resulting hyperinsulinemia have been implicated in the development of glucose intolerance (and progression to type 2 diabetes, hypertriglyceridemia, hypertension, polycystic ovary yndrome, hypercoagulability and vascular inflammation, as well as the eventual development of atherosclerotic cardiovascular disease manifested as myocardial infarction, stroke and myriad end organ diseases. Conversely

  17. Revesz syndrome

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    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.

  18. 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....

  19. 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, causi...

  20. Turner Syndrome

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    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  1. Myelodysplastic Syndromes

    Science.gov (United States)

    ... your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. ... anemia, or easy bleeding. Myelodysplastic syndromes often do ...

  2. Proteus syndrome

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    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  3. Franceschetti syndrome

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    Vikrant Kasat

    2011-01-01

    Full Text Available Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS. It is named after E. Treacher Collins who described the essential components of the condition. It affects both genders equally. This article reports a case of TCS in an 18-year-old female.

  4. LEOPARD syndrome

    Science.gov (United States)

    ... L, Strano S, Carbone A, Calvieri C, Giustini S. LEOPARD syndrome. Dermatol Online J . 2008;14(3):7. PMID: 18627709 www.ncbi.nlm.nih.gov/pubmed/18627709 . Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. Orphanet J Rare Dis . 2008;3:13. PMID: ...

  5. Turner Syndrome

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    Akcan AB.

    2013-06-01

    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  6. Poland syndrome

    OpenAIRE

    Chandra Madhur Sharma; Shrawan Kumar; Meghwani, Manoj K.; Agrawal, Ravi P.

    2014-01-01

    Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  7. Poland syndrome

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    Chandra Madhur Sharma

    2014-01-01

    Full Text Available Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  8. Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation

    Science.gov (United States)

    Xie, Yi; Pittaluga, Stefania; Price, Susan; Raffeld, Mark; Hahn, Jamie; Jaffe, Elaine S.; Rao, V. Koneti; Maric, Irina

    2017-01-01

    Autoimmune lymphoproliferative syndrome is a rare genetic disorder characterized by defective FAS-mediated apoptosis, autoimmune disease, accumulation of mature T-cell receptor alpha/beta positive, CD4 and CD8 double-negative T cells and increased risk of lymphoma. Despite frequent hematologic abnormalities, literature is scarce regarding the bone marrow pathology in autoimmune lymphoproliferative syndrome. We retrospectively reviewed 3l bone marrow biopsies from a cohort of 240 patients with germline FAS mutations. All biopsies were performed for the evaluation of cytopenias or to rule out lymphoma. Clinical information was collected and morphological, immunohistochemical, flow cytometric and molecular studies were performed. Bone marrow lymphocytosis was the predominant feature, present in 74% (23/31) of biopsies. The lymphoid cells showed several different patterns of infiltration, most often forming aggregates comprising T cells in 15 cases, B cells in one and a mixture of T and B cells in the other seven cases. Double-negative T cells were detected by immunohistochemistry in the minority of cases (10/31; 32%); significantly, all but one of these cases had prominent double-negative T-lymphoid aggregates, which in four cases diffusely replaced the marrow space. One case showed features of Rosai-Dorfman disease, containing scattered S-100+ cells with emperipolesis and double-negative T cells. No clonal B or T cells were detected by polymerase chain reaction in any evaluated cases. Classical Hodgkin lymphoma was identified in three cases. Our results demonstrate that infiltrates of T cells, or rarely B cells, can be extensive in patients with autoimmune lymphoproliferative syndrome, mimicking lymphoma. A multi-modality approach, integrating clinical, histological, immunohistochemical as well as other ancillary tests, can help avoid this diagnostic pitfall. This study is registered at Clinicaltrials.gov ID # NCT00001350 PMID:27846610

  9. Drug reaction with eosinophilia and systemic symptoms syndrome is not uncommon and shows better clinical outcome than generally recognised.

    Science.gov (United States)

    Nam, Y H; Park, M R; Nam, H J; Lee, S K; Kim, K H; Roh, M S; Um, S-J; Son, C-H

    2015-01-01

    Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare disease which can cause severe morbidity and mortality. The aim of this study is to evaluate the clinical manifestation and course of DRESS syndrome. We conducted a retrospective analysis of prospectively collected data in 45 patients with DRESS syndrome diagnosed between September 2009 and August 2011. The most common causative drug group was antibiotics (n=13, 28.9%), followed by anticonvulsants (n=12, 26.7%), antituberculosis drugs (n=6, 13.3%), non-steroidal anti-inflammatory drugs (n=4, 8.9%), undetermined agents (n=4, 8.9%), allopurinol (n=3, 6.7%), and others (n=3, 6.7%). The latency period ranged from 2 to 120 days, with a mean of 20.2 ± 24.3 days. The longest latency period was noted for the antituberculosis drug group, at 46.5 ± 29.9 days. Eosinophilia in peripheral blood examination was noted in 35 subjects (77.8%). Atypical lymphocytosis was noted in 16 patients (35.6%), and thrombocytopenia in seven patients (15.6%). Hepatic involvement was noted in 39 (86.7%) study patients, kidney in eight (17.8%), lung in four (8.9%), and central nervous system in one (2.3%). Systemic corticosteroids were administered to 10 patients (22.2%). Forty-three patients (95.6%) showed complete recovery, while two patients had poor outcomes. DRESS syndrome was not more uncommon than generally recognised. Antibiotics were the most frequently implicated drug group, followed by anticonvulsants. Most patients with this disease showed a better clinical outcome than that which had been generally expected. Copyright © 2013 SEICAP. Published by Elsevier Espana. All rights reserved.

  10. Tezkire-i Buğra Han’ın Çağatayca Yazılmış Bir Nüshası Metin- Dil İncelemesi- Tıpkıbasım A Manuscript Of Tazkira-i Bughra Khan Written In Chagatay Turkısh Texte- Grammar Notes- Facsimile

    Directory of Open Access Journals (Sweden)

    B. Erdem DAĞISTANLIOĞLU

    2012-12-01

    ındaki bilgiler oldukça sınırlıdır. Bu dönem hakkındaki bilinmezliklerin benzeri, İslamiyet’in Türkler arasında yayılmasında büyük bir yeri bulunan ve efsanevi özellikler taşıyan Satuk Buğra Han için de geçerlidir.Bu makale, Türklerin İslamiyeti kitle hâlinde kabul edişlerini ve ilk Müslüman Türk hükümdarının efsanevi hayatını anlatan Tezkire-i Buğra Han kitabının 19. yüzyılda Çağatayca olarak kaleme alınmış bir nüshasının çeviri yazı ve dil incelemesini içermektedir.Çalışmamıza konu olan eser, Klasik Çağataycanın dil özelliklerini taşımakla beraber, Özbekçe ve Çağdaş Uygurcanın ses ve şekil bilgisi özelliklerini de barındırmaktadır. Tezkire-i Buğra Han kitabı gerek ses gerekse şekil bilgisi bakımından Çağatayca öncesi arkaik örnekleri de içermektedir. Eser bu özellikleriyle, hem Çağataycadan çağdaş Türk lehçelerine geçişi yansıtmakta hem de içerdiği arkaik yapılarla dikkat çekmektedir.Yazmanın Çağatayca dışında en çok Çağdaş Uygurcanın dil özelliklerini barındırdığı görülmektedir. Kitabın ilk sayfasındaki karışık bir hâlde yazılmış ifadelerin içinden tespit edebildiğimiz tārįħķa bir min g iki yüz yėtmiş1 ….. inal aķsuluķ taĥrįri āħir boldı cümlesi eserin Çağdaş Uygurcayla olan bağını da açıklar niteliktedir.Bu makalede söz konusu yazma eserin bütünü hakkında, yazarı, yazıldığı yüzyıl, diğer nüshaları vb. özellikleri bakımından bilgi verilmiş olup yalnızca Satuk Buğra Han menkabesinin geçtiği kısmın çeviri yazılı metni sunulmuştur. Ayrıca incelenen kısmın tıpkıbasımı da makalenin sonuna eklenmiştir.Bu yazıda, British Library’deki Or. 8161 numaralı metnin 83a-102b varakları arasındaki Satuk Buğra Han menkabesini esas almakla birlikte, dil incelemesinde gerek duyuldukça yazmanın bütünü göz önünde bulundurularak açıklamalar yapılmıştır.

  11. CHARGE syndrome

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    Prasad Chitra

    2006-09-01

    Full Text Available Abstract CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness. In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness. Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child

  12. Impact of Dictionary Type and Usage to Enhance Turkish Vocabulary in Teaching Turkish as a Foreign Language Yabancı Dil Türkçe Öğretiminde Sözlük Türleri ve Kullanımlarının Türkçe Sözvarlığını Geliştirmeye Etkisi

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    Gülden TÜM

    2012-12-01

    Full Text Available Vocabulary learning is one of the major challenges for many learners as it is an essential part of foreign language learning. Words are important linguistic parts to convey meanings and even to eliminate misunderstandings in communication. Currently, a new attitude on vocabulary learning is that it is not memorizing words in the contexts of serial lists (Fallahchai, 2011 and vocabulary instruction must be redefined to include more than just memorizing the meanings of words; therefore, some suggestion about learning vocabulary is utilizing dictionaries since they play a vital role to empower users to find appropriate usage of words and to continue communication as well. The purpose of this study is to determine to what extent dictionaries satisfy needs of foreign learners of Turkish, what type of dictionary is more beneficial, the role of dictionary type in the retention of meaning, whether the type of dictionary used will influence learners' Turkish learning attitudes and improve their learning outcomes, and finally to evaluate the effects of implementing dictionary skills instruction. The participants are 42 Erasmus students majoring at different faculties at Çukurova University, Adana, Turkey and also learning Turkish as a foreign language. The results indicated learning new Turkish word is complicated but it can be overcome by using appropriate dictionaries (bilingual, multilingual and electronic dictionaries etc.. Sözvarlığı öğrenimi dil öğrenmenin en önemli parçası ve aynı zamanda da birçok öğrenci için en temel zorluklardan birisidir. Sözcükler manaları aktaran hatta iletişimde yanlış anlaşılmaları ortadan kaldıran canlı ve önemli dil parçalarıdır. Sözvarlığı ile ilgili yapılmış olan birçok çalışma olmasına rağmen son zamanlarda sözvarlığının öğrenilmesi ve iletişimde kullanılmasıyla ilgili yeni bir eğilim ortaya çıkmıştır. Bu eğilim, dil öğretiminde sözcüklerin listeler

  13. Almancada ve Türkçede Davetiye Örneklerinin Biçim, İçerik ve Dil İşlevi Açısından Karşılaştırmalı Olarak İncelenmesi Comparative Analysis of Invitation Card Samples in Terms of Design, Text Type and Linguistic Function in German and Turkish

    Directory of Open Access Journals (Sweden)

    Faik ÖMÜR

    2012-09-01

    incelenmiştir. Bu çalışmada ele alınan davetiye örneklerinin bir kısmı elde bulunan, biriktirilmiş davetiyelerden, bir kısmı da internet ortamında çok sık kullanılan davetiye örneklerinden seçilmiştir. Türkçe davetiyelerde geçen metinler, veciz sözler ve diğer sözceler Almancaya çevrilmiştir. Metinlerde yer alan dizeler, nazım özelliği taşıdığı için biçimsel olarak birebir çevrilemeyeceğinden dolayı, anlam bütünlüğü veya anlam eşdeğerliliği göz önünde bulundurularak çevirinin kolayca görülebilmesi için tablo biçiminde verilmiştir. Türkçe ve Almancada davetiye örnekleri üzerinde çok fazla çalışma olmadığından bu çalışmanın önemli bir boşluğu dolduracağı düşünülmüş olup davetiyelerin kapsamı belirli konu ve bakış açısıyla sınırlandırılmıştır. Çalışma daha ziyade sosyokültürel ve sosyodilbilimsel açıdan ele alınmıştır. Kullanmalık metin özelliği taşıyan davetiyeler; içerik, biçim ve dil işlevleri açısından incelenmiştir. Çalışma dört bölümden oluşmaktadır. Çalışmanın birinci bölümünde davetiye metin tanımları verilmiştir. İkinci bölümde Türkçe sünnet ve evlenme, Almancada vaftiz ve evlenme ile ilgili davetiye örnekleri seçilmiştir. Üçüncü bölümde davetiye örnekleri; tasarım, metin türü, dil ve içerik bakımından karşılaştırılmıştır. Dördüncü bölümde davetiye örneklerinin kültürel, kültürlerarasılık, ekonomik, yabancı dil öğretimi, edebi yönü, tarihsel gelişimi ve değişimi bakımından benzerlikleri ve farklılıkları ortaya konulmuştur.

  14. CLOVES syndrome.

    Science.gov (United States)

    Bloom, Jacob; Upton, Joseph

    2013-12-01

    A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes.

  15. Hubris syndrome.

    Science.gov (United States)

    Owen, David

    2008-08-01

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

  16. HYDROLETHALUS SYNDROME

    Directory of Open Access Journals (Sweden)

    Aradhana

    2013-06-01

    Full Text Available INTRODUCTION: Hydrolethalus Syndrome (HLS is a rare lethal genetic syndrome, recognized as a consequence of a study on Meckle syndrome in Finland .1 HLS is characterized by multiple developmental defects of fetus which include fetal hydrocephalus, agenesis of corpus callosum, absent midline structures of brain, Cleft lip and cleft palate, defective lobulation of lungs, micrognathia and very characteristic abnormality of polydactyly. About 80% of patients have polydactyly, in hands it is postaxial and preaxial in feet with duplicated big toe. A highly characteristic hallux duplex is seen in almost no other situation .2 Club feet is also common.

  17. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

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

  18. Jerusalem syndrome.

    Science.gov (United States)

    Bar-el, Y; Durst, R; Katz, G; Zislin, J; Strauss, Z; Knobler, H Y

    2000-01-01

    Jerusalem's psychiatrists expect to encounter, as the millennium approaches, an ever-increasing number of tourists who, upon arriving in Jerusalem, may suffer psychotic decompensation. To describe the Jerusalem syndrome as a unique acute psychotic state. This analysis is based on accumulated clinical experience and phenomenological data consisting of cultural and religious perspectives. Three main categories of the syndrome are identified and described, with special focus on the category pertaining to spontaneous manifestations, unconfounded by previous psychotic history or psychopathology. The discrete form of the Jerusalem syndrome is related to religious excitement induced by proximity to the holy places of Jerusalem, and is indicated by seven characteristic sequential stages.

  19. [Autoinflammatory syndromes/fever syndromes].

    Science.gov (United States)

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

    2011-05-01

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

  20. Marfan syndrome

    Science.gov (United States)

    ... at least once every year. Alternative Names Aortic aneurysm - ... syndrome. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 702. ...

  1. Reye Syndrome

    Science.gov (United States)

    ... A Life After Diagnosis Support for Chronic Illness Corporate Partnerships Interview with Kristen Hanks Liver Lowdown July ... poor blood clotting and bleeding caused by liver failure. What are the symptoms of Reye syndrome? Reye ...

  2. [Refeeding syndrome].

    Science.gov (United States)

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

    2016-01-01

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

  3. Premenstrual syndrome

    National Research Council Canada - National Science Library

    Kwan, Irene; Onwude, Joseph Loze

    2015-01-01

    A woman has premenstrual syndrome (PMS) if she complains of recurrent psychological and/or physical symptoms occurring during the luteal phase of the menstrual cycle, and often resolving by the end of menstruation...

  4. Zellweger Syndrome

    Science.gov (United States)

    ... done? The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, ...

  5. Autoinflammatory syndromes.

    Science.gov (United States)

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

    2006-01-01

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

  6. Piriformis Syndrome

    Science.gov (United States)

    ... of sitting for a long period of time, climbing stairs, walking, or running. × Definition Piriformis syndrome is a ... of sitting for a long period of time, climbing stairs, walking, or running. View Full Definition Treatment Generally, ...

  7. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart,...

  8. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil

    1993-01-01

    Full Text Available An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.

  9. Neurocutaneous Syndromes

    Science.gov (United States)

    ... affect kids include: neurofibromatosis, types 1 and 2 (NF1 and NF2) Sturge-Weber syndrome tuberous sclerosis (TS) ... forms of this disorder are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and Schwannomatosis. NF1 is ...

  10. Usher Syndrome

    Science.gov (United States)

    ... optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, ... syndrome gene have a child together, with each birth there is a: 1-in-4 chance of ...

  11. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne;

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  12. Beals Syndrome

    Science.gov (United States)

    ... arachnoldactyly (CCA), which refers to the joint contractures (shortening) that are key features of the syndrome. How ... remain contracted for long periods of time, the muscles can become tight and short, restricting movement. When ...

  13. Isaac's Syndrome

    Science.gov (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  14. Noonan syndrome

    Science.gov (United States)

    ... chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests ... to consider genetic counseling before having children. Images Pectus excavatum References Ali O, Donohoue PA. Noonan syndrome. In: ...

  15. Dressler's Syndrome

    Science.gov (United States)

    ... syndrome can cause more-serious complications, including: Cardiac tamponade. Inflammation of the pericardium can cause fluids to ... including: Draining excess fluids. If you develop cardiac tamponade, your doctor will likely recommend a procedure (pericardiocentesis) ...

  16. [Mobius syndrome].

    Science.gov (United States)

    Vladuţiu, Cristina; Duma, Ionela

    2012-01-01

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

  17. Down Syndrome

    Science.gov (United States)

    ... Diagnostic tests that can identify Down syndrome include: Amniocentesis. A sample of the amniotic fluid surrounding the ... somewhat higher risk of miscarriage than second trimester amniocentesis. Cordocentesis. In this test, also known as percutaneous ...

  18. Metabolic syndrome

    Science.gov (United States)

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

  19. Eagle's Syndrome

    OpenAIRE

    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 diffic...

  20. SAPHO syndrome.

    Science.gov (United States)

    Carneiro, Sueli; Sampaio-Barros, Percival D

    2013-05-01

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

  1. Carpenter syndrome.

    Science.gov (United States)

    Hidestrand, Pip; Vasconez, Henry; Cottrill, Carol

    2009-01-01

    Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull base abnormalities, with early fusion in different sutures), midface hypoplasia, and musculoskeletal abnormalities. Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106). The brachycephaly is caused by early fusion in the coronal, sagittal, and lambdoidal sutures (Proc R Soc Med Sect Study Dis Child 1909). Most of the affected patients have a surgical procedure between 3 to 9 months of age to open the cranial vault to make space for the brain to grow (Plast Reconstr Surg 1978;62:335). We present a patient with Carpenter syndrome who is unusual in that she is an adult who has never had surgical intervention.

  2. Metabolic Syndrome (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome A A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  3. Down Syndrome (For Kids)

    Science.gov (United States)

    ... CPR: A Real Lifesaver Kids Talk About: Coaches Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  4. Juvenile Polyposis Syndrome

    Science.gov (United States)

    ... Types of Cancer > Juvenile Polyposis Syndrome Request Permissions Juvenile Polyposis Syndrome Approved by the Cancer.Net Editorial Board , 12/2015 What is juvenile polyposis syndrome? Juvenile polyposis syndrome (JPS) is a ...

  5. Cardiac Syndrome X

    Science.gov (United States)

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

  6. 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 ...

  7. What is Metabolic Syndrome?

    Science.gov (United States)

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

  8. Learning about WAGR Syndrome

    Science.gov (United States)

    ... used are: WAGR Complex Wilms' Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Wilms' Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Chromosome 11p deletion syndrome 11p deletion syndrome The cause ...

  9. Escobar syndrome mimicing congenital patellar syndrome

    National Research Council Canada - National Science Library

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

    2012-01-01

    ...) syndrome is a rare syndrome. Intrauterin growth reterdation, abnormal face, wide-spead pterygiums that resulted in joint contractures, ptosis, chryptoorchidism, patellar dysplasia and foot deformities are seen on this syndrome...

  10. 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.

  11. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata

    2008-01-01

    Full Text Available We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  12. Compartment syndromes

    Science.gov (United States)

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

    1989-01-01

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

  13. Compartment syndromes

    Science.gov (United States)

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

    1989-01-01

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

  14. Microcephaly syndromes.

    Science.gov (United States)

    Abuelo, Dianne

    2007-09-01

    The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.

  15. Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-02-01

    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method for definite diagnosis, trials searching for both neuroimaging and specific serum biomarkers stil continue. The treatment of the syndrome is mainly of palliative nature. Information, education, reassurance and multifaceted rehabilitation programmes can be beneficial. There are promising trials reporting the effectiveness of cognitive behavioral therapy in the treatment of postconcussional syndrome. [Archives Medical Review Journal 2013; 22(1.000: 96-109

  16. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network...... of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third...

  17. [Serotonin syndrome].

    Science.gov (United States)

    Lheureux, P; Penaloza, A; De Cottenier, V; Ullmann, U; Gris, M

    2002-10-01

    The serotonin syndrome is a hyperserotoninergic state resulting from an excess of intrasynaptic 5-hydroxytryptamine, induced by multiple psychotropic agents, but also non psychiatric drugs. It is a potentially dangerous and sometimes lethal condition. The clinical manifestations usually include cognitive, neuromuscular and autonomic features and are mediated by the action of serotonin on various subtypes of receptors. The main differential diagnosis is the neuroleptic malignant syndrome. Treatment is mainly supportive. No pharmacological agent has been definitely demonstrated really effective. However, reports of cases treated with the 5-HT2 blockers, including cyproheptadine or chlorpromazine have suggested that these agents could have some efficacy. Serotonin syndrome is a toxic condition which requires heightened clinical awareness among physicians in order to prevent, recognize, and treat the condition promptly.

  18. [Autoinflammatory syndromes].

    Science.gov (United States)

    Gomes, José Melo; Gomes, Sónia Melo; Conde, Marta

    2010-01-01

    Autoinflammatory syndromes (AIS) are a heterogeneous group of congenital diseases characterized by the presence of recurrent episodes of fever and local or generalized inflammation, in the absence of infectious agents, detectable auto-antibodies or antigen-specific autoreactive T-cells. These diseases have been much better understood during the past 15 years, mainly due to the marked advances of the Human Genoma Project and its implications in the identification and characterization of genetic mutations. In this paper we make a revision of the classification of AIS and focus our attention specially on the cryopyrin-associated periodic syndromes (CAPS), in particular the CINCA syndrome that shares many clinical characteristics with juvenile idiopathic arthritis.

  19. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci

    2010-10-01

    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  20. Necip Fazıl Kısakürek’in “Kaldırımlar” Şiiri Üzerine Dil Bilimsel Bir Çözümleme A Linguistic Analysis On Necip Fazıl Kısakurek’s Poem Called As ‘Kaldırımlar’

    Directory of Open Access Journals (Sweden)

    Yusuf TEPELİ

    2013-03-01

    Full Text Available Language is the basic material of poetry as it is for any otherliterary types and in terms of this view, it has a big share on thepermenance of the poetry. As the poetry can not be considered apart fromthe language, critization of poetry can not be practiced apart from thelanguage, either. Instead of transferring the feelings which poetry gives,the atmosphere which poetry makes readers feel to the readers with a setof subjective considerations, explaining with a scientific method whichdepends on the core of the poetry was influential on the coming out of thisstudy. The poet's creating original images with variations andtransferrings, utilization of literal elements and the easy goingconverzation which is given by the spoken language has an influence onthe choice of the poem of Necip Fazıl Kısaku rek for this study. The poetput down on paper mystic poems which he transferred his intense internalfeud, the reflections of the turbulents of his soul with the reality of theouter world. The poem "Kaldırımlar" serves us ideal language materials interms of all those facilities inside it.In this work, the poem of Necip Fazıl Kısaku rek which is namedKaldırımlar is tried to be analyzed with a linguistic view. In order to dothis, Dog an Aksan's method of poet examination which is shown ondifferent poems is practiced on a text while his work named "S iir Dili veTu rk S iir Dili" is taken as base.In the first chapter of the study which is composed by two chapters,it is basically dwelled on the types on the words; in the second chapter, thesemantical and semiological examination of the words which composes thetext was made and the findings were transferred with tabulating. Thewords mentioned in the text were examined in terms of kind, meaningdirection, literal elements with analysing the degree of the value of thefeelings, frequency and the setting of the relations among them. Dil, diğer edebi türler gibi şiirin de temel malzemesidir ve bu y

  1. 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.

  2. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  3. [PFAPA syndrome].

    Science.gov (United States)

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

    2009-01-01

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

  4. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  5. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G;

    2009-01-01

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

  6. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  7. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  8. Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Siroos Risbaf

    2013-01-01

    Full Text Available Gorlin syndrome is a dominant autosomal familial disorder. The manifestations begin at an early age and a combination of phenotypic abnormalities such special facial appearance, jaw cysts and skeletal anomalies are seen in this disease. A 22-year-old woman referred to Zahedan Dental School complaining of pain on the left cheek. During the examination, several cutaneous lesions in the neck, pits in palm and sole and multiple jaw cysts were observed. According to the clinical symptoms, lesion biopsy and reports of Gorlin syndrome radiography were presented.

  9. [Wilkie's syndrome].

    Science.gov (United States)

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

    2008-10-01

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

  10. Morbihan syndrome.

    Science.gov (United States)

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

    2013-04-01

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

  11. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

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

  12. 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.

  13. 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. Althou

  14. Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Hande Peynirci

    2013-09-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7

  15. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    /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...

  16. Dumping Syndrome

    Science.gov (United States)

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

  17. Brugada Syndrome

    Science.gov (United States)

    ... to look at your heart's electrical activity (electrophysiology study), you'll need to fast for eight to 12 hours before your test. Write down any symptoms you're experiencing, including any that may seem unrelated to Brugada syndrome. Write down key personal information, especially any family ...

  18. Bloom syndrome.

    Science.gov (United States)

    Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan

    2014-07-01

    Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.

  19. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  20. Chylomicronemia syndrome

    Science.gov (United States)

    ... the blood. The disorder is passed down through families. Causes Chylomicronemia syndrome can occur due to a rare genetic disorder in which a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle. ...

  1. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  2. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  3. [Waardenburg's syndrome].

    Science.gov (United States)

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

    1994-01-01

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

  4. Waardenburg's syndrome.

    Science.gov (United States)

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

    1995-01-01

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

  5. Caplan syndrome

    Science.gov (United States)

    ... CT scan of the chest Joint x-rays Pulmonary function tests Rheumatoid factor test and other blood tests Treatment There is no specific treatment for Caplan syndrome, other than treating any lung and joint disease. ... MD, MHS, Associate Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, ...

  6. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer

    2004-01-01

    @@ The emergence of cardiac disease as the number one world-wide cause of death justifies efforts to identify individuals at higher risk for preventive therapy. The metabolic syndrome, originally described by Reaven, 1 has been associated with higher cardiovascular disease risk. 2 Type Ⅱ diabetes is also a frequent sequela. 3

  7. Sotos Syndrome

    Science.gov (United States)

    ... 663-4637) Sotos Syndrome Support Association P.O. Box 4626 Wheaton IL Wheaton, IL 60189 info@sotossyndrome.org http://www.sotossyndrome.org/ Tel: 888-246-7772 The Arc of the United States 1825 K Street, NW ...

  8. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

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

  9. Reifenstein syndrome

    Science.gov (United States)

    Androgens are most important during early development in the womb. People with Reifenstein syndrome can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. In the most severe cases, boys with outer female genitals ...

  10. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  11. [SAPHO syndrome].

    Science.gov (United States)

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

    2014-10-01

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

  12. University and Flipped Learning TIC & DIL Project: Framework and Design

    Science.gov (United States)

    Pinnelli, Stefania; Fiorucci, Andrea

    2015-01-01

    The flipped classroom approach (FC) is for the educational world a chance of recovery and improvement of pedagogical student-centered model and collaborative teaching methods aimed at optimizing the time resource and to promote personalization and self-learning in a perspective of autonomy. The paper moving from a pedagogical reflection on…

  13. Majanduspatriotism rajaneb müüdil / Nicolas Veron

    Index Scriptorium Estoniae

    Veron, Nicolas

    2006-01-01

    Ilmunud ka: Delovõje Vedomosti 8. nov. lk. 10, Molodjozh Estonii 17. nov. lk. 8-9 (täistekst). Majandusliku patriotismi mõiste. Euroopa suurfirmade kodumaal teenitud kogutulude maht väheneb. Tabel

  14. Majanduspatriotism rajaneb müüdil / Nicolas Veron

    Index Scriptorium Estoniae

    Veron, Nicolas

    2006-01-01

    Ilmunud ka: Delovõje Vedomosti 8. nov. lk. 10, Molodjozh Estonii 17. nov. lk. 8-9 (täistekst). Majandusliku patriotismi mõiste. Euroopa suurfirmade kodumaal teenitud kogutulude maht väheneb. Tabel

  15. Ibrutinib-induced lymphocytosis in patients with chronic lymphocytic leukemia

    DEFF Research Database (Denmark)

    Herman, S E M; Niemann, C U; Farooqui, M

    2014-01-01

    Ibrutinib and other targeted inhibitors of B-cell receptor signaling achieve impressive clinical results for patients with chronic lymphocytic leukemia (CLL). A treatment-induced rise in absolute lymphocyte count (ALC) has emerged as a class effect of kinase inhibitors in CLL and warrants further...

  16. Compartment syndromes

    Institute of Scientific and Technical Information of China (English)

    Aly Saber

    2014-01-01

    Body compartments bound by fascia and limited by bony backgrounds are found in the extremities, buttocks, abdomen and thoracic cavity; conditions that cause intracompartmental swelling and hypertension can lead to ischemia and limb loss.Although compartment syndromes are described in all body regions from head to toe, the etiology, diagnosis, treatment, and prevention are best characterized for three key body regions: the first is extremity, the second is abdominal, and the third is thoracic compartment syndromes.Thoracic compartment syndrome usually occurs as a result of pathological accumulation of air, fluid or blood in the mediastinum and has traditionally been described in trauma.As the intracranial contents are confined within a rigid bony cage, any increase in volume within thiscompartment as a result of brain oedema or an expanding traumatic intracranial haematoma, leads to a reciprocal decrease in the volume of cerebrospinal fluid and intracranial venous blood volume.Limb compartment syndromes may present either in acute or chronic clinical forms.Intra-abdominal pressure can be measured by direct or indirect methods.While the direct methods are quite accurate, theyare impractical and not feasible for routine practice.Indirect measurement is done through inferior vena cava, gastric, rectal and urinary bladder.Indirect measurement through urinary bladder is the simplest and is considered the method of choice for intra-abdominal pressure measurement.The management of patients with intra-abdominal hypertension is based on four important principles: the first is related to the specific procedures aiming at lowering intra-abdominal pressure and the consequences of intra-abdominal hypertension and abdominal compartment syndrome; the second is for general support and medical management of the critically ill patient; while the third is surgical decompression and the fourth is optimization after surgical decompression.

  17. Down Syndrome: Education

    Science.gov (United States)

    ... leading human rights organization for all individuals with Down syndrome. National Down Syndrome Society 8 E 41st Street, 8th Floor New ... New York 10017 800-221-4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & ...

  18. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... Where can I find more information regarding Down Syndrome? National Down Syndrome Society VISIT SITE » Downs Syndrome Association VISIT ...

  19. Sexuality and Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Shop NDSS Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self-esteem, ...

  20. Otodental syndrome

    Directory of Open Access Journals (Sweden)

    Bloch-Zupan Agnès

    2006-03-01

    Full Text Available Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves. The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

  1. 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...... necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre......-antibiotic era but has diminished with the advent of antibiotics. This review showed a mortality rate of only 2% of which none of the cases involved fusobacteria. Duration of treatment varied; a 4-6-week course of carbapenem or piperacillin/tazobactam in combination with metronidazole was optimum. Other...

  2. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  3. Antiphospholipid syndrome.

    Science.gov (United States)

    Cervera, Ricard

    2017-03-01

    The antiphospholipid syndrome (APS) is defined by the development of venous and/or arterial thromboses, often multiple, and pregnancy morbidity (mainly, recurrent fetal losses), in the presence of antiphospholipid antibodies (aPL). Some estimates indicate that the incidence of the APS is around 5 new cases per 100,000 persons per year and the prevalence around 40-50 cases per 100,000 persons. The aPL are positive in approximately 13% of patients with stroke, 11% with myocardial infarction, 9.5% of patients with deep vein thrombosis and 6% of patients with pregnancy morbidity. Currently, there is consensus in treating APS patients with thrombosis with long-term oral anticoagulation and to prevent obstetric manifestations with the use of aspirin and heparin. This review summarizes the main knowledge on the clinical and therapeutic aspects of this syndrome. © 2017 Elsevier Ltd. All rights reserved.

  4. Parinaud's syndrome.

    Science.gov (United States)

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

    1983-02-01

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

  5. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  6. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

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

  7. Fluency Disorders in Genetic Syndromes

    Science.gov (United States)

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

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

  8. Griscelli syndrome

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    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  9. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta

    2007-01-01

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  10. Postconcussional Syndrome

    OpenAIRE

    Necla Keskin; Lut Tamam

    2013-01-01

    Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral) symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method f...

  11. Fraser syndrome.

    Directory of Open Access Journals (Sweden)

    Chattopadhyay A

    1993-10-01

    Full Text Available Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.

  12. [Fibromyalgia syndrome].

    Science.gov (United States)

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

    1992-02-01

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

  13. Gerstmann's syndrome.

    OpenAIRE

    Sukumar, S.; Ferguson, G C

    1996-01-01

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

  14. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.

    2010-01-01

    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  15. Kartagener syndrome

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    Nedaa Skeik

    2011-01-01

    Full Text Available Nedaa Skeik1–3, Fadi I Jabr41Mayo Clinic, Rochester, MN, USA; 2Dartmouth Medical School, Hannover, NH, USA; 3New York Medical College, New York, NY, USA; 4Horizon Medical Center, Hospital Medicine, Dickson, TN, USAAbstract: Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tests to prove impaired cilia function, biopsy, and genetic studies. Treatment is supportive. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. We present a case of a 66-year-old woman with chronic recurrent upper respiratory infections, pseudomonal pneumonia, and chronic bronchiectasis who presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on her clinical presentation and genetic studies. She expired on ventilator with refractory respiratory and multiorgan failure.Keywords: chronic obstructive pulmonary disease, bronchiectasis, immotile cilia syndrome, situs inversus

  16. Crush syndrome

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    Emily Lovallo

    2012-09-01

    Full Text Available The first detailed cases of crush syndrome were described in 1941 in London after victims trapped beneath bombed buildings presented with swollen limbs, hypovolemic shock, dark urine, renal failure, and ultimately perished. The majority of the data and studies on this topic still draw from large databases of earthquake victims. However, in Africa, a continent with little seismic activity, the majority of crush syndrome cases are instead victims of severe beatings rather than earthquake casualties, and clinical suspicion by emergency personnel must be high in this patient group presenting with oliguria or pigmenturia. Damaged skeletal muscle fibres and cell membranes lead to an inflammatory cascade resulting in fluid sequestration in the injured extremity, hypotension, hyperkalemia and hypocalcemia and their complications, and renal injury from multiple sources. Elevations in the serum creatinine, creatine kinase (CK, and potassium levels are frequent findings in these patients, and can help guide critical steps in management. Fluid resuscitation should begin prior to extrication of trapped victims or as early as possible, as this basic intervention has been shown to in large part prevent progression of renal injury to requiring haemodialysis. Alkalinization of the urine and use of mannitol for forced diuresis are recommended therapies under specific circumstances and are supported by studies done in animal models, but have not been shown to change clinical outcomes in human crush victims. In the past 70 years the crush syndrome and its management have been studied more thoroughly, however clinical practice guidelines continue to evolve.

  17. Asperger Syndrome (For Parents)

    Science.gov (United States)

    ... Teaching Kids to Be Smart About Social Media Asperger Syndrome KidsHealth > For Parents > Asperger Syndrome Print A ... the medical community still use the term. About Asperger Syndrome The disorder is named after Hans Asperger, ...

  18. Genetic obesity syndromes.

    Science.gov (United States)

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

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

  19. Anesthesia & Down Syndrome

    Science.gov (United States)

    ... Health Care » Associated Conditions » Anesthesia & Down Syndrome Anesthesia & Down Syndrome Complications of anesthesia (sedation during surgery) occur in ... histories are complicated. Why Would an Individual With Down Syndrome Need A nesthesia? 40-60% of infants born ...

  20. Dental Issues & Down Syndrome

    Science.gov (United States)

    ... Associated Conditions » Dental Issues & Down Syndrome Dental Issues & Down Syndrome Dental care is important for everybody, but people ... is Different About the Teeth of People With Down Syndrome? Delayed Eruption The teeth of people with Down ...

  1. Heart and Down Syndrome

    Science.gov (United States)

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

  2. ADHD & Down Syndrome

    Science.gov (United States)

    ... Health Care » Associated Conditions » ADHD & Down Syndrome ADHD & Down Syndrome Attention deficit hyperactivity disorder, or ADHD, is a ... age. How Common Is ADD in Children With Down Syndrome? The frequency of ADHD in children with Down ...

  3. What Causes Down Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry​ . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  4. 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 between days ...

  5. Inherited ichthyosis: Syndromic forms.

    Science.gov (United States)

    Yoneda, Kozo

    2016-03-01

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

  6. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... Pharyngitis, Adenitis Syndrome (Juvenile) Polymyalgia Rheumatica Psoriatic Arthritis Raynaud's Phenomenon Reactive Arthritis Rheumatoid Arthritis Scleroderma Sjogren's Syndrome Spinal Stenosis Spondyloarthritis Systemic Lupus Erythematosus (Juvenile) Takayasu's ...

  7. Raynaud's syndrome and carpal tunnel syndrome.

    OpenAIRE

    Waller, D G; Dathan, J R

    1985-01-01

    We report three cases of Raynaud's syndrome with digital ischaemic ulceration, in association with carpal tunnel syndrome. In all cases, the aetiology of the Raynaud's syndrome was probably unrelated to the nerve compression. However, symptoms were worse on the side of the median nerve lesion in two patients and worse on the side with the most severe nerve dysfunction in the third; symptoms were relieved by carpal tunnel decompression in two patients. We suggest that carpal tunnel syndrome ma...

  8. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan Lata

    2012-01-01

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

  9. Morvan Syndrome

    Science.gov (United States)

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

    2016-01-01

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

  10. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

    1982-11-01

    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  11. Eagle Syndrome

    Directory of Open Access Journals (Sweden)

    Beytholahi JM

    1998-09-01

    Full Text Available Eagle's syndrome is characterized by an elongated styloid process and (or calcification of"nstylohyoid ligament besides clinical symptoms. The symptoms are those related to pain when"nswallowing or rotating the neck, headacke, earache, dizziness, intermittent glossitis, sensation of"nforeign body in pharynx and transient syncope. The case which is presented can be considered a very"nrare form of the disease in which complete calcification of the ligament and it's thickening has"noccured. Also there is little relationship between the severity of calcification and severity of symptoms."nA careful and thorough evaluation of each panoramic radiography is emphasized.

  12. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar

    2014-08-01

    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  13. Jacobsen syndrome.

    Science.gov (United States)

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

    2009-03-07

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

  14. Chilaiditi syndrome.

    Science.gov (United States)

    Walsh, S D; Cruikshank, J G

    1977-02-01

    The features of the Chilaiditi Syndrome are described, together with the historial background, and a brief review of the literature on the condition is given. The prevalence in our geriatric population was found to be 1% and the 13 cases seen over 22 months are reported briefly. The prevalence increases with age and may be related to the consumption of drugs by the elderly; although in the majority it is asymptomatic, it may, particularly when associated with gastrointestinal symptoms, lead to unnecessary laparotomy. In the geriatric patient, interposition of the bowel should be considered in the differential diagnosis of air under the right hemidiaphragm.

  15. Myofascial syndrome

    Directory of Open Access Journals (Sweden)

    Giancarlo Carli

    2008-12-01

    Full Text Available Myofascial pain syndrome is common cause one of musculoskeletal pain and it is characterized by trigger points (TP, limited range of motion in joints and local twitch response (LTR during mechanical stimulation of the TP. Trigger point is a hyperirritable spot in skeletal muscle that is associated with a hypersensitive palpable nodule in a taut band. The spot is tender when pressed and can give rise to characteristic referred pain, motor dysfunction and autonomic phenomena. Palpation is reliable diagnostic criterion for locating TP in patients. Treatment is based on anesthetise TP, stretch and spray, local pression and physical activity.

  16. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

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

  17. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  18. Refeeding syndrome.

    Science.gov (United States)

    Fuentebella, Judy; Kerner, John A

    2009-10-01

    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.

  19. 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.

  20. Lowe syndrome

    Directory of Open Access Journals (Sweden)

    Loi Mario

    2006-05-01

    Full Text Available Abstract Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5 bisphosphate 5 phosphatase, PtdIns (4,5P2, in the trans-Golgi network is responsible for the disease. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Life span rarely exceeds 40 years.

  1. Cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Sabry Omar

    2013-01-01

    Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

  2. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

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

  3. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  4. Sheehan's syndrome.

    Science.gov (United States)

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

    2013-04-01

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

  5. Klinefelter syndrome.

    Science.gov (United States)

    Smyth, C M; Bremner, W J

    1998-06-22

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

  6. Down Syndrome (For Parents)

    Science.gov (United States)

    ... Habits for TV, Video Games, and the Internet Down Syndrome KidsHealth > For Parents > Down Syndrome Print A A ... Help en español El síndrome de Down About Down Syndrome Down syndrome (DS), also called Trisomy 21, is ...

  7. Facts about Down Syndrome

    Science.gov (United States)

    ... label> Information For… Media Policy Makers Facts about Down Syndrome Language: English (US) Español (Spanish) Recommend on ... children with Down syndrome. View charts » What is Down Syndrome? Down syndrome is a condition in which a ...

  8. 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

  9. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2008-05-01

    Full Text Available Abstract LEOPARD syndrome (LS, OMIM 151100 is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS, chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should

  10. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

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

  11. Trichorhinophalangeal syndrome

    Directory of Open Access Journals (Sweden)

    Mario Vaccaro

    2017-07-01

    Full Text Available Trichorhinophalangeal syndrome (TRPS is the collective name of three rare congenital conditions characterised by craniofacial and skeletal abnormalities. The three known types of TRPS have different modalities of genetic transmission: namely, TRPS I and III are inherited as an autosomal dominant disease, while the cases of TRPS II are essentially sporadic.The diagnosis of the different types of TRPS is based on clinical and radiological findings, eventually integrated by genetic analysis, particularly useful in some cases with the non-classical clinical presentation. Alopecia and structural abnormalities of the nose and the hands should be considered as clinical hallmarks, whereas endocrine disorders, renal alterations, ureteral reflux, heart pathology and bone dysplasia have been documented, in the setting of a multisystem involvement.

  12. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Giuseppe Civardi

    2013-04-01

    Full Text Available Background: The last few years have seen a complete change in the etiopathogenetic features, classification and therapeutic approach of the hypereosinophilic syndrome (HES, a multiorgan targeted blood disease. The discovery of a genetic mutation and the occurrence of a new fusion gene, named FIP1L1-PDGFRA (FIP gene, in some patients allowed the identification of a new myeloproliferative disorder, M-HES: thereafter, the pivotal therapeutic role of the tyrosine kinase inhibitors, particularly, imatinib mesylate, was clearly detected. In the same period a new pathogenetic mechanism has been detected: some authors described the presence of a CD3-CD4 +Tcell clone correlating with the overproduction of IL5, a potent eosinophilic cell line stimulating cytokine. As a consequence an international consensus committee proposed a new classification for these syndromes, in accordance with these new pathogenetic features. The disease is characterized by an extensive tissue and organ damage due to an eosinophilic cell infiltration and leading to the release of toxic cytokines and subsequent organ dysfunction. The heart, lungs, gastrointestinal apparatus, skin and central nervous system are affected. Moreover the released cytokines can induce a thrombophilic status and thromboembolic events can occur throughout the body. Aim of the study: We describe the diagnostic procedures that are necessary in order to obtain a correct diagnosis and classification of the disease and to evaluate the presence of an organ and tissue damage. In particular, bone marrow biopsy and cytogenetic examination of blood and marrow are necessary for detecting M-HES cases that are positive for the FIP gene. In these patients, imatinib mesylate has a leading role for obtaining complete remission of the disease in a high percentage of cases. We also examine the therapeutic options for the other forms of the disease: prednisone, interferon, hydroxiurea are effective therapeutic tools in

  13. ADHD and genetic syndromes.

    Science.gov (United States)

    Lo-Castro, Adriana; D'Agati, Elisa; Curatolo, Paolo

    2011-06-01

    A high rate of Attention Deficit/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including syndromes with known genetic causes. In this article, we review the genetic and the neurobiological links between ADHD symptoms and some genetic syndromes such as: Fragile X Syndrome, Neurofibromatosis 1, DiGeorge Syndrome, Tuberous Sclerosis Complex, Turner Syndrome, Williams Syndrome and Klinefelter Syndrome. Although each syndrome may arise from different genetic abnormalities with multiple molecular functions, the effects of these abnormalities may give rise to common effects downstream in the biological pathways or neural circuits, resulting in the presentation of ADHD symptoms. Early diagnosis of ADHD allows for earlier treatment, and has the potential for a better outcome in children with genetic syndromes.

  14. First Trimester Down Syndrome Screen

    Science.gov (United States)

    ... disorder such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The first trimester screen is one ... chromosome material that results in Down syndrome or Edwards syndrome , the levels of PAPP-A tend to be ...

  15. Genetics Home Reference: Alport syndrome

    Science.gov (United States)

    ... Alport Syndrome Recessive Type MalaCards: alport syndrome Merck Manual Consumer Version My46 Trait Profile Orphanet: Alport syndrome Patient Support and Advocacy Resources (3 links) Alport Syndrome Foundation National Organization for Rare Disorders (NORD) The Kidney Foundation of ...

  16. Genetics Home Reference: Werner syndrome

    Science.gov (United States)

    ... for This Condition Adult premature aging syndrome Adult Progeria Werner's Syndrome Werners Syndrome WS Related Information How ... BK, Monnat RJ Jr. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. Nat ...

  17. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    ... PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart problems. Children with Down syndrome have round faces and almond-shaped eyes that ...

  18. Genetics Home Reference: Donohue syndrome

    Science.gov (United States)

    ... resistance syndromes. These disorders, which also include Rabson-Mendenhall syndrome and type A insulin resistance syndrome , are ... of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore). 2004 ...

  19. 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.

  20. Cushing syndrome in pediatrics.

    Science.gov (United States)

    Stratakis, Constantine A

    2012-12-01

    Cushing syndrome is characterized by truncal obesity, growth deceleration, skin changes, muscle weakness, and hypertension. Cushing syndrome in childhood usually results from the exogenous administration of glucocorticoids. This article presents the causes and discusses the treatment of endogenous Cushing syndrome. It also discusses the clinical and molecular genetics of inherited forms of this syndrome. Cushing syndrome needs to be diagnosed and treated properly when first recognized; improper treatment can turn this otherwise completely curable disorder into a chronic ailment. Barriers to optimal care of a pediatric patient with Cushing syndrome are discussed. Published by Elsevier Inc.

  1. The language of poverty or the effects of language codes of lower social class children on educational processYoksulluğun dili ya da alt sosyal sınıf çocuklarının dil kodlarının eğitim sürecine etkileri

    Directory of Open Access Journals (Sweden)

    Müjdat Avcı

    2013-03-01

    Full Text Available The objective of this study is to reveal the relations between the problems of children abandoning secondary education in family and educational processes and their sociolinguistic features due to their academic failure. In particular, Basil Bernstein’s opinion related to children belonging to different social classes on their having different language codes because of their socioeconomic and cultural properties was the starting point in our study. The research sheds light on the socio-linguistic dimension underlying school failure of 8 students suspended from the school due to absenteeism while studying at compulsory educational institutions within the vicinity of Erzincan province in 2012-2013 school terms. Theoretical background of the study concentrates on communication problems and failure related to family structure and school environment of the students. The research realized as a focus work is a descriptive study in which qualitative data collection and evaluation methods were performed. The preliminary preparation of the study, including literature review lasted six months while the field study lasted two months. Through focus group and in-depth interviews, data were collected related to the problems of children in the family and school lives and their expectations from parents, teachers and other institutions and suggestions on the subject were proposed related to theoretical background and the relevant literature. ÖzetBu çalışmanın amacı akademik başarısızlık nedeniyle ortaokuldan ayrılan çocukların aile ve eğitim sürecindeki sorunlarının sahip oldukları sosyo-linguistik özelliklerle olan bağlantısını ortaya koymaktır. Özellikle Basil Bernstein’ın farklı sosyal sınıflara mensup çocukların sahip oldukları sosyo-ekonomik ve kültürel özelliklerinden dolayı farklı dil kodlarına sahip oldukları görüşü çalışmamızın ana eksenini oluşturmaktadır. Araştırma, 2012–2013 Öğretim Y

  2. Gitelman syndrome

    Directory of Open Access Journals (Sweden)

    Levtchenko Elena N

    2008-07-01

    Full Text Available Abstract Gitelman syndrome (GS, also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Transient periods of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever are often seen in GS patients. Paresthesias, especially in the face, frequently occur. Remarkably, some patients are completely asymptomatic except for the appearance at adult age of chondrocalcinosis that causes swelling, local heat, and tenderness over the affected joints. Blood pressure is lower than that in the general population. Sudden cardiac arrest has been reported occasionally. In general, growth is normal but can be delayed in those GS patients with severe hypokalemia and hypomagnesemia. GS is transmitted as an autosomal recessive trait. Mutations in the solute carrier family12, member 3 gene, SLC12A3, which encodes the thiazide-sensitive NaCl cotransporter (NCC, are found in the majority of GS patients. At present, more than 140 different NCC mutations throughout the whole protein have been identified. In a small minority of GS patients, mutations in the CLCNKB gene, encoding the chloride channel ClC-Kb have been identified. Diagnosis is based on the clinical symptoms and biochemical abnormalities (hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. Bartter syndrome (especially type III is the most important genetic disorder to consider in the differential diagnosis of GS. Genetic counseling is important. Antenatal diagnosis for GS

  3. Rare case of nephrotic syndrome: Schimke syndrome

    Directory of Open Access Journals (Sweden)

    Anna Kelly Krislane de Vasconcelos Pedrosa

    Full Text Available Abstract 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.

  4. Angelman syndrome.

    Science.gov (United States)

    Kyllerman, Mårten

    2013-01-01

    Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance. Occurrence has been calculated at 1:20000 to 1:12000 constituting about 6% of all children with severe mental retardation and epilepsy. The physical "prototype" includes microcephaly with flat neck, fair skin and hair, wide-spaced teeth, and open mouth with tongue protrusion. Epilepsy is characterized by atypical absences, erratic myoclonus, and occasional tonic-clonic seizures. EEG demonstrates high-amplitude 2-3Hz delta activity with spike and slow-wave discharges and sleep-activated generalized epileptiform discharges. Sodium valproate, benzodiazepines, and priacetam are frequently used and effective. Development is generally slow, the majority attaining independent walking in the first 2.5-6 years. Vocabulary is limited to a few single words with superior speech and object apprehension. The condition is due to a lack of expression of the UBE3A gene on chromosome 15q. Maternal deletions of 15q11-13 produce the most pronounced phenotype (65-70% of probands), uniparental disomy and imprinting center mutations (10%), and UBE3A point mutations (11%) produce milder phenotypes. Copyright © 2013 Elsevier B.V. All rights reserved.

  5. Angelman Syndrome.

    Science.gov (United States)

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

    2015-07-01

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

  6. Premenstrual Syndrome (PMS) FAQ

    Science.gov (United States)

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

  7. Brain Fag Syndrome

    African Journals Online (AJOL)

    syndrome. BFS is a tetrad of somatic complaints; cognitive impairments; sleep related complaints; and other somatic impairments. ..... BFS is a history told over time and through space. Divisions ..... Social origins of the brain fag syndrome.

  8. Milk-alkali syndrome

    Science.gov (United States)

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

  9. Kleine-Levin Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  10. Locked-In Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  11. Holmes-Adie Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  12. Central Cord Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  13. Lennox-Gastaut Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  14. What Is Marfan Syndrome?

    Science.gov (United States)

    ... 11:11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to- ... Being Done on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts ...

  15. Post-Concussion Syndrome

    Science.gov (United States)

    Post-concussion syndrome Overview By Mayo Clinic Staff Post-concussion syndrome is a complex disorder in which various symptoms — ... sometimes months after the injury that caused the concussion. Concussion is a mild traumatic brain injury that ...

  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. Trisomy 13 (Patau Syndrome)

    National Research Council Canada - National Science Library

    Masoud Poureisa

    2009-01-01

    "nDescription and Definition: Synonym: patau syndrome with an incidence of 1 in 5000 births, this syndrome is characterized by multiple congenital abnormalities involving virtually every organ system...

  18. Restless Legs Syndrome Foundation

    Science.gov (United States)

    ... Into Relieved Are you experiencing symptoms linked to restless legs syndrome (RLS)? Find tools and support to help get ... I couldn’t sleep. Fortunately, I found the Restless Legs Syndrome Foundation and learned what type of doctor to ...

  19. Dubin-Johnson syndrome

    Science.gov (United States)

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

  20. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.

    2008-01-01

    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management consist

  1. Learning about Klinefelter Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Klinefelter Syndrome What is Klinefelter syndrome? What ... they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in ...

  2. Learning about Velocardiofacial Syndrome

    Science.gov (United States)

    ... Definitions for genetic terms used on this page. Learning About Velocardiofacial Syndrome What is velocardiofacial syndrome (VCFS)? ... are formed or work; a characteristic facial appearance; learning problems; and speech and feeding problems. The name ...

  3. Diabetic hyperglycemic hyperosmolar syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000304.htm Diabetic hyperglycemic hyperosmolar syndrome To use the sharing features on this page, please enable JavaScript. Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of ...

  4. Ectopic Cushing syndrome

    Science.gov (United States)

    ... Cushing syndrome in which a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone (ACTH). Causes Cushing syndrome is a disorder that occurs when your body has a higher ...

  5. Organic brain syndrome

    Science.gov (United States)

    ... state Intoxication from drug or alcohol use Wernicke-Korsakoff syndrome (a long-term effect of excessive alcohol consumption ... Substance use Transient ischemic attack Vascular dementia Wernicke-Korsakoff syndrome Review Date 2/27/2016 Updated by: Amit ...

  6. Gorlin‑Goltz Syndrome

    African Journals Online (AJOL)

    Annals of Medical and Health Sciences Research | Mar-Apr 2014 | Vol 4 | Issue 2 | ... Oral Medicine and Radiology, College of Dental Sciences and Reasearch, Bopal, Ahmeadabad, .... or GGS, Oro-facial-digital syndrome, Noonan syndrome,.

  7. Tics and Tourette Syndrome

    Science.gov (United States)

    ... Children who have Tourette syndrome may also have learning disabilities or obsessive-compulsive disorder (thoughts or behaviors that ... my child who has tourette syndrome, involuntary movement, learning disabilities, learning disability, movement disorders, obsessive thoughts, obsessive-compulsive ...

  8. Sheehan's Syndrome (Postpartum Hypopituitarism)

    Science.gov (United States)

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

  9. Barth Syndrome (BTHS)

    Science.gov (United States)

    ... may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but ... may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but ...

  10. Recurrent Goodpasture's syndrome.

    OpenAIRE

    Burke, B. R.; Bear, R. A.

    1983-01-01

    Goodpasture's syndrome was diagnosed in a 17-year-old boy with glomerulonephritis and hemoptysis. He was successfully treated with cyclophosphamide, prednisone and courses of plasmapheresis. The syndrome recurred 3 1/2 years later and was again successfully treated.

  11. What Is Down Syndrome?

    Science.gov (United States)

    ... Down syndrome are chorionic villus sampling (CVS) and amniocentesis. These procedures, which carry up to a 1% ... are nearly 100% accurate in diagnosing Down syndrome. Amniocentesis is usually performed in the second trimester between ...

  12. Genetics Home Reference: otopalatodigital syndrome type 1

    Science.gov (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type I Other Diagnosis and ... syndrome faciopalatoosseous syndrome FPO OPD syndrome, type 1 oto-palato-digital syndrome, type I Taybi syndrome Related ...

  13. Genetics Home Reference: otopalatodigital syndrome type 2

    Science.gov (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type II Other Diagnosis and ... syndrome faciopalatoosseous syndrome FPO OPD syndrome, type 2 oto-palato-digital syndrome, type II Taybi syndrome Related ...

  14. Ogilvies syndrom efter sectio

    DEFF Research Database (Denmark)

    Schjoldager, B T; Sørensen, Jette Led; Svaerke, T

    2001-01-01

    Ogilvie's syndrome, acute pseudo-obstruction of the colon, can lead to perforation of the caecum and death. The syndrome is not well known and diagnosis can be difficult to make in time.......Ogilvie's syndrome, acute pseudo-obstruction of the colon, can lead to perforation of the caecum and death. The syndrome is not well known and diagnosis can be difficult to make in time....

  15. Hyperventilation and exhaustion syndrome

    OpenAIRE

    Ristiniemi, Heli; Perski, Aleksander; Lyskov, Eugene; Emtner, Margareta

    2014-01-01

    Chronic stress is among the most common diagnoses in Sweden, most commonly in the form of exhaustion syndrome (ICD-10 classification - F43.8). The majority of patients with this syndrome also have disturbed breathing (hyperventilation). The aim of this study was to investigate the association between hyperventilation and exhaustion syndrome. Thirty patients with exhaustion syndrome and 14 healthy subjects were evaluated with the Nijmegen Symptom Questionnaire (NQ). The participants completed ...

  16. Anisocoria and Horner's Syndrome

    Science.gov (United States)

    ... Asked Questions Español Condiciones Chinese Conditions Anisocoria and Horner's Syndrome En Español Read in Chinese What is ... the affected eye. What are the signs of Horner’s syndrome? In Horner’s syndrome, the pupil in the ...

  17. Cushing's Syndrome in Children

    Science.gov (United States)

    Cushing’s Syndrome in Children by Meg Keil, MS, CRNP How is Cushing’s syndrome (CS) in children different than in adults? · CS ... conditions may cause what is known as pseudo-Cushing’s syndrome. Although this is more common in adults, it ...

  18. Williams Syndrome and Happiness.

    Science.gov (United States)

    Levine, Karen; Wharton, Robert

    2000-01-01

    Discussion of Williams syndrome, a genetic disorder with a variety of medical and developmental features, focuses on frequent outward expression of happiness. Analysis of the unique expression of happiness in individuals with Williams syndrome is followed by discussion of this happiness in the context of other dimensions of the syndrome,…

  19. Familial Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Y Samatha

    2010-01-01

    Full Text Available Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  20. 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.

  1. Down syndrome: An overview

    Directory of Open Access Journals (Sweden)

    Samuel Otabor Wajuihian

    2016-03-01

    Full Text Available Optometrists as primary eye care providers examine patients from diverse populations, including those with special needs such as Down syndrome. Down syndrome is a chromosomal abnormality associated with several health conditions including vision anomalies such as refractive, accommodative and vergence anomalies, as well as ocular pathology. In this article, a narrative review of Down syndrome including the background, historical perspective, aetiology and genetic mechanisms, types, epidemiology, as well as the physical and medical profile of Down syndrome is presented.Keywords: Down syndrome review; Trisomy 21; historical perspective; etiology; types and epidemiology; features; Optometrist

  2. 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.

  3. [Postpartum endocrine syndrome].

    Science.gov (United States)

    Ducarme, G; Châtel, P; Luton, D

    2008-05-01

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

  4. Behcet's Syndrome.

    Science.gov (United States)

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

    2012-12-03

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

  5. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

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

  6. [Epidemiology of Asperger's syndrome].

    Science.gov (United States)

    Suzuki, Yukiko; Saito, Kazuhiko

    2007-03-01

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

  7. 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.

  8. Down Syndrome Myths and Truths

    Science.gov (United States)

    ... leading human rights organization for all individuals with Down syndrome. National Down Syndrome Society 8 E 41st Street, 8th Floor New ... New York 10017 800-221-4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & ...

  9. Do you know this syndrome? Leopard syndrome*

    Science.gov (United States)

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

    2017-01-01

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

  10. Basal cell nevus syndrome or Gorlin syndrome.

    Science.gov (United States)

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

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

  11. 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.

  12. Metabolic syndrome and migraine

    Directory of Open Access Journals (Sweden)

    Amit eSachdev

    2012-11-01

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

  13. SAPHO syndrome associated spondylitis.

    Science.gov (United States)

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

    2008-10-01

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

  14. Fat embolism syndrome

    OpenAIRE

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

    1997-01-01

    Fat embolism syndrome, an important contributor to the development of acute respiratory distress syndrome, has been associated with both traumatic and nontraumatic disorders. Fat embolization after long bone trauma is probably common as a subclinical event. Fat emboli can deform and pass through the lungs, resulting in systemic embolization, most commonly to the brain and kidneys. The diagnosis of fat embolism syndrome is based on the patient’s history, supported by clinical signs of pulmonar...

  15. Palmaris brevis spasm syndrome.

    OpenAIRE

    SERRATRICE, G.; Azulay, J.P.; Serratrice, J; Pouget, J

    1995-01-01

    Palmaris brevis spasm syndrome is a rare and benign condition of localised muscular hyperactivity. In five men, the hypothenar eminence underwent spontaneous, irregular, tonic contractions of the palmaris brevis muscle. An EMG showed spontaneous high frequency discharges of normal motor units, without evidence of neuropathy or of nerve compression. This syndrome resembles other restricted muscle hyperactivity syndromes although there are some differences. Curiously, the palmaris brevis muscle...

  16. Streptococcal toxic shock syndrome

    OpenAIRE

    Gvozdenović Ljiljana; Pasternak Janko; Milovanović Stanislav; Ivanov Dejan; Milić Saša

    2010-01-01

    Introduction. Streptococcal toxic shock syndrome is now recognized as a toxin-mediated, multisystem illness. It is characterized by an early onset of shock with multiorgan failure and continues to be associated with high morbidity and mortality, caused by group A Streptococcus pyogenes. The symptoms for staphylococcal and streptococcal toxic shock syndrome are similar. Streptococcal toxic shock syndrome was not well described until 1993, when children who had suffered from varicella pre...

  17. Post cardiac injury syndrome

    DEFF Research Database (Denmark)

    Nielsen, S L; Nielsen, F E

    1991-01-01

    The post-pericardiotomy syndrome is a symptom complex which is similar in many respects to the post-myocardial infarction syndrome and these are summarized under the diagnosis of the Post Cardiac Injury Syndrome (PCIS). This condition, which is observed most frequently after open heart surgery, i...... on the coronary vessels, with cardiac tamponade and chronic pericardial exudate. In the lighter cases, PCIS may be treated with NSAID and, in the more severe cases, with systemic glucocorticoid which has a prompt effect....

  18. The carpenter syndrome phenotype.

    Science.gov (United States)

    Tarhan, Erkan; Oğuz, Haldun; Safak, Mustafa Asim; Samim, Erdal

    2004-03-01

    Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities. We report a 6 years old boy presenting as a union of these malformations and also having bilateral sensorineural hearing loss. Auditory disturbances are not common among Carpenter syndrome patients. According to our knowledge, this is the first Carpenter syndrome case whose hearing loss is demonstrated by auditory brainstem response (ABR) test.

  19. Lamotrigine induced DRESS syndrome

    Directory of Open Access Journals (Sweden)

    Kikkeri Narayanasetty Naveen

    2012-01-01

    Full Text Available Drug rash with eosinophilia and systemic symptoms (DRESS syndrome is a rare and life-threatening delayed drug hypersensitivity reaction characterized by skin eruption, fever, lymphadenopathies, and visceral involvement. Here, we are presenting a 12 year old boy, who developed rare but life threatening DRESS syndrome due to Lamotrigine. Early detection and treatment led to his rapid recovery. This case is presented to highlight the importance of early detection of rare fatal syndrome.

  20. Orofacial syndromes: A review

    Directory of Open Access Journals (Sweden)

    N Shyam Sunder

    2011-01-01

    Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

  1. Down syndrome: An overview

    OpenAIRE

    Samuel Otabor Wajuihian

    2016-01-01

    Optometrists as primary eye care providers examine patients from diverse populations, including those with special needs such as Down syndrome. Down syndrome is a chromosomal abnormality associated with several health conditions including vision anomalies such as refractive, accommodative and vergence anomalies, as well as ocular pathology. In this article, a narrative review of Down syndrome including the background, historical perspective, aetiology and genetic mechanisms, types, epidemiolo...

  2. [Excretory azoospermia: Young's syndrome].

    Science.gov (United States)

    Arrufat, J M; Cervelló, E; Albella, F

    1980-01-01

    The authors present a case of excretory azoospermia, whose deferentovesiculography and surgical exploration of the epididymis were normal. The patient presented bronchio-estasis and sinusitis as a result of which he was diagnosed as suffering from Young's syndrome. The authors make a review of the current state of the problem stressing the differences between Young's syndrome and immobile cilia syndrome described by Eliasson and colls.

  3. [Chilaidity syndrome. Case report].

    Science.gov (United States)

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

    2012-01-01

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

  4. Alport's Syndrome in Pregnancy

    OpenAIRE

    Suchita Mehta; Chadi Saifan; Marie Abdellah; Rita Choueiry; Rabih Nasr; Suzanne El-Sayegh

    2013-01-01

    Background. Alport's syndrome is an X-linked hereditary disorder affecting the glomerular basement membrane associated with ocular and hearing defects. In women, the disease is much less severe compared to that in men. However, women with Alport's syndrome can have an accelerated form of their disease during pregnancy with worsening of kidney function and can also develop preeclampsia. There are only four described cases of Alport's syndrome in pregnancy. Case Presentation. 20-year-old woman ...

  5. SAPHO syndrome associated spondylitis

    OpenAIRE

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

    2008-01-01

    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship ...

  6. Genetics Home Reference: Down syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Down syndrome Down syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Down syndrome is a chromosomal condition that is associated with ...

  7. Mental Health Issues & Down Syndrome

    Science.gov (United States)

    ... Mental Health Issues & Down Syndrome Mental Health Issues & Down Syndrome What Are the Major Mental Health Related Concerns in Persons With Down Syndrome? At least half of all children and adults ...

  8. Genetics Home Reference: Horner syndrome

    Science.gov (United States)

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

  9. Toxic Shock Syndrome (For Teens)

    Science.gov (United States)

    ... Surgery? A Week of Healthy Breakfasts Shyness Toxic Shock Syndrome KidsHealth > For Teens > Toxic Shock Syndrome Print ... it, then take some precautions. What Is Toxic Shock Syndrome? If you're a girl who's had ...

  10. Genetics Home Reference: Arts syndrome

    Science.gov (United States)

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

  11. Genetics Home Reference: Laron syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Laron syndrome Laron syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Laron syndrome is a rare form of short stature that ...

  12. Genetics Home Reference: Asperger syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Asperger syndrome Asperger syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Asperger syndrome is a disorder on the autism spectrum, which ...

  13. 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 (7 links) ...

  14. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... Cryopyrin-Associated Autoinflammatory Syndrome (CAPS) (Juvenile) Dermatomyositis (Juvenile) Familial Mediterranean Fever (Juvenile) Fibromyalgia Giant Cell Arteritis Glucocorticoid-induced Osteoperosis ...

  15. Trauma induced eagle syndrome.

    Science.gov (United States)

    Koivumäki, A; Marinescu-Gava, M; Järnstedt, J; Sándor, G K; Wolff, J

    2012-03-01

    Eagle syndrome is characterized by secondary calcification and elongation of the styloid process. Eagle syndrome is often associated with sharp, intermittent pain along the path of the glossopharyngeal nerve located in the hypopharynx and at the base of the tongue. In some cases, the stylohyoid apparatus can compress the internal and/or the external carotid arteries and their perivascular sympathetic fibres, resulting in a persistent pain radiating throughout the carotid territory. The pathogenesis of the syndrome is not understood. The authors report the case of a 52-year-old woman with post traumatic Eagle syndrome-like pain and pseudoarthrosis of the stylohyoid ligament.

  16. [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.

  17. Learning about Duane Syndrome

    Science.gov (United States)

    ... Medicine for Patients and the Public Specific Genetic Disorders Learning About Duane Syndrome Specific Genetic Disorders Specific Genetic Disorders Learning About Prostate Cancer See Also: Talking Glossary of ...

  18. Learning about Marfan Syndrome

    Science.gov (United States)

    ... Medicine for Patients and the Public Specific Genetic Disorders Learning About Marfan Syndrome Specific Genetic Disorders Specific Genetic Disorders Learning About Prostate Cancer See Also: Talking Glossary of ...

  19. Laugier-Hunziker syndrome.

    Science.gov (United States)

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

    2012-05-01

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

  20. Rabson-mendenhall syndrome

    National Research Council Canada - National Science Library

    Hassan, Iffat; Altaf, Hinah; Yaseen, Atiya

    2014-01-01

    Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial...

  1. [Refeeding syndrome. A review].

    Science.gov (United States)

    Temprano Ferreras, J L; Bretón Lesmes, I; de la Cuerda Compés, C; Camblor Alvarez, M; Zugasti Murillo, A; García Peris, P

    2005-02-01

    Refeeding syndrome is a complex clinical picture that encompass all those alterations that can occur as a consequence of the nutritional support (oral, enteral or parenteral) in malnourished patients. Refeeding syndrome is classically characterized by neurological alterations, respiratory symptoms, cardiac arrhythmias and heart failure few days after beginning of refeeding, with life-threatening outcome. Its pathogenesis includes alterations in the corporal fluids, and in some electrolytes, minerals and vitamins. In this article a review of refeeding syndrome pathogenesis and clinical manifestations is carried out, with a final series of recommendations for lowering the risk of this syndrome and for facilitate the early diagnosis and the treatment.

  2. Compartment Syndrome in Children.

    Science.gov (United States)

    Hosseinzadeh, Pooya; Hayes, Christopher B

    2016-07-01

    Compartment syndrome in children can present differently than adults. Increased analgesic need should be considered the first sign of evolving compartment syndrome in children. Children with supracondylar humerus fractures, floating elbow injuries, operatively treated forearm fractures, and tibia fractures are at high risk for developing compartment syndrome. Elbow flexion beyond 90° in supracondylar humerus fractures and closed treatment of forearm fractures in floating elbow injuries are associated with increased risk of compartment syndrome. Prompt diagnosis and treatment with fasciotomy in children result in excellent long-term outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Isolated pulmonary Goodpasture syndrome.

    Science.gov (United States)

    Harrity, P; Gilbert-Barness, E; Cabalka, A; Hong, R; Zimmerman, J

    1991-01-01

    The case of a 13-year-old girl with Goodpasture syndrome is reported. The presentation at this age with only pulmonary hemorrhage is unusual among Goodpasture syndrome patients. The case illustrates well the diagnostic difficulties in Goodpasture syndrome. The choices of treatment modalities available for this disease and the results and risks of such treatment options are reviewed. A discussion and classification of diffuse pulmonary hemorrhage is presented. The case emphasizes that Goodpasture syndrome should be considered in the differential diagnosis of diffuse pulmonary hemorrhage in spite of a lack of renal abnormalities and that serum anti-glomerular basement membrane antibody testing can be of great help in confirming the diagnosis.

  4. Learning about Cri du Chat Syndrome

    Science.gov (United States)

    ... Learning About Prostate Cancer Learning About Cri du Chat Syndrome What is cri du chat syndrome? What ... cri du chat syndrome What is cri du chat syndrome? Cri du chat syndrome - also known as ...

  5. Genetics Home Reference: isolated Duane retraction syndrome

    Science.gov (United States)

    ... for This Condition co-contractive retraction syndrome Duane anomaly, isolated Duane retraction syndrome Duane syndrome Duane's syndrome ... of a gene for Duane retraction syndrome to chromosome 2q31. Am J Hum Genet. 1999 Dec;65( ...

  6. Sjögren's Syndrome

    Science.gov (United States)

    ... Pharyngitis, Adenitis Syndrome (Juvenile) Polymyalgia Rheumatica Psoriatic Arthritis Raynaud's Phenomenon Reactive Arthritis Rheumatoid Arthritis Scleroderma Sjogren's Syndrome Spinal Stenosis Spondyloarthritis Systemic Lupus Erythematosus (Juvenile) Takayasu's ...

  7. 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.

  8. Central Pain Syndrome

    Science.gov (United States)

    ... or hands. Central pain syndrome often begins shortly after the causative injury or damage, but may be delayed by months or even years, especially if it is related to post-stroke pain. × Definition Central pain syndrome is a neurological ...

  9. Post-Polio Syndrome

    Science.gov (United States)

    ... or fatigue, this may overwork already stressed-out motor neurons and increase your risk of post-polio syndrome. Generally, post-polio syndrome is rarely life-threatening, but severe muscle weakness can lead to complications: Falls. Weakness in your leg muscles makes it ...

  10. SHORT RIB POLYDACTYLY SYNDROME

    Directory of Open Access Journals (Sweden)

    Z Moinfar

    2007-09-01

    Full Text Available Short rib polydactyly syndrome (SRPS is a very rare congenital anomaly that is classified into four subtypes. It is an autosomal recessive inherited disease. We report a case of this syndrome without a previous family history of congenital defects.

  11. Yellow nail syndrome

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant

    2007-01-01

    Full Text Available A case of yellow nail syndrome is described in a forty year old male patient who presented with classical triad of this syndrome i.e. deformed yellow nails, lymph-edema and chronic recurrent pleural effusion. The practical problems in the di-agnosis are also briefly discussed with emphasis on awareness of this rare clinical entity.

  12. Redefining syndromic surveillance.

    Science.gov (United States)

    Katz, Rebecca; May, Larissa; Baker, Julia; Test, Elisa

    2011-12-01

    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. Copyright © 2011 Ministry of Health, Saudi Arabia. Published by Elsevier Ltd. All rights reserved.

  13. Rett Syndrome Fact Sheet

    Science.gov (United States)

    ... gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ... the difficulties with symptoms, many individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, ...

  14. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen

    1986-01-01

    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous sys

  15. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2007-01-01

    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  16. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L

    2003-01-01

    Full Text Available Rothmund-Thomson syndrome is a rare geno-photodermatosis of children. Poikilodermatous cutaneous changes, growth retardation, juvenile cataract and high incidence of malignancy are its classical features. A Thomson type of Rothmund-Thomson syndrome with characteristic poikiloderma congenitale, growth retardation, absence of juvenile cataract and parental non-consanguinity is described in an 8 year old Indian girl.

  17. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts

    2014-07-07

    This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus—MERS-CoV.  Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 7/7/2014.

  18. Moebius Syndrome Foundation

    Science.gov (United States)

    ... to Moebius syndrome Who we are Mission and History Foundation leadership Scientific advisory board Press room Our stories Financial ... to Moebius syndrome » Who we are » Mission and History » Foundation leadership » Scientific advisory board » Press room » Our stories » Financial ...

  19. Juvenile polyposis syndrome

    NARCIS (Netherlands)

    L.A.A. Brosens; D. Langeveld; W.A. van Hattem; F.M. Giardiello; G.J.A. Offerhaus

    2011-01-01

    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a

  20. The Aarskog syndrome.

    Science.gov (United States)

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

    1978-06-09

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

  1. Managing Sjogren's Syndrome.

    Science.gov (United States)

    Grossman, Sheila; Tagliavini, Lynda B

    2015-10-01

    There are approximately 4 million Americans diagnosed with Sjogren's Syndrome. This article discusses the epidemiology, pathophysiology, diagnostics, and implications for home care clinicians who may encounter patients with this syndrome. Chronic pain is discussed as well as interventions to manage symptoms such fatigue, dry eyes mouth and skin.

  2. Lynch Syndrome revision.

    Directory of Open Access Journals (Sweden)

    Sila Castellón Mortera

    2013-07-01

    Full Text Available The literature regarding colon`s adenocarcinoma hereditary no poliposico or Lynch Syndrome is reviewed. The clinical characteristics, genetics and histologycal of colon´s adenocarcinoma hereditary, no poliposico are pointed out, so as the updated criteria approved in Amsterdam, for the diagnostic of patients with this Syndrome. The therapeutics is updated.

  3. Korsakoff's syndrome is preventable

    NARCIS (Netherlands)

    Oudman, Erik; Wijnia, Jan W.

    2014-01-01

    Wernicke-Korsakoff syndrome (WKS) is a life-threatening neuropsychiatric disorder caused by thiamine (vitamin B1) deficiency. Wernicke-Korsakoff syndrome is associated with mammillary body edema and small vessel ischemia. Many patients who develop WKS have a history of serious alcoholism and self-ne

  4. Turner Syndrome (For Teens)

    Science.gov (United States)

    ... Although girls with Turner syndrome may have certain learning difficulties, most can attend regular school and classes, and usually: write well learn well by hearing memorize information as well as others develop good language skills If you have Turner syndrome, you know ...

  5. Epidemiology of Down Syndrome

    Science.gov (United States)

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

    2007-01-01

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

  6. Trigeminalt trofisk syndrom--

    DEFF Research Database (Denmark)

    Kjaerskov, Mette Wanscher; Bygum, Anette

    2009-01-01

    Trigeminal trophic syndrome (TTS) is a rare but well-described syndrome consisting of the triad: paraesthesia, anaesthesia and crescent-shaped ulceration of the ala nasi. We report a case of a 62-year-old woman presenting with TTS after operative excision of an acusticus neurinoma. She attended s...

  7. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen

    1986-01-01

    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous

  8. Rabson-mendenhall syndrome

    OpenAIRE

    Kumar Sarita; Tullu Milind; Muranjan Mamta; Kamat Jaishree

    2005-01-01

    Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. We describe a six-month-old female child with physical features suggestive of the Rabson-Mendenhall syndrome. The child also had medullary nephrocalcinosis.

  9. Kleine Levin Syndrome

    Directory of Open Access Journals (Sweden)

    Abdul Wahid Khan, Zia Ud Din, Abdul Salam

    2002-07-01

    Full Text Available A case of Kleine Levin Syndrome is presented. Episodic course with spontaneous remission of eachepisode and characteristic features of hypersomnia, hyperphagia, disinhibited behavior. affective featureslike ilTitability and cognitive disturbance made the diagnosis of Kleine Levin syndrome 111 ourpatient.

  10. Proteus syndrome in adulthood

    NARCIS (Netherlands)

    Muller, E; Lichtendahl, DHE; Hofer, SOP

    2002-01-01

    Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having Klippel-Tren

  11. Ehlers-Danlos' syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense

    2016-01-01

    Ehlers-Danlos syndrome Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise...

  12. Androgen insensitivity syndrome

    Science.gov (United States)

    ... syndrome URL of this page: //medlineplus.gov/ency/article/001180.htm Androgen insensitivity syndrome To use the ... a condition in which the opening of the urethra is on the underside of the penis, instead of ... they can develop cancer, just like any undescended testicle. Estrogen replacement is ...

  13. 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.

  14. [Orbitofrontal syndrome in psychiatry].

    Science.gov (United States)

    Murad, A

    1999-01-01

    Orbitofrontal syndrome is a variant of frontal lobe syndrome in which behavioural disturbances are prevailing. It results from bilateral lesions of the orbitofrontal cortex and the medial face of frontal lobe. Patients present disorganized hyperactivity. They are distractable, impulsive, euphoric and unable to abide by social rules. They often have instinctive disinhibition (hypersexuality, hyperphagia and urinary behaviour disorders). In spite of severe behavioural disturbances cognitive functions are often intact so that orbitofrontal syndrome may be confounded with two psychiatric disorders: mania (or hypomania) and antisocial personality disorder. In this article we present a case report of orbitofrontal syndrome which was initially misdiagnosed as mania. Clinical features and possible modes of presentation of this syndrome are discussed. It is suggested that serotonin reuptake inhibitors may be of some use in this disorder.

  15. [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.

  16. [Antiphospholipid syndrome and pregnancy].

    Science.gov (United States)

    Gadó, Klára; Domján, Gyula

    2012-08-05

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

  17. Eisenmenger Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

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

  18. Familial pituitary tumor syndromes.

    Science.gov (United States)

    Elston, Marianne S; McDonald, Kerrie L; Clifton-Bligh, Roderick J; Robinson, Bruce G

    2009-08-01

    The vast majority of pituitary tumors are benign and occur sporadically; however, they can still result in significant morbidity and even premature mortality through mass effects and hormone dysfunction. The etiology of sporadic tumors is still poorly understood; by contrast, advances have been made in our understanding of familial pituitary adenoma syndromes in the past decade. Currently, four genes are known to be associated with familial pituitary tumor syndromes: MEN1, CDKN1B, PRKAR1A and AIP. The first three genes are associated with a variety of extrapituitary pathologies, for example, primary hyperparathyroidism with multiple endocrine neoplasia type 1, which might aid identification of these syndromes. By contrast, AIP mutations seem to occur in the setting of isolated familial pituitary adenomas, particularly of the growth-hormone-secreting subtype. Awareness and identification of familial pituitary tumor syndromes is important because of potential associated pathologies and important implications for family members. Here, we review the current knowledge of familial pituitary tumor syndromes.

  19. Eagle syndrome: case report.

    Science.gov (United States)

    Uludağ, İrem Fatma; Öcek, Levent; Zorlu, Yaşar; Uludağ, Burhanettin

    2013-01-01

    Eagle syndrome is an aggregate of symptoms caused by an elongated styloid process, most frequently resulting in headache, facial pain, dysphagia and sensation of foreign body in throat. The proper diagnosis is not difficult with clinical history, physical examination and radiographic assessment if there is a sufficient degree of suspicion. The treatment is very effective. We report here a typical case of Eagle syndrome which was misdiagnosed as trigeminal neuralgia for many years and was treated with carbamazepine. We aim to point the place of Eagle syndrome in the differential diagnosis of facial pain. We also re-emphasize the usefulness of the three-dimensional computed tomography in the diagnosis of Eagle syndrome. Even though Eagle syndrome is a rare condition, in cases of facial pain refractory to treatment or unexplained complaints of the head and neck region, it should be considered in the differential diagnosis as it has therapeutic consequences.

  20. [Schizophrenia or Asperger syndrome?].

    Science.gov (United States)

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

    2008-09-01

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

  1. Gorlin-goltz syndrome.

    Science.gov (United States)

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

    2014-03-01

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

  2. Atraumatic painless compartment syndrome.

    Science.gov (United States)

    Blanchard, Scott; Griffin, Gregory D; Simon, Erin L

    2013-12-01

    Acute compartment syndrome is a time-sensitive diagnosis and surgical emergency because it poses a threat to life and the limbs. It is defined by Matsen et al (Surg Gynecol Obstet. 1978;147(6):943–949) as "a condition in which increased pressure within a limited space compromises the circulation and function of the tissues within that space." The most common cause of compartment syndrome is traumatic injury. A variety of other conditions such as vascular injuries, bleeding disorders, thrombosis, fasciitis, gas gangrene, rhabdomyolysis, prolonged limb compression, cellulitis, and nephrotic syndrome may also cause compartment syndrome. Patients who are elderly, have preexisting nerve damage, or have psychopathology may have an atypical presentation. This case highlights the first report of a 75-year-old woman who developed painless bilateral compartment syndrome in the absence of traumatic injury.

  3. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    , 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral...... disorders during childhood. The aetiology and treatment of mental and behavioral disorders among children with Usher syndrome are discussed. Children with Usher syndrome and their parents may need clinical support during early childhood to prevent development of mental and behavioral disorders.......Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral...

  4. [Asthenic syndrome in patients with burnout syndrome].

    Science.gov (United States)

    Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

    2013-01-01

    The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

  5. Syndrome in question: Gorlin-Goltz syndrome*

    Science.gov (United States)

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

    2016-01-01

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

  6. Toxic Shock Syndrome (For Parents)

    Science.gov (United States)

    ... Feeding Your 1- to 2-Year-Old Toxic Shock Syndrome KidsHealth > For Parents > Toxic Shock Syndrome Print ... en español Síndrome de shock tóxico About Toxic Shock Syndrome Toxic shock syndrome (TSS) is a serious ...

  7. RHEUMATIC MASKS OF PARANEOPLASTIC SYNDROME

    Directory of Open Access Journals (Sweden)

    A. P. Rebrov

    2001-01-01

    Full Text Available Summary Analysis of the prevalence and clinical manifestations of paraneoplastic syndrome in 173 patients with malignant tumors admitted in departments internal medicine of Regional Clinical hospital was done. Paraneoplastic syndromes was found in 13 patients (7% and was characterized by the following rheumatic manifestations: articular syndrome, dermato- and polymyositis, lupus-like syndrome.

  8. Musculoskeletal and rheumatological disorders in HIV infection: Experience in a tertiary referral center

    Directory of Open Access Journals (Sweden)

    Alakes Kumar Kole

    2013-01-01

    Full Text Available Background: Musculoskeletal involvement in human immunodeficiency virus (HIV infected patients are important disease manifestations, responsible for increased morbidity and also decreased quality of life. Objectives: To study the spectrum of different musculoskeletal involvement in HIV infected patients and its impact on quality of life. Patients and Methods: Three hundred (n = 300 HIV-1 reactive patients were evaluated in respect to different musculoskeletal involvement including the quality of life from January 2010 to January 2011. Results: Male to female ratio was 11:1 with a mean age of 35 (±6.4 years and mean duration of the disease was 3 (±1.54 years. Majority of cases were truck drivers, motel workers, and jewelry workers. Musculoskeletal disorders were observed in a total of 190 cases (63.33%. The spectrum of musculoskeletal involvement was: Body ache in 140 (46.7%, arthralgia in 80 (26.7%, mechanical low back pain in 25 (8.3%, osteoporosis in 20 (6.7%, painful articular syndrome in 10 (3.3%, hypertrophic osteoarthropathy in two (0.7%, pyomyositis in two (0.7%, osteomyelitis in one (0.3%, and avascular bone necrosis in one patient (0.3%. Rheumatologic disorders associated were: Reactive arthritis in seven (2.3%, fibromyalgia in four (1.3%, septic arthritis in three (1%, acute gout in three (1%, spondyloarthropathy in two (0.7%, rheumatoid arthritis in two (0.7%, dermatomyositis in one (0.3%, and systemic lupus erythematosus (SLE in one patient (0.3%. But HIV associated arthritis and diffuse infiltrative lymphocytosis syndrome (DILS were not detected. Most of the patients had decreased quality of life. Conclusions: Musculoskeletal involvement was common in HIV patients causing increased morbidity, so early detection and timely intervention is essential to improve quality of life.

  9. 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.

  10. Dysmobility syndrome: current perspectives

    Science.gov (United States)

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

    2017-01-01

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

  11. Streptococcal toxic shock syndrome

    Directory of Open Access Journals (Sweden)

    Gvozdenović Ljiljana

    2010-01-01

    Full Text Available Introduction. Streptococcal toxic shock syndrome is now recognized as a toxin-mediated, multisystem illness. It is characterized by an early onset of shock with multiorgan failure and continues to be associated with high morbidity and mortality, caused by group A Streptococcus pyogenes. The symptoms for staphylococcal and streptococcal toxic shock syndrome are similar. Streptococcal toxic shock syndrome was not well described until 1993, when children who had suffered from varicella presented roughly 2-4 weeks later with a clinical syndrome highly suggestive of toxic shock syndrome. Characteristics, complications and therapy. It is characterized by a sudden onset of fever, chills, vomiting, diarrhea, muscle aches and rash. It can rapidly progress to severe and intractable hypotension and multisystem dysfunction. Almost every organ system can be involved. Complications of streptococcal toxic shock syndrome may include kidney failure, liver failure and even death. Crystalloids and inotropic agents are used to treat the hypovolemic shock aggressively, with close monitoring of the patient’s mean arterial pressure and central venous pressure. An immediate and aggressive management of hypovolemic shock is essential in streptococcal toxic shock syndrome. Targeted antibiotics are indicated; penicillin or a betalactam antibiotic is used for treating group A streptococci, and clindamycin has emerged as a key portion of the standard treatment.

  12. Vascular compression syndromes.

    Science.gov (United States)

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

    2015-11-01

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

  13. Huntington's disease phenocopy syndromes.

    Science.gov (United States)

    Wild, Edward J; Tabrizi, Sarah J

    2007-12-01

    Patients presenting with features of Huntington's disease but lacking the causative genetic expansion can be challenging diagnostically. The differential diagnosis of such Huntington's disease phenocopy syndromes has not recently been reviewed. Cohort studies have established the relative frequencies of known Huntington's disease phenocopy syndromes, whereas newly described ones have been characterized genetically, clinically, radiologically and pathologically. About 1% of suspected Huntington's disease cases emerge as phenocopy syndromes. Such syndromes are clinically important in their own right but may also shed light on the pathogenesis of Huntington's disease. Huntington's disease produces a range of clinical phenotypes, and the range of syndromes that may be responsible for Huntington's disease phenocopies is correspondingly wide. Cohort studies have established that, while the majority of phenocopy patients remain undiagnosed, in those patients where a genetic diagnosis is reached the commonest causes are SCA17, Huntington's disease-like syndrome 2 (HDL2), familial prion disease and Friedreich's ataxia. We review the features of the reported genetic causes of Huntington's disease phenocopy syndromes, including HDL1-3, SCA17, familial prion disease, spinocerebellar ataxias, dentatorubral-pallidoluysian atrophy, chorea-acanthocytosis and iron-accumulation disorders. We present an evidence-based framework for the genetic testing of Huntington's disease phenocopy cases.

  14. Assessment of coeliac disease prevalence in patients with Down syndrome in Poland - a multi-centre study.

    Science.gov (United States)

    Szaflarska-Popławska, Anna; Soroczyńska-Wrzyszcz, Anetta; Barg, Ewa; Józefczuk, Jan; Korczowski, Bartosz; Grzybowska-Chlebowczyk, Urszula; Więcek, Sabina; Cukrowska, Bożena

    2016-01-01

    The results of studies assessing whether patients with Down syndrome have increased risk of coeliac disease are contradictory. The prevalence of coeliac disease in patients with Down syndrome is estimated at a wide range between 1% to as much as 18.6%. To assess coeliac disease prevalence in patients with Down syndrome in Poland. The study enrolled 301 patients with Down syndrome from six centres in Poland (Wroclaw, Sandomierz, Rzeszow, Grudziadz, Katowice, and Bydgoszcz). We measured the concentration of anti-tissue transglutaminase IgA antibodies and anti-deamidated gliadin peptide IgG antibodies in all patients. Patients with abnormal positive (> 10 U/ml) or inconclusive (7-10 U/ml) result of the serological test were offered endoscopic biopsy of the small intestine in the main centre. In 31 (10.3%) patients increased concentrations of the investigated antibodies were found, including 19 (6.3%) patients with increased tTg-IgA concentration, 27 (8.97%) patients with increased concentration of DGP-IgG, and 15 (4.98%) patients with increased concentration of both types of antibodies. Endoscopic biopsy of the small intestine was planned for all 31 patients with abnormal results of at least one antibody test and for 2 patients with inconclusive results. One of them suffered from previously diagnosed and histologically confirmed coeliac disease. Biopsy was not conducted in 9 patients due to contraindications, lack of their consent, or introduction of a gluten-free diet by the parents before the examination. In a group of 23 patients who underwent endoscopic biopsy of the small intestine, in 15 patients the histopathological picture of the small intestinal mucosa was typical for coeliac disease, 2 patients were diagnosed with lesions of grade 1 according to the classification by Marsh-Oberhuber, 1 patient was diagnosed with focal shortening of villi and hypertrophy of the crypts with no intraepithelial lymphocytosis (remains under gastrological observation), 2 patients

  15. 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.

  16. Eagle syndrome. A narrative review

    OpenAIRE

    Heber Arbildo; Luis Gamarra; Sandra Rojas; Edward Infantes; Hernán Vásquez

    2016-01-01

    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 pro...

  17. [Refeeding syndrome: practical issues].

    Science.gov (United States)

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

    2015-10-14

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

  18. Mobious syndrome: MR findings

    Directory of Open Access Journals (Sweden)

    Maskal Revanna Srinivas

    2016-01-01

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

  19. TOLOSA HUNT SYNDROME

    Directory of Open Access Journals (Sweden)

    Padmini

    2013-03-01

    Full Text Available ABSTRACT: Tolosa-Hunt syndrome (THS is a painful ophthalmoplegi a caused by nonspecific inflammation of the cavernous sinus or superior orbi tal fissure. The syndrome consists of periorbital or hemicranial pain, combined with ipsilat eral ocular motor nerve palsies, oculosympathetic paralysis, and sensory loss in the distribution of the ophthalmic and occasionally the maxillary division of the trigemin al nerve. Although they have relapsing and remitting course, they respond promptly to systemic co rticosteroid therapy. The diagnostic eponym Tolosa-Hunt syndrome has been applied to these patients and it is this entity which forms the basis of this review

  20. Iliotibial band friction syndrome.

    Science.gov (United States)

    Lavine, Ronald

    2010-07-20

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

  1. Mirizzi’s Syndrome

    Directory of Open Access Journals (Sweden)

    Fachrull

    2015-12-01

    Full Text Available Mirizzi’s syndrome was an obstruction caused by gallstone located in gallbladder neck (or cystic duct or outside gallbladder that caused a dilatation of gallbladder and narrowing of adjacent duct, sometimes with the presence of cholecystocholedochal fistula. Mirizzi’s syndrome was a rare complication of gallbladder stone. We reported a 42 years old woman complained progressive icteric sclera. Patients also complained dark urine and light stool. During physical examination, we found an icteric sclera, pain in right upper quadrant (visual analogue scale/VAS 3, and generalized icterus (greenish yellow. Complete examination revealed a Mirizzi’s syndrome.

  2. Olfactory Reference Syndrome

    Directory of Open Access Journals (Sweden)

    Alper Evrensel

    2015-12-01

    Full Text Available Olfactory reference syndrome is a delusional disorder in which the patient persistently and falsely believes that his or her body emits a foul odor. The disease is considered a variant of somatic type of delusional disorder under the diagnostic systems. Similarities between olfactory reference syndrome and obsessive compulsive disorder have also been noted. The etiopathogenesis of the disorder has not yet been clarified. Antidepressants, antipsychotics and psychotherapy are used in the treatment of this disorder. The aim of this article was to review clinical features, neurobiology, differantial diagnosis, classification problems and treatment of olfactory reference syndrome.

  3. Klippel-Trenaunay syndrome.

    Science.gov (United States)

    Forbes, N; Walwyn, M; Rao, G; Ellis, D; Lee, M G

    2013-03-01

    Klippel-Trenaunay syndrome (KTS) is a rare congenital, vascular disorder affecting one or more limbs. The syndrome is characterized by capillary malformations, soft tissue or bony hypertrophy and varicose veins or venous malformations. We present a case of this disorder in a twelve-year old boy who had an enlarged right lower limb with varicosities. Investigations revealed extensive superficial and deep venous varices, with dilatation of the right common iliac and external iliac veins. Klippel-Trenaunay syndrome should be suspected in a child presenting with capillary haemangioma and an enlarged limb.

  4. Dostoevsky and Stendhal's syndrome.

    Science.gov (United States)

    Amâncio, Edson José

    2005-12-01

    Stendhal's syndrome occurs among travelers when they encounter a work of art of great beauty. It is characterized by an altered perception of reality, emotional disturbances, and crises of panic and anxiety with somatization. The patient profile described originally for this syndrome was of particularly sensitive individuals who were admirers of works or art: artists, poets, writers and art students, among others. The Russian writer Fyodor Mikhailovich Dostoevsky suffered from epilepsy and there is evidence that he presented the symptoms of Stendahl's syndrome while contemplating some works of art, particularly when viewing Hans Holbein's masterpiece, Dead Christ, during a visit to the museum in Basle.

  5. Hemolytic uremic syndrome.

    Science.gov (United States)

    Canpolat, Nur

    2015-06-01

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

  6. [Plummer-Vinson syndrome].

    Science.gov (United States)

    Munyó, J C; Leborgne, F; Regules, J E

    1978-01-01

    The Plummer-Vinson syndrome is very uncommon in Latin America. Four cases showing the clinical-radiological and hematological features of this syndrome are described. Three cases were treated with esophageal dilatation and Ferro therapy. The radiological evaluation may show deformities in the faringo-esophageal lumen other than the esophageal webs, such as hypertrophy of the cricopharingeal sphincter and of the retrocricoid venous plexus as well as the demonstration of esophageal webs in the patients without symptoms or signs of the Plummer Vinson Syndrome.

  7. Cantu syndrome and lymphoedema.

    Science.gov (United States)

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

    2011-01-01

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

  8. Ischemic Bilateral Opercular Syndrome

    Directory of Open Access Journals (Sweden)

    Aysel Milanlioglu

    2013-01-01

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

  9. Ischemic bilateral opercular syndrome.

    Science.gov (United States)

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

    2013-01-01

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

  10. Gardner′s Syndrome

    Directory of Open Access Journals (Sweden)

    Sapna Panjwani

    2011-01-01

    Full Text Available Gardner′s syndrome is an autosomal dominant disease and is a subtype of familial adenomatous polyposis. It is characterized by adenomatous intestinal polyps, multiple osteomas in the skull, maxillae, mandible, and multiple cutaneous and subcutaneous masses (epidermoids and desmoid. Intestinal polyps, if not treated, have 100% chance of becoming malignant. We report a case of a 25-year-old female patient with Gardner′s syndrome, with clinical manifestations including impacted supernumerary teeth, odontomes, sebaceous cyst on the scalp, and osteomas. It is important for the general dental practitioners to be aware of the clinical and radiological characteristics of Gardner′s syndrome.

  11. [Asperger's syndrome in females].

    Science.gov (United States)

    Waris, Petra; Kulomäki, Tuula; Tani, Pekka

    2011-01-01

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

  12. Coffin-Lowry syndrome

    OpenAIRE

    Martínez, Nancy; Pontificia Universidad Javeriana; Orlando, Ricardo; Pontificia Universidad Javeriana; Muñoz, Kelly José; Pontificia Universidad Javeriana

    2010-01-01

    The Coffin-Lowry syndrome is an X-linked genetic disease, characterized by multiple skeletal deformities, short stature, and developmental delay, neurological disorder, cardiac disorders, renal and other disturbances. If not detected and treated early the syndrome may cause neural sensory hearing loss and progressive spine deformation.We report the case of a Coffin-Lowry syndrome in a 10 year old boy with hypotonic clinical characteristics, short stature, neurological development delay and pr...

  13. Rabson-Mendenhall syndrome

    Directory of Open Access Journals (Sweden)

    J Gupta

    2012-01-01

    Full Text Available Rabson-Mendenhall syndrome is a rare, autosomal recessive disorder affecting insulin receptor. This disorder is characterized by insulin-resistant diabetes mellitus, hyperinsulinemia, deficiency of subcutaneous fat, acanthosis nigrican, growth retardation, coarse and senile appearance, precocious puberty, and dental prematurity, enlarged genitalia, and pineal hyperplasia. Mutations of the insulin receptor gene affecting insulin action appear to be the basic mechanism underlying this syndrome. Herein, we present a case report on Rabson-Mendenhall syndrome in a 9-year-old girl.

  14. Recurrent Miller Fisher syndrome.

    Science.gov (United States)

    Madhavan, S; Geetha; Bhargavan, P V

    2004-07-01

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

  15. Down syndrome, Turner syndrome, and Klinefelter syndrome: primary care throughout the life span.

    Science.gov (United States)

    Tyler, Carl; Edman, Jennifer C

    2004-09-01

    Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. Although each syndrome is caused by an abnormal number of chromosomes, or aneuploidy, they are distinct syndromes with learning disabilities and a predisposition toward autoimmune diseases,endocrinologic disorders, and cancers. Optimal health care requires a thorough knowledge of the unique health risks, psychoeducational needs, functional capabilities, and phenotypic variation associated with each condition. Syndrome-specific health care should complement standard preventive health care recommendations. Checklists and syndrome-specific growth grids should be used. Ongoing communication between specialists and primary care physicians and between pediatric and adult clinicians is essential. Support groups and Internet resources can benefit affected individuals and their families immensely.

  16. Distal arthrogryposis syndrome

    Directory of Open Access Journals (Sweden)

    Kulkarni K

    2008-01-01

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

  17. Atypical charles bonnet syndrome.

    Science.gov (United States)

    Arun, Priti; Jain, Rajan; Tripathi, Vaibhav

    2013-10-01

    Charles Bonnet syndrome (CBS) is not uncommon disorder. It may not present with all typical symptoms and intact insight. Here, a case of atypical CBS is reported where antipsychotics were not effective. Patient improved completely after restoration of vision.

  18. Acute Radiation Syndrome

    Science.gov (United States)

    ... Matters Information on Specific Types of Emergencies Acute Radiation Syndrome (ARS): A Fact Sheet for the Public ... is called the radiation dose. People exposed to radiation will get ARS only if: The radiation dose ...

  19. Stuttering and Tourette's Syndrome

    Science.gov (United States)

    ... Adults Teachers Speech-Language Pathologists Physicians Employers Tweet Stuttering and Tourette's Syndrome Parents of Preschoolers Parents of ... to 3 people in 1000. Just as in stuttering, TS is more common in males than females ( ...

  20. Cyclic Vomiting Syndrome

    Science.gov (United States)

    ... or the flu eating certain foods, such as chocolate or cheese, or additives such as caffeine, nitrites— ... people with cyclic vomiting syndrome. Eating, Diet, and Nutrition During the prodrome and vomiting phases of cyclic ...

  1. Cri du chat syndrome

    Science.gov (United States)

    ... is no specific treatment. Your provider will suggest ways to treat or manage the symptoms. Parents of a child with this syndrome should have genetic counseling and testing to determine if one parent has a change in chromosome 5.

  2. Treacher Collins Syndrome

    Science.gov (United States)

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

  3. 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 ( ... over a period of weeks and then stabilize. Guillain-Barre can be hard to diagnose. Possible tests include ...

  4. Nephrotic Syndrome in Adults

    Science.gov (United States)

    ... Kidney Disease Nephrotic Syndrome in Adults Related Topics Section Navigation Kidney Disease Acquired Cystic Kidney Disease Amyloidosis & ... for a Child with Kidney Disease Ectopic Kidney Medullary Sponge Kidney Kidney Dysplasia Kidney Failure Choosing a ...

  5. Fragile X Syndrome

    Science.gov (United States)

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

  6. Polycystic Ovary Syndrome

    Science.gov (United States)

    ... Staff Polycystic ovary syndrome (PCOS) is a common endocrine system disorder among women of reproductive age. Women with PCOS ... and symptoms and then rules out other possible disorders. During this ... An Endocrine Society clinical practice guideline. The Journal of Clinical ...

  7. RESTLESS LEGS SYNDROME

    Directory of Open Access Journals (Sweden)

    Dmitriy Valer'evich Artem'ev

    2009-01-01

    Full Text Available The paper describes the epidemiology, etiology, pathogenesis, clinical picture, diagnosis, differential diagnosis, and treatment of restless legs syndrome. Recommendations are given how to choose therapeutic modalities and drugs in relation to different factors.

  8. The operculum syndrome

    African Journals Online (AJOL)

    operculum syndrome usually has a-more favourable prognosis ... when he had had an acute cerebrovascular accident which left him with mild ... respiratory or abdominal signs. ... symptoms, such as impaired deglurition (salivation, difficulty.

  9. Meier-Gorlin syndrome

    NARCIS (Netherlands)

    Munnik, S.A. de; Hoefsloot, E.H.; Roukema, J.; Schoots, J.; Knoers, N.V.A.M.; Brunner, H.G.; Jackson, A.P.; Bongers, E.M.H.F.

    2015-01-01

    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females

  10. Ellis Von Creveld Syndrome

    Directory of Open Access Journals (Sweden)

    Afshar H

    1999-01-01

    Full Text Available One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart"ndisease, ectodermal dysplasia, polyductyly, an abnormally wide labial frenum and maxillary"nmolars with single root.

  11. Cutaneous nerve entrapment syndrome

    Institute of Scientific and Technical Information of China (English)

    DongFuhui

    2004-01-01

    The cutaneous nerve entrapment syndrome is named that, the cutaneous nerve's functional disorder caused by some chronic entrapment, moreover appears a series of nerve's feeling obstacle,vegetative nerve function obstacle, nutrition obstacle, even motor function obstacle in various degree.

  12. Cardiorenal Syndromes and Sepsis

    Directory of Open Access Journals (Sweden)

    C. Chelazzi

    2011-01-01

    Full Text Available The cardiorenal syndrome is a clinical and pathophysiological entity defined as the concomitant presence of renal and cardiovascular dysfunction. In patients with severe sepsis and septic shock, acute cardiovascular, and renal derangements are common, that is, the septic cardiorenal syndrome. The aim of this paper is to describe the pathophysiology and clinical features of septic cardiorenal syndrome in light of the actual clinical and experimental evidence. In particular, the importance of systemic and intrarenal endothelial dysfunction, alterations of kidney perfusion, and myocardial function, organ “crosstalk” and ubiquitous inflammatory injury have been extensively reviewed in light of their role in cardiorenal syndrome etiology. Treatment includes early and targeted optimization of hemodynamics to reverse systemic hypotension and restore urinary output. In case of persistent renal impairment, renal replacement therapy may be used to remove cytokines and restore renal function.

  13. Dumping syndrome (image)

    Science.gov (United States)

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

  14. Prader-Willi syndrome

    Science.gov (United States)

    ... Willi syndrome. It can help: Build strength and agility Improve height Increase muscle mass and decrease body ... The following organizations can provide resources and support: ... www.pwsausa.org Prader Willi California Foundation: pwcf.org ...

  15. Chronic Fatigue Syndrome

    Science.gov (United States)

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

  16. Blind loop syndrome

    Science.gov (United States)

    ... part of the stomach) and operations for extreme obesity As a complication of inflammatory bowel disease Diseases such as diabetes or scleroderma may slow down movement in a segment of the intestine, leading to blind loop syndrome.

  17. Down Syndrome (For Parents)

    Science.gov (United States)

    ... disorders, breathing problems, including sleep apnea and asthma, obesity, an increased chance of infections, and a higher risk of childhood leukemia. People with Down syndrome sometimes have an unstable upper spine and should ...

  18. Facts About Usher Syndrome

    Science.gov (United States)

    ... optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, ... type 1 Usher syndrome are profoundly deaf at birth and have severe balance problems. Many of these ...

  19. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander

    2013-01-01

    to 75% of the patients left undetected. Typically, diagnosis is delayed with the majority of patients identified during fertility workup in adulthood, and only 10% of patients diagnosed prior to puberty. Early detection of this syndrome is recommended in order to offer treatment and intervention...... at the appropriate ages and stages of development for the purpose of preventing osteopenia/osteoporosis, metabolic syndrome, and other medical conditions related to hypogonadism and to the XXY as well as minimizing potential learning and psychosocial problems. The aim of this review is to present the clinical......47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure...

  20. Obesity Hypoventilation Syndrome

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih- ... NHLBI Research Featured in HBO Documentary Series on Obesity Hear people talk about their challenges and successes ...

  1. Treacher Collins Syndrome

    Science.gov (United States)

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

  2. Joubert Syndrome, A Ciliopathy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-10-01

    Full Text Available Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS development.

  3. Beckwith-Wiedemann syndrome

    Science.gov (United States)

    ... Wiedemann syndrome References Jones KL, Jones M, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation . ... Ogilvie, PhD, and the A.D.A.M. Editorial team. Related MedlinePlus Health Topics Growth Disorders Browse ...

  4. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and ... difficult. Often, the cause is having a smaller carpal tunnel than other people do. Other causes include ...

  5. Polycystic Ovary Syndrome FAQ

    Science.gov (United States)

    ... are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • What can high levels of androgens lead to? • What can irregular menstrual periods lead ...

  6. Meier-Gorlin syndrome

    NARCIS (Netherlands)

    Munnik, S.A. de; Hoefsloot, E.H.; Roukema, J.; Schoots, J.; Knoers, N.V.A.M.; Brunner, H.G.; Jackson, A.P.; Bongers, E.M.H.F.

    2015-01-01

    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females a

  7. Chronic Exertional Compartment Syndrome

    Science.gov (United States)

    ... through the pain; that can lead to permanent muscle or nerve damage. Sometimes chronic exertional compartment syndrome is mistaken for shin splints, a more common cause of leg pain in young people who do a lot of vigorous weight- ...

  8. Sjogren's Syndrome Foundation

    Science.gov (United States)

    ... and receive discounts on Sjögren's resources. Follow Us Online! Join the SSF on Twitter, YouTube, Facebook, and Linkedin! anxiety © 2016 Sjögren’s Syndrome Foundation, Inc. 6707 Democracy Blvd, Ste 325, Bethesda, ...

  9. PIRIFORMIS SYNDROME: A REVIEW

    Directory of Open Access Journals (Sweden)

    Subhasis Ranjan

    2014-04-01

    Full Text Available Piriformis syndrome is a painful musculoskeletal condition resembling sciatica, secondary to sciatic nerve entrapment in piriformis muscle at the greater sciatic notch and responsible for 6%cases of low back pain, also called back pocket sciatica or wallet sciatica, first described in 1928 by Yeoman. It usually occurs due to abnormalities in piriformis muscle such as hypertrophy, inflammation and anatomic variations resulting in irritation and entrapment of sciatic nerve. The diagnosis of piriformis syndrome is made by clinical features, electromyography and nerve conduction velocity, computed tomography, magnetic resonance imaging and bone scan. Management of piriformis syndrome includes nonsurgical and surgical interventions. Non-surgical management includes- nonsteroidal anti-inflammatory drugs, physical therapy, ultrasound, correction of biomechanical abnormality, lifestyle modifications, local anesthetic and/or steroid injection into the piriformis muscle. Surgical management includes-surgical release of piriformis muscle and decompression of the sciatic nerve. Piriformis Syndrome- a review.

  10. Catastrophic Antiphospholipid Syndrome

    Directory of Open Access Journals (Sweden)

    Rawhya R. El-Shereef

    2016-01-01

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

  11. Russell-Silver syndrome

    Science.gov (United States)

    ... other conditions that may mimic Russell-Silver syndrome) Treatment Growth hormone replacement may help if this hormone is lacking. Other treatments include: Making sure the person gets enough calories, ...

  12. Prader-Willi syndrome

    National Research Council Canada - National Science Library

    Cassidy, Suzanne B; Driscoll, Daniel J

    2009-01-01

    Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy...

  13. Vogt koyanagi harada syndrome

    Directory of Open Access Journals (Sweden)

    Amin S

    1992-01-01

    Full Text Available A case of Vogt Koyanagi Harada syndrome is reported. The depigmented macules appeared initially over eyebrows and around both eyes after an episode of fever and then rapidly involved almost the entire body within 6 months.

  14. Complex Regional Pain Syndrome

    Science.gov (United States)

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

  15. Sun and Sjogren's Syndrome

    Science.gov (United States)

    Patient Education Sheet The Sun and Sjögren’s Syndrome The SSF thanks Mona Z. Mofid, MD, FAAD, Diplomate, American Board of Dermatology, and Medical Director, American Melanoma Foundation, San Diego, California, ...

  16. Acute heart failure syndrome

    African Journals Online (AJOL)

    tandfonline.com/ ... When heart failure develops gradually, there is time for the compensatory ... of this can be seen in acute brain injury, some forms of takotsubo syndrome or .... reduce blood pressure in cases presenting with elevated blood pressure.

  17. Bardet-Biedl Syndrome

    Science.gov (United States)

    ... symptoms progress rapidly and usually lead to severe visual impairment by early adulthood. In addition to RP, polydactyly ( ... Biedl syndrome experience developmental disabilities ranging from mild impairment or delayed emotional development to mental retardation. The degree of mental retardation ...

  18. Zollinger-Ellison Syndrome

    Science.gov (United States)

    ... stomach to produce too much acid. The excess acid then leads to peptic ulcers, as well as to diarrhea and other symptoms. Zollinger-Ellison syndrome (ZES) is rare. The disease may occur at any time in life, but ...

  19. 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.

  20. Ehlers-Danlos' Syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense

    2016-01-01

    Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise diagnostic criteria...