WorldWideScience

Sample records for radiation syndrome individual

  1. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Souhami Filho, L.

    1985-01-01

    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.) [pt

  2. Radiation nephritis causing nephrotic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Jennette, J.C.; Ordonez, N.G.

    1983-12-01

    Clinical symptoms of acute radiation nephritis with nephrotic syndrome developed in a fifty-six-year-old woman after abdominal radiation therapy for an astrocytoma of the spinal cord. The diagnosis of radiation nephritis was confirmed by renal biopsy. To our knowledge, this is the first documented case of radiation nephritis associated with nephrotic syndrome.

  3. Acute irradiation syndrome : radiation disease

    International Nuclear Information System (INIS)

    Mestries, J.C.; Multon, E.

    1995-01-01

    It is classically assumed that the symptomatology of the acute radiation syndrome is mainly due to stem and progenitor cells death in compartimentalized tissues, particularly in bone marrow and intestine. Our observations on baboons, irradiated with a mixed neutron/gamma or a gamma radiation, showed that the whole organism response plays a major role. There is an inflammatory syndrome, not only during the prodromal phase, but also a second one, that precedes and accompanies the manifest-illness phase. This inflammatory syndrome was associated with coagulation disorders which are largely responsible for bleeding. This syndrome makes the therapeutic approach more complicated since some cytokines, which could be able to improve the hematopoietic cells recovery (e.g. IL-6), exhibit pro-inflammatory activities as well. Regarding radiobiological triage, no biological marker has a prognosis value during the first days following a radiation exposure, for those individuals exposed to around a LD50. On the contrary, some inflammation markers allow to anticipate a fatal issue, without any treatment, as early as the beginning of the manifest-illness phase. (authors). 10 refs., 11 figs

  4. Diagnosis and therapy of cutaneous radiation syndrome. Individual radiosensitivity assessment in patients undergoing medical exposures presenting severe cutaneous radiation induced lesions

    International Nuclear Information System (INIS)

    Di Giorgio, Marina; Vallerga, Maria B.; Perez, Maria R.; Portas, Mercedes

    2007-01-01

    Hospital de Quemados del Gobierno de la Ciudad de Buenos Aires (Burn Center) is one of the reference hospitals of the Medical Radiological Emergency Response Network of Argentina. In the frame of an agreement between the Burn Center and the Nuclear Regulatory Authority of Argentina, a research project for an approach based on diagnosis and therapy of cutaneous radiation induced lesions is in progress. Individual radiosensitivity assessment was conducted in patients included in this research protocol that showed acute and/or late cutaneous reactions with grades 3 and 4 of the Toxicity criteria of the Radiation Therapy Oncology Group (RTOG) and the European organization for research and treatment of cancer (EORTC). DNA repair capacity and its kinetics were evaluated in human peripheral blood lymphocytes using alkaline comet assay and micronucleus test. In this paper, two representative cases, in which the research protocol was applied, are presented. Therapeutic response and its correlation with radiosensitivity test results are described. Case 1: female patient undergoing external radiotherapy for invasive ductal breast cancer that presented acute cutaneous radiotoxicity, grade 3 (confluent moist epithelitis, )that led to treatment break. Case 2: male patient undergoing coronary angioplasty (interventional radiology), which developed late cutaneous radiotoxicity, grade 4 (ulceration at the dorsal region). Patients were treated with: topic administration of trolamine and silver sulfadiazine with lidocaine, associated with systemic administration of pentoxiphiline and anti-oxidants. The therapeutic response was evaluated through clinical follow-up, serial photographic record and complementary tests (tele thermography and high frequency ultrasonography). Case 1 response was positive (favorable) with early local recovery and complete remission of signs and symptoms after 5 months. Both MN frequencies and comet assay showed values compatible with normal radiosensitivity

  5. The cutaneous radiation syndrome: diagnosis and treatment

    International Nuclear Information System (INIS)

    Peter, R.U.; Steinert, M.; Gottlober, P.

    2001-01-01

    Accidental exposure to ionising radiation may occur during such catastrophic events as the Chernobyl accident in 1986 or for days and weeks as in Goiania in 1987 and in the military camp during the training of soldiers in Lilo/Georgia in 1997 as well as in medical institutions. The cutaneous symptoms after radiation exposure are based on a combination of inflammatory processes and alteration of cellular proliferation as a result of a specific pattern of transcriptionally activated pro-inflammatory cytokines and growth factors. They follow a time course consisting of prodromal erythema, manifestation, chronic stage, late stage and they are referred to as Cutaneous Radiation Syndrome. The time course depends on several factors such as the applied radiation dose, radiation quality, individual radiation sensitivity, the extent of contamination and absorption and volume of the skin. For diagnostics of the cutaneous radiation syndrome the following procedures are used: 7.5 MHz to 20 MHz-B-scan-sonography, thermography, capillary microscopy, profilometry, nuclear magnetic resonance imaging, bone scintigraphy and histology. Based on the results of experimental and clinical research of the last years pharmacotherapy of the cutaneous radiation syndrome includes topic or systemic application of corticosteroids, gamma-interferon, pentoxifylline and vitamin E and superoxide dismutase. The treatment depends on the stage of the cutaneous radiation syndrome. Due to the complexity of the clinical manifestations of radiation disease in most patients an interdisciplinary treatment in specialized centres is necessary. Dermatologists are asked to perform in most cases life-long therapy and follow-up of the patients. (author)

  6. Down syndrome and ionizing radiation.

    Science.gov (United States)

    Verger, P

    1997-12-01

    This review examines the epidemiologic and experimental studies into the possible role ionizing radiation might play in Down Syndrome (trisomy 21). It is prompted by a report of a temporal cluster of cases of this chromosomal disorder observed in West Berlin exactly 9 mo after the radioactive cloud from Chernobyl passed. In approximately 90% of cases, Down Syndrome is due to the nondisjunction of chromosome 21, most often in the oocyte, which may be exposed to ionizing radiation during two separate periods: before the completion of the first meiosis or around the time of ovulation. Most epidemiologic studies into trisomies and exposure to ionizing radiation examine only the first period; the Chernobyl cluster is related to the second. Analysis of these epidemiologic results indicates that the possibility that ionizing radiation might be a risk factor in Down Syndrome cannot be excluded. The experimental results, although sometimes contradictory, demonstrate that irradiation may induce nondisjunction in oogenesis and spermatogenesis; they cannot, however, be easily extrapolated to humans. The weaknesses of epidemiologic studies into the risk factors for Down Syndrome at birth (especially the failure to take into account the trisomy cases leading to spontaneous abortion) are discussed. We envisage the utility and feasibility of new studies, in particular among women exposed to prolonged or repeated artificially-produced ionizing radiation.

  7. Irritable bowel syndrome and vocational stress: individual ...

    African Journals Online (AJOL)

    Irritable bowel syndrome and vocational stress: individual psychotherapy: research. ... The goal of this study was to provide individualised psychotherapy for a sample suffering from IBS and vocational stress. ... AJOL African Journals Online.

  8. Medical management of the acute radiation syndrome

    International Nuclear Information System (INIS)

    Lopez, M.; Martin, M.

    2011-01-01

    The acute radiation syndrome (ARS) occurs after whole-body or significant partial-body irradiation (typically at a dose of >1 Gy). ARS can involve the hematopoietic, cutaneous, gastrointestinal and the neurovascular organ systems either individually or in combination. There is a correlation between the severity of clinical signs and symptoms of ARS and radiation dose. Radiation induced multi-organ failure (MOF) describes the progressive dysfunction of two or more organ systems over time. Radiation combined injury (RCI) is defined as radiation injury combined with blunt or penetrating trauma, burns, blast, or infection. The classic syndromes are: hematopoietic (doses >2 - 3 Gy), gastrointestinal (doses 5- 12 Gy) and cerebrovascular syndrome (doses 10 - 20 Gy). There is no possibility to survive after doses >10 - 12 Gy. The Phases of ARS are - prodromal: 0 - 2 days from exposure, latent: 2 - 20 days, and manifest illness: 21 - 60 days from exposure. Granulocyte-colony stimulating factor (G-CSF) at a dose of 5 micro g/kg body weight per day subcutaneously has been recommended as treatment of neutropenia, and antibiotics, antiviral and antifungal agents for prevention or treatment of infections. If taken within the first hours of contamination, stable iodine in the form of nonradioactive potassium iodide (KI) saturates iodine binding sites within the thyroid and inhibits incorporation of radioiodines into the gland. Finally, if severe aplasia persists under cytokines for more than 14 days, the possibility of a hematopoietic stem cell (HSC) transplantation should be evaluated. This review will focus on the clinical aspects of the ARS, using the European triage system (METREPOL) to evaluate the severity of radiation injury, and scoring groups of patients for the general and specific management of the syndrome. (authors)

  9. Personalized medicine for individuals with Down syndrome.

    Science.gov (United States)

    McCabe, Linda L; McCabe, Edward R B

    2011-01-01

    As the cost of whole genome analysis decreases, we have the opportunity to explore the interactions of various gene changes in an individual that lead to their particular phenotype. This will provide the ability to move from the epidemiologic study of groups, in which, the individuals are treated collectively and homogenously, to personalized medicine, and a model in which the individual is recognized and treated as a distinct entity. We will be applying personalized medicine to individuals with Down syndrome in order to understand and develop biomarkers for increased risk of co-morbidities. Personalized medicine will change the "culture of intractability" of Down syndrome. Copyright © 2011 Elsevier Inc. All rights reserved.

  10. Acute radiation syndrome caused by accidental radiation exposure - therapeutic principles

    Directory of Open Access Journals (Sweden)

    Dörr Harald

    2011-11-01

    Full Text Available Abstract Fortunately radiation accidents are infrequent occurrences, but since they have the potential of large scale events like the nuclear accidents of Chernobyl and Fukushima, preparatory planning of the medical management of radiation accident victims is very important. Radiation accidents can result in different types of radiation exposure for which the diagnostic and therapeutic measures, as well as the outcomes, differ. The clinical course of acute radiation syndrome depends on the absorbed radiation dose and its distribution. Multi-organ-involvement and multi-organ-failure need be taken into account. The most vulnerable organ system to radiation exposure is the hematopoietic system. In addition to hematopoietic syndrome, radiation induced damage to the skin plays an important role in diagnostics and the treatment of radiation accident victims. The most important therapeutic principles with special reference to hematopoietic syndrome and cutaneous radiation syndrome are reviewed.

  11. Reconstructive dosimetry for cutaneous radiation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lima, C.M.A.; Lima, A.R.; Degenhardt, Ä.L.; Da Silva, F.C.A., E-mail: dasilva@ird.gov.br [Instituto de Radioprotecao e Dosimetria (IRD/CNEN-RJ), Rio de Janeiro, RJ (Brazil); Valverde, N.J. [Fundacao Eletronuclear de Assistencia Medica, Rio de Janeiro, RJ (Brazil)

    2015-10-15

    According to the International Atomic Energy Agency (IAEA), a relatively significant number of radiological accidents have occurred in recent years mainly because of the practices referred to as potentially high-risk activities, such as radiotherapy, large irradiators and industrial radiography, especially in gammagraphy assays. In some instances, severe injuries have occurred in exposed persons due to high radiation doses. In industrial radiography, 80 cases involving a total of 120 radiation workers, 110 members of the public including 12 deaths have been recorded up to 2014. Radiological accidents in industrial practices in Brazil have mainly resulted in development of cutaneous radiation syndrome (CRS) in hands and fingers. Brazilian data include 5 serious cases related to industrial gammagraphy, affecting 7 radiation workers and 19 members of the public; however, none of them were fatal. Some methods of reconstructive dosimetry have been used to estimate the radiation dose to assist in prescribing medical treatment. The type and development of cutaneous manifestations in the exposed areas of a person is the first achievable gross dose estimation. This review article presents the state-of-the-art reconstructive dosimetry methods enabling estimation of local radiation doses and provides guidelines for medical handling of the exposed individuals. The review also presents the Chilean and Brazilian radiological accident cases to highlight the importance of reconstructive dosimetry. (author)

  12. Executive Functions in Individuals with Williams Syndrome

    Science.gov (United States)

    Menghini, D.; Addona, F.; Costanzo, F.; Vicari, S.

    2010-01-01

    Background: The present study was aimed at investigating working memory (WM) and executive functions capacities in individuals with Williams syndrome (WS) as compared with mental-age matched typically developing (TD) children. Method: In order to serve the study goal, a sizeable battery of tasks tapping WM as well as attention, memory, planning,…

  13. Acute Radiation Syndrome. Consequences and outcomes

    International Nuclear Information System (INIS)

    Okladnikova, N.D.; Pesternikova, V.S.; Sumina, M.V.; Azizova, T.V.; Yurkov, N.N.

    2000-01-01

    The consequences and outcomes of an Acute Radiation Syndrome (ARS), induced by external gamma radiation for 59 persons (49 men and 10 women) have been estimated. All incidents have taken place more than 40 years ago in the yearly years of adjustment of an atomic industry (1950-1953-38 persons, 1954-1958-21 persons). According to the degree of severity ARS 5 groups are selected: the severest degree - 7 individuals (average dose in group 43.8±12.8 Sv), severe - 4 individuals (9.3±1.5 Sv), medium - 14 individuals (2.2±0.8 Sv), a light degree - 15 individuals (0.93±0.13 Sv), ''erased'' from - 19 individuals (0.85±0.07 Sv). In all cases, except for lethal (the severest degree), the characteristics of morphological composition of the peripheral blood were restored in the first year after ARS and now correspond to physiological standard. In 2 cases the moderate hypoplasia of granulocytopoiesis was diagnosed. A marker of the acute exposure was the chromosome aberrations in lymphocytes of the peripheral blood. The frequency of chromosome aberrations correlates with severity degree of ARS (from 3-7 up to 35-50 stable aberrations per 100 cells). In cases of ARS with severe degree the early development of a cerebral atherosclerosis is detected. The radiation cataract was diagnosed in 5 patients (an exposure doses 4.0-9.8 Sv, a period of development 2-5 years). During the first years after ARS in 80% of cases the complete labour rehabilitation is reached. Of 53 patients with known vital status by 45 year of monitoring 19 persons (35.8%) have died, of these in 2 cases the causes of death are not determined. In remaining cases the causes of death were ARS of severest degree (7 persons), Ischemic Heart Disease (5 persons), malignant tumors (4 persons), accidents and traumas (2 persons). (author)

  14. Individual Dosimetry for High Energy Radiation Fields

    International Nuclear Information System (INIS)

    Spurny, F.

    1999-01-01

    The exposure of individuals on board aircraft increased interest in individual dosimetry in high energy radiation fields. These fields, both in the case of cosmic rays as primary radiation and at high energy particle accelerators are complex, with a large diversity of particle types, their energies, and linear energy transfer (LET). Several already existing individual dosemeters have been tested in such fields. For the component with high LET (mostly neutrons) etched track detectors were tested with and without fissile radiators, nuclear emulsions, bubble detectors for both types available and an albedo dosemeter. Individual dosimetry for the low LET component has been performed with thermoluminescent detectors (TLDs), photographic film dosemeters and two types of electronic individual dosemeters. It was found that individual dosimetry for the low LET component was satisfactory with the dosemeters tested. As far as the high LET component is concerned, there are problems with both the sensitivity and the energy response. (author)

  15. Acute and chronic radiation syndrome in domestic animals

    International Nuclear Information System (INIS)

    Nuessel, M.

    1974-11-01

    The paper reports on the incidence and the clinical picture of the radiation syndrome in domestic animals, especially in pigs which are often used in animal experiments. The following parameters which influence the radiation reaction are discussed: type of irradiation (whole-body, partial-body and local irradiation), mean lethal radiation dose, radiation quality and RBE, age and individual radiosensitivity. The auther then describes the various symptoms of the radiation syndrome and the lesions which lead to death (death due to intestinal lesions, death following changes in the central nervous system). The next few chapters treat the symptoms manifested after chronic and internal irradiation. The paper closes with some remarks on the usability of irradiated animals for human consumption. (MG/AK) [de

  16. Stem cell-based therapies for acute radiation syndrome

    International Nuclear Information System (INIS)

    Guha, Chandan

    2014-01-01

    Exposure to high doses of ionizing radiation in the event of accidental or intentional incident such as nuclear/radiological terrorism can lead to debilitating injuries to multiple organs resulting in death within days depending on the amount of radiation dose and the quality of radiation. Unfortunately, there is not a single FDA-licensed drug approved against acute radiation injury. The RadStem Center for Medical Countermeasures against Radiation (RadStem CMGR) program at Einstein is developing stem cell-based therapies to treat acute radiation syndrome (ARS). We have demonstrated that intravenous transplantation of bone marrow-derived and adipose-derived stromal cells, consisting of a mixture of mesenchymal, endothelial and myeloid progenitors can mitigate mice exposed to whole body irradiation of 12 Gy or whole abdominal irradiation of up to 20 Gy. We identified a variety of growth and differentiation factors that individually is unable to improve survival of animals exposed to lethal irradiation, but when administered sequentially mitigates radiation injury and improves survival. We termed this phenomenon as synthetic survival and describe a new paradigm whereby the 'synthetic survival' of irradiated tissues can be promoted by systemic administration of growth factors to amplify residual stem cell clonogens post-radiation exposure, followed by a differentiation factor that favors tissue stem cell differentiation. Synthetic survival can be applied to mitigate lethal radiation injury in multiple organs following radiation-induced hematopoeitic, gastrointestinal and pulmonary syndromes. (author)

  17. Balance impairment in individuals with Wolfram syndrome.

    Science.gov (United States)

    Pickett, Kristen A; Duncan, Ryan P; Paciorkowski, Alex R; Permutt, M Alan; Marshall, Bess; Hershey, Tamara; Earhart, Gammon M

    2012-07-01

    Wolfram syndrome (WFS), a rare neurodegenerative disorder, is characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities. Although previously unreported, we hypothesized that neurological complications may be detectable in relatively early stages of the disease. As the cerebellum and brainstem seem particularly vulnerable in WFS, we focused on balance functions critically dependent on these regions. The primary goal of this investigation was to compare balance in young individuals with WFS, in relatively early stages of the disease, to an age-matched cohort using a clinically applicable test. Balance was assessed via the mini-BESTest in 13 children, adolescents and young adults with WFS and 30 typically developing age-matched individuals. A significant difference was observed between groups in balance as well as in three of four subcomponents of the mini-BESTest and in two timed tasks related to balance. Mini-BESTest scores were correlated with age among typically developing individuals. In the WFS group, mini-BESTest scores were related to overall motor dysfunction, but not age. Impairments in balance in WFS may occur earlier in the disease process than previously recognized and appear to be related to overall neurological progression rather than chronological age. Recognizing balance impairments and understanding which balance systems contribute to balance deficits in those with WFS may allow for development of effective patient-centered treatment paradigms. Copyright © 2012 Elsevier B.V. All rights reserved.

  18. Individual skin care during radiation therapy

    International Nuclear Information System (INIS)

    Zimmermann, J.S.; Budach, W.; Doerr, W.

    1998-01-01

    Background: In many clinical settings, the irradiated patient feels additional discomfort by the inhibition of washing the treatment portals and interruption of his adapted skin care habits. Material and methods: An analysis of the scientific recommendations as well as an analysis of the skin dose to the irradiated portals has been performed. An individual scheme for skin care under radiation has been developed. Results: A substantial decrease of the skin dose is achieved in many modern radiation techniques. The consequent reduction of severe skin reactions allowed the use of water and mild soaps as has been approved within many radiotherapy departments. This has lead to an individualized concept for skin care under radiation treatment including the allowance of gentle washing. The skin marks may be saved by using highly tolerable adhesive plasters or small tattoo points, if they are not superfluous by using masks or single referee points instead of marks for the field borders. Conclusions: The individualized concept for skin care during radiation may offer improved life quality to the patient and may decrease the acute reactions of the skin at least in some cases. (orig.) [de

  19. Molecular basis of radiation syndrome

    International Nuclear Information System (INIS)

    Romantsev, E.F.; Blokhina, V.D.; Zhulanova, Z I.; Koshcheenko, N.N.; Nikol'skij, A.V.; Filippovich, I.V.

    1984-01-01

    The book is devoted to the analysis of the mechanism of action of ionizing radiation on the most important biochemical processes in the cells and tissues. The postirradiating disturbances of the metabolism of precursors of nucleic acids, biosynthesis of proteins, metabolism of prostaglandins and cyclic nucleotides were examined in detail. The biochemical mechanism of the interphase cell death was discussed. The analysis of the experimental facts about the effect of ionizing radiation with different dose rate upon the cell metabolism was made

  20. Periodontal disease in individuals with Down Syndrome: genetic focus

    Directory of Open Access Journals (Sweden)

    Lícia Bezerra Cavalcante

    2009-12-01

    Full Text Available Fundamental concepts of etiology, inheritance and clinical characteristics of Down syndrome are used in this review as a basis for submission of studies that focus on periodontal disease in individuals with Down syndrome, since almost 100% of them develop the disease in adult life. It is believed that in association with environmental and cultural factors related to hygiene and disabilities of coordination, the immunological characteristics that are found altered in individuals with Down syndrome, such as deficient neutrophil chemotaxis and reduced number of mature T lymphocytes, may contribute to the greater prevalence and severity of periodontal involvement in patients with Down syndrome. Moreover, the pattern of periodontal destruction observed in individuals with Down syndrome is consistent with aggressive periodontitis, with a predominance of periodontopathogens such as Aggregatibacter actinomycetemcomitans, Porphyromonas gingivalis and Tannerella forsythensis during childhood and adolescence of Down’s syndrome patients. It is possible to note a relationship between the development of molecular techniques and the evolution of knowledge about Down syndrome, for example: identification of the trisomy syndrome by observing only part of chromosome 21 (distal long arm; identification of genes in this trisomic region and the pattern of superexpression (or not of these genes. Moreover, in this review future perspectives are presented with regard to better understanding Down syndrome in the genetic context, which will reflect in more individualized and effective clinical treatments that will provide these patients with a better quality of life.

  1. Intercomparison of radiation dosimeters for individual monitoring

    International Nuclear Information System (INIS)

    1993-05-01

    The Co-ordinated Research Programme on Intercomparison for Individual Monitoring was established to provide participants with an opportunity to assess (1) their ability to measure external photon radiation fields and (2) the potential impact of introduction of the new operational quantities on their dosimetry programmes. Twenty-four laboratories from 18 IAEA Member States and three international organizations, including the IAEA, participated. The results of phase II of the CRP are presented in this document, which includes a compilation of the presentations and conclusions from the meeting. Refs, figs and tabs

  2. Individual radiation sensitivity: implications in medical practice

    Energy Technology Data Exchange (ETDEWEB)

    Gisone, P.; Dubner, D.; Perez, M.D.R.; Michelin, S.; Di Giogio, M. [Autoridad Regulatoria Nuclear, Buenos Aires (Argentina); Bourguignon, M. [Direction Generale de la Surete Nucleaire et de la Radioprotection, Paris (France)

    2006-07-01

    Important advances in radiotherapy and nuclear medicine towards better treatment modalities and safer applications have taken place in recent years. Progress in medical imaging, better tumour targeting and optimization of radiation delivery have allowed for dose escalation and improved patient outcome. However, the tolerance of normal tissues constitutes the limiting factor for dose escalation in therapeutical uses of ionizing radiation (IR). Patients vary considerably in their normal tissue response to IR even after similar treatments. As many as 5% of cancer patients develop severe effects to external radiation therapy in normal tissues within the treatment field: they may include acute effects such as erythema and desquamation of the exposed skin and mucosa that appear during or directly after radiotherapy, late effects developed months or years later, such as fibrosis and telangiectasia and cancer induction. Several patient and treatment related factors are known to influence the variability of side effects, however up to a 70% of the total variance of normal tissue radiation response remained unexplained. Thus, individual sensitivity to IR, i.e. hypersensitivity to carcinogenic risks (stochastic effects) and hypersensitivity to deterministic effects, is becoming an important issue in oncology and raises questions regarding the underlying mechanisms. The mechanisms of DNA repair, the signalling pathways involved in radiation sensitivity and non-targeted effects are key aspects, essential to understanding radiation effects at genetic level. Moreover, human genetic diseases that combine higher incidence of cancer and hypersensitivity to IR are associated with defects in cell response to DNA damage. Therefore, much interest has raised during the last years in the developing of predictive tests capable to detect in advance such hypersensitive conditions. The goal of this presentation is to review the possible mechanisms involved in genetic and epigenetic

  3. Individual radiation sensitivity: implications in medical practice

    International Nuclear Information System (INIS)

    Gisone, P.; Dubner, D.; Perez, M.D.R.; Michelin, S.; Di Giogio, M.; Bourguignon, M.

    2006-01-01

    Important advances in radiotherapy and nuclear medicine towards better treatment modalities and safer applications have taken place in recent years. Progress in medical imaging, better tumour targeting and optimization of radiation delivery have allowed for dose escalation and improved patient outcome. However, the tolerance of normal tissues constitutes the limiting factor for dose escalation in therapeutical uses of ionizing radiation (IR). Patients vary considerably in their normal tissue response to IR even after similar treatments. As many as 5% of cancer patients develop severe effects to external radiation therapy in normal tissues within the treatment field: they may include acute effects such as erythema and desquamation of the exposed skin and mucosa that appear during or directly after radiotherapy, late effects developed months or years later, such as fibrosis and telangiectasia and cancer induction. Several patient and treatment related factors are known to influence the variability of side effects, however up to a 70% of the total variance of normal tissue radiation response remained unexplained. Thus, individual sensitivity to IR, i.e. hypersensitivity to carcinogenic risks (stochastic effects) and hypersensitivity to deterministic effects, is becoming an important issue in oncology and raises questions regarding the underlying mechanisms. The mechanisms of DNA repair, the signalling pathways involved in radiation sensitivity and non-targeted effects are key aspects, essential to understanding radiation effects at genetic level. Moreover, human genetic diseases that combine higher incidence of cancer and hypersensitivity to IR are associated with defects in cell response to DNA damage. Therefore, much interest has raised during the last years in the developing of predictive tests capable to detect in advance such hypersensitive conditions. The goal of this presentation is to review the possible mechanisms involved in genetic and epigenetic

  4. Individual skin care during radiation therapy

    Energy Technology Data Exchange (ETDEWEB)

    Zimmermann, J.S. [Klinik fuer Strahlentherapie (Radioonkologie), Christian-Albrechts-Universitaet Kiel (Germany); Budach, W. [Klinik und Poliklinik fuer Strahlentherapie und Radioonkologie, Eberhard-Carls-Universitaet Tuebingen (Germany); Doerr, W. [Klinik und Poliklinik fuer Strahlentherapie und Radioonkologie, Medizinische Fakultaet Carl Gustav Carus, Dresden (Germany)

    1998-11-01

    Background: In many clinical settings, the irradiated patient feels additional discomfort by the inhibition of washing the treatment portals and interruption of his adapted skin care habits. Material and methods: An analysis of the scientific recommendations as well as an analysis of the skin dose to the irradiated portals has been performed. An individual scheme for skin care under radiation has been developed. Results: A substantial decrease of the skin dose is achieved in many modern radiation techniques. The consequent reduction of severe skin reactions allowed the use of water and mild soaps as has been approved within many radiotherapy departments. This has lead to an individualized concept for skin care under radiation treatment including the allowance of gentle washing. The skin marks may be saved by using highly tolerable adhesive plasters or small tattoo points, if they are not superfluous by using masks or single referee points instead of marks for the field borders. Conclusions: The individualized concept for skin care during radiation may offer improved life quality to the patient and may decrease the acute reactions of the skin at least in some cases. (orig.) [Deutsch] Hintergrund: In vielen klinischen Situationen erfaehrt der bestrahlte Patient zusaetzliche Belastungen durch das frueher ausgesprochene Waschverbot der Bestrahlungsfelder wie auch durch die Unterbrechung seiner langjaehrigen Hygienegewohnheiten. Material und Methoden: Es wurde eine Analyse der wissenschaftlichen Empfehlungen wie auch der heutzutage bei modernen Bestrahlungstechniken auftretenden Hautdosis durchgefuehrt. Ein individuelles Schema zur Pflege der bestrahlten Haut wurde entwickelt. Ergebnisse: Durch eine Verringerung der Hautdosis und damit der Inzidenz schwerer Hautreaktionen bei modernen Bestrahlungstechniken wird mittlerweile in vielen Abteilungen das `Waschverbot` fuer bestrahlte Haut gelockert. Dies hat zu einem individualisierten Hautpflegekonzept unter der Bestrahlung

  5. Experiences of Bullying for Individuals with Williams Syndrome

    Science.gov (United States)

    Fisher, Marisa H.; Lough, Emma; Griffin, Megan M.; Lane, Laurel A.

    2017-01-01

    Background: Individuals with intellectual disability experience high rates of bullying, but it is not known how people with specific syndromes, such as Williams syndrome (WS), experience and respond to bullying. Given their behavioral profile, including hypersociability and heightened anxiety, and their risk for experiencing other forms of…

  6. Multiparametric assessment of radiation effects for the individual radiation sensitivity estimation

    International Nuclear Information System (INIS)

    2006-01-01

    The effects of low dose irradiation are highly relevant for radiation protection in the public. The sensitivity to clastogenic and tumorigenic effects of ionizing radiation (IR) varies considerably amongst individuals. Examples for genetically determined enhanced sensitivity are well known in some hereditary diseases: patients with chromosomal instability syndromes, Ataxia telangiectasia (A-T), Nijmegen Breakage Syndrome (NBS) and Bloom Syndrome (BS) show strongly enhanced sensitivity towards IR, severe immunodeficiencies, and a high incidence for developing leukemias and lymphomas. This obvious coincidence of enhanced radiosensitivity and tumor risk, and the frequently observed enhanced radiosensitivity of genetically non-defined tumor patients indicate that tumor patients may constitute a subpopulation with enriched genetical predisposition for enhanced radiosensitivity. Furthermore, a subpopulation of radiosensitive individuals may be part of the probably inconspicuous total population. For example, individuals heterozygous for the above mentioned genes (and possibly some other genes) show enhanced radiosensitivity if compared with the normal population. In general, heterozygous carriers of those hereditary deficiencies are clinically inconspicuous, but due an haploinsufficiency their tumour risk may be enhanced. This has been shown for mice carrying an heterozygous Nbs1 mutation (J.-Q. Wang, Lyon, pers. Communication). Our findings concerning enhanced radiation-induced chromosomal aberrations in heterozygous Nbs1 cell lines support this notion. The identification of high risk groups with enhanced radiosensitivity is therefore an important task for radioprotection. This project aimed at establishing a procedure which allows to test various cellular parameters as indicators for effects of radiation. A standard protocol for the isolation and cryoconservation of primary blood cells was developed. DNA repair analysis (Comet Assay) and radiation-induced apoptosis

  7. Manifestations of radiation syndrome in pigs

    International Nuclear Information System (INIS)

    Kljajic, R.; Masic, Z.; Petrovic, B.; Ciganovic, P.

    1996-01-01

    Clinical and hematological changes in pigs after one-time acute radiation by high-energy-X-rays were described. The of animals was performed by using the linear accelerator of industrial type, with X-rays of 4 MeV, with semi-lethal dose (LD 50/30 = 3.20 Gy) bilaterally (50% of the dose from each side). The radiation syndrome in pigs developed through 4 stages of the disease: the prodromal stadium (1-3 days), the latent stadium (3-7 days), the stadium of expressed clinical symptoms (7-18 days) and the stadium of recovery (after 25 days). The basic characteristic of the disease was a strong haemorrhagic diathesis with expressed blood spots on the skin and bleedings from the nose and the anus as well as a rush decrease of blood dementia (leukocytes and thrombocytes) already 24 hours after radiation. (author)

  8. Pathogenesis and symptomatics of the acute radiation syndrome

    International Nuclear Information System (INIS)

    Fliedner, T.M.; Haen, M.; Carbonell, F.

    1980-01-01

    The pathogenesis and symptomatics of the acute radiation syndrome are discussed. Diagnosis and therapy would be impossible without detailed knowledge in these fields. The concept of acute radiation syndrome is explained, and a pathophysiological analysis of the various forms of radiation syndrome - haematological, intestinal and affecting the central nervous system is attempted. The developments in the diagnosis and therapy of acute radiation syndrome since its first description - 35 years ago - are reviewed. Today, whole-body doses of 100 rd and more can be treated by radiotherapy. (orig./MG) [de

  9. Hematopoietic Acute Radiation Syndrome (Bone marrow syndrome, Aplastic Anemia): Molecular Mechanisms of Radiation Toxicity.

    Science.gov (United States)

    Popov, Dmitri

    Key Words: Aplastic Anemia (AA), Pluripotential Stem Cells (PSC) Introduction: Aplastic Anemia (AA) is a disorder of the pluripotential stem cells involve a decrease in the number of cells of myeloid, erythroid and megakaryotic lineage [Segel et al. 2000 ]. The etiology of AA include idiopathic cases and secondary aplastic anemia after exposure to drugs, toxins, chemicals, viral infections, lympho-proliferative diseases, radiation, genetic causes, myelodisplastic syndromes and hypoplastic anemias, thymomas, lymphomas. [Brodskyet al. 2005.,Modan et al. 1975., Szklo et al. 1975]. Hematopoietic Acute Radiation Syndrome (or Bone marrow syndrome, or Radiation-Acquired Aplastic Anemia) is the acute toxic syndrome which usually occurs with a dose of irradiation between 0.7 and 10 Gy (70- 1000 rads), depending on the species irradiated. [Waselenko et al., 2004]. The etiology of bone morrow damage from high-level radiation exposure results depends on the radiosensitivity of certain bone marrow cell lines. [Waselenko et al. 2004] Aplastic anemia after radiation exposure is a clinical syndrome that results from a marked disorder of bone marrow blood cell production. [Waselenko et al. 2004] Radiation hematotoxicity is mediated via genotoxic and other specific toxic mechanisms, leading to aplasia, cell apoptosis or necrosis, initiation via genetic mechanisms of clonal disorders, in cases such as the acute radiation-acquired form of AA. AA results from radiation injury to pluripotential and multipotential stem cells in the bone marrow. The clinical signs displayed in reticulocytopenia, anemia, granulocytopenia, monocytopenia, and thrombocytopenia. The number of marrow CD34+ cells (multipotential hematopoietic progenitors) and their derivative colony-forming unit{granulocyte-macrophage (CFU-GM) and burst forming unit {erythroid (BFU{E) are reduced markedly in patients with AA. [Guinan 2011, Brodski et al. 2005, Beutler et al.,2000] Cells expressing CD34 (CD34+ cell) are normally

  10. Numerical estimation in individuals with Down syndrome.

    Science.gov (United States)

    Lanfranchi, Silvia; Berteletti, Ilaria; Torrisi, Erika; Vianello, Renzo; Zorzi, Marco

    2014-10-31

    We investigated numerical estimation in children with Down syndrome (DS) in order to assess whether their pattern of performance is tied to experience (age), overall cognitive level, or specifically impaired. Siegler and Opfer's (2003) number to position task, which requires translating a number into a spatial position on a number line, was administered to a group of 21 children with DS and to two control groups of typically developing children (TD), matched for mental and chronological age. Results suggest that numerical estimation and the developmental transition between logarithm and linear patterns of estimates in children with DS is more similar to that of children with the same mental age than to children with the same chronological age. Moreover linearity was related to the cognitive level in DS while in TD children it was related to the experience level. Copyright © 2014. Published by Elsevier Ltd.

  11. Annual individual doses for personnel dealing with ionizing radiation sources

    International Nuclear Information System (INIS)

    Poplavskij, K.K.

    1982-01-01

    Data on annual individual doses for personnel of national economy enterprises, research institutes, high schools, medical establishments dealing with ionizing radiation sources are presented. It is shown that radiation dose for the personnel constitutes only shares of standards established by sanitary legislation. Numeral values of individual doses of the personnel are determined by the type, character and scope of using ionizing radiation sources

  12. Communication Assessment for Individuals with Rett Syndrome: A Systematic Review

    Science.gov (United States)

    Sigafoos, Jeff; Kagohara, Debora; van der Meer, Larah; Green, Vanessa A.; O'Reilly, Mark F.; Lancioni, Giulio E.; Lang, Russell; Rispoli, Mandy; Zisimopoulos, Dimitrios

    2011-01-01

    We reviewed studies that aimed to determine whether behaviors, such as body movements, vocalizations, eye gaze, and facial expressions, served a communicative function for individuals with Rett syndrome. A systematic search identified eight studies, which were summarized in terms of (a) participants, (b) assessment targets, (c) assessment…

  13. Stimulus Characteristics Affect Humor Processing in Individuals with Asperger Syndrome

    Science.gov (United States)

    Samson, Andrea C.; Hegenloh, Michael

    2010-01-01

    The present paper aims to investigate whether individuals with Asperger syndrome (AS) show global humor processing deficits or whether humor comprehension and appreciation depends on stimulus characteristics. Non-verbal visual puns, semantic and Theory of Mind cartoons were rated on comprehension, funniness and the punchlines were explained. AS…

  14. Comparative study of different surrogate markers for individual radiation sensitivity

    International Nuclear Information System (INIS)

    Hoffmann, Nele Julia

    2013-01-01

    Radiotherapy is an important part of therapeutic tumor treatment concept. The applied total dose is limited by the unavoidable radiation effect on the surrounding normal tissue and the risk of radiation induced acute or chronic side effects. The clinical radiation sensitivity, i.e. the risk of radiogenic side effects is strongly coupled to the cellular radiation sensitivity. The contribution is focused on the development of a predictive tool for the individual radiation sensitivity for individual radiotherapeutic planning using lymphocytes. Residual foci, i.e. accumulated repair associated proteins at the residual double strand break are supposed to be surrogate markers of the cellular radiation sensitivity. No relation between the foci detection and the G(0)/G(1) was found assay with respect to the individual radiation sensitivity.

  15. The cutaneous radiation syndrome: diagnosis and treatment; Le syndrome d'irradiation cutane, diagnostic et traitement

    Energy Technology Data Exchange (ETDEWEB)

    Peter, R.U.; Steinert, M.; Gottlober, P. [Ulm Univ., Dept. of Dermatology (Germany)

    2001-12-01

    Accidental exposure to ionising radiation may occur during such catastrophic events as the Chernobyl accident in 1986 or for days and weeks as in Goiania in 1987 and in the military camp during the training of soldiers in Lilo/Georgia in 1997 as well as in medical institutions. The cutaneous symptoms after radiation exposure are based on a combination of inflammatory processes and alteration of cellular proliferation as a result of a specific pattern of transcriptionally activated pro-inflammatory cytokines and growth factors. They follow a time course consisting of prodromal erythema, manifestation, chronic stage, late stage and they are referred to as Cutaneous Radiation Syndrome. The time course depends on several factors such as the applied radiation dose, radiation quality, individual radiation sensitivity, the extent of contamination and absorption and volume of the skin. For diagnostics of the cutaneous radiation syndrome the following procedures are used: 7.5 MHz to 20 MHz-B-scan-sonography, thermography, capillary microscopy, profilometry, nuclear magnetic resonance imaging, bone scintigraphy and histology. Based on the results of experimental and clinical research of the last years pharmacotherapy of the cutaneous radiation syndrome includes topic or systemic application of corticosteroids, gamma-interferon, pentoxifylline and vitamin E and superoxide dismutase. The treatment depends on the stage of the cutaneous radiation syndrome. Due to the complexity of the clinical manifestations of radiation disease in most patients an interdisciplinary treatment in specialized centres is necessary. Dermatologists are asked to perform in most cases life-long therapy and follow-up of the patients. (author)

  16. Blood status in the long-term radiation syndrome

    Directory of Open Access Journals (Sweden)

    Galstyan I.A.

    2013-12-01

    Full Text Available Aims: to reveal regularities of change of peripheral blood indicators in the long-term acute radiation syndrome (ARS depending on its initial severity and existence of various somatic diseases. Material and methods. Clinical he-matologic materials from 114 patients in the long-term ARS (from 1,5 to more than 20 years after radiation accident, developed as a result of gamma beta exposure are presented. Results. In the period of the late radiation effect average values of peripheral blood are in physiological norm limits. However at some patients there are temporary superficial cytopenic conditions (thrombocytopenia — 22,7%, a leukopenia — 12,2%, a neutropenia — 13,1%, a lymphocytope-nia — 10,5%. Conclusion. As a result of a dynamic research it is revealed that in the remote terms of ARS (from 1,5 to more than 20 years after radiation average group levels of erythrocytes, leukocytes, neutrophils and lymphocytes in blood are in limits of physiological norm. However in the individual analysis of a functional state of blood at a part of patients are noted not stable cytopenic states.

  17. Down syndrome and the high background radiation areas of Kerala

    International Nuclear Information System (INIS)

    Jaikrishan, G.; Ramachandran, E.N.; Karuppasamy, C.V.; Sudheer, K.R.; Andrews, V.J.; Soren, D.C.; Anil Kumar, V.; Koya, P.K.M.; Cheriyan, V.D.; Seshadri, M.

    2010-01-01

    Down syndrome (DS) or trisomy-21 is a complex human clinical entity compromising several functional, structural and developmental features with wide variation in expression levels. The diagnosis is confirmed in majority of the cases by an extra dose of chromosome 21 by cytogenetics and occasionally it may be due to either chromosomal translocation or mosaicism (different cell lines in the same individual). The extra chromosome 21 is usually formed by non-disjunction during meiosis and is the most common numerical chromosomal anomaly compatible with life, as chromosome 21 is one of the smallest with relatively fewer genes most of which are reckoned to be non lethal. Though exact causative factors and pathogenesis is not fully understood, a rise in maternal age at conception coupled with deleterious environmental influence on an ageing ovum is a recognized risk factor. The de novo nature of trisomy-21 and its relatively higher frequency makes it a reliable indicator to assess the role of chronic high background radiation in inducing germ line mutation and congenital malformation. Many other relatively common congenital malformations with multifactorial origin may not have this de novo property and associating its incidence with the prevailing natural background radiation become more complex. In vitro studies have shown association between high intensity radiation and genetics effects but such a relationship so far was not established between DS and radiation

  18. The reference individual of radiation protection

    International Nuclear Information System (INIS)

    Eckerman, K.F.; Cristy, M.

    1995-01-01

    The 70-kg open-quotes standard manclose quotes representing a typical Western adult male has been used in physiological models since at least the 1920s. In 1949 at the Chalk River conference, health physicists from the U.S., UK, and Canada agreed on the concept of a standard man to facilitate comparison of internal dose estimates. The 70-kg standard man included specifications of the masses of 25 organs and tissues, total body content of 15 elements, total water intake and output, water content of the body, and some anatomical and physiological data for the respiratory and gastrointestinal tracts. In 1959, in its Publication 2 2 on permissible doses for internal radiation the International Commission on Radiological Protection (ICRP) modified standard man. In 1963 the ICRP established a task group to revise and extend the standard man concept. The name was changed later to Reference Man and the task group's work was published in 1975 as ICRP Publication 23 3 . Publication 23 similar to Publication 2, updates and documents the sources of the data. Data on women, children, and fetuses were also collected, where available, but these data were limited primarily to anatomical data and only a few reference values were established for these groups. Information assembled during the course of the effort on the Reference Man report was used at Oak Ridge National Laboratory (ORNL) to construct a mathematical representation of the body (a phantom) that was suitable for use with Monte Carlo methods in the calculation of organ doses. That effort was undertaken to improve estimates of dose from photon-emitting radionuclides residing within organs, so-called internal emitters. The phantom, although updated throughout the years, remains today as the basis for organ dose estimates in nuclear medicine and radiation protection and underlies the radiation risk data derived from the epidemiologic studies of the atomic bomb survivors of Hiroshima and Nagasaki

  19. Implicit theories concerning the intelligence of individuals with Down syndrome.

    Directory of Open Access Journals (Sweden)

    Claire Enea-Drapeau

    Full Text Available Studies over the past three decades have shown that learning difficulties are not only determined by neurological disorders, but also by motivational and/or socio-cognitive factors Among these factors, implicit theories of intelligence (also referred to as conceptions, mindsets or beliefs about intelligence are key elements. The belief that intelligence is fixed (entity theory, as opposed to malleable (incremental theory, is generally associated with negative teaching practices and poorer student outcomes, yet beliefs about the intelligence of individuals with intellectual disabilities have not received much attention. We propose the first study on conceptions of intelligence of persons with intellectual disabilities, here people with Down syndrome. Participants were 55 professionally qualified people working with individuals with intellectual disabilities and 81 adults from the community. We compared what both groups of participants believe about intelligence of typical people and what they believe about the intelligence of individuals with Down syndrome. We also investigated implicit theories of intelligence as predictors of explicit judgments about intelligence and implicit attitudes toward people with Down syndrome. Whatever the work experience in the field of intellectual disability, implicit theories of intelligence were found to be less incremental when considering people with Down syndrome than when considering typical people; and the stronger the belief in entity theory, the more negative (and less positive the judgments expressed explicitly. Implicit theories of intelligence were also found to be predictors of negative implicit attitude but only in adults from the community. These findings offer prospects for improving practices by people working in the field of intellectual disability. They might interest a wide range of people caring for people with intellectual disabilities, such as teachers, but also other professional caregivers

  20. Implicit theories concerning the intelligence of individuals with Down syndrome.

    Science.gov (United States)

    Enea-Drapeau, Claire; Carlier, Michèle; Huguet, Pascal

    2017-01-01

    Studies over the past three decades have shown that learning difficulties are not only determined by neurological disorders, but also by motivational and/or socio-cognitive factors Among these factors, implicit theories of intelligence (also referred to as conceptions, mindsets or beliefs about intelligence) are key elements. The belief that intelligence is fixed (entity theory), as opposed to malleable (incremental theory), is generally associated with negative teaching practices and poorer student outcomes, yet beliefs about the intelligence of individuals with intellectual disabilities have not received much attention. We propose the first study on conceptions of intelligence of persons with intellectual disabilities, here people with Down syndrome. Participants were 55 professionally qualified people working with individuals with intellectual disabilities and 81 adults from the community. We compared what both groups of participants believe about intelligence of typical people and what they believe about the intelligence of individuals with Down syndrome. We also investigated implicit theories of intelligence as predictors of explicit judgments about intelligence and implicit attitudes toward people with Down syndrome. Whatever the work experience in the field of intellectual disability, implicit theories of intelligence were found to be less incremental when considering people with Down syndrome than when considering typical people; and the stronger the belief in entity theory, the more negative (and less positive) the judgments expressed explicitly. Implicit theories of intelligence were also found to be predictors of negative implicit attitude but only in adults from the community. These findings offer prospects for improving practices by people working in the field of intellectual disability. They might interest a wide range of people caring for people with intellectual disabilities, such as teachers, but also other professional caregivers, and other

  1. Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

    Science.gov (United States)

    Simmonds, Jane V; Herbland, Anthony; Hakim, Alan; Ninis, Nelly; Lever, William; Aziz, Qasim; Cairns, Mindy

    2017-11-10

    To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy. A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data. Qualitative data was analysed thematically. 946 questionnaires were returned and analysed. Participants who received exercise advice from a physiotherapist were 1.75 more likely to report high volumes of weekly exercise (odds ratio [OR] = 1.75, 95% confidence interval [CI] = 1.30-2.36, p Ehlers-Danlos syndrome - hypermobility type in this survey. Implications for rehabilitation Exercise is a cornerstone of treatment for Ehlers-Danlos syndrome/Ehlers-Danlos syndrome - hypermobility type. Pain, fatigue and fear of injury are frequently reported barriers to exercise. Advice from physiotherapists may significantly influence exercise behaviour. Physiotherapists with condition specific knowledge and good verbal and non-verbal communication facilitate a positive therapeutic experience.

  2. Radiation syndrome - pathogenesis, course, diagnostic and therapeutic measures

    International Nuclear Information System (INIS)

    Trott, K.R.

    1981-01-01

    Owing to lack of practical experience, schemes for medical aid in cases of reactor accidents are based on theoretical models and the results of radiation biology and tumor research. The chances for medical assistance are deduced from the course of the radiation syndrome in affected persons. (DG) [de

  3. Chernobyl 1996. New materials concerning acute radiation syndrome around Chernobyl

    International Nuclear Information System (INIS)

    Lupandin, Vladimir M.

    2016-01-01

    In 1996 we have succeeded in getting reliable data on radiation situation in the Khoiniki district. These were data of Civil Defence Headquarters of the Khoiniki district, remaining in private notes of the Chief of the Headquarters. Including the other data or materials, radiation syndromes in particular the acute are described. (J.P.N.)

  4. Effects of hippotherapy on posture in individuals with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Paula Espindula

    Full Text Available Abstract Introduction: Individuals with Down syndrome (DS have alterations that affect the musculoskeletal system, causing abnormal patterns, and alter the morphological anatomical and mechanical axes that provide intrinsic stability to the skeleton, and can trigger misalignments and orthopedic disorders in adulthood. Objective: The objective of student to evaluate posture and postural alignment before and after the hippotherapyin individuals with DS. Methods: Posture of five individuals with DS was evaluated by the software SAPO before and after 27 sessions the hippotherapy. Data were subjected to qualitative descriptive analysis using cluster and statistical analysis with the aid of the software Sigma Stat 2.0, considering differences as statistically significant at p-value < 5%. Results: Improvements were achieved for the alignment of shoulder, head, hip, and lower limbs, in addition to decrease in kyphosis and head protrusion. Conclusion: Patients with DS demonstrated satisfactory changes in motor behavior reflected in improved static posture after treatment with hippotherapy.

  5. Radiation Pressure Measurements on Micron-Size Individual Dust Grains

    Science.gov (United States)

    Abbas, M. M.; Craven, P. D.; Spann, J. F.; Witherow, W. K.; West, E. A.; Gallagher, D. L.; Adrian, M. L.; Fishman, G. J.; Tankosic, D.; LeClair, A.

    2003-01-01

    Measurements of electromagnetic radiation pressure have been made on individual silica (SiO2) particles levitated in an electrodynamic balance. These measurements were made by inserting single charged particles of known diameter in the 0.2- to 6.82-micron range and irradiating them from above with laser radiation focused to beam widths of approximately 175- 400 microns at ambient pressures particle due to the radiation force is balanced by the electrostatic force indicated by the compensating dc potential applied to the balance electrodes, providing a direct measure of the radiation force on the levitated particle. Theoretical calculations of the radiation pressure with a least-squares fit to the measured data yield the radiation pressure efficiencies of the particles, and comparisons with Mie scattering theory calculations provide the imaginary part of the refractive index of SiO2 and the corresponding extinction and scattering efficiencies.

  6. Application of the ALARA principle to individual occupational radiation monitoring

    International Nuclear Information System (INIS)

    Aleinikov, V.E.

    1998-01-01

    Routine individual occupational radiation monitoring is necessary to ensure that exposure are kept as low as reasonably achievable (ALARA) and that the authorized dose limits are not exceeded. The type and extend of the monitoring depend on the nature and magnitude of occupational radiation exposure. Optimal choice of the wearing time for individual dosimeters, T, has important consequences for achievement of the individual monitoring objects. The choice of T depends on individual dose distribution, the lower detection limit for the detector used, the lost of an information during period of monitoring, the cost of the measurements and the benefits associated with the results. The paper describes the application of quantitative optimization techniques to optimize the wearing time for individual dosimeters. It was shown how optimal wearing time for individual dosimeters depends on dose distribution, the lower detection limit, dose limit, fading and cost of the measurements. (author)

  7. AN INDIVIDUALIZED APPROACH TO THE EVALUATION OF CUSHING SYNDROME.

    Science.gov (United States)

    Sharma, Susmeeta T

    2017-06-01

    Cushing syndrome (CS) is caused by chronic exposure to excess glucocorticoids. Early recognition and treatment of hypercortisolemia can lead to decreased morbidity and mortality. The diagnosis of CS and thereafter, establishing the cause can often be difficult, especially in patients with mild and cyclic hypercortisolism. Surgical excision of the cause of excess glucocorticoids is the optimal treatment for CS. Medical therapy (steroidogenesis inhibitors, medications that decrease adrenocorticotropic hormone [ACTH] levels or glucocorticoid antagonists) and pituitary radiotherapy may be needed as adjunctive treatment modalities in patients with residual, recurrent or metastatic disease, in preparation for surgery, or when surgery is contraindicated. A multidisciplinary team approach, individualized treatment plan and long-term follow-up are important for optimal management of hypercortisolemia and the comorbidities associated with CS. ACTH = adrenocorticotropic hormone; BIPSS = bilateral inferior petrosal sinus sampling; CBG = corticosteroid-binding globulin; CD = Cushing disease; CRH = corticotropin-releasing hormone; CS = Cushing syndrome; Dex = dexamethasone; DST = dexamethasone suppression test; EAS = ectopic ACTH syndrome; FDA = U.S. Food & Drug Administration; HDDST = high-dose DST; IPS/P = inferior petrosal sinus to peripheral; MRI = magnetic resonance imaging; NET = neuroendocrine tumor; PET = positron emission tomography; UFC = urinary free cortisol.

  8. Antiradiation Vaccine: Immunological neutralization of Radiation Toxins at Acute Radiation Syndromes.

    Science.gov (United States)

    Popov, Dmitri; Maliev, Slava

    Introduction: Current medical management of the Acute Radiation Syndromes (ARS) does not include immune prophylaxis based on the Antiradiation Vaccine. Existing principles for the treatment of acute radiation syndromes are based on the replacement and supportive therapy. Haemotopoietic cell transplantation is recomended as an important method of treatment of a Haemopoietic form of the ARS. Though in the different hospitals and institutions, 31 pa-tients with a haemopoietic form have previously undergone transplantation with stem cells, in all cases(100%) the transplantants were rejected. Lethality rate was 87%.(N.Daniak et al. 2005). A large amount of biological substances or antigens isolated from bacterias (flagellin and derivates), plants, different types of venom (honeybees, scorpions, snakes) have been studied. This biological active substances can produce a nonspecific stimulation of immune system of mammals and protect against of mild doses of irradiation. But their radioprotection efficacy against high doses of radiation were not sufficient. Relative radioprotection characteristics or adaptive properties of antioxidants were expressed only at mild doses of radiation. However antioxidants demonstrated a very low protective efficacy at high doses of radiation. Some ex-periments demonstrated even a harmful effect of antioxidants administered to animals that had severe forms of the ARS. Only Specific Radiation Toxins roused a specific antigenic stim-ulation of antibody synthesis. An active immunization by non-toxic doses of radiation toxins includes a complex of radiation toxins that we call the Specific Radiation Determinant (SRD). Immunization must be provided not less than 24 days before irradiation and it is effective up to three years and more. Active immunization by radiation toxins significantly reduces the mortality rate (100%) and improves survival rate up to 60% compare with the 0% sur-vival rate among the irradiated animals in control groups

  9. Effect of endotoxin on radiation syndrome - a review

    Energy Technology Data Exchange (ETDEWEB)

    Hlouskova, D; Zak, M

    1979-01-01

    A review is given of studies on the effect of endotoxin on postirradiation syndrome. Recent knowledge is summed up on the compositions of endotoxins and on their general biological effects. Endotoxins of different bacteria are discussed such as are utilized for favourably affecting the postirradiation syndrome. For each bacterium the classification is shown in the microbe system. This, however, is not standard in the literature. General assessment is made of studies published so far on radiation protection of organisms with endotoxins.

  10. Diagnosis of 20 cases with chronic radiation syndrome

    International Nuclear Information System (INIS)

    Zhang, Hongshou; Shen, Zhezhong; Wen Zhigen; Xie, Xiaoping; Ni, Jinxian

    1984-01-01

    Twenty cases with chronic radiation syndrome were diagnosed in our department during 1957-1980. All except one were radiologists, and eight of them had worked in radiological departments for over 20 years. Owing to the use of out-dated x-ray machines as well as radium sources without adequate protection, all these cases were apparently overexposed to radiation. They presented following signs and symptoms of chronic radiation syndrome: excitability, palpitation, fatigue, general weakness, loss of weight, oversweating accompanied by tendency of lowered metabolism, peripheral blood cell changes, and chromosome aberrations. The diagnosis of this syndrome was based on definitive professional and over-exposure history, clinical picture and abnormal laboratory findings. (author)

  11. Behavioural Flexibility in Individuals with Angelman Syndrome, Down Syndrome, Non-Specific Intellectual Disability and Autism Spectrum Disorder

    Science.gov (United States)

    Didden, R.; Sigafoos, J.; Green, V. A.; Korzilius, H.; Mouws, C.; Lancioni, G. E.; O'Reilly, M. F.; Curfs, L. M. G.

    2008-01-01

    Background: Little is known about behavioural flexibility in children and adults with Angelman syndrome and whether people with this syndrome have more or less problems in being behaviourally flexible as compared with other people. Method: Behavioural flexibility scores were assessed in 129 individuals with Angelman syndrome using 11 items from…

  12. A Trial of Metformin in Individuals With Fragile X Syndrome

    Science.gov (United States)

    2018-04-10

    Fragile X Syndrome; Fragile X Mental Retardation Syndrome; Mental Retardation, X Linked; Genetic Diseases, X-Linked; Trinucleotide Repeat Expansion; Fra(X) Syndrome; Intellectual Disability; FXS; Neurobehavioral Manifestations; Sex Chromosome Disorders

  13. Alternative Therapeutic Intervention for Individuals with Rett Syndrome

    Directory of Open Access Journals (Sweden)

    Meir Lotan

    2007-01-01

    Full Text Available The individual with Rett syndrome (RS displays an array of challenging difficulties in all areas of daily living. Since there is no cure for the disorder at this moment, parents of the individual with Rett search for different interventional modalities that will improve the condition and quality of life for their child. During the last few years, many individuals with RS have experienced different kinds of interventions. This paper presents these methods with relevant case stories for others to share the possibilities. This paper reviews the following interventions: animal-assisted therapy, such as dolphin therapy and dog-assisted therapy; auditory integration training; hyperbaric chamber; manual therapy, such as acupuncture/acupressure, aromatherapy, craniosacral therapy, Mayo facial release, Treager massage, chiropractor, and Reiki; mental modification techniques, such as Lovas and cognitive rehabilitation; motoric interventions, such as advanced biomechanical rehabilitation, patterning/Doman-DeLacato approach, and yoga. The present paper is not a recommendation for any of the above-mentioned techniques, but merely a review of different interventions available for the inquisitive parent of the individual with RS.

  14. Significance of genetic predisposition and genomic instability for individual sensitivity to radiation. Implications for radiation protection

    International Nuclear Information System (INIS)

    Heller, H.

    2001-01-01

    At its closed-door meeting on 20/21 January 2000 the Radiation Protection Committee dedicated much of its attention to the significance of genetic predisposition and genetic instability for individual radiation sensitivity and to the implication of this for radiation protection. The statements and contributions to the closing plenary discussion touched on many aspects of ethics, personal rights, occupational medicine and insurance issues relating to this subject, all of which extend far beyond the purely technical issues of radiation protection. The present volume contains the lecture manuscripts of the meeting as well as a summarising assessment by the Radiation Protection Committee [de

  15. Developing diagnostic guidelines for the acute radiation syndrome

    International Nuclear Information System (INIS)

    Densow, D.; Fliedner, T.M.; Kindler, H.

    1996-01-01

    Diagnostic guidelines seem to be promising for improving medical care. One aspect of a diagnostic guideline for the acute radiation syndrome has been tested against an extensive case history database. Subsequently, the guideline has been optimized for a small set of case histories. The improved performance has been proven by a test against the rest of the case history database

  16. Eyewitness recall and suggestibility in individuals with Down syndrome.

    Science.gov (United States)

    Collins, D; Henry, L

    2016-12-01

    Many criminal justice professionals perceive the eyewitness skills of individuals with intellectual disabilities to be weaker than those of typically developing (TD) individuals. Down syndrome (DS) is one of the most common genetic causes of intellectual disabilities, yet there is no research addressing eyewitness skills in this population. This study examined the eyewitness recall and suggestibility of young people with DS. Young people with DS and mental age-matched TD children viewed a video of a non-violent petty crime and were subsequently asked to freely recall the event before being asked general and specific questions incorporating both misleading and non-leading prompts. Compared with mental age-matched TD individuals, young people with DS produced as much information, were just as accurate and were no more suggestible. The eyewitness memory skills of young people with DS are comparable to those of mental age-matched TD children. The implications of these findings for the forensic context and eyewitness memory are discussed. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  17. Improving Memory and Cognition in Individuals with Down Syndrome.

    Science.gov (United States)

    Rafii, Michael S

    2016-07-01

    Down syndrome (DS), often due to trisomy 21, is the most common genetic cause of intellectual disability (ID). In addition, virtually all individuals with DS develop the neuropathology of Alzheimer's disease (AD) by the age of 40 years and almost 60 % will manifest symptoms of AD dementia by the age of 65 years. Currently, there are no pharmacological treatments available for ID in individuals with DS and only limited symptomatic treatments for AD dementia. Advances in our understanding in both the molecular basis of ID and the pathogenesis of AD have created opportunities to study potential therapeutic targets. Recent studies in animal models of DS continue to provide a rational basis for translating specific compounds into human clinical trials. However, target and compound selection are only initial steps in the drug development pathway. Other necessary considerations include appropriate study designs to assess efficacy in the DS population, as well as operational aspects specifically tailored to assess cognition in this population. We discuss recent progress in the development of compounds for both ID and AD in individuals with DS, as well as concepts for the design and conduct of clinical trials with such compounds.

  18. Postprandial Monocyte Activation in Individuals With Metabolic Syndrome

    Science.gov (United States)

    Khan, Ilvira M.; Pokharel, Yashashwi; Dadu, Razvan T.; Lewis, Dorothy E.; Hoogeveen, Ron C.; Wu, Huaizhu

    2016-01-01

    Context: Postprandial hyperlipidemia has been suggested to contribute to atherogenesis by inducing proinflammatory changes in monocytes. Individuals with metabolic syndrome (MS), shown to have higher blood triglyceride concentration and delayed triglyceride clearance, may thus have increased risk for development of atherosclerosis. Objective: Our objective was to examine fasting levels and effects of a high-fat meal on phenotypes of monocyte subsets in individuals with obesity and MS and in healthy controls. Design, Setting, Participants, Intervention: Individuals with obesity and MS and gender- and age-matched healthy controls were recruited. Blood was collected from participants after an overnight fast (baseline) and at 3 and 5 hours after ingestion of a high-fat meal. At each time point, monocyte phenotypes were examined by multiparameter flow cytometry. Main Outcome Measures: Baseline levels of activation markers and postprandial inflammatory response in each of the three monocyte subsets were measured. Results: At baseline, individuals with obesity and MS had higher proportions of circulating lipid-laden foamy monocytes than controls, which were positively correlated with fasting triglyceride levels. Additionally, the MS group had increased counts of nonclassical monocytes, higher CD11c, CX3CR1, and human leukocyte antigen-DR levels on intermediate monocytes, and higher CCR5 and tumor necrosis factor-α levels on classical monocytes in the circulation. Postprandial triglyceride increases in both groups were paralleled by upregulation of lipid-laden foamy monocytes. MS, but not control, subjects had significant postprandial increases of CD11c and percentages of IL-1β+ and tumor necrosis factor-α+ cells in nonclassical monocytes. Conclusions: Compared to controls, individuals with obesity and MS had increased fasting and postprandial monocyte lipid accumulation and activation. PMID:27575945

  19. International conference on individual monitoring of ionising radiation

    International Nuclear Information System (INIS)

    Vanhavere, Filip

    2016-01-01

    This special issue of the journal Radiation Protection Dosimetry is dedicated to the Proceedings of the International Conference on Individual Monitoring of Ionising Radiation (IM2015), which is the fifth of a series of conferences dealing with individual monitoring. This conference series is initiated by EURADOS, the European Radiation Dosimetry Group, and is organised every 5 years. In 2015, the conference was jointly organised by the Belgian Nuclear Research Centre (SCK.CEN), AV Controlatom, and the Vrije Universiteit Brussel. It brought together scientists from regulatory authorities, individual monitoring services (IMS), research bodies, European networks and companies, for the purpose of facilitating the dissemination of knowledge, exchanging experiences and promoting new ideas in the field of individual monitoring. After the conference, 124 papers were submitted for publication in these peer-reviewed proceedings. From these, 103 were finally accepted for publication. The help of the numerous referees and the guest editors is very much appreciated. These proceedings provide a full image of the IM2015 conference. The high-level publications will be useful to improve the state of individual monitoring all over the world and aim to inspire many scientists to continue their work on a better monitoring of radiologically exposed workers

  20. Cutaneous Radiation Syndrome : Review of Assessment and Management

    International Nuclear Information System (INIS)

    El-Shanshoury, H.

    2016-01-01

    The cutaneous radiation syndrome (CRS) refers to a number of pathologies that may become a manifest after exposure of the skin to ionizing radiation. Signs and symptoms of the CRS appear within hours of exposure; however, the development of lesions can take days to years. The latent period for the manifestation of a specific pathology depends on the characteristics of the target cells responsible for the development of that lesion and the dose of radiation delivered to those target cells. The intensity and duration of the lesions are also dose dependent. Since the depth dose distribution of a radiation source depends on the radiation quality, the development of a specific lesion, its intensity and its duration is also expected to vary with radiation quality. The Cars may appear as an isolated lesion or as a number of lesions occurring simultaneously or over different time scales. In dealing with the cutaneous tissues, the concept of dose is meaningless unless it is associated with a reference depth dose distribution to indicate the level of injury to specific target cells. Large radiation doses to the skin can cause permanent hair loss, damaged sebaceous and sweat glands, atrophy, fibrosis decreased or increased skin pigmentation, and ulceration or necrosis of the exposed tissue. However, similar lesions may develop later after much lower doses. Death from the cutaneous syndrome could result in days or longer, depending on other conditions, such as dose rate, medical care and size of injury

  1. Radiation Pressure Measurements on Micron Size Individual Dust Grains

    Science.gov (United States)

    Abbas, M. M.; Craven, P.D.; Spann, J. F.; Tankosic, D.; Witherow, W. K.; LeClair, A.; West, E.; Sheldon, R.; Gallagher, D. L.; Adrian, M. L.

    2003-01-01

    Measurements of electromagnetic radiation pressure have been made on individual silica (SiO2) particles levitated in an electrodynamic balance. These measurements were made by inserting single charged particles of known diameter in the 0.2 micron to 6.82 micron range and irradiating them from above with laser radiation focused to beam-widths of approx. 175-400 micron, at ambient pressures approx. 10(exp -3) to 10(exp -4) torr. The downward displacement of the particle due to the radiation force is balanced by the electrostatic force indicated by the compensating dc potential applied to the balance electrodes, providing a direct measure of the radiation force on the levitated particle. Theoretical calculations of the radiation pressure with a least-squares fit to the measured data yield the radiation pressure efficiencies of the particles, and comparisons with Mie scattering theory calculations provide the imaginary part of the refractive index of silica and the corresponding extinction and scattering efficiencies.

  2. EVIDOS: Individual dosimetry in mixed neutron and photon radiation fields

    International Nuclear Information System (INIS)

    Vanhavere, F.

    2006-01-01

    The EVIDOS project (partly funded by the European Commission RTD Programme: Nuclear Energy, Euratom Framework Programme V, 1998-2002, Contract No FIKR-CT-2001-00175) aimed at improving individual monitoring in mixed neutron-photon radiation fields by evaluating the performance of routine and novel personal dosimeters for mixed radiation, and by giving guidelines for deriving sufficiently accurate values of personal dose equivalent from the readings of area survey instruments and dosimeters. The main objective of EVIDOS was to evaluate different methods for individual dosimetry in mixed neutron-photon work-places in nuclear industry. This implied a determination of the capabilities and limitations of personal dosimeters and the establishment of methods to enable sufficiently accurate values of personal dose equivalent from spectrometers, area survey instruments and routine personal dosimeters. Also novel electronic personal dosimeters were investigated. To this end spectrometric and dosimetric investigations in selected representative workplaces in nuclear industry where workers can receive significant neutron doses were performed. As part of this project, a number of tasks were executed, in particular: (1) the determination of the energy and direction distribution of the neutron fluence; (2) the derivation of the (conventionally true) values of radiation protection quantities; (3) the determination of the readings of routine and innovative personal dosimeters and of area monitors; and (4) the comparison between dosimeter readings and values of the radiation protection quantities

  3. Radiation Protection Procedures to Individuals According to Situations

    International Nuclear Information System (INIS)

    Gomaa, M.A.

    2008-01-01

    The new recommendations of the International Commission for Radiological Protection (ICRP) had been adopted in March 2007. Historically, the first main ICRP recommendations were adopted in 1976. Hence, IAEA issued its publication (safety series no 9) entitled Basic safety standards for radiation protection, EU issued its legislative directive. Furthermore, U K issued its 1985 Ionizing Radiation Regulations . These recommendations were based upon system of dose limitation (justification, optimization and annual dose limits and Four types of exposures (occupational, medical, public and planned special exposure) The second main ICRP recommendations were adopted in 1990. Hence, IAEA together with other international organizations issued its publication (safety series no 115) entitled International Basic Safety Standards for protection against ionizing radiation and safety of radiation sources in 1996. Furthermore, EU issued its new legislative directive and UK issued its updated Ionizing radiation regulations in 1999. These recommendations based upon two systems of protection, these are system of protection in practice and system of protection in intervention. The new ICRP or 2007 recommendations is based upon situations 1- Planned situations, 2- Emergency situations, and 3- Existing situations. The 2007 recommendations rely also on Individuals 1- Occupational, 2- Public and 3- Patient and Furthermore, elements of Radiation Protection system are 1- Justification, 2- Optimization and 3- Dose limits. Updated numerical values for radiation weighting factors for proton is 2 instead of 5 and for neutron , its continuous function instead of discrete values . New numerical values for tissue weighting factors include value of 8% for Gonads instead of 20%. The recommended nominal probability is around 5 per cSv. IAEA as well other international organization are updating its Basic Safety Standards . National regulations shall also be updated accordingly

  4. Values of dose and individual of a individual thermoluminescent dosimeter submitted to x and gamma radiations

    International Nuclear Information System (INIS)

    Moraes, Cassiana Viccari de; Pela, Carlos Alberto

    2001-01-01

    The individual monitoring provides information for the control of exposures, and estimates the dose received by individuals. This is an essential tool in personal dosimetry. It's based on a radiation protection concept, allowing an individual exposure control, besides guaranteeing that the dose restrictions will not be exceeded. Usually, the dose monitoring is performed by using an individual dosemeter placed on a representative position of the most exposed point on the thoracic surface. The dosemeter, which is analyzed in the present work, is made of three CaSO 4 -Dy thermoluminescent detectors, plastic filters, copper and copper-lead, mounted in an acrylic support. The dose received by on each detector, which forms the dosemeter, is related according to their energetic curve dependence. The dose amount is calculated from these curves by using an algorithm, and it was taken in to consideration the detector calibration and thermoluminescent responses, due to the x and g radiation exposure. That algorithm has the capacity to determine the energies that were irradiated the detector. Therefore, to aid the service in the moment of evaluate the dose received by the individual and where it is coming from. The algorithm has provided individual dose value H x , defined as operational quantity for photons adopted in the Brazilian Metric System. The algorithm can determine two dose values and such values have been analyzed according to the kind of irradiated energy on the dosimeter and it has shown that both values are within established limits by Instituto de Radioprotecao e Dosimetria (IRD). (author)

  5. A review of Down's syndrome studies and ionizing radiation

    International Nuclear Information System (INIS)

    Rose, K.S.B.

    1994-01-01

    This review collates results from 3 high dose (> 0.1 Gy) and 23 low dose epidemiological studies of parental radiation exposure and Down's syndrome incidence. A pattern of consistent results appears in 13 studies of irradiation received by women for diagnostic purposes. The pattern is an increase in Down's syndrome, the increase being approximately equivalent to an ovarian doubling dose of 20 mGy. The value is definitely not compatible with results from the high dose studies. Results from the other 10 low dose studies were used to test this value but most proved to be unsuitable for a variety of reasons. However, no associations between levels of high natural background and Down's syndrome have been observed in either New England or Aberdeen, which are areas in developed countries where reliable statistics ar collected. (author)

  6. Serum myostatin is reduced in individuals with metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Der-Sheng Han

    Full Text Available Myostatin is a negative regulator of skeletal muscle mass and may also modulate energy metabolism secondarily. We aim to investigate the relationship between serum myostatin and the metabolic variables in diabetic (DM and non-diabetic subjects.A cross-sectional study recruiting 246 consecutive DM patients and 82 age- and gender-matched non-diabetic individuals at a medical center was conducted. The variables of anthropometry and blood chemistry were obtained. Serum myostatin level was measured with enzyme immunoassay.DM group had lower serum myostatin compared with non-diabetics (7.82 versus 9.28 ng/ml, p<0.01. Sixty-two percent of the recruited individuals had metabolic syndrome (MetS. The patients with MetS had significantly lower serum myostatin than those without (7.39 versus 9.49 ng/ml, p<0.001. The serum myostatin level decreased with increasing numbers of the MetS components (p for trend<0.001. The patients with higher body mass index, larger abdominal girth, lower high-density lipoprotein cholesterol (HDL-C, and higher triglycerides had lower serum myostatin than those without. The serum myostatin level was independently negatively related to larger abdominal girth, higher triglycerides, and lower HDL-C after adjustment. The odds ratios for MetS, central obesity, low HDL-C, high triglycerides, and DM were 0.85, 0.88, 0.89, 0.85, and 0.92, respectively, when serum myostatin increased per 1 ng/mL, in the binary logistic regression models.Lower serum myostatin independently associated with MetS, central obesity, low HDL-C, and high triglycerides after adjustment. Higher serum myostatin is associated with favorable metabolic profiles.

  7. Hubungan Antara Faktor Risiko Individual Dan Komputer Terhadap Kejadian Computer Vision Syndrome

    OpenAIRE

    Azkadina, Amira; Julianti, Hari Peni; Pramono, Dodik

    2012-01-01

    Background : Computer USAge could cause health complaints called Computer Vision Syndrome (CVS). This syndrome was influenced by individual and computer risk factors. The objective of the study is to identify and to analyze individual and computer factors of Computer Vision Syndrome (CVS).Method : The study was an observational study by using case control method, which was held on May-June 2012 in RSI Sultan Agung, RSUP dr.Kariadi, and Bank Jateng. The samples were 60 people who were chosen b...

  8. Hematological observations on two cases of acute radiation syndrome

    International Nuclear Information System (INIS)

    Jiang Benrong; Wang Guilin; Huang Shimin

    1990-01-01

    The hematological changes of two cases of acute radiation syndrome were observed. The physical doses of patients Liang and Yan were 3.5 Gy and 2.6 Gy respectively. According to the changes in WBC and platelet counts and the absolute count of lymphocytes and in comparison with the hematological data of the victims of Y-12 accident in USA in 1958 and those of previous accidents in China, Liang suffered from a moderate or moderate to severe degree, and Yan suffered from a moderate or moderate mild degree of hemopoietic form of acute radiation syndrome. This estimation was consistent with their clinical course and physical doses. Some blood cells appeared in the cytoplasm of megakaryocytes in bone marrow smears of those two cases. The mechanism of this phenomenon is discussed and its clinical significance remains to be studied

  9. Overview of Brazilian industrial radiography accidents with cutaneous radiation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lima, C.M.A.; Silva, F.C.A. da, E-mail: dasilva@ird.gov.br [Instituto de Radioproteção e Dosimetria (IRD/CNEN-RJ), Rio de Janeiro, RJ (Brazil)

    2017-07-01

    It is well documented that industrial radiography is related to radiological accidents, which makes it the highest potential risk for human health. More than 80 radiological accidents happened in the world that includes 6 Brazilian accidents with Cutaneous Radiation Syndrome. Five of them happened with {sup 192}Ir and one with {sup 60}Co radioactive sources. Nineteen members of the public and 8 radiographers were involved. All of them suffered severe hands and fingers injuries. The Brazilian radiological accident happened in 1985 with 16 persons is analyzed showing causes, consequences, radiation doses and lessons learned. (author)

  10. Overview of Brazilian industrial radiography accidents with cutaneous radiation syndrome

    International Nuclear Information System (INIS)

    Lima, C.M.A.; Silva, F.C.A. da

    2017-01-01

    It is well documented that industrial radiography is related to radiological accidents, which makes it the highest potential risk for human health. More than 80 radiological accidents happened in the world that includes 6 Brazilian accidents with Cutaneous Radiation Syndrome. Five of them happened with 192 Ir and one with 60 Co radioactive sources. Nineteen members of the public and 8 radiographers were involved. All of them suffered severe hands and fingers injuries. The Brazilian radiological accident happened in 1985 with 16 persons is analyzed showing causes, consequences, radiation doses and lessons learned. (author)

  11. Role of Verbal Memory in Reading Text Comprehension of Individuals with Down Syndrome

    Science.gov (United States)

    Levorato, Maria Chiara; Roch, Maja; Florit, Elena

    2011-01-01

    This study analyzed the relationship between verbal memory and reading text comprehension in individuals with Down syndrome. The hypothesis that verbal memory provides unique contribution to reading text comprehension after controlling for verbal skills was tested. Twenty-three individuals with Down syndrome (ages 11 years, 2 months-18 years, 1…

  12. Acute radiation sickness - morphology of CNS syndrome

    International Nuclear Information System (INIS)

    Kamarad, V.

    1989-01-01

    The effect was studied of supralethal doses of 60 Co gamma radiation on morphological changes in the brains of laboratory animals. For experiments, female rats irradiated with doses of 15 to 960 Gy, female mice irradiated with doses of 50 to 300 Gy and dogs irradiated with 6 to 500 Gy were used. For evaluation of the changes, light microscopy, electron microscopy and histochemistry were employed. The findings generally agreed with the results by other authors whose numerous studies are reviewed in detail. They included brain edema, alterations in enzyme activities, dystrophic changes and hemorrhages in nerve cells, marked structural changes in blood capillaries, damage of endothelial cells, etc. The observed changes in the activities of blood-brain barrier enzymes, increased pinocytotic activity and the formation of endothelial tunnels accompanied with necrosis of part of endothelial cells are clear morphological manifestations of marked alterations in the function of the blood-brain barrier that result in brain edema development. The increased permeability of the blood-brain barrier significantly worsens primary changes induced by radiation, especially in nerve cels, and adversely affects possible repair processes. (L.O.). 146 figs., 8 tabs., 352 refs

  13. Education and training issues in individual monitoring of ionising radiation

    International Nuclear Information System (INIS)

    Dimitriou, P.; Kamenopoulou, V.

    2011-01-01

    The present article deals with the education and training (E and T) issues of individual monitoring (IM) of ionising radiation, based on the requirements provided by the Basic Safety Standards EURATOM Directive and the European Commission Technical Recommendations for IM of external radiation. The structure and the objectives of E and T programmes addressed to the staff of dosimetry services, in order to allow the recognition and ensure the continuity of expertise are discussed. The necessity for the establishment of a national strategy for building competence in IM through information, education, training and retraining programmes, addressed to the individually monitored personnel is underlined. The train the trainers' concept is recognised as being an important tool for optimising resources and transferring the skills necessary for building competence. The conditions under which an efficient train the trainers' approach can be established are discussed. Examples of curricula concerning the key persons involved in the provision of E and T in occupational radiation protection are also given. (authors)

  14. Quality assurance in individual monitoring of ionizing radiation

    International Nuclear Information System (INIS)

    Julius, H.W.

    1988-01-01

    In todays world, where competition gets tougher, there is a growing consciousness of Quality Assurance (QA) and Quality Control (QC) being key elements to success. This does not only apply o manufacturing of industrial products, it is equally true for public services. Because of the increasing awareness in our modern societies of the quality of life and hence of optimal health care and general safety, it is also the general public that calls for 'products' of the highest possible quality. Good examples of the latter are the continuously improving safety standards for automobiles, for medical diagnostic imaging and for the working environment. Therefore, QA unquestionably plays a vital role in individual monitoring of ionizing radiation, especially since the media talked so many into some sort of radiation phobia. In the following an attempt is made to roughly outline some aspects that may come into play if QA is applied to routine personnel dosimetry. The author wants to emphasize that the subject, which has hardly been dealt with in the professional literature on radiation dosimetry, is a rather 'soft' one. There may be a large number of different approaches to QA, depending on special local situations and individual - sometimes national - views. It should therefore be considered as a general guide, provided in the form of (check)lists containing items of interest in routine monitoring

  15. Sibling relationships in individuals with Angelman syndrome: A comparative study

    NARCIS (Netherlands)

    Love, V.; Richters, L.P.H.; Didden, H.C.M.; Korzilius, H.P.L.M.; Machalicek, W.A.

    2012-01-01

    Objective: Investigating the impact of Angelman syndrome on the sibling relationship. Methods: This study explored differences in sibling relationships between children with a typically-developing sibling (n = 55) and children with a sibling with Angelman syndrome (n 44). Sibling relationships were

  16. Individual-based model for radiation risk assessment

    Science.gov (United States)

    Smirnova, O.

    A mathematical model is developed which enables one to predict the life span probability for mammals exposed to radiation. It relates statistical biometric functions with statistical and dynamic characteristics of an organism's critical system. To calculate the dynamics of the latter, the respective mathematical model is used too. This approach is applied to describe the effects of low level chronic irradiation on mice when the hematopoietic system (namely, thrombocytopoiesis) is the critical one. For identification of the joint model, experimental data on hematopoiesis in nonirradiated and irradiated mice, as well as on mortality dynamics of those in the absence of radiation are utilized. The life span probability and life span shortening predicted by the model agree with corresponding experimental data. Modeling results show the significance of ac- counting the variability of the individual radiosensitivity of critical system cells when estimating the radiation risk. These findings are corroborated by clinical data on persons involved in the elimination of the Chernobyl catastrophe after- effects. All this makes it feasible to use the model for radiation risk assessments for cosmonauts and astronauts on long-term missions such as a voyage to Mars or a lunar colony. In this case the model coefficients have to be determined by making use of the available data for humans. Scenarios for the dynamics of dose accumulation during space flights should also be taken into account.

  17. The modes of death in mammals exposed to whole body radiation (acute radiation syndromes)

    International Nuclear Information System (INIS)

    Santos, O.R. dos.

    1990-07-01

    When an animal is exposed to a sufficient amount of radiation, there will be changes in many organs of the body, and as a result of either the effects in one particular organ or the interaction of effects in several organs, the animal as a whole will show characteristic syndromes. Some syndromes result inevitably in death. Others may or may not be lethal, depending on the extent of the tissue damage. The time of appearance of the syndromes, their duration, and the survival of the organism depend on many factors. Whole body acute doses of radiation produce the same spectrum of Central Nervous System (CNS), Gastrointestinal (GI) and Bone Marrow (BM) injury in man as was described for animals. Damage to the skin, ovary and testis are an integral and important part of the symptoms. (author) [pt

  18. Cerebrovascular Acute Radiation Syndrome : Radiation Neurotoxins, Mechanisms of Toxicity, Neuroimmune Interactions.

    Science.gov (United States)

    Popov, Dmitri; Maliev, Slava

    Introduction: Cerebrovascular Acute Radiation Syndrome (CvARS) is an extremely severe in-jury of Central Nervous System (CNS) and Peripheral Nervous System (PNS). CvARS can be induced by the high doses of neutron, heavy ions, or gamma radiation. The Syndrome clinical picture depends on a type, timing, and the doses of radiation. Four grades of the CvARS were defined: mild, moderate, severe, and extremely severe. Also, four stages of CvARS were developed: prodromal, latent, manifest, outcome -death. Duration of stages depends on the types, doses, and time of radiation. The CvARS clinical symptoms are: respiratory distress, hypotension, cerebral edema, severe disorder of cerebral blood microcirculation, and acute motor weakness. The radiation toxins, Cerebro-Vascular Radiation Neurotoxins (SvARSn), determine development of the acute radiation syndrome. Mechanism of action of the toxins: Though pathogenesis of radiation injury of CNS remains unknown, our concept describes the Cv ARS as a result of Neurotoxicity and Excitotoxicity, cell death through apoptotic necrosis. Neurotoxicity occurs after the high doses radiation exposure, formation of radiation neuro-toxins, possible bioradicals, or group of specific enzymes. Intracerebral hemorrhage can be a consequence of the damage of endothelial cells caused by radiation and the radiation tox-ins. Disruption of blood-brain barrier (BBB)and blood-cerebrospinal fluid barrier (BCFB)is possibly the most significant effect of microcirculation disorder and metabolic insufficiency. NMDA-receptors excitotoxic injury mediated by cerebral ischemia and cerebral hypoxia. Dam-age of the pyramidal cells in layers 3 and 5 and Purkinje cell layer the cerebral cortex , damage of pyramidal cells in the hippocampus occur as a result of cerebral ischemia and intracerebral bleeding. Methods: Radiation Toxins of CV ARS are defined as glycoproteins with the molec-ular weight of RT toxins ranges from 200-250 kDa and with high enzymatic activity

  19. Bio-dosimetry for radiation-exposed individuals

    International Nuclear Information System (INIS)

    Sauvaigo, Sylvie; Chapuis, Violaine; Caillat, Sylvain; Sarrazy, Fanny; Breton, Jean

    2013-01-01

    Exposure of civil populations to genotoxic chemicals or radioactive hazard is an increased concern. It is not only an industrial risk (chemistry plant accident for example) but also a national security problem due to the threat of radiological and nuclear terrorism. It is important to anticipate the need of a bio-dosimetry tool aimed at identifying exposed population in the absence of acute syndrome, in order to assure the medical care that would prevent carcinogenic consequences. DNA repair is a bio-marker of exposure to geno-toxics in individuals. A DNA repair signature can be assessed from Peripheral Blood Mononuclear Cells (PBMCs) that reflects the exposure history of the individuals, using a functional enzymatic assay on bio-chip. A proof of concept was obtained using PBMCs from patients undergoing radiotherapy regimen. We identified two classes of responses among patients, if we except a very atypical signature in one patient that could reflect defects in DNA repair. Interestingly, repair of the major oxidative lesions increased during the course of the radiotherapy. We propose to implement this fast, quantitative, possibly automatized assay to identify bio-markers of exposure to geno-toxics and to validate the exposure bio-markers through ex vivo exposure of blood from volunteers. (authors)

  20. The metabolic vascular syndrome - guide to an individualized treatment.

    Science.gov (United States)

    Hanefeld, Markolf; Pistrosch, Frank; Bornstein, Stefan R; Birkenfeld, Andreas L

    2016-03-01

    In ancient Greek medicine the concept of a distinct syndrome (going together) was used to label 'a group of signs and symptoms' that occur together and 'characterize a particular abnormality and condition'. The (dys)metabolic syndrome is a common cluster of five pre-morbid metabolic-vascular risk factors or diseases associated with increased cardiovascular morbidity, fatty liver disease and risk of cancer. The risk for major complications such as cardiovascular diseases, NASH and some cancers develops along a continuum of risk factors into clinical diseases. Therefore we still include hyperglycemia, visceral obesity, dyslipidemia and hypertension as diagnostic traits in the definition according to the term 'deadly quartet'. From the beginning elevated blood pressure and hyperglycemia were core traits of the metabolic syndrome associated with endothelial dysfunction and increased risk of cardiovascular disease. Thus metabolic and vascular abnormalities are in extricable linked. Therefore it seems reasonable to extend the term to metabolic-vascular syndrome (MVS) to signal the clinical relevance and related risk of multimorbidity. This has important implications for integrated diagnostics and therapeutic approach. According to the definition of a syndrome the rapid global rise in the prevalence of all traits and comorbidities of the MVS is mainly caused by rapid changes in life-style and sociocultural transition resp. with over- and malnutrition, low physical activity and social stress as a common soil.

  1. Experimental treatment of gastrointestinal radiation syndrome in dogs

    International Nuclear Information System (INIS)

    Mao Bingzhi; Chen Dezheng; Liu Zuobin

    1986-01-01

    Gastrointestinal radiation syndrome occurred in 27 mongrel dogs irradiated with 9-12 Gy of 60 Co γ-rays. Six of them received autologous bone marrow transplantation (auto-BMT), 10 animals were treated with symptomatic and supportive measures only, and the remaining 11 dogs served as controls without any treatment. All animals of the latter two groups died between 3 and 11 days after irradiation without any evidence of hematopoietic recovery. Recovery of gastrointestinal injury was found in 7 dogs treated with symptomatic and supportive measures only. Of 6 dogs having received auto-BMT 2 died 15 days after irradiation, 3 survived over 30 days with recovery of gastrointestinal and hematopoietic injury but died of distemper later, and the other one, still alive, has survived for more than 4 years. The results show that the effective measures for gastrointestinal radiatin syndrome are BMT and symptomatic therapy

  2. Medical Management of Acute Radiation Syndromes : Immunoprophylaxis by Antiradiation Vaccine

    Science.gov (United States)

    Popov, Dmitri; Maliev, Vecheslav; Jones, Jeffrey; Casey, Rachael; Kedar, Prasad

    Introduction: Traditionally, the treatment of Acute Radiation Syndrome (ARS) includes supportive therapy, cytokine therapy, blood component transfusions and even stem cell transplantation. Recommendations for ARS treatment are based on clinical symptoms, laboratory results, radiation exposure doses and information received from medical examinations. However, the current medical management of ARS does not include immune prophylaxis based on antiradiation vaccines or immune therapy with hyperimmune antiradiation serum. Immuneprophylaxis of ARS could result from stimulating the immune system via immunization with small doses of radiation toxins (Specific Radiation Determinants-SRD) that possess significant immuno-stimulatory properties. Methods: Principles of immuno-toxicology were used to derive this method of immune prophylaxis. An antiradiation vaccine containing a mixture of Hematotoxic, Neurotoxic and Non-bacterial (GI) radiation toxins, underwent modification into a toxoid forms of the original SRD radiation toxins. The vaccine was administered to animals at different times prior to irradiation. The animals were subjected to lethal doses of radiation that induced different forms of ARS at LD 100/30. Survival rates and clinical symptoms were observed in both control and vaccine-treated animals. Results: Vaccination with non-toxic doses of Radiation toxoids induced immunity from the elaborated Specific Radiation Determinant (SRD) toxins. Neutralization of radiation toxins by specific antiradiation antibodies resulted in significantly improved clinical symptoms in the severe forms of ARS and observed survival rates of 60-80% in animals subjected to lethal doses of radiation expected to induce different forms of ARS at LD 100/30. The most effective vaccination schedule for the antiradiation vaccine consisted of repeated injections 24 and 34 days before irradiation. The vaccine remained effective for the next two years, although the specific immune memory probably

  3. Sibling relationships in individuals with Angelman syndrome: a comparative study.

    Science.gov (United States)

    Love, Victoria; Richters, Lotte; Didden, Robert; Korzilius, Hubert; Machalicek, Wendy

    2012-01-01

    Investigating the impact of Angelman syndrome on the sibling relationship. This study explored differences in sibling relationships between children with a typically-developing sibling (n = 55) and children with a sibling with Angelman syndrome (n = 44). Sibling relationships were compared on four factors and 16 sub-scales of the Sibling Relationship Questionnaire-Revised. Results showed significant differences in mean scores on each of the four factors (i.e. Warmth/Closeness, Conflict, Rivalry and Dominance/Nurturance) and most of the sub-scales. ANCOVAs showed that demographic variables (number of siblings, living in a two-parent vs single parent household, gender, participant's age, place of residence) did not influence significant differences in sibling relationships between the two groups. Having a brother or sister with Angelman syndrome may influence the way in which the sibling perceives the sibling relationship. This may have important implications for family-centred intervention for this population.

  4. Autism, ADHD, Mental Retardation and Behavior Problems in 100 Individuals with 22q11 Deletion Syndrome

    Science.gov (United States)

    Niklasson, Lena; Rasmussen, Peder; Oskarsdottir, Solveig; Gillberg, Christopher

    2009-01-01

    This study assessed the prevalence and type of associated neuropsychiatric problems in children and adults with 22q11 deletion syndrome. One-hundred consecutively referred individuals with 22q11 deletion syndrome were given in-depth neuropsychiatric assessments and questionnaires screens. Autism spectrum disorders (ASDs) and/or attention…

  5. The Impact of Periodontal Disease on the Quality of Life of Individuals with Down Syndrome

    Science.gov (United States)

    Loureiro, Ana Cristina Amaral; Costa, Fernando Oliveira; da Costa, Jose Eustaquio

    2007-01-01

    Objective: This study aimed to determine the prevalence of periodontal disease among children and adolescents with Down syndrome and the possible repercussions of such pathology in the quality of life of the group in question. Method: The sample consists of 93 individuals with Down syndrome 6-20 years old, living in Brazil (Minas Gerais).…

  6. Incontinence in Individuals with Rett Syndrome: A Comparative Study

    NARCIS (Netherlands)

    Giesbers, S.A.H.; Didden, H.C.M.; Radstaake, M.; Korzilius, H.P.L.M.; Gontard, A. von; Lang, R.; Smeets, E.E.J.; Curfs, L.M.G.

    2012-01-01

    Frequency and type of incontinence and its association with other variables were assessed in females with Rett Syndrome (RS) (n = 63), using an adapted Dutch version of the ‘Parental Questionnaire: Enuresis/Urinary Incontinence’ (Beetz et al. 1994). Also, incontinence in RS was compared to a control

  7. Teaching Discriminated Social Approaches to Individuals with Angelman Syndrome

    Science.gov (United States)

    Fichtner, Caitlin S.; Tiger, Jeffrey H.

    2015-01-01

    Angelman syndrome is a neurogenetic disorder characterized by intellectual and developmental disability. Common behavioral characteristics of this disorder include a heightened interest in social interactions and frequent bids to initiate interaction. These bids can be problematic, for instance, when a child attempts to hug strangers in public…

  8. Prevalence of Metabolic Syndrome and Individual Criteria in College Students

    Science.gov (United States)

    Fernandes, Jill; Lofgren, Ingrid E.

    2011-01-01

    Metabolic syndrome (MetS) is present in young adults and because coronary heart disease (CHD) is likely, screening to determine MetS prevalence and its criteria is critical. Objective: To determine MetS prevalence and most prevalent criteria in a sample of first-year college students. Participants: First-year college students between 18 and 24…

  9. Epilepsy in Individuals with a History of Asperger's Syndrome

    DEFF Research Database (Denmark)

    Rich, Bente; Isager, Torben; Mouridsen, Svend Erik Birkebæk

    2013-01-01

    We performed a nationwide, register-based retrospective follow-up study of epilepsy in all people who were born between January 1, 1980 and June 29, 2006 and registered in the Danish Psychiatric Central Register with Asperger's syndrome on February 7, 2011. All 4,180 identified cases with AS (3...

  10. Acute Radiation Syndrome Severity Score System in Mouse Total-Body Irradiation Model.

    Science.gov (United States)

    Ossetrova, Natalia I; Ney, Patrick H; Condliffe, Donald P; Krasnopolsky, Katya; Hieber, Kevin P

    2016-08-01

    Radiation accidents or terrorist attacks can result in serious consequences for the civilian population and for military personnel responding to such emergencies. The early medical management situation requires quantitative indications for early initiation of cytokine therapy in individuals exposed to life-threatening radiation doses and effective triage tools for first responders in mass-casualty radiological incidents. Previously established animal (Mus musculus, Macaca mulatta) total-body irradiation (γ-exposure) models have evaluated a panel of radiation-responsive proteins that, together with peripheral blood cell counts, create a multiparametic dose-predictive algorithm with a threshold for detection of ~1 Gy from 1 to 7 d after exposure as well as demonstrate the acute radiation syndrome severity score systems created similar to the Medical Treatment Protocols for Radiation Accident Victims developed by Fliedner and colleagues. The authors present a further demonstration of the acute radiation sickness severity score system in a mouse (CD2F1, males) TBI model (1-14 Gy, Co γ-rays at 0.6 Gy min) based on multiple biodosimetric endpoints. This includes the acute radiation sickness severity Observational Grading System, survival rate, weight changes, temperature, peripheral blood cell counts and radiation-responsive protein expression profile: Flt-3 ligand, interleukin 6, granulocyte-colony stimulating factor, thrombopoietin, erythropoietin, and serum amyloid A. Results show that use of the multiple-parameter severity score system facilitates identification of animals requiring enhanced monitoring after irradiation and that proteomics are a complementary approach to conventional biodosimetry for early assessment of radiation exposure, enhancing accuracy and discrimination index for acute radiation sickness response categories and early prediction of outcome.

  11. Retrospective individual dosimetry using luminescence and EPR after radiation accidents

    International Nuclear Information System (INIS)

    Goeksu, H.Y.; Wieser, A.; Ulanovsky, A.

    2007-01-01

    In areas where radiation dose monitoring has not been performed, it is essential to use material available in the environment be able to rapidly assess doses to individuals for immediate emergency medical care or for general estimation of the radiological consequences. It was shown that certain types of telephone cards containing microchips have the potential to be used as individual radiation dosimeters in emergency situations to detect doses over 250 mGy by luminescence measurements. In order to understand the dosimetric properties of chip cards, the components obtained from INFINIEON Company at various stages of production were used for luminescence measurements. It is found that the protecting layer used above the chips so called 'globe top' is the main source of radiation induced signal in chip cards. The globe top produced by INFINIEON at that stage is found to contain SiO2 and Epoxy. In order to improve the dosimetric properties of the chip cards, the raw material of the globe top is mixed with phosphorous material. The variation of the dose response and the detection limit with respect to the amount and the type of the phosphor added to the globe top is investigated using thermo luminescence (TL) and infrared stimulated luminescence (IRSL). Taking into account the rapid changes in chip card producing technology such as material properties, size of the globe top, a special-purpose software tool has been developed to calculate integral free-in-air kerma or organ dose for a given energy dose response of the card and irradiation conditions (photon fluence spectrum and irradiation geometry). It is also shown that adding phosphors powders such as Al2O3:C, LiF:Cu or BeO to SiO2/epoxy mixture of the globe top material, radiation detection limit of chip cards can be reduced as low as a few mGy but the presence of an initial signal in UV cured material as well as gradual increase of the signal are found to be the main limiting factors for detection of low doses

  12. Antiradiation Antitoxin IgG : Immunological neutralization of Radiation Toxins at Acute Radiation Syndromes.

    Science.gov (United States)

    Popov, Dmitri; Maliev, Slava

    Introduction: High doses of radiation induce apoptotic necrosis of radio-sensitive cells. Mild doses of radiation induce apoptosis or controlled programmed death of radio-sensitive cells with-out development of inflammation and formation of Radiation Toxins. Cell apoptotic necrosis initiates Radiation Toxins (RT)formation. Radiation Toxins play an important role as a trig-ger mechanism for inflammation development and cell lysis. If an immunotherapy approach to treatment of the acute radiation syndromes (ARS) were to be developed, a consideration could be given to neutralization of radiation toxins (Specific Radiation Determinants-SRD) by specific antiradiation antibodies. Therapeutic neutralization effects of the blocking anti-radiation antibodies on the circulated RT had been studied. Radiation Toxins were isolated from the central lymph of irradiated animals with Cerebrovascular(Cv ARS),Cardiovascular (Cr ARS),Gastrointestinal(Gi ARS) and Haemopoietic (Hp ARS) forms of ARS. To accomplish this objective, irradiated animals were injected with a preparation of anti-radiation immunoglobulin G (IgG) obtained from hyperimmune donors. Radiation-induced toxins that we call Specific Radiation Determinants (SRD) possess toxic (neurotoxic, haemotoxic) characteristics as well as specific antigenic properties. Depending on direct physiochemical radiation damage, they can induce development of many of the pathological processes associated with ARS. We have tested several specific hyperimmune IgG preparations against these radiation toxins and ob-served that their toxic properties were neutralized by the specific antiradiation IgGs. Material and Methods: A scheme of experiments was following: 1.Isolation of radiation toxins (RT) from the central lymph of irradiated animals with different form of ARS. 2.Transformation of a toxic form of the RT to a toxoid form of the RT. 3.Immunization of radiation naive animals. Four groups of rabbits were inoculated with a toxoid form of SRD

  13. Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome.

    Science.gov (United States)

    Hou, Yikang; Jin, Yunbo; Lin, Xiaoxi; Chai, Gang; Zhang, Yan; Qi, Zuoliang

    2017-06-01

    Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. In this study, plastic rehabilitation was developed to correct the special features of patients with ectodermal dysplasia. Four men and 1 woman with ectodermal dysplasia syndrome were treated. Four patients showed dysostosis of the midface, and rhinoplasty with costal bone was performed, whereas cosmetic operation aiming to repair soft tissue defects was adopted for the last patient. After plastic corrections, all 5 patients were satisfied with the results and had no social embarrassment.

  14. Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

    DEFF Research Database (Denmark)

    Ansari, Morad; Rainger, Jacqueline; Hanson, Isabel M

    2016-01-01

    We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals referred with a diagnosis of Gillespie syndrome......) to PAX6 and one within a gene desert 5' (telomeric) to PITX2. Sequence analysis of the FOXC1 and PITX2 coding regions identified two plausibly pathogenic de novo FOXC1 missense mutations (p.Pro79Thr and p.Leu101Pro). No intragenic mutations were detected in PITX2. FISH mapping in an individual...... with Gillespie-like syndrome with an apparently balanced X;11 reciprocal translocation revealed disruption of a gene at each breakpoint: ARHGAP6 on the X chromosome and PHF21A on chromosome 11. In the other individuals with Gillespie syndrome no mutations were identified in either of these genes, or in HCCS...

  15. Self-reported stress among adolescent siblings of individuals with autism spectrum disorder and Down syndrome.

    Science.gov (United States)

    Shivers, Carolyn M; McGregor, Casey; Hough, Ashlea

    2017-11-01

    Despite the prevalence of studies showing increased stress among mothers of individuals with autism spectrum disorders, few studies have examined general stress among typically developing siblings. This study used an online survey to compare the levels of self-reported stress between adolescent siblings of individuals with autism spectrum disorder and Down syndrome. Sibling of individuals with autism reported significantly more overall stress than did siblings of individuals with Down syndrome, as well as more stress specifically attributed to the brother/sister with autism. The two groups did not differ on perceived social support from family and friends. In linear regression models, the disability group (autism vs Down syndrome) was significantly related to sibling stress above and beyond target child behavior problems, perceived social support, and demographic factors. These results help shed light on the daily experiences of adolescent siblings of individuals with autism and call for more research into potential interventions to address increased stress levels.

  16. Individual radiosensitivity does not correlate with radiation-induced apoptosis in lymphoblastoid cell lines or CD{sup 3+} lymphocytes

    Energy Technology Data Exchange (ETDEWEB)

    Wistop, A.; Keller, U.; Grabenbauer, G.G.; Sauer, R.; Distel, L.V.R. [Dept. of Radiation Oncology, Friedrich Alexander Univ. Erlangen-Nuremberg, Erlangen (Germany); Sprung, C.N. [Div. of Research, Peter MacCallum Cancer Centre, East Melbourne, VIC (Australia)

    2005-05-01

    Background and purpose: spontaneous and radiation-induced apoptosis of lymphoblastoid cell lines (LCLs) derived from healthy donors, cancer patients and donors with radiosensitivity syndromes as well as CD{sup 3+} lymphocytes from patients with {>=} grade 3 late toxicity were investigated as a possible marker for the detection of individual radiosensitivity. These investigations are based on the hypothesis that hypersensitive patients have reduced levels of apoptosis after in vitro irradiation as a result of a defect in the signaling pathway. Material and methods: Epstein-Barr virus-(EBV-)transformed LCLs derived from five healthy donors, seven patients with heterozygous or homozygous genotype for ataxia-telangiectasia or Nijmegen breakage syndrome and five patients with {>=} grade 3 late toxicity (RTOG) were investigated. In addition, CD{sup 3+} lymphocytes from 21 healthy individuals and 18 cancer patients including five patients with a proven cellular hypersensitivity to radiation were analyzed. Cells were irradiated in vitro with a dose of 2 and 5 Gy and were incubated for 48 h. Apoptotic rates were measured by the TUNEL assay followed by customized image analysis. Results: four out of seven radiosensitivity syndrome patients were identified to have an increased cellular radiosensitivity as determined by reduced apoptotic rates after irradiation of their respective LCLs. Comparatively, only two of the five hypersensitive cancer patients were clearly identified by reduced apoptotic rates. Spontaneous apoptotic rates were very homogeneous among all 39 samples from controls and patients, while lymphocytes of all cancer patients showed significantly lower radiation-induced rates. Conclusion: only a subgroup of hypersensitive patients may be identified by reduction of radiation-induced apoptotic rate. It is concluded that the hypothesis according to which hypersensitive cells have reduced levels of apoptosis is only conditionally true. The authors suggest that this

  17. The management of individuals involved in radiation accidents

    Energy Technology Data Exchange (ETDEWEB)

    Swindon, T N [Australian Radiation Lab., Melbourne (Australia)

    1991-09-01

    The author defines the objectives and the coverage of two radiation accident courses presented in 1990 by the US Radiation Emergency Assistance Centre and Training Site of the Oak Ridge Associated Universities together with some Australian Medical institutions. It is estimated that the courses, directed towards physicians, radiotherapists and nurses gave plenty practical advices and details on how to go about radiation accident managements. A manual on handling radiation accidents is also to be prepared after the courses.

  18. Classification System for Individualized Treatment of Adult Buried Penis Syndrome.

    Science.gov (United States)

    Tausch, Timothy J; Tachibana, Isamu; Siegel, Jordan A; Hoxworth, Ronald; Scott, Jeremy M; Morey, Allen F

    2016-09-01

    The authors present their experience with reconstructive strategies for men with various manifestations of adult buried penis syndrome, and propose a comprehensive anatomical classification system and treatment algorithm based on pathologic changes in the penile skin and involvement of neighboring abdominal and/or scrotal components. The authors reviewed all patients who underwent reconstruction of adult buried penis syndrome at their referral center between 2007 and 2015. Patients were stratified by location and severity of involved anatomical components. Procedures performed, demographics, comorbidities, and clinical outcomes were reviewed. Fifty-six patients underwent reconstruction of buried penis at the authors' center from 2007 to 2015. All procedures began with a ventral penile release. If the uncovered penile skin was determined to be viable, a phalloplasty was performed by anchoring penoscrotal skin to the proximal shaft, and the ventral shaft skin defect was closed with scrotal flaps. In more complex patients with circumferential nonviable penile skin, the penile skin was completely excised and replaced with a split-thickness skin graft. Complex patients with severe abdominal lipodystrophy required adjacent tissue transfer. For cases of genital lymphedema, the procedure involved complete excision of the lymphedematous tissue, and primary closure with or without a split-thickness skin graft, also often involving the scrotum. The authors' overall success rate was 88 percent (49 of 56), defined as resolution of symptoms without the need for additional procedures. Successful correction of adult buried penis often necessitates an interdisciplinary, multimodal approach. Therapeutic, IV.

  19. Prevalence of Autism Spectrum Disorder Symptomatology and Related Behavioural Characteristics in Individuals with Down Syndrome

    Science.gov (United States)

    Moss, Jo; Richards, Caroline; Nelson, Lisa; Oliver, Chris

    2013-01-01

    We evaluated the proportion of individuals with Down syndrome (DS: N = 108) who met criteria for autism spectrum disorder (ASD) on the Social Communication Questionnaire and the severity of ASD-related symptomatology in this group. The proportions of individuals with DS meeting the cut-off for ASD and autism in this sample were 19% and 8%,…

  20. Siblings of Individuals with Autism or Down Syndrome: Effects on Adult Lives

    Science.gov (United States)

    Orsmond, Gael. I.; Seltzer, M. M.

    2007-01-01

    Background: In this study, we examine instrumental and affective involvement in the sibling relationship for adults who have a brother or sister with an autism spectrum disorder (ASD) or Down syndrome (DS). We ask three research questions: (1) How do adult siblings of individuals with ASD differ from siblings of individuals with DS in their…

  1. Life Satisfaction among Mothers of Individuals with Prader-Willi Syndrome

    Science.gov (United States)

    Shivers, Carolyn M.; Leonczyk, Caroline L.; Dykens, Elisabeth M.

    2016-01-01

    Mothers of individuals with Prader-Willi syndrome (PWS) often experience numerous stressors, even when compared to mothers of children with other intellectual and developmental disabilities. Despite this, these mothers show great variability in self-reported life satisfaction. Using data from a longitudinal study of individuals with PWS and their…

  2. The Behavioural Phenotype of Cornelia de Lange Syndrome: A Study of 56 Individuals

    Science.gov (United States)

    Basile, Emanuele; Villa, L.; Selicorni, A.; Molteni, M.

    2007-01-01

    Background: Few studies have investigated functional and behavioural variables of Cornelia de Lange Syndrome (CdLS) in a large sample of individuals. The aim of this study is to provide greater insight into the clinical, behavioural and cognitive characteristics that are associated with CdLS. Methods: In total, 56 individuals with CdLS…

  3. A Comparison of the Trait Emotional Intelligence Profiles of Individuals with and without Asperger Syndrome

    Science.gov (United States)

    Petrides, K. V.; Hudry, Kristelle; Michalaria, Georgia; Swami, Viren; Sevdalis, Nick

    2011-01-01

    The extent to which the socioemotional impairments of Asperger syndrome (AS) might be extreme manifestations of individual differences within the general population remains under-explored. We compared the trait emotional intelligence (trait EI) profiles of 30 individuals with AS against the profiles of 43 group-matched controls using the Trait…

  4. An Investigation into Semantic and Phonological Processing in Individuals with Williams Syndrome

    Science.gov (United States)

    Lee, Cheryl S.; Binder, Katherine S.

    2014-01-01

    Purpose: The current study examined semantic and phonological processing in individuals with Williams syndrome (WS). Previous research in language processing in individuals with WS suggests a complex linguistic system characterized by "deviant" semantic organization and differential phonological processing. Method: Two experiments…

  5. Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists

    NARCIS (Netherlands)

    Menko, Fred H.; Aalfs, Cora M.; Henneman, Lidewij; Stol, Yrrah; Wijdenes, Miranda; Otten, Ellen; Ploegmakers, Marleen M. J.; Legemaate, Johan; Smets, Ellen M. A.; de Wert, Guido M. W. R.; Tibben, Aad

    2013-01-01

    The diagnosis of Lynch syndrome can lead to the prevention of colorectal cancer through periodic colonoscopies and removal of premalignant lesions in susceptible individuals. Therefore, predisposed individuals identified by mutation analysis are advised to inform their at-risk relatives about the

  6. Informing family members of individuals with Lynch syndrome : a guideline for clinical geneticists

    NARCIS (Netherlands)

    Menko, Fred H.; Aalfs, Cora M.; Henneman, Lidewij; Stol, Yrrah; Wijdenes, Miranda; Otten, Ellen; Ploegmakers, Marleen M. J.; Legemaate, Johan; Smets, Ellen M. A.; de Wert, Guido M. W. R.; Tibben, Aad

    The diagnosis of Lynch syndrome can lead to the prevention of colorectal cancer through periodic colonoscopies and removal of premalignant lesions in susceptible individuals. Therefore, predisposed individuals identified by mutation analysis are advised to inform their at-risk relatives about the

  7. Psychoneurological character of persons who had acute radiation syndrome

    International Nuclear Information System (INIS)

    Nyagu, A.I.; Khalyavka, I.G.; Loganovskij, K.N.; Plachinda, Yu.I.; Yur'ev, K.L.; Loganovskaya, T.K.

    1996-01-01

    Survivors of the Chernobyl accident who had an acute radiation syndrome (ARS,110 persons) were observed for 8 years after Chernobyl accident. It has been found that the cerebrovascular pathology and vertebral osteochondrosis rate increase as well as abnormal psychoorganic changes in personality and endogenic-like psychoorganic process, their rate being in proportion to the ARS heaviness. The EEG and evoked potentials have confirmed the dyscirculatory and toxic-metabolic organic disorders of the central nervous system as a result of irradiation in the remote period of the ARS consequences. It is necessary for early and differential diagnostic of the psychoneurological disorders after ARS to carry out the neuro- and psychophysiological examination as well as computer tomography, nucleic magnetic resonance and positron emission tomography of the brain

  8. Cognitive capacities and composite cognitive skills in individuals with Usher syndrome type 1 and 2

    OpenAIRE

    Henricson, Cecilia

    2015-01-01

    The present thesis belongs to the research area disability research and deal with specific aspects of cognition in individuals with Usher syndrome type 1 and 2. The subject has been investigated and is discussed within an interdisciplinary framework, though the theories applied and described are derived from the area of cognitive psychology. Usher syndrome is a rare genetic condition causing a combination of visual and hearing impairment: deafblindness. There is a congenital hearing loss that...

  9. Psychiatric Diagnoses in Individuals with Non-Syndromic Oral Clefts

    DEFF Research Database (Denmark)

    Pedersen, Dorthe Almind; Wehby, George L; Murray, Jeffrey C

    2016-01-01

    for 247,821 person-years, and 85,653 individuals without OC followed for 2,501,129 person-years. RESULTS: A total of 953 (11.1%) of the individuals with OC (9.6% for cleft lip (CL), 10.8% for cleft lip and palate (CLP) and 13.1% for cleft palate (CP)) and 8,117 (9.5%) in the comparison group had at least...... one psychiatric diagnosis. Cox proportional hazard regression model revealed that individuals with OC had significantly higher risk of a psychiatric diagnosis (hazard ratio (HR) = 1.19, 95% CI: 1.12-1.28). When examining cleft type, no difference was found for CL (HR = 1.03, 95% CI: 0.......90-1.17), but CLP was associated with a small increased risk (HR = 1.13, 95% CI: 1.01-1.26), whereas individuals with CP had the largest increased risk (HR = 1.45, 95% CI: 1.30-1.62). The largest differences were found in schizophrenia-like disorders, mental retardation and pervasive developmental disorders, but we...

  10. Scintigraphic and Endoscopic Evaluation of Radiation-induced Acute Gastrointestinal Syndrome in Micro-pig Model

    International Nuclear Information System (INIS)

    Lee, Seung-Sook; Kim, Kyung-Min; Kim, Jin; Jang, Won-Suk; Lee, Jung-Eun; Kim, Noo-Ri; Lee, Sun-Joo; Kim, Mi-Sook; Ji, Young-Hoon; Cheon, Gi-Jeong; Lim, Sang-Moo

    2007-01-01

    Micro-pig model can be served as a proper substitute for humans in studying acute radiation syndrome following radiation-exposure accidents, especially showing similar clinico-pathologic response of hematopoietic and gastrointestinal (GI) syndrome to human. Among acute GI syndrome induced by radiation, GI motility disturbance has not been studied, however, it would be important in a viewpoint of affecting infectious progression from GI tract. Here, we employed scintigraphy of GI transit time and sequential endoscopic examination and tissue sampling in micropigs followed by abdominal radiation exposure. The specific aims of this study are to evaluate objective evidence of GI motility disturbance by scintigraphic evaluation and to find corresponding clinicoapthologic changes in radiation-induced acute GI syndrome

  11. Individual radiation sensitivity (gender, age, genetic disposition). Consequences for radiation protection

    International Nuclear Information System (INIS)

    Streffer, C.

    2013-01-01

    The effects of ionising radiation on human health is influenced by a number of physiological and molecular biological factors. This is also valid for the causation of stochastic radiation effects especially the causation of cancer. Several epidemiological studies have resulted with respect to the total rate of solid cancers that women are more sensitive than men by a factor of 1.6 to 2.0. For leukaemia this is not the case. The largest studies come from the investigations on the survivors of the atomic bombs in Hiroshima and Nagasaki. But also studies on the population of the Techa River (Southeast Urals) yield such data. The analyses of single cancer localizations come to different results with respect to the dependence on the sex. Secondary cancers after radiotherapy for cancer treatment show also higher rates in women than in men. A similar situation is observed with respect to the dependence of cancer rate on age. The total rate of solid cancers is highest with children and decreases with increasing age. The effects are very different again with single cancer localizations. An especially strong age dependence was observed for thyroid cancer. Increasingly individuals have been found who are especially radiosensitive on the basis of their genetic disposition also with respect to the causation of cancer. Mechanisms and possibilities to trace these individuals are discussed. It is also discussed whether and to which extent these data should have consequences for the practical radiological protection. (orig.)

  12. Methylation profiling in individuals with Russell-Silver syndrome.

    Science.gov (United States)

    Peñaherrera, Maria S; Weindler, Susanne; Van Allen, Margot I; Yong, Siu-Li; Metzger, Daniel L; McGillivray, Barbara; Boerkoel, Cornelius; Langlois, Sylvie; Robinson, Wendy P

    2010-02-01

    Russell-Silver syndrome (RSS) is a heterogeneous disorder associated with pre- and post-natal growth restriction and relative macrocephaly. Involvement of imprinted genes on both chromosome 7 and 11p15.5 has been reported. To further characterize the role of epimutations in RSS we evaluated the methylation status at both 11p15.5 imprinting control regions (ICRs): ICR1 associated with H19/IGF2 expression and ICR2 (KvDMR1) associated with CDKN1C expression in a series of 35 patients with RSS. We also evaluated methylation at the promoter regions of other imprinted genes involved in growth such as PLAGL1 (6q24), GCE (7q21), and PEG10 (7q21) in this series of 35 patients with RSS. Thirteen of the 35 patient samples, but none of 22 controls, showed methylation levels at ICR1 that were more than 2 SD below the mean for controls. Three RSS patients were highly methylated at the SCGE promoter, all of which were diagnosed with upd(7)mat. To identify further potential global methylation changes in RSS patients, a subset of 22 patients were evaluated at 1505 CpG sites by the Illumina GoldenGate methylation array. Among the few CpG sites displaying a significant difference between RSS patients and controls, was a CpG associated with the H19 promoter. No other sites associated with known imprinted genes were identified as abnormally methylated in RSS patients by this approach. While the association of hypomethylation of the H19/IGF2 ICR1 is clear, the continuous distribution of methylation values among the patients and controls complicates the establishment of clear cut-offs for clinical diagnosis. Copyright 2010 Wiley-Liss, Inc.

  13. Mortality risk in a nationwide cohort of individuals with tic disorders and with tourette syndrome

    DEFF Research Database (Denmark)

    Meier, Sandra M; Dalsgaard, Søren; Mortensen, Preben B

    2017-01-01

    BACKGROUND: Few studies have investigated mortality risk in individuals with tic disorders. METHODS: We thus measured the risk of premature death in individuals with tic disorders and with Tourette syndrome in a prospective cohort study with 80 million person-years of follow-up. We estimated...... mortality rate ratios and adjusted for calendar year, age, sex, urbanicity, maternal and paternal age, and psychiatric disorders to compare individuals with and without tic disorders. RESULTS: The risk of premature death was higher among individuals with tic disorders (mortality rate ratio, 2.02; 95% CI, 1.......49-2.66) and with Tourette syndrome (mortality rate ratio, 1.63; 95% CI, 1.11-2.28) compared with controls. After the exclusion of individuals with comorbid attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and substance abuse, tic disorder remained associated with increased mortality risk (mortality...

  14. Cellular therapy to treat ionizing radiation-induced cutaneous radiation syndrome: 2 cases report

    International Nuclear Information System (INIS)

    Benderitter, M.; Chapel, A.; Trompier, F.; Clairand, I.; Bottolier-Depois, J.F.; Gourmelon, P.; Bey, E.; Lataillade, J.J.

    2008-01-01

    Full Text: Localized irradiation at high dose exposition could induce severe radiation burns characterized by the occurrence of unpredictable successive inflammatory waves leading to the extension in surface and depth of necrotic processes. The medical management of these severe radiation burns remains today a challenging issue unresolved by the classical therapeutical approach. For the first time, two victims (accident of Chile, 2006 and accident of Senegal, 2007) accidentally exposed to an iridium gammagraphy radioactive source experienced a new and innovative therapeutic strategy combining dosimetry-guided surgery lesion excision and injection of MSC. The clinical evolution was remarkable. The clinical transfer of this therapeutic option was possible based on the research perform in the Institute and the IRSN/Percy hospital cooperation. Our data suggested that cellular therapy based on Mesenchymal Stem Cell (MSC) injection could be used to repair numerous injured tissues. We have studied the potential use of human MSC (hMSC) in order to limit radiation-induced skin lesions. Our pre-clinical data suggest a possible use of hMSC for the treatment of the early phase of the cutaneous radiation syndrome. The understanding of the precise healing mechanisms of hMSC in animal model is under investigation. These results will be helpful to generalize this innovative therapy to the treatment of other radiological complications. (author)

  15. The inflammatory response plays a major role in the acute radiation syndrome induced by fission radiation

    International Nuclear Information System (INIS)

    Agay, D.; Chancerelle, Y.; Hirodin, F.; Mathieu, J.; Multon, E.; Van Uye, A.; Mestries, J.C.

    1997-01-01

    At high dose rates, both gamma and neutron irradiation induce an acute inflammatory syndrome with huge intercellular communication disorders. This inflammatory syndrome evolves in two phases, separated by a latency phase. During the prodromal phase, the molecular and cellular lesions induced by free radicals trigger an initial response which associates cellular repair and multicellular interactions involving both humoral and nervous communications. A large part of perturbations constitute a non specific inflammatory syndrome and clinically silent coagulation disorders which are linked by common intercellular mediators. All these perturbations are rapidly reversible and there is no correlation between the radiation dose and the severity of the response. During the manifest-illness phase, both inflammatory and coagulation disorders resume, slightly preceding the clinical symptoms. Biochemical symptoms are moderate in the animals which will survive, but they escape regulatory mechanisms in those which will die, giving rise to a vicious circle. These biochemical disorders are largely responsible for the death. With lower dose rates, it cannot be excluded that great cellular communication disorders take place at the tissue level, with limited blood modifications. This aspect should be taken into account for the optimization of cytokine therapies. (authors)

  16. Granulocyte Colony-Stimulating Factor in the Treatment of Acute Radiation Syndrome: A Concise Review

    Directory of Open Access Journals (Sweden)

    Michal Hofer

    2014-04-01

    Full Text Available This article concisely summarizes data on the action of one of the principal and best known growth factors, the granulocyte colony-stimulating factor (G-CSF, in a mammalian organism exposed to radiation doses inducing acute radiation syndrome. Highlighted are the topics of its real or anticipated use in radiation accident victims, the timing of its administration, the possibilities of combining G-CSF with other drugs, the ability of other agents to stimulate endogenous G-CSF production, as well as of the capability of this growth factor to ameliorate not only the bone marrow radiation syndrome but also the gastrointestinal radiation syndrome. G-CSF is one of the pivotal drugs in the treatment of radiation accident victims and its employment in this indication can be expected to remain or even grow in the future.

  17. Trunk, pelvis and hip biomechanics in individuals with femoroacetabular impingement syndrome: Strategies for step ascent.

    Science.gov (United States)

    Diamond, Laura E; Bennell, Kim L; Wrigley, Tim V; Hinman, Rana S; Hall, Michelle; O'Donnell, John; Hodges, Paul W

    2018-03-01

    Femoroacetabular impingment (FAI) syndrome is common among young active adults and a proposed risk factor for the future development of hip osteoarthritis. Pain is dominant and drives clinical decision-making. Evidence for altered hip joint function in this patient population is inconsistent, making the identification of treatment targets challenging. A broader assessment, considering adjacent body segments (i.e. pelvis, trunk) and individual movement strategies, may better inform treatment programs. This exploratory study aimed to compare trunk, pelvis, and hip biomechanics during step ascent between individuals with and without FAI syndrome. Fifteen participants diagnosed with symptomatic cam-type or combined (cam plus pincer) FAI who were scheduled for arthroscopic surgery, and 11 age-, and sex-comparable pain- and disease-free individuals, underwent three-dimensional motion analysis during a step ascent task. Trunk, pelvis and hip biomechanics were compared between groups. Participants with FAI syndrome exhibited altered ipsilateral trunk lean and pelvic rise towards the symptomatic side during single-leg support compared to controls. Alterations were not uniformly adopted across all individuals with FAI syndrome; those who exhibited more pronounced alterations to frontal plane pelvis control tended to report pain during the task. There were minimal between-group differences for hip biomechanics. Exploratory data suggest biomechanics at the trunk and pelvis during step ascent differ between individuals with and without FAI syndrome. Those with FAI syndrome implement a range of proximal strategies for task completion, some of which may have relevance for rehabilitation. Longitudinal investigations of larger cohorts are required to evaluate hypothesized clinical and structural consequences. Copyright © 2018 Elsevier B.V. All rights reserved.

  18. Investigation on Down's syndrome in the children living in high background radiation area

    International Nuclear Information System (INIS)

    Zha Yongru

    1989-01-01

    After the survey in 1975 and 1979 of Down's syndrome in the children living in high background radiation area, we made a follow-up investigation in 1985 and 1986. All the obtained data are analysed. 25258 children in high background radiation area were examined and 22 children with Down's syndrome were identified, the morbidity rate being 0.87%. 21837 children in control area were examined and four children with Down's syndrome were identified, the morbidity being 0.18%. There was a statistically significant difference between the two groups. It was noted that the occurrence of Down's syndrome was related to the maternal age but there was no evidence suggesting a close relationship between high background radiation and the development of Down's syndrome

  19. The acute radiation syndrome in the 137Cs Brazilian accident, 1987

    International Nuclear Information System (INIS)

    Valverde, N.J.; Cordeiro, J.M.; Oliveira, A.R.; Brandao Mello, C.E.

    1989-01-01

    Eight patients with the most severe degreed of bone marrow impairment are studied. Case descriptions are limited to manifestations and complications related to the 'Acute Radiation Syndrome' (ARS). Medical facilities, exams and therapeutic management are discussed. (MAC) [pt

  20. Serum Myostatin Is Reduced in Individuals with Metabolic Syndrome

    Science.gov (United States)

    Chiang, Chih-Kang; Tseng, Fen-Yu; Tseng, Ping-Huei; Chen, Chi-Ling; Wu, Kwan-Dun; Yang, Wei-Shiung

    2014-01-01

    Aims Myostatin is a negative regulator of skeletal muscle mass and may also modulate energy metabolism secondarily. We aim to investigate the relationship between serum myostatin and the metabolic variables in diabetic (DM) and non-diabetic subjects. Materials and Methods A cross-sectional study recruiting 246 consecutive DM patients and 82 age- and gender-matched non-diabetic individuals at a medical center was conducted. The variables of anthropometry and blood chemistry were obtained. Serum myostatin level was measured with enzyme immunoassay. Results DM group had lower serum myostatin compared with non-diabetics (7.82 versus 9.28 ng/ml, pmyostatin than those without (7.39 versus 9.49 ng/ml, pmyostatin level decreased with increasing numbers of the MetS components (p for trendmyostatin than those without. The serum myostatin level was independently negatively related to larger abdominal girth, higher triglycerides, and lower HDL-C after adjustment. The odds ratios for MetS, central obesity, low HDL-C, high triglycerides, and DM were 0.85, 0.88, 0.89, 0.85, and 0.92, respectively, when serum myostatin increased per 1 ng/mL, in the binary logistic regression models. Conclusions Lower serum myostatin independently associated with MetS, central obesity, low HDL-C, and high triglycerides after adjustment. Higher serum myostatin is associated with favorable metabolic profiles. PMID:25254550

  1. Dental and maxillofacial characteristics of six Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.

    Science.gov (United States)

    Okamura, Erika; Suda, Naoto; Baba, Yoshiyuki; Fukuoka, Hiroki; Ogawa, Takuya; Ohkuma, Mizue; Ahiko, Nozomi; Yasue, Akihiro; Tengan, Toshimoto; Shiga, Momotoshi; Tsuji, Michiko; Moriyama, Keiji

    2013-03-01

    Objective : Ectrodactyly-ectodermal dysplasia-clefting syndrome is a congenital anomaly characterized by ectodermal dysplasia, ectrodactyly, cleft lip and palate, and lacrimal duct anomalies. Because this syndrome is frequently accompanied by a congenital lack of teeth, narrow palate, and malocclusion, comprehensive orthodontic intervention is required. Design : To highlight the specific dental and maxillofacial characteristics of ectrodactyly-ectodermal dysplasia-clefting syndrome, six Japanese individuals diagnosed with the syndrome are described here. Patients : The subjects consisted of two boys and four girls (age range, 6.0 to 13.9 years) diagnosed with ectrodactyly-ectodermal dysplasia-clefting syndrome by medical and dental specialists. Their conditions included ectodermal dysplasia (hypodontia, microdontia, enamel hypoplasia, and abnormalities in hair and nails), cleft lip and/or palate, and ectrodactyly. Cephalograms, panoramic x-rays, and dental casts were taken; systemic complications were recorded at the first visit to our dental hospital. Results : All individuals had severe oligodontia with 9 to 18 missing teeth. The missing teeth were mainly maxillary and mandibular incisors and second bicuspids, arranged in a symmetrical manner. Cephalometric analysis showed retruded and short maxilla due to cleft lip and/or palate. It is interesting that all individuals showed a characteristically shaped mandibular symphysis with a retruded point B. It is likely that this unusual symphyseal morphology is due to the lack of mandibular incisors. Conclusions : This study demonstrates the presence of severe oligodontia in the incisal and premolar regions and describes a characteristic maxillary and mandibular structure in Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.

  2. Albuminuria and Glomerular Filtration Rate in Individuals with Type 1 Diabetes Mellitus: Contribution of Metabolic Syndrome.

    Science.gov (United States)

    Uribe-Wiechers, Ana Cecilia; Janka-Zires, Marcela; Almeda-Valdés, Paloma; López-Gutiérrez, Joel; Gómez-Pérez, Francisco J

    2015-01-01

    The development of metabolic syndrome has been described in patients with type 1 diabetes mellitus as the disease progresses over time. The purpose of this study is to assess the relationship between metabolic syndrome, albuminuria, and glomerular filtration rate, as well as to determine the prevalence of metabolic syndrome, in a group of Mexican patients with type 1 diabetes mellitus. We conducted a cross-sectional study that included patients with type 1 diabetes mellitus who were diagnosed over 10 years ago and who are seen at the Diabetes Intensive Control Clinic of the Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran in Mexico City. The presence of metabolic syndrome was determined by using the National Cholesterol Education Program-Adult Treatment Panel III (ATP III) criteria. A total of 81 individuals were studied. The prevalence of metabolic syndrome was 18.5% (n = 15). A higher albuminuria was found in subjects with metabolic syndrome (34.9 mg/24 hours; 8.3-169.3) than in those without metabolic syndrome (9.0 mg/24 hours; 5.0-27.0; p = 0.02). Glomerular filtration rate was lower in patients with metabolic syndrome (95.3 ml/minute; [64.9-107.2] vs. 110.2 ml/minute [88.1-120.3]; p = 0.04). After classifying the population according to the number of metabolic syndrome criteria, a progressive increase in albuminuria and a progressive decrease in glomerular filtration rate were found with each additional metabolic syndrome criterion (p = 0.008 and p = 0.032, respectively). After adjusting for age, time from diagnosis, systolic blood pressure, triglycerides, HDL-cholesterol, and treatment with angiotensin receptor blockers or angiotensin converting enzyme inhibitors, we found that age, time from diagnosis, triglycerides, and HDL-cholesterol were independent factors associated with glomerular filtration rate (R2 = 0.286; p diabetes mellitus. Metabolic syndrome was present in 18.5% of this group of Mexican individuals with type 1 diabetes

  3. Spatial-Sequential and Spatial-Simultaneous Working Memory in Individuals with Williams Syndrome

    Science.gov (United States)

    Lanfranchi, Silvia; De Mori, Letizia; Mammarella, Irene C.; Carretti, Barbara; Vianello, Renzo

    2015-01-01

    The aim of the present study was to compare visuospatial working memory performance in 18 individuals with Williams syndrome (WS) and 18 typically developing (TD) children matched for nonverbal mental age. Two aspects were considered: task presentation format (i.e., spatial-sequential or spatial-simultaneous), and level of attentional control…

  4. Sentence Memory of Individuals with Down's Syndrome and Typically Developing Children

    Science.gov (United States)

    Seung, H.-K.; Chapman, R.

    2004-01-01

    Individuals with Down's syndrome (DS) have an auditory short-term memory span disproportionately shorter than the non-verbal mental age (MA). This study evaluated the Baddeley model's claim that verbal short-term memory deficits might arise from slower speaking rates (and thus less material rehearsed in a 2 s passive store) by using the sentence…

  5. Oral Health Condition and Treatment Needs of a Group of Nigerian Individuals with Down Syndrome

    Science.gov (United States)

    Oredugba, Folakemi A.

    2007-01-01

    Objective: This study was carried out to determine the oral health condition and treatment needs of a group of individuals with Down syndrome in Nigeria. Method: Participants were examined for oral hygiene status, dental caries, malocclusion, hypoplasia, missing teeth, crowding and treatment needs. Findings were compared with controls across age…

  6. Predicting Longitudinal Change in Language Production and Comprehension in Individuals with Down Syndrome: Hierarchical Linear Modeling.

    Science.gov (United States)

    Chapman, Robin S.; Hesketh, Linda J.; Kistler, Doris J.

    2002-01-01

    Longitudinal change in syntax comprehension and production skill, measured over six years, was modeled in 31 individuals (ages 5-20) with Down syndrome. The best fitting Hierarchical Linear Modeling model of comprehension uses age and visual and auditory short-term memory as predictors of initial status, and age for growth trajectory. (Contains…

  7. An Exploration of Causes of Non-Literal Language Problems in Individuals with Asperger Syndrome

    Science.gov (United States)

    Martin, Ingerith; McDonald, Skye

    2004-01-01

    Individuals with Asperger Syndrome (AS), a high functioning variant of Autism, are often noted to possess intact language ability, yet fail to use this language capacity to engage in interactive communication. This difficulty using language in a social context has been referred to as a deficit in pragmatic language. In particular, difficulty…

  8. Pragmatic Inference Abilities in Individuals with Asperger Syndrome or High-Functioning Autism. A Review

    Science.gov (United States)

    Loukusa, Soile; Moilanen, Irma

    2009-01-01

    This review summarizes studies involving pragmatic language comprehension and inference abilities in individuals with Asperger syndrome or high-functioning autism. Systematic searches of three electronic databases, selected journals, and reference lists identified 20 studies meeting the inclusion criteria. These studies were evaluated in terms of:…

  9. Linguistic Characteristics of Individuals with High Functioning Autism and Asperger Syndrome

    Science.gov (United States)

    Seung, Hye Kyeung

    2007-01-01

    This study examined the linguistic characteristics of high functioning individuals with autism and Asperger syndrome. Each group consisted of 10 participants who were matched on sex, chronological age, and intelligence scores. Participants generated a narrative after watching a brief video segment of the Social Attribution Task video. Each…

  10. Association between Speech-Language, General Cognitive Functioning and Behaviour Problems in Individuals with Williams Syndrome

    Science.gov (United States)

    Rossi, N. F.; Giacheti, C. M.

    2017-01-01

    Background: Williams syndrome (WS) phenotype is described as unique and intriguing. The aim of this study was to investigate the associations between speech-language abilities, general cognitive functioning and behavioural problems in individuals with WS, considering age effects and speech-language characteristics of WS sub-groups. Methods: The…

  11. Severity of Hyperacusis Predicts Individual Differences in Speech Perception in Williams Syndrome

    Science.gov (United States)

    Elsabbagh, M.; Cohen, H.; Cohen, M.; Rosen, S.; Karmiloff-Smith, A.

    2011-01-01

    Background: Williams Syndrome (WS) is a neurodevelopmental disorder of genetic origin, characterised by relative proficiency in language in the face of serious impairment in several other domains. Individuals with WS display an unusual sensitivity to noise, known as hyperacusis. Methods: In this study, we examined the extent to which hyperacusis…

  12. Understanding the Friendship Processes of Individuals with Asperger's Syndrome: A Phenomenological Study of Reflective College Experiences

    Science.gov (United States)

    Lee, Kammie Bohlken

    2010-01-01

    This phenomenological study shed light on the reflective college experiences of 11 individuals with Asperger's Syndrome and High Functioning Autism from a competence rather than a deficit model of disability (Biklen, 2005). Using Goleman's model of Social Intelligence (2006) as a theoretical framework, the cognitive, behavioral, and affective…

  13. Memory for self-performed actions in individuals with Asperger syndrome.

    OpenAIRE

    Tiziana Zalla; Elena Daprati; Anca-Maria Sav; Pauline Chaste; Daniele Nico; Marion Leboyer

    2010-01-01

    Memory for action is enhanced if individuals are allowed to perform the corresponding movements, compared to when they simply listen to them (enactment effect). Previous studies have shown that individuals with Autism Spectrum Disorders (ASD) have difficulties with processes involving the self, such as autobiographical memories and self performed actions. The present study aimed at assessing memory for action in Asperger Syndrome (AS). We investigated whether adults with AS would benefit from...

  14. Association between weight bias internalization and metabolic syndrome among treatment-seeking individuals with obesity.

    Science.gov (United States)

    Pearl, Rebecca L; Wadden, Thomas A; Hopkins, Christina M; Shaw, Jena A; Hayes, Matthew R; Bakizada, Zayna M; Alfaris, Nasreen; Chao, Ariana M; Pinkasavage, Emilie; Berkowitz, Robert I; Alamuddin, Naji

    2017-02-01

    Weight stigma is a chronic stressor that may increase cardiometabolic risk. Some individuals with obesity self-stigmatize (i.e., weight bias internalization, WBI). No study to date has examined whether WBI is associated with metabolic syndrome. Blood pressure, waist circumference, and fasting glucose, triglycerides, and high-density lipoprotein cholesterol were measured at baseline in 178 adults with obesity enrolled in a weight-loss trial. Medication use for hypertension, dyslipidemia, and prediabetes was included in criteria for metabolic syndrome. One hundred fifty-nine participants (88.1% female, 67.3% black, mean BMI = 41.1 kg/m 2 ) completed the Weight Bias Internalization Scale and Patient Health Questionnaire (PHQ-9, to assess depressive symptoms). Odds ratios and partial correlations were calculated adjusting for demographics, BMI, and PHQ-9 scores. Fifty-one participants (32.1%) met criteria for metabolic syndrome. Odds of meeting criteria for metabolic syndrome were greater among participants with higher WBI, but not when controlling for all covariates (OR = 1.46, 95% CI = 1.00-2.13, P = 0.052). Higher WBI predicted greater odds of having high triglycerides (OR = 1.88, 95% CI = 1.14-3.09, P = 0.043). Analyzed categorically, high (vs. low) WBI predicted greater odds of metabolic syndrome and high triglycerides (Ps metabolic syndrome require further exploration. © 2017 The Obesity Society.

  15. Fitness attenuates the prevalence of increased coronary artery calcium in individuals with metabolic syndrome.

    Science.gov (United States)

    Ekblom-Bak, Elin; Ekblom, Örjan; Fagman, Erika; Angerås, Oskar; Schmidt, Caroline; Rosengren, Annika; Börjesson, Mats; Bergström, Göran

    2018-02-01

    Background The association between cardiorespiratory fitness, physical activity and coronary artery calcium (CAC) is unclear, and whether higher levels of fitness attenuate CAC prevalence in subjects with metabolic syndrome is not fully elucidated. The present study aims to: a) investigate the independent association of fitness on the prevalence of CAC, after adjustment for moderate-to-vigorous physical activity and sedentary time, and b) study the possible attenuation of increased CAC by higher fitness, in participants with metabolic syndrome. Design Cross-sectional. Methods In total 678 participants (52% women), 50-65 years old, from the SCAPIS pilot study were included. Fitness (VO 2 max) was estimated by submaximal cycle ergometer test and moderate-to-vigorous physical activity and sedentary time were assessed using hip-worn accelerometers. CAC score (CACS) was quantified using the Agatston score. Results The odds of having a significant CACS (≥100) was half in participants with moderate/high fitness compared with their low fitness counterparts. Further consideration of moderate-to-vigorous physical activity, sedentary time and number of components of the metabolic syndrome did only slightly alter the effect size. Those with metabolic syndrome had 47% higher odds for significant CAC compared with those without metabolic syndrome. However, moderate/high fitness seems to partially attenuate this risk, as further joint analysis indicated an increased odds for having significant CAC only in the unfit metabolic syndrome participants. Conclusions Being fit is associated with a reduced risk of having significant CAC in individuals with metabolic syndrome. While still very much underutilized, fitness should be taken into consideration in everyday clinical risk prediction in addition to the traditional risk factors of the metabolic syndrome.

  16. New ICRU quantities for the environmental and individual monitoring. Standardization of individual dosemeters by using external beams of photon radiation

    International Nuclear Information System (INIS)

    Brosed, A.; Delgado, A.; Granados, C. E.

    1987-01-01

    The quantities introduced by ICRU for the radiological monitoring are commented, specially those implied in individual protection against external photons. A procedure is proposed in order to standardize the individual dosemeters by using the kerma in air references of CIEMAT-JEN. The reference radiation beams are described in connection with ISO standards. Provisional values are selected for the appropriate conversion and correction factors. (Author) 23 refs

  17. Metabolic syndrome among individuals with heroin use disorders on methadone therapy: Prevalence, characteristics, and related factors.

    Science.gov (United States)

    Vallecillo, Gabriel; Robles, María José; Torrens, Marta; Samos, Pilar; Roquer, Albert; Martires, Paula K; Sanvisens, Arantza; Muga, Roberto; Pedro-Botet, Juan

    2018-01-02

    Observational studies have reported a high prevalence of obesity and diabetes in subjects on methadone therapy; there are, however, limited data about metabolic syndrome. The aim of the study was to evaluate the prevalence of metabolic syndrome and related factors in individuals with heroin use disorder on methadone therapy. A cross-sectional study in individuals with heroin use disorder on methadone therapy at a drug abuse outpatient center. Medical examinations and laboratory analyses after a 12-hour overnight fast were recorded. Metabolic syndrome was diagnosed according to the National Cholesterol Education Program Adult Treatment Panel III (ATP III) criteria. One hundred and twenty-two subjects were included, with a mean age of 46.1 ± 9 years, a median body mass index (BMI) of 25.3 kg/m 2 (interquartile range [IQR]: 21.2-28), and 77.9% were men. Median exposure to methadone therapy was 13 years (IQR: 5-20). Overweight and obesity were present in 29.5% and 17.2% of the participants, respectively. Metabolic syndrome components were low high-density lipoprotein (HDL) cholesterol (51.6%), hypertriglyceridemia (36.8%), high blood pressure (36.8%), abdominal obesity (27.0%), and raised blood glucose levels (18.0%). Abdominal obesity was more prevalent in women (52% vs. 20%, P = >0.01) and high blood pressure more prevalent in men (41.1% vs. 22.2%, P = .07). Prevalence of metabolic syndrome was 29.5% (95% confidence interval [CI]: 16.6-31.8). In the multivariate logistic regression analysis, BMI (per 1 kg/m 2 increase odds ratio [OR]: 1.49, 95% CI: 1.27-1.76) and exposure time to methadone therapy (per 5 years of treatment increase OR: 1.38, 95% CI: 1.28-1.48) were associated with metabolic syndrome. Overweight and metabolic syndrome are prevalent findings in individuals with heroin use disorder on methadone therapy. Of specific concern is the association of methadone exposure with metabolic syndrome. Preventive measures and clinical routine screening should be

  18. Basic requirements of dosemeter systems for individual monitoring of external radiation

    International Nuclear Information System (INIS)

    Boehm, J.; Ambrosi, P.

    1985-01-01

    A plea is made for detailed detector independent requirements for dosemeter systems for individual monitoring of external radiation. These requirements should have their origin in the fundamental aspects and concepts of radiation protection for workers, and should be something like a translation of the general principles of individual monitoring into a language easily understandable by producers and users. This work comprises a summary of the general objectives of individual monitoring and discussion of some relevant requirements for dosemeter systems. (orig.) [de

  19. Mortality risk in a nationwide cohort of individuals with tic disorders and with tourette syndrome.

    Science.gov (United States)

    Meier, Sandra M; Dalsgaard, Søren; Mortensen, Preben B; Leckman, James F; Plessen, Kerstin J

    2017-04-01

    Few studies have investigated mortality risk in individuals with tic disorders. We thus measured the risk of premature death in individuals with tic disorders and with Tourette syndrome in a prospective cohort study with 80 million person-years of follow-up. We estimated mortality rate ratios and adjusted for calendar year, age, sex, urbanicity, maternal and paternal age, and psychiatric disorders to compare individuals with and without tic disorders. The risk of premature death was higher among individuals with tic disorders (mortality rate ratio, 2.02; 95% CI, 1.49-2.66) and with Tourette syndrome (mortality rate ratio, 1.63; 95% CI, 1.11-2.28) compared with controls. After the exclusion of individuals with comorbid attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and substance abuse, tic disorder remained associated with increased mortality risk (mortality rate ratio, 2.30; 95% CI, 1.57-3.23), as did also Tourette Syndrome (mortality rate ratio, 1.81; 95% CI, 1.11-2.75). These results are of clinical significance for clinicians and advocacy organizations. Several factors may contribute to this increased risk of premature death, and more research mapping out these factors is needed. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  20. A Comparison of the Behavioural and Emotional Characteristics of Alzheimer's Dementia in Individuals with and without Down Syndrome

    Science.gov (United States)

    Temple, Valerie; Konstantareas, M. Mary

    2005-01-01

    The behavioural and emotional changes associated with Alzheimer's disease (AD) are compared for individuals with Down syndrome and AD and individuals with AD from the general population (AD-only). The primary caregivers of 30 people with Down syndrome and AD and 30 people with AD-only completed the BEHAVE-AD and the Apathy subscale of the CERAD.…

  1. Using Symbolic Interactionism Insights as an Approach to Helping the Individual with Asperger's Syndrome Overcome Barriers to Social Inclusion

    Science.gov (United States)

    Hughes, Paul

    2016-01-01

    This article outlines a case for using symbolic interactionism as a tool to help individuals with Asperger's syndrome reconcile situations in which communication might prove challenging. This study builds on previous work carried out by the author which describes an autoethnographical approach to help the individual with Asperger's syndrome gain…

  2. Individual monitoring in high-energy stray radiation fields

    International Nuclear Information System (INIS)

    Hoefert, M.; Stevenson, G.R.

    1995-01-01

    Due to the lack of passive or active devices that could be considered as personal dosemeters in high-energy stray fields one can at present only perform individual monitoring around high energy accelerators. Of all detectors currently available it is shown that the NTA film is the most suitable method for individually monitoring the neutron exposure of more than 3000 persons regularly, reliably, and cost effectively like at CERN. (author)

  3. A Review of the New European Technical Recommendations for Monitoring Individuals Occupationally Exposed to External Radiation

    International Nuclear Information System (INIS)

    Dijk, J.W.E. van; Alves, J.G.; Ambrosi, P.; Bartlett, D.T.; Currivan, L.; Fantuzzi, E.; Kamenopoulou, V.

    2013-01-01

    This paper reviews the revised Technical Recommendations for Monitoring Individuals Occupationally Exposed to External Radiation as issued by the European Commission as Radiation Protection 160. These recommendations are aimed at all stakeholders in radiation protection dosimetry with an emphasis in the responsible technical staff of approved dosimetry services. This paper briefly touches each Chapter and ends with a more in depth section on the uncertainty evaluation of dose measurements. -- Highlights: ► Recommendations on all aspects of running an approved dosimetry service. ► Radiation protection framework. ► Metrology of personal dosimeters. ► QC and QA of individual monitoring

  4. Granulocyte Colony-Stimulating Factor in the Treatment of Acute Radiation Syndrome: A Concise Review

    Czech Academy of Sciences Publication Activity Database

    Hofer, Michal; Pospíšil, Milan; Komůrková, Denisa; Hoferová, Zuzana

    2014-01-01

    Roč. 19, č. 4 (2014), s. 4770-4778 ISSN 1420-3049 R&D Projects: GA ČR(CZ) GAP303/11/0128 Institutional support: RVO:68081707 Keywords : granulocyte colony-stimulating factor * radiation accident s * acute radiation syndrome Subject RIV: BO - Biophysics Impact factor: 2.416, year: 2014

  5. New developments in the treatment of the acute radiation syndrome

    International Nuclear Information System (INIS)

    Wagemaker, G.

    1996-01-01

    Radiation accidents associated with the use of nuclear power, radiation devices and industrial applications have resulted in a number of individuals with significant partial or total body exposures, in a limited number with lethal outcome. Such exposures generally result in life-threatening suppression of bone marrow and immune functions and may be accompanied by high doses to the skin and underlying tissues. In recent years, new methods of diagnosis and treatment of such patients have entered development, while experience with relatively large-scale accidents, such as the Chernobyl cases, have clearly demonstrated the limitations of previous approaches. In particular bone marrow transplantation has met with limited success, mostly due to the inhomogeneous nature of accidental exposures as well as the frequent occurrence of other injuries other man bone marrow damage. Present day technology allows for direct estimates of the number of residual bone marrow stem cells to enable a rapid decision on the type of treatment indicated, while some twenty-five recombinant hemopoietic growth factors are under investigation to accelerate the recovery of white blood cells and platelets, as well as immune functions. If applied appropriately, such growth factor treatment will successfully replace bone marrow transplantation in the majority of accident cases. Advances in hemopoietic stem cell biology, both in terms of source of stem cells as well as their isolation, will on the other hand make stem cell infusion a much less risky operation than bone marrow transplantation has been in the past

  6. Anti-ceramide antibody prevents the radiation gastrointestinal syndrome in mice

    Science.gov (United States)

    Rotolo, Jimmy; Stancevic, Branka; Zhang, Jianjun; Hua, Guoqiang; Fuller, John; Yin, Xianglei; Haimovitz-Friedman, Adriana; Kim, Kisu; Qian, Ming; Cardó-Vila, Marina; Fuks, Zvi; Pasqualini, Renata; Arap, Wadih; Kolesnick, Richard

    2012-01-01

    Radiation gastrointestinal (GI) syndrome is a major lethal toxicity that may occur after a radiation/nuclear incident. Currently, there are no prophylactic countermeasures against radiation GI syndrome lethality for first responders, military personnel, or remediation workers entering a contaminated area. The pathophysiology of this syndrome requires depletion of stem cell clonogens (SCCs) within the crypts of Lieberkühn, which are a subset of cells necessary for postinjury regeneration of gut epithelium. Recent evidence indicates that SCC depletion is not exclusively a result of DNA damage but is critically coupled to ceramide-induced endothelial cell apoptosis within the mucosal microvascular network. Here we show that ceramide generated on the surface of endothelium coalesces to form ceramide-rich platforms that transmit an apoptotic signal. Moreover, we report the generation of 2A2, an anti-ceramide monoclonal antibody that binds to ceramide to prevent platform formation on the surface of irradiated endothelial cells of the murine GI tract. Consequently, we found that 2A2 protected against endothelial apoptosis in the small intestinal lamina propria and facilitated recovery of crypt SCCs, preventing the death of mice from radiation GI syndrome after high radiation doses. As such, we suggest that 2A2 represents a prototype of a new class of anti-ceramide therapeutics and an effective countermeasure against radiation GI syndrome mortality. PMID:22466649

  7. Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.

    Directory of Open Access Journals (Sweden)

    Ariel M Pani

    2010-08-01

    Full Text Available Intellectual disability (ID affects 2-3% of the population and may occur with or without multiple congenital anomalies (MCA or other medical conditions. Established genetic syndromes and visible chromosome abnormalities account for a substantial percentage of ID diagnoses, although for approximately 50% the molecular etiology is unknown. Individuals with features suggestive of various syndromes but lacking their associated genetic anomalies pose a formidable clinical challenge. With the advent of microarray techniques, submicroscopic genome alterations not associated with known syndromes are emerging as a significant cause of ID and MCA.High-density SNP microarrays were used to determine genome wide copy number in 42 individuals: 7 with confirmed alterations in the WS region but atypical clinical phenotypes, 31 with ID and/or MCA, and 4 controls. One individual from the first group had the most telomeric gene in the WS critical region deleted along with 2 Mb of flanking sequence. A second person had the classic WS deletion and a rearrangement on chromosome 5p within the Cri du Chat syndrome (OMIM:123450 region. Six individuals from the ID/MCA group had large rearrangements (3 deletions, 3 duplications, one of whom had a large inversion associated with a deletion that was not detected by the SNP arrays.Combining SNP microarray analyses and qPCR allowed us to clone and sequence 21 deletion breakpoints in individuals with atypical deletions in the WS region and/or ID or MCA. Comparison of these breakpoints to databases of genomic variation revealed that 52% occurred in regions harboring structural variants in the general population. For two probands the genomic alterations were flanked by segmental duplications, which frequently mediate recurrent genome rearrangements; these may represent new genomic disorders. While SNP arrays and related technologies can identify potentially pathogenic deletions and duplications, obtaining sequence information

  8. Kinematic Differences During Single-Leg Step-Down Between Individuals With Femoroacetabular Impingement Syndrome and Individuals Without Hip Pain.

    Science.gov (United States)

    Lewis, Cara L; Loverro, Kari L; Khuu, Anne

    2018-04-01

    Study Design Controlled laboratory study, case-control design. Background Despite recognition that femoroacetabular impingement syndrome (FAIS) is a movement-related disorder, few studies have examined dynamic unilateral tasks in individuals with FAIS. Objectives To determine whether movements of the pelvis and lower extremities in individuals with FAIS differ from those in individuals without hip pain during a single-leg step-down, and to analyze kinematic differences between male and female participants within groups. Methods Individuals with FAIS and individuals without hip pain performed a single-leg step-down while kinematic data were collected. Kinematics were evaluated at 60° of knee flexion. A linear regression analysis assessed the main effects of group, sex, and side, and the interaction of sex by group. Results Twenty individuals with FAIS and 40 individuals without hip pain participated. Individuals with FAIS performed the step-down with greater hip flexion (4.9°; 95% confidence interval [CI]: 0.5°, 9.2°) and anterior pelvic tilt (4.1°; 95% CI: 0.9°, 7.3°) than individuals without hip pain. Across groups, female participants performed the task with more hip flexion (6.1°; 95% CI: 1.7°, 10.4°), hip adduction (4.8°; 95% CI: 2.2°, 7.4°), anterior pelvic tilt (5.8°; 95% CI: 2.6°, 9.0°), pelvic drop (1.4°; 95% CI: 0.3°, 2.5°), and thigh adduction (2.7°; 95% CI: 1.3°, 4.2°) than male participants. Conclusion The results of this study suggest that individuals with FAIS have alterations in pelvic motion during a dynamic unilateral task. The noted altered movement patterns in the FAIS group may contribute to the development of hip pain and may be due to impairments that are modifiable through rehabilitation. J Orthop Sports Phys Ther 2018;48(4):270-279. Epub 6 Mar 2018. doi:10.2519/jospt.2018.7794.

  9. Higher levels of serum lycopene are associated with reduced mortality in individuals with metabolic syndrome.

    Science.gov (United States)

    Han, Guang-Ming; Meza, Jane L; Soliman, Ghada A; Islam, K M Monirul; Watanabe-Galloway, Shinobu

    2016-05-01

    Metabolic syndrome increases the risk of mortality. Increased oxidative stress and inflammation may play an important role in the high mortality of individuals with metabolic syndrome. Previous studies have suggested that lycopene intake might be related to the reduced oxidative stress and decreased inflammation. Using data from the National Health and Nutrition Examination Survey, we examined the hypothesis that lycopene is associated with mortality among individuals with metabolic syndrome. A total of 2499 participants 20 years and older with metabolic syndrome were divided into 3 groups based on their serum concentration of lycopene using the tertile rank method. The National Health and Nutrition Examination Survey from years 2001 to 2006 was linked to the mortality file for mortality follow-up data through December 31, 2011, to determine the mortality rate and hazard ratios (HR) for the 3 serum lycopene concentration groups. The mean survival time was significantly higher in the group with the highest serum lycopene concentration (120.6 months; 95% confidence interval [CI], 118.8-122.3) and the medium group (116.3 months; 95% CI, 115.2-117.4), compared with the group with lowest serum lycopene concentration (107.4 months; 95% CI, 106.5-108.3). After adjusting for possible confounding factors, participants in the highest (HR, 0.61; P = .0113) and in the second highest (HR, 0.67; P = .0497) serum lycopene concentration groups showed significantly lower HRs of mortality when compared with participants in the lower serum lycopene concentration. The data suggest that higher serum lycopene concentration has a significant association with the reduced risk of mortality among individuals with metabolic syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Home-based exercise may not decrease the insulin resistance in individuals with metabolic syndrome.

    Science.gov (United States)

    Chen, Chiao-Nan; Chuang, Lee-Ming; Korivi, Mallikarjuna; Wu, Ying-Tai

    2015-01-01

    This study investigated the differences in exercise self-efficacy, compliance, and effectiveness of home-based exercise in individuals with and without metabolic syndrome (MetS). One hundred and ten individuals at risk for diabetes participated in this study. Subjects were categorized into individuals with MetS and individuals without MetS. Metabolic risk factors and exercise self-efficacy were evaluated for all subjects before and after 3 months of home-based exercise. Univariate analysis of variance was used to compare the effectiveness of a home-based exercise program between individuals with and without MetS. The home-based exercise program improved body mass index and lipid profile in individuals at risk for diabetes, regardless of MetS status at baseline. Individuals without MetS had higher exercise self-efficacy at baseline and performed greater exercise volume compared with individuals with MetS during the intervention. The increased exercise volume in individuals without MetS may contribute to their better control of insulin resistance than individuals with MetS. Furthermore, baseline exercise self-efficacy was correlated with exercise volume executed by subjects at home. We conclude that home-based exercise programs are beneficial for individuals at risk for diabetes. However, more intensive and/or supervised exercise intervention may be needed for those with MetS.

  11. The Digestive System and Nutritional Considerations for Individuals with Rett Syndrome

    Directory of Open Access Journals (Sweden)

    Meir Lotan

    2006-01-01

    Full Text Available Rett syndrome (RS is a neurodevelopmental syndrome of genetic origin that mainly affects females. Individuals diagnosed with RS exhibit a variety of functional difficulties that impair their quality of life. One of the affected systems is the digestive system, where 74% of persons with RS have abnormal functioning. The affected digestive system causes this population to present an array of problems, such as gastroesophageal reflux (GER, constipation, and malnutrition, leading to failure to thrive (FTT, which resolves in reduced functional ability. Due to the severe effects of the dysfunctional digestive system of individuals with RS, this article will describe the problems common to this population, as well as propose some clinical suggestions for intervention. .

  12. The Digestive System and Nutritional Considerations for Individuals with Rett Syndrome

    Science.gov (United States)

    Lotan, Meir; Zysman, Lilit

    2006-01-01

    Rett syndrome (RS) is a neurodevelopmental syndrome of genetic origin that mainly affects females. Individuals diagnosed with RS exhibit a variety of functional difficulties that impair their quality of life. One of the affected systems is the digestive system, where 74% of persons with RS have abnormal functioning. The affected digestive system causes this population to present an array of problems, such as gastroesophageal reflux (GER), constipation, and malnutrition, leading to failure to thrive (FTT), which resolves in reduced functional ability. Due to the severe effects of the dysfunctional digestive system of individuals with RS, this article will describe the problems common to this population, as well as propose some clinical suggestions for intervention. . PMID:17195872

  13. Application of solar radiation for heating and preparation of warm water in an individual house

    International Nuclear Information System (INIS)

    Kozak, Tadeeusz; Majchrzycka, Anna

    2009-01-01

    The paper is aimed at analysis of application of the solar collectors array for preparing of warm water and space heating in an individual house. Keywords: application of solar radiation, preparation of warm water, heating

  14. Caries experience and salivary aspects in individuals with fragile X syndrome

    OpenAIRE

    AMARAL, Cristhiane Olívia Ferreira do; STRAIOTO, Fabiana Gouveia; NAPIMOGA, Marcelo Henrique; MARTINEZ, Elizabeth Ferreira

    2017-01-01

    Abstract Fragile X syndrome (FXS) is the most common cause of hereditary mental retardation, but studies on the oral health condition of these patients are rare. The aim of this study was to determine the experience of dental caries in individuals with FXS, by examining the saliva profile, oral hygiene, socioeconomic characteristics and use of controlled drugs in these patients. Dental health was estimated using the decayed, missing and filled teeth index (DMF-T) and sialometry, and the pH va...

  15. Orofacial-cervical alterations in individuals with upper airway resistance syndrome

    Directory of Open Access Journals (Sweden)

    Pedro Wey Barbosa de Oliveira

    Full Text Available ABSTRACT INTRODUCTION: Studies that assess the upper airways in sleep-related breathing disorders have been performed only in patients with obstructive sleep apnea syndrome who seek medical attention. Therefore, in addition to the need for population studies, there are no data on the orofacial-cervical physical examination in subjects with upper airway resistance syndrome. OBJECTIVES: To compare the orofacial-cervical examination between volunteers with upper airway resistance syndrome and without sleep-related breathing disorders. METHODS: Through questionnaires, physical measurements, polysomnography, and otorhinolaryngological evaluation, this study compared the orofacial-cervical physical examination, through a systematic analysis of the facial skeleton, mouth, throat, and nose, between volunteers with upper airway resistance syndrome and volunteers without sleep-related breathing disorders in a representative sample of the adult population of the city of São Paulo. RESULTS: There were 1042 volunteers evaluated; 49 subjects (5% were excluded as they did not undergo otorhinolaryngological evaluation, 381 (36% had apnea-hypopnea index > 5 events/hour, and 131 (13% had oxyhemoglobin saturation < 90%. Among the remaining 481 subjects (46%, 30 (3% met the criteria for the upper airway resistance syndrome definition and 53 (5% met the control group criteria. At the clinical evaluation of nasal symptoms, the upper airway resistance syndrome group had more oropharyngeal dryness (17% vs. 29.6%; p = 0.025 and septal deviation grades 1-3 (49.1% vs. 57.7%; p = 0.025 when compared to controls. In the logistic regression model, it was found that individuals from the upper airway resistance syndrome group had 15.6-fold higher chance of having nose alterations, 11.2-fold higher chance of being hypertensive, and 7.6-fold higher chance of complaining of oropharyngeal dryness when compared to the control group. CONCLUSION: Systematic evaluation of the facial

  16. Stiffness of the large arteries in individuals with and without Down syndrome

    Directory of Open Access Journals (Sweden)

    Nunes Rodrigues A

    2011-06-01

    Full Text Available Anabel N Rodrigues1,2, Luan Cesar Coelho1, Washington LS Goncalves1,2, Sonia Alves Gouvea2, Maria José Rossi Vasconcellos1, Roberto S Cunha2, Glaucia R Abreu21School of Medicine, University Center of Espírito Santo, Colatina; 2Postgraduate Program in Physiological Sciences, Center for Health Sciences, Federal University of Espirito Santo, Vitória, BrazilBackground: Down syndrome is known to cause premature aging in several organ systems. However, it remains unclear whether this aging effect also affects the structure and function of the large arterial trunks. In this controlled study, the possibility of changes in the large arteries due to aging was evaluated in patients with Down syndrome.Methods: Eighty-two subjects of both genders were selected. The Down syndrome group had 41 active subjects consisting of 19 males and 22 females (mean age 21 ± 1, range 13–42 years without cardiovascular complications and who did not use vasoactive drugs. The control group consisted of 41 healthy individuals without trisomy 21 of the same gender and age as the Down syndrome group and who did not use vasoactive medication. Carotid–femoral pulse wave velocity was obtained as an index of aortic stiffness using an automatic noninvasive method.Results: Individuals with Down syndrome had significantly lower blood pressure than those in the control group. Systolic blood pressure for the Down syndrome group and control group was 106 ± 2 mmHg vs 117 ± 2 mmHg (P < 0.001, respectively; diastolic blood pressure was 66 ± 2 mmHg vs 77 ± 2 mmHg (P <0.001; and mean arterial pressure was 80 ± 1 mmHg vs 90 ± 1 mmHg (P < 0.001. Only age and systolic blood pressure were shown to correlate significantly with pulse wave velocity, but the slopes of the linear regression curves of these two variables showed no significant difference between the two study groups. Pulse wave velocity, which was initially significantly lower in the Down syndrome group (7.51 ± 0.14 m/s vs

  17. Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Weinberger, Ronnie; Yi, James; Calkins, Monica; Guri, Yael; McDonald-McGinn, Donna M; Emanuel, Beverly S; Zackai, Elaine H; Ruparel, Kosha; Carmel, Miri; Michaelovsky, Elena; Weizman, Abraham; Gur, Ruben C; Gur, Raquel E; Gothelf, Doron

    2016-10-01

    The 22q11.2 deletion syndrome (22q11DS) is associated with increased rates of psychotic disorders and cognitive deficits, but large scale studies are needed to elucidate their interaction. The objective of this two-center study was to identify the neurocognitive phenotype of individuals with 22q11DS and psychotic disorders. We hypothesized that psychotic 22q11DS individuals compared to nonpsychotic deleted individuals would have more severe neurocognitive deficits, especially in executive function and social cognition. These deficits would be present when compared to IQ- matched individuals with Williams Syndrome (WS). Three groups were ascertained from the Tel Aviv and Philadelphia centers: 22q11DS individuals with a psychotic disorder (n=31), nonpsychotic 22q11DS (n=86) and typically-developing controls (TD, n=828). In Tel Aviv a group of individuals with WS (n=18) matched in IQ to the 22q11DS psychotic group was also included. The Penn Computerized Neurocognitive Battery (CNB) was used to assess a wide-range of cognitive functions and all patients underwent structured psychiatric evaluations. 22q11DS individuals performed poorly on all CNB domains compared to TD. Participants with 22q11DS and psychosis, compared to nonpsychotic 22q11DS, had more severe deficits in global neurocognitive performance (GNP), executive function, social cognition and episodic memory domains. The primary deficits were also significant when comparing the Tel Aviv 22q11DS psychotic group to IQ-matched individuals with WS. In conclusion, 22q11DS individuals with a psychotic disorder have specific neurocognitive deficits that are reliably identified cross nationality using the CNB. These cognitive dysfunctions should be further studied as potential endophenotypes of psychosis in 22q11DS and as targets for intervention. Copyright © 2016 Elsevier B.V. and ECNP. All rights reserved.

  18. The acute radiation syndrome: A study of ten cases and a review of the problem

    Energy Technology Data Exchange (ETDEWEB)

    Hempelmann, L.H.; Lisco, H.

    1950-03-17

    In this report ten cases of acute radiation syndrome are described resulting from two accidents occurring at the Los Alamos Scientific Laboratory of unique nature involving fissionable material. These cases are described in considerable detail. The report comprises ten sections. This volume, part II of the report, is comprised of sections entitled: (1) the Biological Basis for the Clinical Response seen in the Acute radiation Syndrome, (2) Clinical Signs and Symptoms, (3) Discussion of Hematological Findings, (4) Chemistry of the Blood and Urine, (5) Discussion of Pathological Findings, and (6) Reconsiderations of the Calculated Radiation Doses in Terms of the Observed Biological Response of the Patients. This report was prepared primarily for the clinician who is interested in radiation injuries and therefore emphasis has been placed on the correlation of clinical and pathological changes with the type of cytogenetic change known to be produced by ionizing radiation.

  19. Pretreatment with ascorbic acid prevents lethal gastrointestinal syndrome in mice receiving a massive amount of radiation

    International Nuclear Information System (INIS)

    Yamamoto, Tetsuo; Kinoshita, Manabu; Shinomiya, Nariyoshi; Hiroi, Sadayuki; Sugasawa, Hidekazu; Majima, Takashi; Seki, Shuhji; Matsushita, Yoshitaro; Saitoh, Daizoh

    2010-01-01

    While bone marrow or stem cell transplantation can rescue bone marrow aplasia in patients accidentally exposed to a lethal radiation dose, radiation-induced irreversible gastrointestinal damage (GI syndrome) is fatal. We investigated the effects of ascorbic acid on radiation-induced GI syndrome in mice. Ascorbic acid (150 mg/kg/day) was orally administered to mice for 3 days, and then the mice underwent whole body irradiation (WBI). Bone marrow transplantation (BMT) 24 h after irradiation rescued mice receiving a WBI dose of less than 12 Gy. No mice receiving 14 Gy-WBI survived, because of radiation-induced GI syndrome, even if they received BMT. However, pretreatment with ascorbic acid significantly suppressed radiation-induced DNA damage in the crypt cells and prevented denudation of intestinal mucosa; therefore, ascorbic acid in combination with BMT rescued mice after 14 Gy-WBI. DNA microarray analysis demonstrated that irradiation up-regulated expressions of apoptosis-related genes in the small intestine, including those related to the caspase-9-mediated intrinsic pathway as well as the caspase-8-mediated extrinsic pathway, and down-regulated expressions of these genes in ascorbic acid-pretreated mice. Thus, pretreatment with ascorbic acid may effectively prevent radiation-induced GI syndrome. (author)

  20. Effect of hippotherapy in the global motor coordination in individuals with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Valéria Sovat de Freitas Costa

    Full Text Available Abstract Introduction: Down syndrome (DS of all genetic syndromes is the most common. In Hippotherapy, three-dimensional movements, provided by horse walking, awaken in the body of children with DS a large amount of sensory and neuromuscular stimuli, which directly interfere with overall development and the acquisition of motor skills. Objective: To analyze the effects of an Hippotherapy program on global motor coordination variables in individuals with DS of both genders and to compare individuals with the same syndrome who do not practice Hippotherapy. Methods: 41 individuals participated in the study, 20 of them practicing Hippotherapy (EG and 21 who did not practice Hippotherapy (CG. The Körperkoordinations test für Kinder (KTK test was used, consisting of four tasks: Balance on beams, Single-lever jump, Side-jump and Transfer on platform for analysis of motor coordination for individuals. Results: Comparing the groups, a significant difference (p < 0.01 was observed for the Lateral Leap Motor Quotient, the EG presented a better score (114.10 than the CG (88.47, and also in the Total Motor Ratio (EG = 115.10, GC = 102.47. The individuals that practice Hippotherapy presented better results in the global motor coordination, with significant difference (p < 0.05. In EG, 5% had high global motor coordination, 40% good and 55% normal, whereas in CG only 10% had good global motor coordination and 90% normal global motor coordination. Conclusion: It can be emphasized that equine therapy presents benefits of improvement in global motor coordination. Specifically in tasks such as the balance beam, single jump and side jump, besides global motor coordination.

  1. Unusual case of recurrent SMART (stroke-like migraine attacks after radiation therapy syndrome

    Directory of Open Access Journals (Sweden)

    Ramnath Santosh Ramanathan

    2016-01-01

    Full Text Available Stroke-like migraine attacks after radiation therapy (SMART syndrome is a rare delayed complication of cerebral radiation therapy. A 53-year-old female initially presented with headache, confusion and left homonymous hemianopia. Her medical history was notable for cerebellar hemangioblastoma, which was treated with radiation in 1987. Her initial brain MRI (magnetic resonance imaging revealed cortical enhancement in the right temporo-parieto-occipital region. She improved spontaneously in 2 weeks and follow-up scan at 4 weeks revealed no residual enhancement or encephalomalacia. She presented 6 weeks later with aphasia. Her MRI brain revealed similar contrast-enhancing cortical lesion but on the left side. Repeat CSF studies was again negative other than elevated protein. She was treated conservatively and recovered completely within a week. Before diagnosing SMART syndrome, it is important to rule out tumor recurrence, encephalitis, posterior reversible encephalopathy syndrome (PRES and stroke. Typically the condition is self-limiting, and gradually resolves.

  2. Unusual case of recurrent SMART (stroke-like migraine attacks after radiation therapy) syndrome.

    Science.gov (United States)

    Ramanathan, Ramnath Santosh; Sreedher, Gayathri; Malhotra, Konark; Guduru, Zain; Agarwal, Deeksha; Flaherty, Mary; Leichliter, Timothy; Rana, Sandeep

    2016-01-01

    Stroke-like migraine attacks after radiation therapy (SMART) syndrome is a rare delayed complication of cerebral radiation therapy. A 53-year-old female initially presented with headache, confusion and left homonymous hemianopia. Her medical history was notable for cerebellar hemangioblastoma, which was treated with radiation in 1987. Her initial brain MRI (magnetic resonance imaging) revealed cortical enhancement in the right temporo-parieto-occipital region. She improved spontaneously in 2 weeks and follow-up scan at 4 weeks revealed no residual enhancement or encephalomalacia. She presented 6 weeks later with aphasia. Her MRI brain revealed similar contrast-enhancing cortical lesion but on the left side. Repeat CSF studies was again negative other than elevated protein. She was treated conservatively and recovered completely within a week. Before diagnosing SMART syndrome, it is important to rule out tumor recurrence, encephalitis, posterior reversible encephalopathy syndrome (PRES) and stroke. Typically the condition is self-limiting, and gradually resolves.

  3. Significant fibrosis after radiation therapy in a patient with Marfan Syndrome

    International Nuclear Information System (INIS)

    Suarez, Eva M.; Knackstedt, Rebecca J.; Jenrette, Joseph M.

    2014-01-01

    Marfan syndrome is one of the collagen vascular diseases that theoretically predisposes patients to excessive radiation-induced fibrosis yet there is minimal published literature regarding this clinical scenario. We present a patient with a history of Marfan syndrome requiring radiation for a diagnosis of a right brachial plexus malignant nerve sheath tumor. It has been suggested that plasma transforming growth factor beta 1 (TGF-beta1) can be monitored as a predictor of subsequent fibrosis in this population of high risk patients. We therefore monitored the patient's TGF-beta1 level during and after treatment. Despite maintaining stable levels of plasma TGF-beta1, our patient still developed extensive fibrosis resulting in impaired range of motion. Our case reports presents a review of the literature of patients with Marfan syndrome requiring radiation therapy and the limitations of serum markers on predicting long-term toxicity.

  4. Significant fibrosis after radiation therapy in a patient with Marfan Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Suarez, Eva M.; Knackstedt, Rebecca J.; Jenrette, Joseph M. [Medical University of South Carolina, Charleston (United States)

    2014-09-15

    Marfan syndrome is one of the collagen vascular diseases that theoretically predisposes patients to excessive radiation-induced fibrosis yet there is minimal published literature regarding this clinical scenario. We present a patient with a history of Marfan syndrome requiring radiation for a diagnosis of a right brachial plexus malignant nerve sheath tumor. It has been suggested that plasma transforming growth factor beta 1 (TGF-beta1) can be monitored as a predictor of subsequent fibrosis in this population of high risk patients. We therefore monitored the patient's TGF-beta1 level during and after treatment. Despite maintaining stable levels of plasma TGF-beta1, our patient still developed extensive fibrosis resulting in impaired range of motion. Our case reports presents a review of the literature of patients with Marfan syndrome requiring radiation therapy and the limitations of serum markers on predicting long-term toxicity.

  5. Radiation-induced camptocormia and dropped head syndrome. Review and case report of radiation-induced movement disorders

    International Nuclear Information System (INIS)

    Seidel, Clemens; Kuhnt, Thomas; Kortmann, Rolf-Dieter; Hering, Kathrin

    2015-01-01

    In recent years, camptocormia and dropped head syndrome (DHS) have gained attention as particular forms of movement disorders. Camptocormia presents with involuntary forward flexion of the thoracolumbar spine that typically increases during walking or standing and may severely impede walking ability. DHS is characterized by weakness of the neck extensors and a consecutive inability to extend the neck; in severe cases the head is fixed in a ''chin to chest position.'' Many diseases may underlie these conditions, and there have been some reports about radiation-induced camptocormia and DHS. A PubMed search with the keywords ''camptocormia,'' ''dropped head syndrome,'' ''radiation-induced myopathy,'' ''radiation-induced neuropathy,'' and ''radiation-induced movement disorder'' was carried out to better characterize radiation-induced movement disorders and the radiation techniques involved. In addition, the case of a patient developing camptocormia 23 years after radiation therapy of a non-Hodgkin's lymphoma of the abdomen is described. In total, nine case series of radiation-induced DHS (n = 45 patients) and - including our case - three case reports (n = 3 patients) about radiogenic camptocormia were retrieved. Most cases (40/45 patients) occurred less than 15 years after radiotherapy involving extended fields for Hodgkin's disease. The use of wide radiation fields including many spinal segments with paraspinal muscles may lead to radiation-induced movement disorders. If paraspinal muscles and the thoracolumbar spine are involved, the clinical presentation can be that of camptocormia. DHS may result if there is involvement of the cervical spine. To prevent these disorders, sparing of the spine and paraspinal muscles is desirable. (orig.) [de

  6. Radioprotective effect of Rapana thomasiana hemocyanin in gamma induced acute radiation syndrome

    International Nuclear Information System (INIS)

    Kindekov, Ivan; Vassilieva, Vladimir; Aljakova, Mitko; Mileva, Milka; Krastev, Dimo; Raynova, Yuliana; Idakieva, Krassimira; Doumanov, Lyuba

    2014-01-01

    The radioprotective effect of Rapana thomasiana hemocyanin (RtH) against radiation-induced injuries (stomach ulcers, survival time and endogenous haemopoiesis) and post-radiation recovery was investigated in male albino mice (C3H strain). Radiation course was in a dose of 7.5 Gy (LD 100/30 - dose that kills 100% of the mice at 30 days) from "1"3"7Cs with a dose of 2.05 Gy/ min. Radiation injuries were manifested by inducing 2 hematopoietic form of acute radiation syndrome. RtH was administered intraperitoneally in a single dose of 50, 100, 150 and 200 mg/kg body weight (b. w.) once a day for five consecutive days before irradiation. The results obtained showed that radiation exposure led to (1) 100% mortality rate, (2) ulceration in the stomach mucosa and (3) decrease formation of spleen colonies as a marker of endogenous haemopoiesis. Administration of RtH at a dose of 200 mg/kg provided better protection against radiation-induced stomach ulceration, mitigated the lethal effects of radiation exposure and recovered endogenous haemopoiesis versus irradiated but not supplemented mice. It could be expected that RtH will find a use in mitigating radiation induced injury and enhanced radiorecovery. Keywords: Rapana thomasiana hemocyanin; acute radiation syndrome; radioprotective effect; spleen colony assay; stomach ulcerations

  7. The Hematopoietic Syndrome of the Acute Radiation Syndrome in Rhesus Macaques: A Systematic Review of the Lethal Dose Response Relationship.

    Science.gov (United States)

    MacVittie, Thomas J; Farese, Ann M; Jackson, William

    2015-11-01

    Well characterized animal models that mimic the human response to potentially lethal doses of radiation are required to assess the efficacy of medical countermeasures under the criteria of the U.S. Food and Drug Administration "animal rule." Development of a model requires the determination of the radiation dose response relationship and time course of mortality and morbidity across the hematopoietic acute radiation syndrome. The nonhuman primate, rhesus macaque, is a relevant animal model that may be used to determine the efficacy of medical countermeasures to mitigate major signs of morbidity and mortality at selected lethal doses of total body irradiation. A systematic review of relevant studies that determined the dose response relationship for the hematopoietic acute radiation syndrome in the rhesus macaque relative to radiation quality, dose rate, and exposure uniformity has never been performed. The selection of data cohorts was made from the following sources: Ovid Medline (1957-present), PubMed (1954-present), AGRICOLA (1976-present), Web of Science (1954-present), and U.S. HHS REPORT (2002 to present). The following terms were used: Rhesus, total body-irradiation, total body x irradiation, TBI, irradiation, gamma radiation, hematopoiesis, LD50/60, Macaca mulatta, whole-body irradiation, nonhuman primate, NHP, monkey, primates, hematopoietic radiation syndrome, mortality, and nuclear radiation. The reference lists of all studies, published and unpublished, were reviewed for additional studies. The total number of hits across all search sites was 3,001. There were a number of referenced, unpublished, non-peer reviewed government reports that were unavailable for review. Fifteen studies, 11 primary (n = 863) and four secondary (n = 153) studies [n = 1,016 total nonhuman primates (NHP), rhesus Macaca mulatta] were evaluated to provide an informative and consistent review. The dose response relationships (DRRs) were determined for uniform or non-uniform total

  8. SMART Syndrome: Case report of a rare complication after cerebral radiation therapy

    International Nuclear Information System (INIS)

    Truntzer, P.; Salze, P.; Monjour, A.; Gaultier, C.; Ahle, G.; Guillerme, F.; Boutenbat, G.; Atlani, D.; Stilhart, B

    2012-01-01

    The authors report a 71-year-old woman case who developed, 7 years after a cerebral radiation therapy for a parieto-occipital glioblastoma, a stroke-like migraine attacks after radiotherapy syndrome (SMART syndrome), a rare complication characterized by reversible neurologic deficits with migraine described after cerebral irradiation. Transient gyri-form reversible enhancement is found on MRI during crises. This case report allows discussing the clinical, iconographic presentation and the clinical outcome of this syndrome at the light of the literature publication. (authors)

  9. Social-emotional instability in individuals with Rett syndrome: parents' experiences with second stage behaviour.

    Science.gov (United States)

    Munde, V; Vlaskamp, C; Ter Haar, A

    2016-01-01

    While the medical profession often terms behaviours in individuals with Rett syndrome (RTT) in the second stage as 'autistic-like', parents disagree with this description. The present study focuses on a comparison of parents' experiences with the social-emotional behaviour of the child with RTT in the second and subsequent stages. In collaboration with the Dutch Rett Syndrome Organization, 51 parents of children with RTT in the Netherlands took part in the present study. Parents completed an online questionnaire to clarify their experiences of the social-emotional behaviour of their children during and after the second stage of RTT. Both quantitative and qualitative analysis techniques have been used. The results of the paired-samples t-test show that parents see significantly less social-emotional behaviour in the children during the second stage of RTT than in the subsequent stages. Parents reported that their children did not seek as much interaction. From the parents' descriptions, it would seem that the children are willing but unable to interact with their environment. Like previous research, our study leads to doubts about the appropriateness of the label 'autistic-like' for the behaviour of individuals in the second stage of RTT. While behaviours of individuals with autism and individuals with RTT may resemble each other, quality and intentions may differ. Still, future studies are needed for further clarification. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  10. Abnormal auditory forward masking pattern in the brainstem response of individuals with Asperger syndrome

    Directory of Open Access Journals (Sweden)

    Johan Källstrand

    2010-05-01

    Full Text Available Johan Källstrand1, Olle Olsson2, Sara Fristedt Nehlstedt1, Mia Ling Sköld1, Sören Nielzén21SensoDetect AB, Lund, Sweden; 2Department of Clinical Neuroscience, Section of Psychiatry, Lund University, Lund, SwedenAbstract: Abnormal auditory information processing has been reported in individuals with autism spectrum disorders (ASD. In the present study auditory processing was investigated by recording auditory brainstem responses (ABRs elicited by forward masking in adults diagnosed with Asperger syndrome (AS. Sixteen AS subjects were included in the forward masking experiment and compared to three control groups consisting of healthy individuals (n = 16, schizophrenic patients (n = 16 and attention deficit hyperactivity disorder patients (n = 16, respectively, of matching age and gender. The results showed that the AS subjects exhibited abnormally low activity in the early part of their ABRs that distinctly separated them from the three control groups. Specifically, wave III amplitudes were significantly lower in the AS group than for all the control groups in the forward masking condition (P < 0.005, which was not the case in the baseline condition. Thus, electrophysiological measurements of ABRs to complex sound stimuli (eg, forward masking may lead to a better understanding of the underlying neurophysiology of AS. Future studies may further point to specific ABR characteristics in AS individuals that separate them from individuals diagnosed with other neurodevelopmental diseases.Keywords: asperger syndrome, auditory brainstem response, forward masking, psychoacoustics

  11. Dental care access among individuals with Down syndrome: a Malaysian scenario.

    Science.gov (United States)

    Abdul Rahim, Farah Salwa; Mohamed, Alizae Marny; Marizan Nor, Murshida; Saub, Roslan

    2014-11-01

    The purpose of this cross-sectional study was to assess the legal representatives' perceptions on dental care access of individuals with Down syndrome (DS) compared to their non-DS siblings in Peninsular Malaysia. This cross-sectional study was conducted throughout community-based rehabilitation centers (CBRC) and the Down Syndrome Organization. Legal representatives of individuals with DS within the criteria were given a structured and validated questionaire. This study demonstrated that individuals with DS (76.9%) significantly utilized more health services than non-DS siblings (23.1%). The service most regularly used was speech therapy followed by opthalmology and dental services. Twenty-five per cent of respondents reported difficulty in finding dental care services for their DS child and 46.9% admitted that healthcare for their DS child took more time. The majority of DS individuals received less complex dental treatment and none received any orthodontic treatment, despite their severe occlusal problems. A high proportion of parents appear to be able to access dental and medical care for their DS child. However, some parents perceived difficulty in finding oral healthcare.

  12. Radioprotection against radiation induced bone marrow syndrome by a semi-synthetic derivative of chlorophyll

    International Nuclear Information System (INIS)

    Suryavanshi, Shweta; Sharma, Deepak; Checker, Rahul; Santosh Kumar, S.; Sainis, Krishna B.

    2014-01-01

    A plethora of biological properties have been attributed to chlorophyllin (CHL), the water soluble derivative of the green plant pigment chlorophyll. Several studies are available describing its ability to modify genotoxic effects. It has been shown that administration CHL to human lymphopenic individuals led to the recovery and restoration of the immune system and also inhibited aflatoxin B1-DNA binding in individuals residing in high risk exposure to this liver carcinogen. The present study is aimed at establishing radioprotective efficacy of CHL against ionizing radiation induced hematopoietic syndrome. CHL offered complete protection against whole body irradiation (WBI, 7 Gy) induced mortality in mice. This observation was supported by increase in the number of macroscopic endogenous colonies enumerated on the surface of the spleens taken from CHL+WBI group as compared to WBI group. Radioprotection by CHL was found to be mediated by increasing the frequency of hematopoietic stem cells (HSCs) as evaluated by side population assay. Administration of CHL induced G1 arrest in bone marrow cells, increased number of granulocytes and neutrophils in the peripheral blood. At the molecular level, activation of ERK was observed in bone marrow cells obtained from CHL administered mice. In conclusion, CHL mediated radioprotection was attributed to increased stem cell numbers, G1 arrest in bone marrow cells, increased neutrophil numbers and ERK activation. (author)

  13. Investigation and analysis of etiology of down's syndrome in children of high background radiation area

    International Nuclear Information System (INIS)

    Zha Yongru

    1985-01-01

    In order to find out what caused the differences in incidences of Down's syndrome between the children in high background radiation area and those in control area, investigation and analysis were carried ou in 5 aspects based on the original data and the information from the previous survey. These are: the incidences of congenital malformations in normal areas, the age distribution of children examined, the maternal age, the dates of birth of afflicted children, and the radiation exposure of mothers. The results suggested that the higher incidence of Down's syndrome in high background area might be related to the materal age. Further studies are needed to arrive at a conclusion

  14. Outcome of radiation therapy for patients with Kasabach-Merritt syndrome

    International Nuclear Information System (INIS)

    Mitsuhashi, Norio; Furuta, Masaya; Sakurai, Hideyuki; Takahashi, Takeo; Kato, Shingo; Nozaki, Miwako; Saito, Yoshihiro; Hayakawa, Kazushige; Niibe, Hideo

    1997-01-01

    Purpose: The efficacy of radiation therapy for Kasabach-Merritt syndrome, which is characterized by a huge hemangioma with consumption coagulopathy, remains controversial. In this study, we retrospectively investigated the treatment outcome of radiation therapy for seven neonates with Kasabach-Merritt syndrome. Methods and Materials: During the past 25 years we have seen seven children with Kasabach-Merritt syndrome who were treated with radiation therapy. Their ages ranged from 1 day to 5 months, with a median age of 1 month. The hemangioma was located in the extremities in four of seven children. Tumor sizes ranged from 70 cm to more than 150 cm in greatest diameter. Initial platelet counts were all less than 40,000/mm 3 except for one patient. In principle, the total dose applied to the hemangioma was 8-10 Gy, with a daily dose of 1 Gy five times a week. Results: Four of seven hemangiomas responded dramatically, with a concomitant rise of the platelet count to radiation therapy. Although the remaining three hemangiomas, all of which were ill circumscribed by widespread overlying shiny, dusky purple skin, became less tense during radiation therapy. Disseminated intravascular coagulopathy was not improved, but they have responded favorably to two or three courses of radiation therapy with an extended radiation field by 1.5 years of age. As a result, all seven patients are now surviving with no evidence of hemangioma or hematological abnormalities. Shortening of the extremity was observed in three patients who received multiple courses of radiation therapy. Conclusions: Radiation therapy appears to be one of the effective treatment options for Kasabach-Merritt syndrome despite the risk of growth delay and malignancy

  15. Reevaluation of an individual's radiation exposure at NTS in 1963-64

    International Nuclear Information System (INIS)

    Myers, D.S.

    1983-01-01

    The FRAN prompt burst reactor began operation at NTS on November 1, 1962 and continued in use until April 1965. From January 2, 1963 to August 12, 1964, an individual periodically performed maintenance and troubleshooting functions on various components of the FRAN reactor system. In June, 1980, the individual requested a review of the radiation dose that he received from his involvement with the FRAN reactor. An evaluation of the individual's radiation dose associated with the FRAN reactor operation was performed. This report details the reevaluation of the individual's estimated radiation dose from the FRAN reactor assembly, as derived from computer calculations, GODIVA-IV measurements, personnel dosimetry results, and a reconstruction of work scenarios

  16. Associations between persistent organic pollutants and metabolic syndrome in morbidly obese individuals.

    Science.gov (United States)

    Dusanov, S; Ruzzin, J; Kiviranta, H; Klemsdal, T O; Retterstøl, L; Rantakokko, P; Airaksinen, R; Djurovic, S; Tonstad, S

    2018-03-13

    Persons with "metabolically healthy" obesity may develop cardiometabolic complications at a lower rate than equally obese persons with evident metabolic syndrome. Even morbidly obese individuals vary in risk profile. Persistent organic pollutants (POPs) are widespread environmental chemicals that impair metabolic homeostasis. We explored whether prevalence of metabolic syndrome in morbidly obese individuals is associated with serum concentrations of POPs. A cross-sectional study among 161 men and 270 women with BMI >35 kg/m 2 and comorbidity, or >40 kg/m 2 . Circulating concentrations of 15 POPs were stratified by number of metabolic syndrome components. In multiple logistic regression analysis odds ratios between top quartile POPs and metabolic risk factors versus POPs below the top quartile were calculated adjusting for age, gender, body mass index, smoking status, alcohol consumption and cholesterol concentrations. Age-adjusted concentrations of trans-nonachlor and dioxin-like and non-dioxin-like polychlorinated biphenyls (PCBs) increased with number of metabolic syndrome components in both genders (p metabolic syndrome as were dioxin-like and non-dioxin-like PCBs (OR 2.3 [95% CI 1.3-4.0]; OR 2.5 [95% CI 1.3-4.8] and 2.0 [95% CI 1.1-3.8], respectively). Organochlorine pesticides were associated with HDL cholesterol and glucose (OR = 2.0 [95% CI = 1.1-3.4]; 2.4 [95% CI = 1.4-4.0], respectively). Dioxin-like PCBs were associated with diastolic blood pressure, glucose and homeostatic model assessment-insulin resistance index (OR = 2.0 [95% CI = 1.1-3.6], 2.1 [95% CI = 1.2-3.6] and 2.1 [95% CI = 1.0-4.3], respectively). In subjects with morbid obesity, metabolic syndrome was related to circulating levels of organochlorine pesticides and PCBs suggesting that these compounds aggravate clinically relevant complications of obesity. Copyright © 2018 The Italian Society of Diabetology, the Italian Society for the Study of Atherosclerosis, the Italian

  17. Acute Radiation Syndrome (ARS) and its harmful effects on human health

    International Nuclear Information System (INIS)

    Khanam, Yasmin; Singh, Yogender

    2012-01-01

    After radiation exposure a series of many clinical syndromes appear that is called as Acute Radiation Syndrome (ARS). ARS also known as radiation toxicology or radiation sickness. Both low and higher doses radiation exposure on human body cause different types of radiation syndromes. These radiations may be ionizing radiations. X-rays and gamma rays etc. some times neutrons or radionuclides may also be deposited in human body and their effective doses cause major injuries or abnormalities even sometimes death also. ARS consist of a sequence of phased symptoms. These symptoms appear after the radiation exposure for several days to several months or sometimes for a long period or years. ARS depends on the quantity of absorbed radiation dose (rad0). ARS is characterized by an initial prodromal stage of malaise, nausea, vomiting, and diarrhea. Critical effects of ARS are Hematologic, that results infections to low white blood cells (WBC), bleeding due to low platelets and anemia due to low red blood cells (RBC), Gastrointestinal results nausea, vomiting, loss of appetite and abdominal pain (exposure doses of 600-1000 rad) and Neurovascular depending on the exposure dose. Neurovascular syndrome typically occurs at exposure doses greater than 1000 rad. It presents with neurological symptoms such as dizziness, headache, or decreased level of consciousness with an absence of vomiting. The clinical course of radiation sickness following a single intensive exposure to whole body radiation is characterized by three successive phases; a prodromal phase, which develops within minutes or hours after exposure, an ensuring latent period, which is relatively asymptomatic; and the main phase of the illness. Complete Blood Count (CBC) are helpful for the diagnosis for ARS. ARS may cause skin damage or loss of epidermis. Person suffering from nausea, vomiting, diarrhea should be admitted to well equipped hospitals or clinics. High exposured persons should be analysed CBC. Their

  18. Individual radiation response of parotid glands investigated by dynamic 11C-methionine PET

    International Nuclear Information System (INIS)

    Buus, Simon; Grau, Cai; Munk, Ole Lajord; Rodell, Anders; Jensen, Kenneth; Mouridsen, Kim; Keiding, Susanne

    2006-01-01

    Background and Purpose: Previously, we showed that the net metabolic clearance of 11 C-methionine of the parotid gland, K, calculated from dynamic 11 C-methionine PET, can be used as a measure of parotid gland function. The aim of this study was to investigate by dynamic 11 C-methionine PET the individual radiation dose response relationship of parotid glands in head and neck cancer patients. Patients and methods: Twelve head and neck cancer patients were examined by dynamic 11 C-methionine PET after radiotherapy. Parametric images of K were generated, co-registered and compared voxel-by-voxel with the 3D radiation dose plan within the parotid gland to assess the individual radiation dose-function relationship. Results: In each patient, voxel-values of K decreased with increasing radiation dose. Population based analysis showed a sigmoid dose response relationship of parotid gland, from which we estimated a threshold radiation dose of 16 Gy and a mean TD 5 of 30 Gy. TD 5 ranged from 7 to 50 Gy in the group of patients. Conclusions: Individual radiation dose response of parotid glands can be measured by dynamic 11 C-methionine PET. The dose response analysis revealed a sigmoid relationship, a threshold radiation dose of 16 Gy, and a mean TD 5 of 30 Gy

  19. Inter-individual cognitive variability in children with Asperger’s syndrome

    Directory of Open Access Journals (Sweden)

    Maria Luz Gonzalez-Gadea

    2014-07-01

    Full Text Available Multiple studies have tried to establish the distinctive profile of individuals with Asperger’s syndrome (AS. However, recent reports suggest that adults with AS feature heterogeneous cognitive profiles. The present study explores inter-individual variability in children with AS through group comparison and multiple case series analysis. All participants completed an extended battery including measures of fluid and crystallized intelligence, executive functions, theory of mind, and classical neuropsychological tests. Significant group differences were found in theory of mind and other domains related to global information processing. However, the AS group showed high inter-individual variability (both sub- and supra-normal performance on most cognitive tasks. Furthermore, high fluid intelligence correlated with less general cognitive impairment, high cognitive flexibility, and speed motor processing. In light of these findings, we propose that children with AS are characterized by a distinct, uneven pattern of cognitive strengths and weaknesses.

  20. Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome.

    Science.gov (United States)

    Yamaga, Masaya; Takemoto, Minoru; Takada-Watanabe, Aki; Koizumi, Naoko; Kitamoto, Takumi; Sakamoto, Kenichi; Ishikawa, Takahiro; Koshizaka, Masaya; Maezawa, Yoshiro; Yokote, Koutaro

    2017-08-01

    To determine recent trends in mutation patterns in the WRN gene, which cause Werner syndrome (WS), a rare, inheritable progeroid syndrome in Japan. Retrospective cohort. Longitudinal survey of WS and literature search for case reports. Individuals whose genetic testing their facilities had requested between 2009 and October 2016 (N = 67). A nationwide epidemiological study was conducted from 2009 to 2011 to improve understanding of the pathology of WS and develop therapeutic guidelines. Since 2009, Chiba University Hospital consecutively evaluated the WRN gene in 67 individuals throughout Japan who had requested genetic testing. A literature search was also conducted for case reports on Japanese WS reported since 1997. A definitive diagnosis of WS was confirmed genetically in 50 of 67 participants. Through the literature search, 16 individuals diagnosed genetically with WS were identified. Of these 66 individuals with WS, 42 were homozygous for a WRN mutation, and 21 were compound heterozygotes. One novel mutant allele was identified in an individual with the compound heterozygous genotype. The proportion of compound heterozygotes (31.8%) was significantly greater than reported previously (14.2%), indicating that the incidence of consanguineous marriage of parents has decreased. The increased frequency of individuals with WS with the compound heterozygous genotype is a recent trend in Japan. A long-term follow-up study on WRN homozygotes and compound heterozygotes will allow the relationship between WRN genotype and clinical severity of WS to be evaluated in the future. © 2017, Copyright the Authors Journal compilation © 2017, The American Geriatrics Society.

  1. Low Triiodothyronine Syndrome in Patients With Radiation Enteritis

    Science.gov (United States)

    Fan, Shengxian; Ni, Xiaodong; Wang, Jian; Zhang, Yongliang; Tao, Shen; Chen, Mimi; Li, Yousheng; Li, Jieshou

    2016-01-01

    Abstract The implications of low triiodothyronine syndrome (LT3S) in patients with radiation enteritis (RE) have not been properly investigated. As such, we conducted this cohort study to investigate the association between LT3S and RE, to explore the etiology of LT3S in RE, to evaluate the clinical features and clinical outcomes of LT3S patients, and to inspect the correlation of clinical variables and LT3S in RE. This prospective study included 39 RE patients. Medical records and various laboratory parameters (including thyroidal, tumorous, nutritional, and radiotherapy variables) were collected in all participants. Our results showed that the incidence of LT3S was 84.6% in patients with RE. Total protein (71.7 ± 5.7 vs 63.2 ± 9.6 g/L, P = 0.04) and albumin (ALB, 46.0 ± 4.6 vs 38.7 ± 5.3 g/L, P = 0.01) were significantly lower in LT3S group compared with those in euthyroid group. Standard thyroid-stimulating hormone index (−0.89 ± 2.11 vs −2.39 ± 1.33, P = 0.03) and sum activity of deiodinases (19.74 ± 4.19 vs 12.55 ± 4.32 nmol/L, P = 0.01) were significantly lower in LT3S group. Patients with LT3S suffered longer duration of hospitalization (48.25 ± 23.29 days in LT3S vs 26.75 ± 10.56 days in euthyroid, P = 0.036). Low serum ALB (β = 0.694, 95% CI = 0.007–0.190, P = 0.037) was the only significant predictor of LT3S. LT3S was common in RE patients. A hypodeiodination condition and a potential pituitary-thyrotroph dysfunction might play a role in the pathophysiology of LT3S in RE. Worse nutritional status and clinical outcomes were confirmed in RE patients with LT3S. Furthermore, total protein and ALB were observed as protective and differentiating parameters of LT3S in RE. In summary, this was the 1st investigation to evaluate the clinical correlation between RE and LT3S, investigate the prevalence of LT3S in RE, and explore the pathogenesis of LT3S, despite the

  2. Clinical radiation diagnostics of shoulder joint impingement syndrome

    International Nuclear Information System (INIS)

    Litvin, Yu.P.; Logvinenko, V.V.

    2014-01-01

    46 patients about an impingement are investigated by a syndrome of a humeral joint. Among them men was 28 (60,9 %) the person, women 18 (39,1 %). Middle age of the surveyed has made 52,6 ± 2,0 year. The traditional roentgenography is executed to all patients, a spiral computer tomography - 5 (10,9 %), an ultrasonography - 44 (95,7 %), a magnetic resonance imaging - 11 (23,9 %). Operative treatment is spent 16 (34,8 %) by the patient. Direct radial symptoms are what specify an impingement of a syndrome of a humeral joint in the reasons, indirect - symptoms of an inflammation both degenerate and dystrophic changes of structures of area of a humeral joint which are involved in pathological process. The best results are given by complex radial research at which it is possible to find out direct and indirect symptoms a syndrome impingement

  3. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.

    Science.gov (United States)

    Armour, C M; Allanson, J E

    2008-04-01

    Cardio-facio-cutaneous syndrome (CFC) is a multiple congenital anomaly/mental retardation syndrome named because of a characteristic facies, cardiac anomalies, and ectodermal abnormalities. While considerable literature describes the main features, few studies have documented the frequencies of less common features allowing a greater appreciation of the full phenotype. We have analysed clinical data on 38 individuals with CFC and a confirmed mutation in one of the genes known to cause the condition. We provide data on well-established features, and those that are less often described. Polyhydramnios (77%) and prematurity (49%) were common perinatal issues. 71% of individuals had a cardiac anomaly, the most common being pulmonary valve stenosis (42%), hypertrophic cardiomyopathy (39%), and atrial septal defect (28%). Hair anomalies were also typical: 92% had curly hair, 84% sparse hair, and 86% absent or sparse eyebrows. The most frequent cutaneous features were keratosis pilaris (73%), hyperkeratosis (61%) and nevi (76%). Significant and long lived gastrointestinal dysmotility (71%), seizures (49%), optic nerve hypoplasia (30%) and renal anomalies, chiefly hydronephrosis (20%), were among the less well known issues reported. This study reports a broad range of clinical issues in a large cohort of individuals with molecular confirmation of CFC.

  4. Prevalence of Dental Anomalies in Permanent Dentition of Brazilian Individuals with Down Syndrome.

    Science.gov (United States)

    Cuoghi, Osmar Aparecido; Topolski, Francielle; Perciliano de Faria, Lorraine; Occhiena, Carla Machado; Ferreira, Nancy Dos Santos Pinto; Ferlin, Camila Ribeiro; Rogério de Mendonça, Marcos

    2016-01-01

    The aim of this study was to evaluate the incidence of dental anomalies in the permanent dentition of individuals with Down Syndrome (DS) to increase the knowledge on the dental issues in this syndrome. One hundred and five panoramic X-rays of patients with DS (61 males and 44 females), aged 7 to 42 years were used. The data were statistically analyzed using bivariate analyses test ( p Dental anomalies were observed in 50.47% of the sample. More than one anomaly was observed in 9.52% of the individuals. The most frequent dental anomalies were hypodontia and microdontia (16.19%), followed by retained tooth (10.47%), taurodontism (9.52%), supernumerary teeth (5.71%), macrodontia (2.85%) and root dilaceration (0.95%). There was no statistically significant difference between genders for any of the anomalies. A high prevalence of dental anomalies was observed in individuals with DS. The results of the present study reinforce the importance of good dental care, offering a greater basis for professionals who provide dental service to these patients.

  5. Relationship Between Two Common Lipoprotein Lipase Variants and the Metabolic Syndrome and Its Individual Components

    DEFF Research Database (Denmark)

    Vishram, Julie K. K.; Hansen, Tine W; Torp-Pedersen, Christian

    2016-01-01

    BACKGROUND: Common lipoprotein lipase (LPL) variants are important determinants of triglycerides (TG) and high-density lipoprotein (HDL) cholesterol (C) concentrations. High TG/low HDL-C tend to cluster with hypertension, glucose intolerance, and abdominal obesity and comprise the metabolic...... syndrome (MetS). The role of LPL variants as a cause of MetS is unclear. This study investigated the relationship between two common LPL variants and the presence of MetS and its individual components. METHODS: Cross-sectional study, including 2348 Danish women (50.7%) and men, age 41-72 years, without...

  6. Manual on the medical management of individuals involved in radiation accidents

    International Nuclear Information System (INIS)

    Swindon, T.N.

    1991-09-01

    This manual is concerned with accidents or emergencies which involve sources of ionizing radiation. It does not cover other forms of radiation such as non-ionizing radiation (ultra-violet, light, radiofrequency radiations), heat, etc. Most radiation accidents have involved individuals either at the workplace or with medical misadministrations; they have received external exposure from X-ray or gamma-ray sources or have been contaminated with radioactive material. A few members of the public have also been involved through misadventures with radioactive sources although these may not be thought of as accidents; more commonly, they are referred to as 'incidents'. For the purpose of this manual, there is not differentiation between an accident and an incident, as the medical care required is the same in both situations. Some of the reference papers are reprinted at the back of the manual. 17 refs., 12 tabs., 9 figs

  7. Somnolence syndrome after cranial radiation in children with lymphatic leukemia

    International Nuclear Information System (INIS)

    Novaes, P.E.R.S.; Camargo, B. de; Cusato, M.P.; Bianchi, A.; Peres, O.

    1985-01-01

    Thirty-five children with acute lymphocytic leukemia were reviewed to study the incidence of somnolence syndrome. Fourteen evaluable patients received 1,800 rad (12x150 rad) and twenty-one similar evaluable patients received 2,400 rad (16x150 rad). For both groups the same chemotherapy schedule including intratecal methotrexate was admnistered. (M.A.C.) [pt

  8. Preliminary early evaluation of radiation acute syndrome severity in an animal model

    Energy Technology Data Exchange (ETDEWEB)

    Gimenez, J.C.; Nasazzi, N.B.; Taja, M.R. [Comision Nacional de Energia Atomica, (Argentina); Nagle, C. [Centro de Educacion Medica e Investigaciones Clinicas (Argentina); Dubner, D. [Comision Nacional de Energia Atomica, (Argentina); Di Rizzio, C. [Academia Nacional de Medicina (Argentina)

    1992-07-01

    To improve the knowledge of Radiation Acute Syndrome radiopathological picture, whole body x-rays irradiation at 2Gy of a primate (Cebus apella paraguayanus) used as model has been performed. Early evaluations of clinical symptoms and dose and damage biological indicators have shown that this primate has given out similar responses to those of man. (author)

  9. Preliminary early evaluation of radiation acute syndrome severity in an animal model

    International Nuclear Information System (INIS)

    Gimenez, J.C.; Nasazzi, N.B.; Taja, M.R.; Nagle, C.; Dubner, D.; Di Rizzio, C.

    1992-01-01

    To improve the knowledge of Radiation Acute Syndrome radiopathological picture, whole body x-rays irradiation at 2Gy of a primate (Cebus apella paraguayanus) used as model has been performed. Early evaluations of clinical symptoms and dose and damage biological indicators have shown that this primate has given out similar responses to those of man. (author)

  10. Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study

    DEFF Research Database (Denmark)

    Petersen, Helle Vendel; Esplen, Mary Jane; Ladelund, Steen

    2011-01-01

    An increasing number of individuals seek genetic counseling and hereby learn about hereditary cancer in the family. Lynch syndrome is associated with an inherited high risk for colorectal and gynecological cancer, but knowledge about how family members at risk perceive their situation is limited....... We used the national Danish HNPCC register to collect data on self-concept from 413 individuals with Lynch syndrome. The recently developed Lynch syndrome self-concept scale contains 20 items within two subscales related to stigma-vulnerability and bowel symptom-related anxiety. Significantly higher...... more often reported by women (odds ratio 1.8) and by individuals with less education (OR 1.8). This study provides the first extended use of the Lynch syndrome self-concept scale and suggests that the majority of the Danish mutation carriers adapt well to the situation, though knowledge about...

  11. Prevalence of Metabolic Syndrome and Its Individual Components Among Midwestern University Students.

    Science.gov (United States)

    Yahia, Najat; Brown, Carrie A; Snyder, Ericka; Cumper, Stephanie; Langolf, Andrea; Trayer, Chelsey; Green, Chelsea

    2017-08-01

    Michigan has the 17th highest adult obesity rate in the United States. Among college-aged adults between 18 and 25 years old, the rate of obesity was 11.6%. Obesity is a key precedent for the development of metabolic syndrome. Accordingly, the purpose of this study was to examine the prevalence of metabolic syndrome and its individual components among a sample of students at Central Michigan University. A cross-sectional survey was conducted among 462 students, aged 18-25 years, in Spring 2015 and Fall/Spring 2016 semesters. Students were recruited throughout the campus via flyers, in-class, and Blackboard announcements. Biochemical, anthropometric, and blood pressure measurements were taken for all students. Prevalence of metabolic syndrome was estimated based on the National Cholesterol Education Program's Adult Treatment Panel III guidelines. Multivariable analysis was used to assess the prevalence of metabolic risk components. To explore the association between metabolic risk factors and lifestyle behaviors, students filled out a validated online questionnaire related to their eating habits, physical activity, and sleep patterns. Metabolic syndrome was not prevalent in our sample. However, about one-third of the students had at least one metabolic abnormality, and 6.0% had two metabolic abnormalities. The most common metabolic abnormalities were low HDL-cholesterol levels (22.0%) and high waist circumference (12.6%), and elevated serum triglyceride (5.8%). Adjusting for other factors, excess adiposity and high visceral fat scores were associated with increased risk of metabolic risk factors, whereas healthy lifestyle practices such as daily breakfast consumption, eating three meals a day, being active, and not smoking were associated with lower risks for MetS. Given the adverse consequences of undiagnosed metabolic abnormalities, efforts to identify and manage MetS among asymptomatic college students, particularly women, is essential and warrants further

  12. Resting-State Functional Connectivity in Individuals with Down Syndrome and Williams Syndrome Compared with Typically Developing Controls.

    Science.gov (United States)

    Vega, Jennifer N; Hohman, Timothy J; Pryweller, Jennifer R; Dykens, Elisabeth M; Thornton-Wells, Tricia A

    2015-10-01

    The emergence of resting-state functional connectivity (rsFC) analysis, which examines temporal correlations of low-frequency (syndrome (DS) compared with another neurodevelopmental disorder, Williams syndrome (WS), and TD. Ten subjects with DS, 18 subjects with WS, and 40 subjects with TD each participated in a 3-Tesla MRI scan. We tested for group differences (DS vs. TD, DS vs. WS, and WS vs. TD) in between- and within-network rsFC connectivity for seven functional networks. For the DS group, we also examined associations between rsFC and other cognitive and genetic risk factors. In DS compared with TD, we observed higher levels of between-network connectivity in 6 out 21 network pairs but no differences in within-network connectivity. Participants with WS showed lower levels of within-network connectivity and no significant differences in between-network connectivity relative to DS. Finally, our comparison between WS and TD controls revealed lower within-network connectivity in multiple networks and higher between-network connectivity in one network pair relative to TD controls. While preliminary due to modest sample sizes, our findings suggest a global difference in between-network connectivity in individuals with neurodevelopmental disorders compared with controls and that such a difference is exacerbated across many brain regions in DS. However, this alteration in DS does not appear to extend to within-network connections, and therefore, the altered between-network connectivity must be interpreted within the framework of an intact intra-network pattern of activity. In contrast, WS shows markedly lower levels of within-network connectivity in the default mode network and somatomotor network relative to controls. These findings warrant further investigation using a task-based procedure that may help disentangle the relationship between brain function and cognitive performance across the spectrum of neurodevelopmental disorders.

  13. Development of the national register of radiation workers: subsystem for individual monitoring of external exposure

    International Nuclear Information System (INIS)

    Yu Haitao; Niu Haowei; Sun Quanfu; Fu Yinghua; Fan Yaohua; Yue Baorong

    2010-01-01

    Objective: To develop a national registry and reporting system of individual monitoring for workers occupationally exposed to ionizing radiation. Methods: In accordance with the relevant law, regulations, standards and the current health supervision practice for radiation workers in China, to ensure more effective collection of information on individual monitoring from all levels of service providers across the country and an easy query and analysis of the collected information for both service providers and administrative institutions, the register consisted of an offline-system and a web-based information system. The off-line system consisted of 8 tables, which could easily make annual and period monitoring reports, and upload individual monitoring data in compressed and encrypted format. Web-based system consisted of 6 modules, could easily make S customized tabulations of monitoring data and show 2 trend figures. SSLVPN secure remote access was used in the system. Arranged by the Ministry of Health, training courses provided to all individual monitoring service providers and provincial administrative institutions. Results: A new and individual-based national register and reporting system of individual monitoring for workers occupationally exposed to ionizing radiation was successfully developed, and would be officially run soon. Conclusions: The establishment and running of the register would be great improvement on the national radiological health reports and produce a far-reaching impact on the individual monitoring in China. (authors)

  14. Elastins from patients with Williams-Beuren syndrome and healthy individuals differ on the molecular level

    DEFF Research Database (Denmark)

    Heinz, Andrea; Huertas, Angela C Mora; Schräder, Christoph U

    2016-01-01

    Williams-Beuren syndrome (WBS) is a congenital disorder, which involves the heterozygous deletion of the elastin gene and other genes on chromosome 7. Clinical symptoms that are associated with hemizygosity of the essential extracellular matrix protein elastin include premature aging of the skin...... and supravalvular aortic stenosis. However, only little is known about the molecular basis of structural abnormalities in the connective tissue of WBS patients. Therefore, for the first time this study aimed to systematically characterize and compare the structure and amount of elastin present in skin and aortic...... tissue from WBS patients and healthy individuals. Elastin fibers were isolated from tissue biopsies, and it was found that skin of WBS patients contains significantly less elastin compared to skin of healthy individuals. Scanning electron microscopy and mass spectrometric measurements combined...

  15. Life Satisfaction Among Mothers of Individuals with Prader-Willi Syndrome.

    Science.gov (United States)

    Shivers, Carolyn M; Leonczyk, Caroline L; Dykens, Elisabeth M

    2016-06-01

    Mothers of individuals with Prader-Willi syndrome (PWS) often experience numerous stressors, even when compared to mothers of children with other intellectual and developmental disabilities. Despite this, these mothers show great variability in self-reported life satisfaction. Using data from a longitudinal study of individuals with PWS and their families, the present study analyzed factors related to maternal life satisfaction, both cross-sectionally and over time. Results show that both child factors (e.g., behavior problems, hyperphagia) and maternal factors (e.g., stress, coping style) were significantly related to maternal life satisfaction. However, none of the tested variables predicted change in life satisfaction over time. Research and practice implications are discussed.

  16. Reliability of contractile properties of the knee extensor muscles in individuals with post-polio syndrome.

    Directory of Open Access Journals (Sweden)

    Eric L Voorn

    Full Text Available To assess the reliability of contractile properties of the knee extensor muscles in 23 individuals with post-polio syndrome (PPS and 18 age-matched healthy individuals.Contractile properties of the knee extensors were assessed from repeated electrically evoked contractions on 2 separate days, with the use of a fixed dynamometer. Reliability was determined for fatigue resistance, rate of torque development (MRTD, and early and late relaxation time (RT50 and RT25, using the intraclass correlation coefficient (ICC and standard error of measurement (SEM, expressed as % of the mean.In both groups, reliability for fatigue resistance was good, with high ICCs (>0.90 and small SEM values (PPS: 7.1%, healthy individuals: 7.0%. Reliability for contractile speed indices varied, with the best values found for RT50 (ICCs>0.82, SEM values <2.8%. We found no systematic differences between test and retest occasions, except for RT50 in healthy subjects (p = 0.016.In PPS and healthy individuals, the reliability of fatigue resistance, as obtained from electrically evoked contractions is high. The reliability of contractile speed is only moderate, except for RT50 in PPS, demonstrating high reliability.This was the first study to examine the reliability of electrically evoked contractile properties in individuals with PPS. Our results demonstrate its potential to study mechanisms underlying muscle fatigue in PPS and to evaluate changes in contractile properties over time in response to interventions or from natural course.

  17. Music lessons are associated with increased verbal memory in individuals with Williams syndrome.

    Science.gov (United States)

    Dunning, Brittany A; Martens, Marilee A; Jungers, Melissa K

    2014-11-16

    Williams syndrome (WS) is a genetic disorder characterized by intellectual delay and an affinity for music. It has been previously shown that familiar music can enhance verbal memory in individuals with WS who have had music training. There is also evidence that unfamiliar, or novel, music may also improve cognitive recall. This study was designed to examine if a novel melody could also enhance verbal memory in individuals with WS, and to more fully characterize music training in this population. We presented spoken or sung sentences that described an animal and its group name to 44 individuals with WS, and then tested their immediate and delayed memory using both recall and multiple choice formats. Those with formal music training (average duration of training 4½ years) scored significantly higher on both the spoken and sung recall items, as well as on the spoken multiple choice items, than those with no music training. Music therapy, music enjoyment, age, and Verbal IQ did not impact performance on the memory tasks. These findings provide further evidence that formal music lessons may impact the neurological pathways associated with verbal memory in individuals with WS, consistent with findings in typically developing individuals. Copyright © 2014 Elsevier Ltd. All rights reserved.

  18. Chemical effects and their consequences for individuals occupationally exposed to ionizing radiation

    International Nuclear Information System (INIS)

    Salvador, C.; Kahl, G.G.; Kühn, P.; Zottis, A.D.; Flôr, R.C.

    2017-01-01

    By legal determination, workers exposed to ionizing radiation should use individual dosimeters in the most exposed region of the body, designed to estimate the effective dose, as well as radiation protective clothing to minimize occupational exposures. Regarding dosimetry, in most cases it is perceived that the monthly values of exposure are within the limits of normality, however, even being below the limit can not rule out the possibility of damage that the low dose of ionizing radiation can cause. The objective of this article is to highlight the main chemical effects caused by exposure to ionizing radiation, especially biochemical damage in DNA, chromosomal aberrations and the correlation with the exposure of occupationally exposed individuals, as well as individuals from the public. A bibliographic search was carried out in indexed databases from February to April 2017 with the following descriptors: Radiation Ionizing, DNA Damage and Occupational Exposure. In the 'Science Direct' database were found 1205 articles, in the 'Scopus' 19 articles, in the 'Web of Science' 83 articles, in the 'PubMed' 22 articles and in the 'VHL' 60 articles related to the theme. It was concluded that exposure to ionizing radiation can affect the DNA molecule despite its repair mechanisms, which may result in genotoxicity. It has been reported a correlation between occupationally exposed individuals and chromosomal aberrations, demonstrating that even low doses of ionizing radiation can compromise the genetic material integrity of exposed workers, leading to the need for a periodic cytogenetic study for this group of workers

  19. Radiation-induced camptocormia and dropped head syndrome. Review and case report of radiation-induced movement disorders

    Energy Technology Data Exchange (ETDEWEB)

    Seidel, Clemens; Kuhnt, Thomas; Kortmann, Rolf-Dieter; Hering, Kathrin [Leipzig University, Department of Radiotherapy and Radiation Oncology, Leipzig (Germany)

    2015-10-15

    In recent years, camptocormia and dropped head syndrome (DHS) have gained attention as particular forms of movement disorders. Camptocormia presents with involuntary forward flexion of the thoracolumbar spine that typically increases during walking or standing and may severely impede walking ability. DHS is characterized by weakness of the neck extensors and a consecutive inability to extend the neck; in severe cases the head is fixed in a ''chin to chest position.'' Many diseases may underlie these conditions, and there have been some reports about radiation-induced camptocormia and DHS. A PubMed search with the keywords ''camptocormia,'' ''dropped head syndrome,'' ''radiation-induced myopathy,'' ''radiation-induced neuropathy,'' and ''radiation-induced movement disorder'' was carried out to better characterize radiation-induced movement disorders and the radiation techniques involved. In addition, the case of a patient developing camptocormia 23 years after radiation therapy of a non-Hodgkin's lymphoma of the abdomen is described. In total, nine case series of radiation-induced DHS (n = 45 patients) and - including our case - three case reports (n = 3 patients) about radiogenic camptocormia were retrieved. Most cases (40/45 patients) occurred less than 15 years after radiotherapy involving extended fields for Hodgkin's disease. The use of wide radiation fields including many spinal segments with paraspinal muscles may lead to radiation-induced movement disorders. If paraspinal muscles and the thoracolumbar spine are involved, the clinical presentation can be that of camptocormia. DHS may result if there is involvement of the cervical spine. To prevent these disorders, sparing of the spine and paraspinal muscles is desirable. (orig.) [German] In den letzten Jahren haben Bewegungsstoerungen von Wirbelsaeule und paraspinaler Muskulatur in

  20. Toward the elucidation of factors concerning the individual difference of radiation sensitivity, and the reduction of radiation risks

    International Nuclear Information System (INIS)

    Nenoi, Mitsuru; Nakajima, Tetsuo; Wang, Bing

    2013-01-01

    This article describes studies aiming at the title subject and contains 2 topics of genetic and non-genetic factors modifying the radiation sensitivity. The ultimate purposes of those studies are the introduction of individual weighting factor to correct the individual differences of the sensitivity (IDS) and the practical control of the sensitivity-concerned factors, in the field of medical exposure. For genetic factors, described are studies on factors modifying the sensitivity at DNA repair and on the control of the sensitivity through the DNA repairing factors. The former, using cultured cells, aims at identifying protein (gene) of possible biomarker for IDS in non-homologous end-joining (NHEJ), an important mechanism in repairing the double strand break of DNA. Ku protein is found as the candidate. The latter has revealed that cells lacking Artemis, XRCC4 or MDC1 gene are highly sensitive, and are planning to suppress Artemis activity artificially, which may lead to the reduction of radiation cancer formation due to the death of highly sensitive cells. For non-genetic factors, described are studies on the life habits modifying the sensitivity, on the control of the sensitivity through the radiation-induced adaptive response and with steroid hormone. In the first, in mice treated with high-calorie diet and X-irradiation, a possible radiation response is suggested in the hepatic DNA-methylation and micro-RNA. Second, the combination of radiation adaptive response in the genome damage and restriction of diet ingestion is shown to lower the sensitivity of mice with use of C, Ne ion or X-ray irradiation. Third, in studies on the radiation-induced formation and condensation of breast cancer stem cells in the presence of progesterone, the hormone is found to produce micro-RNA molecules relating with the suppression of cellular senescence and repressed carcinogenesis with over-expression of apoptosis inhibitory molecules. (T.T.)

  1. Experimental study of possible therapy of the acute radiation syndrome

    International Nuclear Information System (INIS)

    Willborn, M.

    1981-01-01

    These experimental studies showed that the survival time of rats, irradiated in a whole-body irradiation with 3000 rad 60 Co-gamma, can be positively influenced by the administration of an antibiotic and also by glucocorticoids. Contrary to our expectations, the combined application of the glucocorticoid and the antibiotic did not increase the survival time of the animals with gastrointestinal syndromes compared with the exclusive administration of the antibiotic. The mineral corticoid aldosterone resulted to be ineffective. (orig.) [de

  2. Radiation-induced leiomyosarcoma of the great vessels presenting as superior vena cava syndrome

    International Nuclear Information System (INIS)

    Weiss, K.S.; Zidar, B.L.; Wang, S.

    1987-01-01

    A patient with a pleomorphic intravascular leiomyosarcoma of the great vessels of the neck and mediastinum presented clinically with a superior vena cava syndrome. A latent period of 29 years elapsed between receiving orthovoltage radiation to the neck and right side of chest to treat recurrent ganglioneuroblastoma, and the appearance of a leiomyosarcoma and subsequent recurrences. The patient underwent partial resection of the tumor, received adjunct chemotherapy, and was shown to be free of disease by clinical tests and by magnetic resonance imaging (MRI) 17 months after completion of chemotherapy. The criteria for the diagnosis of radiation-induced sarcomas are reviewed in relation to the present case. The critical role of magnetic resonance imaging in both the diagnosis and continued follow-up of the patient is described. This would appear to be the first reported case of radiation-induced intravascular leiomyosarcoma of the great vessels of the neck and mediastinum presenting as a superior vena cava syndrome

  3. Assessment of objectively measured physical activity levels in individuals with intellectual disabilities with and without Down's syndrome.

    Directory of Open Access Journals (Sweden)

    Alexander C Phillips

    Full Text Available To investigate, using accelerometers, the levels of physical activity being undertaken by individuals with intellectual disabilities with and without Down's syndrome.One hundred and fifty two individuals with intellectual disabilities aged 12-70 years from East and South-East England. Physical activity levels in counts per minute (counts/min, steps per day (steps/day, and minutes of sedentary, light, moderate, vigorous, and moderate to vigorous physical activity (MVPA measured with a uni-axial accelerometer (Actigraph GT1M for seven days.No individuals with intellectual disabilities met current physical activity recommendations. Males were more active than females. There was a trend for physical activity to decline and sedentary behaviour to increase with age, and for those with more severe levels of intellectual disability to be more sedentary and less physically active, however any relationship was not significant when adjusted for confounding variables. Participants with Down's syndrome engaged in significantly less physical activity than those with intellectual disabilities without Down's syndrome and levels of activity declined significantly with age.Individuals with intellectual disabilities, especially those with Down's syndrome may be at risk of developing diseases associated with physical inactivity. There is a need for well-designed, accessible, preventive health promotion strategies and interventions designed to raise the levels of physical activity for individuals with intellectual disabilities. We propose that there are physiological reasons why individuals with Down's syndrome have particularly low levels of physical activity that also decline markedly with age.

  4. Immuno-therapy of Acute Radiation Syndromes : Extracorporeal Immuno-Lympho-Plasmo-Sorption.

    Science.gov (United States)

    Popov, Dmitri; Maliev, Slava

    Methods Results Summary and conclusions Introduction: Existing Medical Management of the Acute Radiation Syndromes (ARS) does not include methods of specific immunotherapy and active detoxication. Though the Acute Radiation Syndromes were defined as an acute toxic poisonous with development of pathological processes: Systemic Inflammatory Response Syndrome (SIRS), Toxic Multiple Organ Injury (TMOI), Toxic Multiple Organ Dysfunction Syndrome(TMODS), Toxic Multiple Organ Failure (TMOF). Radiation Toxins of SRD Group play an important role as the trigger mechanisms in development of the ARS clinical symptoms. Methods: Immuno-Lympho-Plasmo-Sorption is a type of Immuno-therapy which includes prin-ciples of immunochromato-graphy, plasmopheresis, and hemodialysis. Specific Antiradiation Antitoxic Antibodies are the active pharmacological agents of immunotherapy . Antiradia-tion Antitoxic Antibodies bind selectively to Radiation Neurotoxins, Cytotoxins, Hematotox-ins and neutralize their toxic activity. We have developed the highly sensitive method and system for extracorporeal-immune-lypmh-plasmo-sorption with antigen-specific IgG which is clinically important for treatment of the toxic and immunologic phases of the ARS. The method of extracorporeal-immune-lypmh-plasmo-sorption includes Antiradiation Antitoxic Antibodies (AAA) immobilized on microporous polymeric membranes with a pore size that is capable to provide diffusion of blood-lymph plasma. Plasma of blood or lymph of irradiated mammals contains Radiation Toxins (RT) that have toxic and antigenic properties. Radiation Toxins are Antigen-specific to Antitoxic blocking antibodies (Immunoglobulin G). Plasma diffuses through membranes with immobilized AAA and AA-antibodies bind to the polysaccharide chain of tox-ins molecules and complexes of AAA-RT that are captured on membrane surfaces. RT were removed from plasma. Re-transfusion of plasma of blood and lymph had been provided. We show a statistical significant

  5. Bone marrow stromal cell transplantation mitigates radiation-induced gastrointestinal syndrome in mice.

    Directory of Open Access Journals (Sweden)

    Subhrajit Saha

    Full Text Available Nuclear accidents and terrorism presents a serious threat for mass casualty. While bone-marrow transplantation might mitigate hematopoietic syndrome, currently there are no approved medical countermeasures to alleviate radiation-induced gastrointestinal syndrome (RIGS, resulting from direct cytocidal effects on intestinal stem cells (ISC and crypt stromal cells. We examined whether bone marrow-derived adherent stromal cell transplantation (BMSCT could restitute irradiated intestinal stem cells niche and mitigate radiation-induced gastrointestinal syndrome.Autologous bone marrow was cultured in mesenchymal basal medium and adherent cells were harvested for transplantation to C57Bl6 mice, 24 and 72 hours after lethal whole body irradiation (10.4 Gy or abdominal irradiation (16-20 Gy in a single fraction. Mesenchymal, endothelial and myeloid population were characterized by flow cytometry. Intestinal crypt regeneration and absorptive function was assessed by histopathology and xylose absorption assay, respectively. In contrast to 100% mortality in irradiated controls, BMSCT mitigated RIGS and rescued mice from radiation lethality after 18 Gy of abdominal irradiation or 10.4 Gy whole body irradiation with 100% survival (p<0.0007 and p<0.0009 respectively beyond 25 days. Transplantation of enriched myeloid and non-myeloid fractions failed to improve survival. BMASCT induced ISC regeneration, restitution of the ISC niche and xylose absorption. Serum levels of intestinal radioprotective factors, such as, R-Spondin1, KGF, PDGF and FGF2, and anti-inflammatory cytokines were elevated, while inflammatory cytokines were down regulated.Mitigation of lethal intestinal injury, following high doses of irradiation, can be achieved by intravenous transplantation of marrow-derived stromal cells, including mesenchymal, endothelial and macrophage cell population. BMASCT increases blood levels of intestinal growth factors and induces regeneration of the irradiated

  6. Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers-Danlos syndrome or hypermobility syndrome and their siblings.

    Science.gov (United States)

    Cederlöf, Martin; Larsson, Henrik; Lichtenstein, Paul; Almqvist, Catarina; Serlachius, Eva; Ludvigsson, Jonas F

    2016-07-04

    To assess the risk of psychiatric disorders in Ehlers-Danlos syndrome (EDS) and hypermobility syndrome. Nationwide population-based matched cohort study. EDS, hypermobility syndrome and psychiatric disorders were identified through Swedish national registries. Individuals with EDS (n = 1,771) were matched with comparison individuals (n = 17,710). Further, siblings to individuals with EDS who did not have an EDS diagnosis themselves were compared with matched comparison siblings. Using conditional logistic regression, risk of autism spectrum disorder (ASD), bipolar disorder, attention deficit hyperactivity disorder (ADHD), depression, attempted suicide, suicide and schizophrenia were estimated. The same analyses were conducted in individuals with hypermobility syndrome (n = 10,019) and their siblings. EDS was associated with ASD: risk ratio (RR) 7.4, 95 % confidence interval (95 % CI) 5.2-10.7; bipolar disorder: RR 2.7, CI 1.5-4.7; ADHD: RR 5.6, CI 4.2-7.4; depression: RR 3.4, 95 % CI 2.9-4.1; and attempted suicide: RR 2.1, 95 % CI 1.7-2.7, but not with suicide or schizophrenia. EDS siblings were at increased risk of ADHD: RR 2.1, 95 % CI 1.4-3.3; depression: RR 1.5, 95 % CI 1.1-1.8; and suicide attempt: RR 1.8, 95 % CI 1.4-2.3. Similar results were observed for individuals with hypermobility syndrome and their siblings. Individuals with EDS and hypermobility syndrome are at increased risks of being diagnosed with psychiatric disorders. These risk increases may have a genetic and/or early environmental background as suggested by evidence showing that siblings to patients have elevated risks of certain psychiatric disorders.

  7. Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study

    DEFF Research Database (Denmark)

    Petersen, Helle Vendel; Esplen, Mary Jane; Ladelund, Steen

    2011-01-01

    . We used the national Danish HNPCC register to collect data on self-concept from 413 individuals with Lynch syndrome. The recently developed Lynch syndrome self-concept scale contains 20 items within two subscales related to stigma-vulnerability and bowel symptom-related anxiety. Significantly higher...... total scores, indicating a greater impact on self-concept, were reported by females and by individuals with experience from cancer in close relatives, whereas individuals with less formal education scored significantly higher on the stigma and vulnerability subscale. Scores in the upper quartile were...... more often reported by women (odds ratio 1.8) and by individuals with less education (OR 1.8). This study provides the first extended use of the Lynch syndrome self-concept scale and suggests that the majority of the Danish mutation carriers adapt well to the situation, though knowledge about...

  8. Radiological protection. Technical recommendations for monitoring the exposure of individuals to external radiation

    International Nuclear Information System (INIS)

    1975-01-01

    Advice is given on the assessment of personal doses received by each worker. The objectives of individual monitoring programs and the requirements which personal dosemeters should satisfy are given. The paper is mainly concerned with assessment of doses due to photon and electron radiations

  9. Wood metal. A material of interest for the preparation of individual collimators and radiation protective means

    International Nuclear Information System (INIS)

    Schumann, E.; Keiner, P.; Klose, E.

    1978-01-01

    On the grounds of its physical properties Wood metal is suitable for the preparation of individual collimators, shields and other radiation protective means in clinical radiology. Advantages and disadvantages of these self-made protective means are discussed. Its use for constructing special shielding elements and filters applied in radiotherapy as well as for shielding syringes applied in nuclear medicine is demonstrated. (author)

  10. Effect of prolonged stress on the adrenal hormones of individuals with irritable bowel syndrome.

    Science.gov (United States)

    Sugaya, Nagisa; Izawa, Shuhei; Saito, Keisuke; Shirotsuki, Kentaro; Nomura, Shinobu; Shimada, Hironori

    2015-01-01

    The purpose of this study was to investigate the effect of prolonged stress on the salivary adrenal hormones (cortisol, dehydroepiandrosterone [DHEA], DHEA-sulfate [DHEA-S]) of individuals with irritable bowel syndrome (IBS). The participants were female college students, including 10 with IBS and 16 without IBS (control group), who were scheduled for a 2-week teaching practice at a kindergarten. Participants were asked to collect saliva for determining adrenal hormones immediately and 30 min after awakening and before sleep, 2 weeks before the practice, the first week of the practice, the second week of the practice, and a few days after the practice. Regarding cortisol/DHEA ratio, significantly increased levels were found during the first week of the practice, and a significant interaction between group and time was found; the ratio at 30 min after awakening in the IBS group was higher than that in the control group. For the other adrenal hormone indexes, no significant differences due to the presence of IBS were found. Individuals with IBS showed an elevated cortisol/DHEA ratio after awakening compared with individuals without IBS, and the elevated ratio peaked under the prolonged stress. The present study suggests that the cortisol effect is dominant in individuals with IBS under prolonged stress.

  11. Examining the impact of obesity on individuals with chronic fatigue syndrome.

    Science.gov (United States)

    Flores, Samantha; Brown, Abigail; Adeoye, Samuel; Jason, Leonard A; Evans, Meredyth

    2013-07-01

    Chronic fatigue syndrome (CFS) is a complex disorder affecting multiple body systems. The most commonly used definition of CFS is 6 or more months of fatigue and the presence of at least four of eight minor symptoms. In addition, many health and psychological conditions, including severe obesity-body mass index (BMI) of 40 kg/m(2) or greater-exclude individuals from a diagnosis of CFS. Obesity has been correlated with fatigue, sleep problems, and less satisfaction with general health, functioning, and vitality. The current study investigated weight trends over time in a community-based sample of individuals with CFS and healthy controls. The study further investigated the impact of comorbid weight issues on several health and disability outcomes in a subset of overweight individuals. Overweight and obese individuals with CFS demonstrated poorer functioning than controls who were similarly weighted. One participant was excluded because she had gained weight at a monitoring visit and her BMI was greater than 40 kg/m(2). The implications of these findings for health care workers are discussed. Copyright 2013, SLACK Incorporated.

  12. Memory for self-performed actions in individuals with Asperger syndrome.

    Directory of Open Access Journals (Sweden)

    Tiziana Zalla

    2010-10-01

    Full Text Available Memory for action is enhanced if individuals are allowed to perform the corresponding movements, compared to when they simply listen to them (enactment effect. Previous studies have shown that individuals with Autism Spectrum Disorders (ASD have difficulties with processes involving the self, such as autobiographical memories and self performed actions. The present study aimed at assessing memory for action in Asperger Syndrome (AS. We investigated whether adults with AS would benefit from the enactment effect when recalling a list of previously performed items vs. items that were only visually and verbally experienced through three experimental tasks (Free Recall, Old/New Recognition and Source Memory. The results showed that while performance on Recognition and Source Memory tasks was preserved in individuals with AS, the enactment effect for self-performed actions was not consistently present, as revealed by the lower number of performed actions being recalled on the Free Recall test, as compared to adults with typical development. Subtle difficulties in encoding specific motor and proprioceptive signals during action execution in individuals with AS might affect retrieval of relevant personal episodic information. These disturbances might be associated to an impaired action monitoring system.

  13. Mindfulness Is Associated with the Metabolic Syndrome among Individuals with a Depressive Symptomatology

    Directory of Open Access Journals (Sweden)

    Erika Guyot

    2018-02-01

    Full Text Available The Metabolic Syndrome (MetS is a major public health burden. Dispositional mindfulness has recently been associated with eating disorders, being overweight, and could therefore be associated with the MetS. We aimed to examine in a cross-sectional design the relationship between mindfulness, the MetS, and its risk factors in a large sample of the adult general population and the influence of depressive symptomatology on this association. Adults participating in the NutriNet-Santé study who had completed the Five Facets Mindfulness Questionnaire and attended a clinical and biological examination were available for inclusion. Multivariable logistic regression models adjusted for socio-demographic and lifestyle factors were performed. A total of 17,490 individuals were included. Among individuals with a depressive symptomatology, those with higher mindfulness were less likely to have a MetS (OR: 0.73, 95% CI: 0.57–0.93, a high waist circumference, a low HDL-cholesterol level and an elevated fasting blood glucose level (all p <0.05. In those without depressive symptomatology, individuals with higher mindfulness were less likely to have a high waist circumference (p <0.01. In conclusion, higher mindfulness was associated with lower odds of developing a MetS only among individuals with a depressive symptomatology.

  14. Predicting and preventing ovarian hyperstimulation syndrome (OHSS: the need for individualized not standardized treatment

    Directory of Open Access Journals (Sweden)

    Fiedler Klaus

    2012-04-01

    Full Text Available Abstract Ovarian hyperstimulation syndrome (OHSS is the most serious complication of controlled ovarian stimulation (COS as part of assisted reproductive technologies (ART. While the safety and efficacy of ART is well established, physicians should always be aware of the risk of OHSS in patients undergoing COS, as it can be fatal. This article will briefly present the pathophysiology of OHSS, including the key role of vascular endothelial growth factor (VEGF, to provide the foundation for an overview of current techniques for the prevention of OHSS. Risk factors and predictive factors for OHSS will be presented, as recognizing these risk factors and individualizing the COS protocol appropriately is the key to the primary prevention of OHSS, as the benefits and risks of each COS strategy vary among individuals. Individualized COS (iCOS could effectively eradicate OHSS, and the identification of hormonal, functional and genetic markers of ovarian response will facilitate iCOS. However, if iCOS is not properly applied, various preventive measures can be instituted once COS has begun, including cancelling the cycle, coasting, individualizing the human chorionic gonadotropin trigger dose or using a gonadotropin-releasing hormone (GnRH agonist (for those using a GnRH antagonist protocol, the use of intravenous fluids at the time of oocyte retrieval, and cryopreserving/vitrifying all embryos for subsequent transfer in an unstimulated cycle. Some of these techniques have been widely adopted, despite the scarcity of data from randomized clinical trials to support their use.

  15. Face recognition performance of individuals with Asperger syndrome on the Cambridge Face Memory Test.

    Science.gov (United States)

    Hedley, Darren; Brewer, Neil; Young, Robyn

    2011-12-01

    Although face recognition deficits in individuals with Autism Spectrum Disorder (ASD), including Asperger syndrome (AS), are widely acknowledged, the empirical evidence is mixed. This in part reflects the failure to use standardized and psychometrically sound tests. We contrasted standardized face recognition scores on the Cambridge Face Memory Test (CFMT) for 34 individuals with AS with those for 42, IQ-matched non-ASD individuals, and age-standardized scores from a large Australian cohort. We also examined the influence of IQ, autistic traits, and negative affect on face recognition performance. Overall, participants with AS performed significantly worse on the CFMT than the non-ASD participants and when evaluated against standardized test norms. However, while 24% of participants with AS presented with severe face recognition impairment (>2 SDs below the mean), many individuals performed at or above the typical level for their age: 53% scored within +/- 1 SD of the mean and 9% demonstrated superior performance (>1 SD above the mean). Regression analysis provided no evidence that IQ, autistic traits, or negative affect significantly influenced face recognition: diagnostic group membership was the only significant predictor of face recognition performance. In sum, face recognition performance in ASD is on a continuum, but with average levels significantly below non-ASD levels of performance. Copyright © 2011, International Society for Autism Research, Wiley-Liss, Inc.

  16. Memory for self-performed actions in individuals with Asperger syndrome.

    Science.gov (United States)

    Zalla, Tiziana; Daprati, Elena; Sav, Anca-Maria; Chaste, Pauline; Nico, Daniele; Leboyer, Marion

    2010-10-12

    Memory for action is enhanced if individuals are allowed to perform the corresponding movements, compared to when they simply listen to them (enactment effect). Previous studies have shown that individuals with Autism Spectrum Disorders (ASD) have difficulties with processes involving the self, such as autobiographical memories and self performed actions. The present study aimed at assessing memory for action in Asperger Syndrome (AS). We investigated whether adults with AS would benefit from the enactment effect when recalling a list of previously performed items vs. items that were only visually and verbally experienced through three experimental tasks (Free Recall, Old/New Recognition and Source Memory). The results showed that while performance on Recognition and Source Memory tasks was preserved in individuals with AS, the enactment effect for self-performed actions was not consistently present, as revealed by the lower number of performed actions being recalled on the Free Recall test, as compared to adults with typical development. Subtle difficulties in encoding specific motor and proprioceptive signals during action execution in individuals with AS might affect retrieval of relevant personal episodic information. These disturbances might be associated to an impaired action monitoring system.

  17. Individual sensitivity to radiations and DNA repair proficiency: the comet assay contribution; Sensibilite individuelle aux radiations et reparation de l`ADN: apport du test des cometes

    Energy Technology Data Exchange (ETDEWEB)

    Alapetite, C. [Institut Curie, 75 - Paris (France)

    1998-09-01

    Some are hereditary syndromes demonstrate high cancer risk and hypersensitivity in response to exposures to agents such as ultraviolet or ionising radiation, and are characterized by a defective processing of DNA damage. They highlight the importance of the individual risk associated to exposures. The comet assay, a simple technique that detects DNA strand breaks, requires few cells and allows examination of DNA repair capacities in established cell lines, in blood samples or biopsies. The assay has been validated on cellular systems with known repair defects such as xeroderma pigmentosum defective in nucleotide excision repair, on mutant rodent cell lines defective in DNA single strand breaks rejoining (XRCC5/Ku80 and XRCC7/DNAPKcs) (neutral conditions). This assay does not allow to distinguish a defective phenotype in ataxia telangiectasia cells. It shows in homozygous mouse embryo fibroblasts Brca2-/- an impaired DNA double strand break rejoining. Simplicity, rapidity and sensitivity of the alkaline comet assay allow to examine the response of lymphocytes. It has been applied to the analysis of the role of DNA repair in the pathogenesis of collagen diseases, and the involvement of individual DNA repair proficiency in the thyroid tumorigenesis induced in some patients after therapeutic irradiation at childhood has been questioned. Preliminary results of these studies suggest that this type of approach could help for adapting treatment modalities and surveillance in subgroups of patients defective in DNA repair process. It could also have some incidence in the radioprotection field. (author)

  18. The health promotion lifestyle of metabolic syndrome individuals with a diet and exercise programme.

    Science.gov (United States)

    Lin, Yu-Hua; Chu, Li-Ling

    2014-04-01

    The purpose of this study was to explore a health promotion lifestyle (HPL) with a diet and exercise programme (DEP) in metabolic syndrome adults. The study consisted of 207 individuals who followed a DEP and 185 who did not. The subjects were rural community adults. Their HPL was evaluated using the Chinese version of the Health Promotion Lifestyle Profile Short Form (HPLP-S). The average HPLP-S score was significantly higher in the DEP group (3.28 ± 0.36) than in the group without the DEP (2.05 ± 0.65). Stepwise regression analysis revealed that group, gender, smoking, alcohol use, marital status, religion and chronic disease were predictors of an HPL and accounted for 67.0% of the variance in the HPLP-S score. This study demonstrates that a DEP has positive effects on a health promotion lifestyle. The community-based DEP targeting health promotion behaviours should be presented as a strategy for metabolic syndrome in adults. © 2013 Wiley Publishing Asia Pty Ltd.

  19. Two-point discrimination and kinesthetic sense disorders in productive age individuals with carpal tunnel syndrome.

    Science.gov (United States)

    Wolny, Tomasz; Saulicz, Edward; Linek, Paweł; Myśliwiec, Andrzej

    2016-06-16

    The aim of this study was to evaluate two-point discrimination (2PD) sense and kinesthetic sense dysfunctions in carpal tunnel syndrome (CTS) patients compared with a healthy group. The 2PD sense, muscle force, and kinesthetic differentiation (KD) of strength; the range of motion in radiocarpal articulation; and KD of motion were assessed. The 2PD sense assessment showed significantly higher values in all the examined fingers in the CTS group than in those in the healthy group (p<0.01). There was a significant difference in the percentage value of error in KD of pincer and cylindrical grip (p<0.01) as well as in KD of flexion and extension movement in the radiocarpal articulation (p<0.01) between the studied groups. There are significant differences in the 2PD sense and KD of strength and movement between CTS patients compared with healthy individuals.

  20. In vivo Evaluation of Patellar Tendon Stiffness in Individuals with Patellofemoral Pain Syndrome

    Directory of Open Access Journals (Sweden)

    Hsin-Yi Liu

    2008-01-01

    Full Text Available The objective of this study was to utilise an ultrasonic technique to assess the effect of patellofemoral pain syndrome (PFPS on the mechanical properties of the patellar tendon. Seven subjects with PFPS and seven matched control subjects volunteered to participate in this study. Subjects were asked to perform isometric maximal voluntary contractions of the knee extensors while their knee extension torque was monitored and the displacement of the patellar tendon was recorded with an ultrasonic system. Our results showed significantly lower tendon stiffness (by ∼30% in the PFPS subjects. Although tendon secant modulus was lower by 34% in the PFPS subjects, the difference was not statistically significant. Therefore, we conclude that the ultrasonic technique was able to detect a decrease in the structural stiffness of the patellar tendon associated with PFPS. The decrease in tendon stiffness was moderately correlated with the length of symptoms in these individuals.

  1. A case series of five individuals with asperger syndrome and sexual criminality

    Directory of Open Access Journals (Sweden)

    Shankar Kumar

    2017-01-01

    Full Text Available The prevalence of autism spectrum disorders has increased in recent years and so has the focus on high functioning autism and Asperger syndrome. A subset of Asperger individuals appears to have a propensity to engage in acts of violence, particularly sexual crimes, which may best be attributed to the core features of their pathology such as “mind-blindness” and paucity of central coherence. This paper is an account on five such cases encountered in our hospital for whom various assessments were done including Mini International Neuropsychiatric Interview, intelligence quotient assessment by Binet Kamat test of intelligence, Montreal Cognitive Assessment, Ritvo Asperger's and Autism Diagnostic Scale, and Gillberg's criteria for diagnosis. These cases gained legal attention and “undeserved” outcomes. By drawing parallels from other countries, a few suggestions have been highlighted in the paper that can be considered to discard glaring deficits in the criminal law system in India in this context.

  2. A prospective study of carpal tunnel syndrome: workplace and individual risk factors

    Science.gov (United States)

    Burt, Susan; Deddens, James A; Crombie, Ken; Jin, Yan; Wurzelbacher, Steve; Ramsey, Jessica

    2015-01-01

    Objectives To quantify the risk for carpal tunnel syndrome (CTS) from workplace physical factors, particularly hand activity level and forceful exertion, while taking into account individual factors including age, gender, body mass index (BMI), and pre-existing medical conditions. Methods Three healthcare and manufacturing workplaces were selected for inclusion on the basis of range of exposure to hand activity level and forceful exertion represented by their jobs. Each study participants job tasks were observed and evaluated ’ onsite and videotaped for further analysis, including frequency and duration of exertion and postural deviation. Individual health assessment entailed electrodiagnostic testing of median and ulnar nerves, physical examination and questionnaires at baseline with annual follow-up for 2 years. Results The incidence of dominant hand CTS during the study was 5.11 per 100 person-years (29 cases). Adjusted HRs for dominant hand CTS were as follows: working with forceful exertion ≥20% but job strain. Conclusions Workplace and individual risk factors both contribute to the risk for CTS. Time spent in forceful exertion can be a greater risk for CTS than obesity if the job exposure is high. Preventive workplace efforts should target forceful exertions. PMID:23788614

  3. Enhancing the comprehension of visual metaphors in individuals with intellectual disability with or without down syndrome.

    Science.gov (United States)

    Shnitzer-Meirovich, Shlomit; Lifshitz, Hefziba; Mashal, Nira

    2018-03-01

    This study is the first to investigate the effectiveness of deep and shallow intervention programs in the acquisition of visual metaphor comprehension in individuals with non-specific intellectual disability (NSID; aged 15-59, N = 53) or Down syndrome (DS; aged 15-52, N = 50). The deep intervention program was based on dynamic assessment model for enhancing analogical thinking. The shallow intervention program involves memorizing a metaphorical relationship between pairs of pictures. Visual metaphor comprehension was measured by the construction of a metaphorical connection between pairs of pictures. The results indicated that both etiology groups exhibited poor understanding of visual metaphors before the intervention. A significant improvement was observed in both interventions and both etiology groups, with greater improvement among individuals who underwent the deep processing. Moreover, the latter procedure led to greater generalization ability. The results also indicated that vocabulary contributed significantly to understanding unstudied metaphors and that participants with poorer linguistic abilities exhibited greater improvement in their metaphorical thinking. Thus, individuals with ID with or without DS are able to recruit the higher-order cognitive abilities required for visual metaphor comprehension. Copyright © 2018 Elsevier Ltd. All rights reserved.

  4. Word-length effect in verbal short-term memory in individuals with Down's syndrome.

    Science.gov (United States)

    Kanno, K; Ikeda, Y

    2002-11-01

    Many studies have indicated that individuals with Down's syndrome (DS) show a specific deficit in short-term memory for verbal information. The aim of the present study was to investigate the influence of the length of words on verbal short-term memory in individuals with DS. Twenty-eight children with DS and 10 control participants matched for memory span were tested on verbal serial recall and speech rate, which are thought to involve rehearsal and output speed. Although a significant word-length effect was observed in both groups for the recall of a larger number of items with a shorter spoken duration than for those with a longer spoken duration, the number of correct recalls in the group with DS was reduced compared to the control subjects. The results demonstrating poor short-term memory in children with DS were irrelevant to speech rate. In addition, the proportion of repetition-gained errors in serial recall was higher in children with DS than in control subjects. The present findings suggest that poor access to long-term lexical knowledge, rather than overt articulation speed, constrains verbal short-term memory functions in individuals with DS.

  5. Mindfulness Is Associated with the Metabolic Syndrome among Individuals with a Depressive Symptomatology.

    Science.gov (United States)

    Guyot, Erika; Baudry, Julia; Hercberg, Serge; Galan, Pilar; Kesse-Guyot, Emmanuelle; Péneau, Sandrine

    2018-02-17

    The Metabolic Syndrome (MetS) is a major public health burden. Dispositional mindfulness has recently been associated with eating disorders, being overweight, and could therefore be associated with the MetS. We aimed to examine in a cross-sectional design the relationship between mindfulness, the MetS, and its risk factors in a large sample of the adult general population and the influence of depressive symptomatology on this association. Adults participating in the NutriNet-Santé study who had completed the Five Facets Mindfulness Questionnaire and attended a clinical and biological examination were available for inclusion. Multivariable logistic regression models adjusted for socio-demographic and lifestyle factors were performed. A total of 17,490 individuals were included. Among individuals with a depressive symptomatology, those with higher mindfulness were less likely to have a MetS (OR: 0.73, 95% CI: 0.57-0.93), a high waist circumference, a low HDL-cholesterol level and an elevated fasting blood glucose level (all p mindfulness were less likely to have a high waist circumference ( p mindfulness was associated with lower odds of developing a MetS only among individuals with a depressive symptomatology.

  6. Caries experience and salivary aspects in individuals with fragile X syndrome

    Directory of Open Access Journals (Sweden)

    Cristhiane Olívia Ferreira do AMARAL

    2017-10-01

    Full Text Available Abstract Fragile X syndrome (FXS is the most common cause of hereditary mental retardation, but studies on the oral health condition of these patients are rare. The aim of this study was to determine the experience of dental caries in individuals with FXS, by examining the saliva profile, oral hygiene, socioeconomic characteristics and use of controlled drugs in these patients. Dental health was estimated using the decayed, missing and filled teeth index (DMF-T and sialometry, and the pH value and buffering capacity of the saliva, colony forming units of S. mutans (CFU/mL, visible biofilm index, and socioeconomic status were all examined. The sample, comprising 23 individuals, had an average age of 17.3 ± 5.6 years, a DMF-T index of 5.5, a diminished salivary flow (78.3%, and a low (73.9% saliva buffering capacity. Most (52.2% individuals presented with a high abundance (CFU/mL of S. mutans. The experience of caries was correlated with salivary parameters, poor oral hygiene, lower socioeconomic status and an increased count of S. mutans in saliva.

  7. Clinical investigation of predictors of radiation-induced bronchiolitis obliterans organizing pneumonia syndrome after breast-conserving therapy

    International Nuclear Information System (INIS)

    Matsuyama, Tomohiko; Furusawa, Mitsuhiro; Yasunaga, Tadamasa; Nishimura, Reiki; Ohya, Natsuo

    2011-01-01

    We investigated 710 patients with breast cancer who received radiotherapy after breast-conserving surgery at our institution to evaluate the incidence of radiation-induced bronchiolitis obliterans organizing pneumonia (BOOP) syndrome focusing on the interval from irradiation to onset and the clinical presentation. The predictive value of age (≤50 or >50), chemotherapy and hormone therapy was statistically analyzed to determine whether these are risk factors for BOOP syndrome. Radiation-induced BOOP syndrome was seen in 1.3% (9/710). In most cases, the symptoms were mild and none of the patients required hospitalization. Eight patients (88.9%) responded well to steroid administration, but 5 of these patients relapsed after or during tapering of steroids. Although we could not detect significant risk factors for BOOP syndrome, a higher patient age was associated with a higher incidence of radiation-induced BOOP syndrome after breast-conserving therapy. (author)

  8. The effect of mitotic inhibitors on DNA strand size and radiation-associated break repair in Down syndrome fibroblasts

    International Nuclear Information System (INIS)

    Woods, W.G.; Steiner, M.E.; Kalvonjian, S.L.

    1985-01-01

    The effect of mitotic inhibitors on formation and repair of DNA breaks was studied in cultured fibroblasts from patients with Down syndrome in order to investigate the hypothesis that the karyotyping procedure itself may play a role in the increased chromosome breakage seen in these cells after gamma radiation exposure. Using the nondenaturing elution and alkaline elution techniques to examine fibroblasts from Down syndrome patients and from controls, no specific abnormalities in Down syndrome cells could be detected after exposure to mitotic inhibitors, including rate and extent of elution of DNA from filters as well as repair of radiation-induced DNA breaks. In both normal and Down syndrome cell strains, however, exposure to mitotic inhibitors was associated with a decrease in cellular DNA strand size, suggesting the presence of drug-induced DNA strand breaks. The mechanism of increased chromosome sensitivity of Down syndrome cells to gamma radiation remains unknown. (orig.)

  9. Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan.

    Science.gov (United States)

    Chin Wong, Lee; Hung, Pi-Lien; Jan, Tz-Yun; Lee, Wang-Tso

    2017-07-01

    Individuals with Rett syndrome (RTT) can have variable manifestations of stereotypies. In this nation-wide cross-sectional study, we recruited all individuals with RTT in Taiwan diagnosed as RTT by neurologists based on genetic findings and diagnostic criteria. The data were collected using questionnaire. A total 43 cases of typical RTT and 15 cases of atypical RTT, aged from 2.1 to 40.1 years, were enrolled. They included 3 (5.2%) in stage II, 42 (72.4%) in stage III, and 13 (22.4%) in stage IV. All individuals presented with at least one stereotypy. Individuals with atypical RTT had more varied stereotypies (mean: 14 ± 6) compared to those with typical RTT (mean: 9 ± 5) (P = 0.003). Flapping (73.3%) and wringing (58.1%) were the most common hand stereotypies in atypical and typical RTT, respectively. Compared with typical RTT, hair pulling, bruxism, retropulsion, and protrusion of lips were more common in atypical RTT (P = 0.003, P = 0.006, P = 0.003 and clinical severities, and hand functions. Although there were no age-related changes in stereotypies in atypical RTT, flapping (P = 0.012), clapping (P = 0.044), and mouthing with single hand (P = 0.009) were significantly more prevalent in individuals aged <10 years with typical RTT, and they decreased after 10 years. In conclusion, our study showed that the stereotypical movements varied in typical and atypical RTT, implying the heterogeneous nature of the disease and the pathogenic mechanisms of RTT with atypical features. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 1204-1214. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

  10. The fate of chromosomal aberrations in 137Cs-exposed individuals in the Goiania radiation accident

    International Nuclear Information System (INIS)

    Ramalho, A.T.; Nascimento, A.C.

    1991-01-01

    Following the Goiania radiation accident, lymphocytes from 110 exposed or potentially exposed individuals were analyzed for the frequencies of chromosomal aberrations (dicentrics and centric rings) to estimate absorbed radiation dose. Dose estimates for 21 subjects exceeded 1.0 Gy, and for eight subjects they exceeded 4.0 Gy. Four of the subjects died. After the emergency period, a cytogenetic follow-up of 10 of the highest exposed patients was started. The results suggest that the average disappearance half-time of lymphocytes containing dicentric and centric rings was 130 d, which is shorter than the usually accepted value of 3 y reported in the literature

  11. Anti-inflammatory treatment and risk of depression in 91,842 patients with acute coronary syndrome and 91,860 individuals without acute coronary syndrome in Denmark

    DEFF Research Database (Denmark)

    Wium-Andersen, Ida Kim; Wium-Andersen, Marie Kim; Jørgensen, Martin Balslev

    2017-01-01

    Background We examined if treatment with acetylsalicylic acid (ASA), non-steroid anti-inflammatory drugs (NSAID), or statins after acute coronary syndrome (ACS) are associated with decreased risk of depression. Method This register-based cohort study included all individuals with a first...

  12. Medical Managment of the Acute Radiation Syndrome: Recommendations of the Strategic National Stockpile Radiation Working Group

    National Research Council Canada - National Science Library

    Waselenka, Jamie K; MacVittie, Thomas J; Blakely, William F; Pesik, Nicki; Wiley, Albert L; Dickerson, William E; Tsu, Horace; Confer, Dennis L; Coleman, Norman; Seed, Thomas

    2004-01-01

    .... This consensus document was developed by the Strategic National Stockpile Radiation Working Group to provide a framework for physicians in internal medicine and the medical subspecialties to evaluate...

  13. Normal formation and repair of γ-radiation-induced single and double strand DNA breaks in Down syndrome fibroblasts

    International Nuclear Information System (INIS)

    Steiner, M.E.; Woods, W.G.

    1982-01-01

    Fibroblasts from patients with Down syndrome (Trisomy 21) were examined for repair capability of γ-radiation-induced single strand and double strand DNA breaks. Formation and repair of DNA breaks were determined by DNA alkaline and non-denaturing elution techniques. Down syndrome fibroblasts were found to repair single strand and double strand breaks as well as fibroblasts from normal controls. (orig.)

  14. Bile loss in the acute intestinal radiation syndrome in rats

    International Nuclear Information System (INIS)

    Geraci, J.P.; Dunston, S.G.; Jackson, K.L.; Mariano, M.S.; Holeski, C.; Eaton, D.L.

    1987-01-01

    The effects of bile duct ligation (BDL), choledochostomy, bile acid sequestering within the intestinal lumen by cholestyramine, and fluid and electrolyte replacement on survival time and development of diarrhea after whole-body exposure to doses of ionizing radiation that result in death from acute intestinal injury were studied. BDL significantly prolonged survival and delayed the onset of diarrhea after exposure to 137 Cs gamma rays, fission neutrons, or cyclotron-produced neutrons in the range of doses that produce intestinal death or death from a combination of intestinal and hematopoietic injuries. Cannulation of the bile duct with exteriorized bile flow (choledochostomy) to protect the irradiated intestine from the mucolytic action of bile salts did not duplicate the effect of BDL in increasing survival time. Choledochostomy without fluid replacement eliminated the occurrence of diarrhea in 15.4 Gy irradiated rats. Diarrhea did occur in irradiated animals with choledochostomy if they received duodenal injections of fluid and electrolytes to replace the fluid lost as a result of bile drainage. Duodenal injection of fluid and electrolytes had no significant effect on survival time in irradiated rats. Injection of fluid and electrolytes into the peritoneal cavity of irradiated rats resulted in an increase in survival time that was comparable to that observed after BDL. Addition of antibiotics to the peritoneally injected fluid and electrolytes further increased survival time (up to 9 days). This survival time approached that seen in animals receiving the same radiation dose but which had the intestine exteriorized and shielded to minimize radiation injury to the intestine. Postmortem histological examinations of the irradiated small intestine showed mucosal regeneration in these long-term survivors receiving fluid and antibiotic therapy

  15. The hematopoietic system of the acute radiation syndrome reconvalescents in post-accidental period

    International Nuclear Information System (INIS)

    Klimenko, V.; Dyagil, I.; Yukhimuk, L.; Bilko, N.; Bebeshko, V.; Klimenko, S.; Oberenko, O.

    1996-01-01

    The state of hemopoietic system has been studied since 1986 up to now in 145 patients who had acute radiation sickness after the Chernobyl accident. We studied clinical, morpho functional, histological, ultrastructural, biophysical, cultural, cytochemical indexes of the hematopoietic elements. The connection between hemopoietic microenvironment and hemopoiesis state was put up. The realization of the hematological disorders as myelodysplastic syndrome testified the most important problem in future

  16. Acute effects of cycling exercise on post-exercise blood pressure in individuals with down syndrome

    Directory of Open Access Journals (Sweden)

    Bezerra Maria Edilma Da Silva

    2017-12-01

    Full Text Available Purpose. Studies have shown that even a single session of physical exercise lowers blood pressure after its completion. This phenomenon is called post-exercise hypotension (PEH and has been considered as a non-pharmacological treatment to control blood pressure. However, there are no studies regarding the occurrence of PEH after acute exercise in individuals with Down syndrome (DS. This study aimed to analyse the occurrence of PEH in these subjects and the possible role of exercise intensity. Methods. Ten individuals with DS, of both genders, participated in the study (age, 29 ± 7 years; body mass, 60.7 ± 9 kg; height, 1.48 ± 0.11 m; BMI, 27.6 ± 2.4 kg/m2. The volunteers randomly underwent 2 sessions of exercise on a stationary bike for 20 minutes and 1 control session. Heart rate, systolic blood pressure (SBP and diastolic blood pressure (DBP were measured after 15 minutes of resting, in the 20th minute of each exercise session or control, and in the 15th, 30th, and 45th minute of postexercise recovery. Results. Both moderate and intense exercise performed acutely increased SBP (p < 0.001, p < 0.01, respectively, with no effect on DBP in individuals with DS. Neither the moderate nor the intense exercise was enough to elicit PEH. Conclusions. The results indicated that individuals with DS may not present PEH for the intensities, duration, and exercise mode as applied in the present investigation. While additional studies with different exercise strategies are needed, our findings contribute to the body of literature regarding the PEH responses in adults with DS.

  17. Blood Pressure and Hemodynamic Adaptations after a Training Program in Young Individuals with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Bruna Barboza Seron

    2015-06-01

    Full Text Available Background: Cardiovascular diseases affect people worldwide. Individuals with Down Syndrome (DS have an up to sixteen-time greater risk of mortality from cardiovascular diseases. Objective: To evaluate the effects of aerobic and resistance exercises on blood pressure and hemodynamic variables of young individuals with DS. Methods: A total of 29 young individuals with DS participated in the study. They were divided into two groups: aerobic training (AT (n = 14, and resistance training (TR (n = 15. Their mean age was 15.7 ± 2.82 years. The training program lasted 12 weeks, and had a frequency of three times a week for AT and twice a week for RT. AT was performed in treadmill/ bicycle ergometer, at an intensity between 50%-70% of the HR reserve. RT comprised nine exercises with three sets of 12 repetition-maximum. Systolic blood pressure (SBP, diastolic blood pressure (DBP, mean blood pressure (MBP and hemodynamic variables were assessed beat-to-beat using the Finometer device before/after the training program. Descriptive analysis, the Shapiro-Wilk test to check the normality of data, and the two-way ANOVA for repeated measures were used to compare pre- and post-training variables. The Pearson’s correlation coefficient was calculated to correlate hemodynamic variables. The SPSS version 18.0 was used with the significance level set at p < 0.05. Results: After twelve weeks of aerobic and/or resistance training, significant reductions in variables SBP, DBP and MBP were observed. Conclusion: This study suggests a chronic hypotensive effect of moderate aerobic and resistance exercises on young individuals with DS.

  18. The acute radiation syndrome in the miniature pig Troll

    International Nuclear Information System (INIS)

    Siegl, R.

    1986-01-01

    8 animals at an average age of 230 days and an average body weight of 24.9 kg were whole-body gamma-irradiated from a cobalt-60 source with 3.0 Gy midline dose. 4 of the 8 pigs survived, the others died within day 14 and 17 after irradiation, mainly due to thrombopenia dependent hemorrhage. Hematologic examinations showed as well that the platelets decreased to a minimum on day 14 p.r. The granulocyte values and yet remarkable the lymphocyte values decreased at an earlier time. The absolute lymphocyte counts reached their lowest mark already on the first day after irradiation. The reticulocytes, which also decreased markedly on day 1 p.r., sank further on the following days, till after two weeks when they started to increase again. Furthermore 25 biochemical serum parameters have been investigated. The major pathological findings of the acute radiation sickness were the mostly heavy hemorrhages. Histological studies indicated primarily aplasia of bone marrow, intestinal mucosa damages and atrophy of lymphatic tissues. Signs for septicemia were rarely found. The investigations in Troll-pigs showed, their reactions to an irradiation of middle-lethal doses are similar to those of other pigs. Only the Vietnamese pot-bellied swine reacts differently: Profuse diarrheas already after low radiation-doses are reported. (orig./MG) [de

  19. Ecological impacts of umbrella effects of radiation on the individual members

    International Nuclear Information System (INIS)

    Doi, Masahiro; Kawaguchi, Isao

    2007-01-01

    In order to study the interactions in a model aquatic microcosm, an individual-based computer simulation model was developed. The microcosm consists of Euglena gracilis as an autotroph algae, Tetrahymena thermophila as a heterotroph protozoa and Escherichia coli as a saprotroph bacteria. There exists a strong interaction between Tetrahymena and E. coli as the first is the predator of the second. Ecological toxicity tests were conducted to test the population level impacts of the biological effects of radiation and toxicants on the lethality and mobility factors that influence directly or indirectly growth and reproduction. Radiological effects on lethality of E. coli individuals were translated to the reduction of the equilibrium population of Tetrahymena. A synergistic effect at the community level was also observed by the simulation of a combined exposure of radiation and a toxicant which reduced the feeding efficiency of Tetrahymena

  20. Obesity, Food Selectivity, and Physical Activity in Individuals with Fragile X Syndrome

    Science.gov (United States)

    Raspa, Melissa; Bailey, Donald B., Jr.; Bishop, Ellen; Holiday, David; Olmsted, Murrey

    2010-01-01

    National survey data from 884 families were used to examine the overall health of children and adults with fragile X syndrome. Results indicate the rate of obesity in adults with fragile X syndrome is similar to the general population (30%). Male children with fragile X syndrome, however, had higher rates of obesity (31%) when compared with…

  1. Extrapolating ecological risks of ionizing radiation from individuals to populations to ecosystems

    International Nuclear Information System (INIS)

    Barnthouse, L.W.

    1997-01-01

    Approaches for protecting ecosystems from ionizing radiation are quite different from those used for protecting ecosystems from adverse effects of toxic chemicals. The methods used for chemicals are conceptually similar to those used to assess risks of chemicals to human health in that they focus on the protection of the most sensitive or most highly exposed individuals. The assumption is that if sensitive or maximally exposed species and life stages are protected, then ecosystems will be protected. Radiological protection standards, on the other hand, are explicitly premised on the assumption that organisms, populations and ecosystems all possess compensatory capabilities to allow them to survive in the face of unpredictable natural variation in their environments. These capabilities are assumed to persist in the face of at least some exposure to ionizing radiation. The prevailing approach to radiological protection was developed more than 30 years ago, at a time when the terms risk assessment and risk management were rarely used. The expert review approach used to derive radiological protection standards is widely perceived to be inconsistent with the open, participatory approach that prevails today for the regulation of toxic chemicals. The available data for environmental radionuclides vastly exceeds that available for any chemical. Therefore, given an understanding of dose-response relationships for radiation effects and exposures for individual organisms, it should be possible to develop methods for quantifying effects of radiation on populations. A tiered assessment scheme as well as available population models that could be used for the ecological risk assessment of radionuclides is presented. (author)

  2. Associations between frailty syndrome and sociodemographic characteristics in long-lived individuals of a community.

    Science.gov (United States)

    Grden, Clóris Regina Blanski; Lenardt, Maria Helena; Sousa, Jacy Aurelia Vieira de; Kusomota, Luciana; Dellaroza, Mara Solange Gomes; Betiolli, Susanne Elero

    2017-06-05

    investigating the association between frailty syndrome and sociodemographic characteristics in long-lived individuals of a community. a cross-sectional study with a proportional stratified sample consisting of 243 long-lived individuals. A structured instrument, scales and tests that comprise evaluating frailty were applied for data collection. Univariate and multivariate analyzes were performed by logistic regression (pConfianza de 95%). de los 243 longevos evaluados, 36 (14,8%) eran frágiles, 155 (63,8%) pre-frágiles y 52 (21,4%) no frágiles. Hubo predominio del sexo femenino (n=161; 66,3%), viudos (n=158; 65%), residían con familiares (n=144; 59,3%) y con situación financiera autorrelatada satisfactoria (n=108; 44,5%). Se identificó asociación significativa entre la variable demográfica edad (p=0,043) y el síndrome de la fragilidad física. El mejor modelo predictor del síndrome contuvo las variables: sexo, edad y con quien reside. la variable edad fue la que más contribuyó para el proceso de fragilización de los longevos que residen en la comunidad. Es esencial que el cuidado de enfermería gerontológico contemple el rastreo precoz del síndrome y considere la edad como un indicativo de necesidades de cuidados.

  3. Does family history of metabolic syndrome affect the metabolic profile phenotype in young healthy individuals?

    Science.gov (United States)

    Lipińska, Anna; Koczaj-Bremer, Magdalena; Jankowski, Krzysztof; Kaźmierczak, Agnieszka; Ciurzyński, Michał; Ou-Pokrzewińska, Aisha; Mikocka, Ewelina; Lewandowski, Zbigniew; Demkow, Urszula; Pruszczyk, Piotr

    2014-01-01

    Early identification of high-risk individuals is key for the prevention of cardiovascular disease (CVD). The aim of this study was to assess the potential impact of a family history of metabolic syndrome (fhMetS) on the risk of metabolic disorders (abnormal body mass, lipid profile, glucose metabolism, insulin resistance, and blood pressure) in healthy young individuals. We studied CVD risk factors in 90 healthy volunteers, aged 27-39 years; of these, 78 had fhMetS and 12 were without fhMetS (control group). Fasting serum lipids, glucose, and insulin levels were assayed, and anthropometric parameters and blood pressure using, an ambulatory blood pressure monitoring system, were measured. Nutritional and physical activity habits were assessed. Despite similar nutritional and physical activity habits, abnormal body mass was found in 53.2% of the fhMetS participants and 46.1% of the control participants (p = 0.54). The occurrence of obesity was 19.4% and 0%, respectively (p = 0.69). Compared to the control participants, fhMetS was associated with significantly higher total cholesterol (5.46 mmol/L vs. 4.69 mmol/L, p family history of MetS.

  4. Obstructive sleep apnea syndrome among obese individuals: A cross-sectional study

    Directory of Open Access Journals (Sweden)

    Débora Aparecida Oliveira Modena

    Full Text Available Summary Introduction: The obstructive sleep apnea syndrome (OSAS is a respiratory illness, characterized by recurrent episodes of apnea and hypopnea, leading to reduction or cessation of the airflow. Obesity is one of the major risk factors for the development of OSAS. To help in the diagnosis of this disease, easily applicable and low-cost questionnaries were developed, such as the Berlin Questionnaire (BQ. Objective: To evaluate the efficacy of the BQ for the screening of OSAS among candidates to bariatric surgery in a multidisciplinary preoperative program. Method: This is an observational, descriptive and cross-sectional study which evaluated obese individuals that were being prepared for bariatric surgery by means of the BQ. Results: BQ was able to detect that minimal variations in the body mass index, neck circumference and hip-to-waist ratio lead to changes in the risk to develop OSAS; the higher the values of these variables, the higher the risk for OSAS development. Conclusion: BQ was an efficient and reliable tool to demonstrate the high risk for OSAS development in individual with obesity.

  5. [Prevalence of metabolic syndrome in Mapuche individuals living in urban and rural environment in Chile].

    Science.gov (United States)

    Ibáñez, Luis; Sanzana, Ruth; Salas, Carlos; Navarrete, Claudia; Cartes-Velásquez, Ricardo; Rainqueo, Angélica; Jara, Tamara; Pérez-Bravo, Francisco; Ulloa, Natalia; Calvo, Carlos; Miquel, Juan F; Celis-Morales, Carlos

    2014-08-01

    Metabolic Syndrome (MS) increases the risk of diabetes and mortality associated with cardiovascular disease. However, the prevalence of MS could differ by ethnicity and lifestyle factors. To determine the prevalence of MS in Mapuche individuals living in urban and rural environments in Chile and to investigate whether the prevalence and risk of MS in urban and rural environments differs by sex, age and nutritional status. A total of 1077 Mapuche participants were recruited from urban (MU = 288) and rural (MR = 789) settings. Body mass index, waist circumference and blood pressure were measured. A fasting blood sample was obtained to measure serum glucose, HDL cholesterol and triacylglycerol. The prevalence of MS was determined using the unified IDF and ATP-III criteria. An environment and sex interaction was found for the prevalence of MS (p = 0.042). The prevalence was significantly lower in male MR (13%) compared to other groups (22, 23 and 25% among female MR, female MU and male MU respectively). Also, the prevalence of central obesity and low HDL-cholesterol were significantly lower in male MR. MU are at an increased risk of developing MS compared to MR, with an odds ratio of 1.59 (95% confidence intervals 1.1 to 2.2). This risk increases along with age or body mass index of the population. The adoption of an urbanized lifestyle increases the risk of developing MS in Mapuche individuals. This risk is enhanced by age and nutritional status.

  6. Estimating Photosynthetic Radiation Use Efficiency Using Incident Light and Photosynthesis of Individual Leaves

    OpenAIRE

    ROSATI, A.; DEJONG, T. M.

    2003-01-01

    It has been theorized that photosynthetic radiation use efficiency (PhRUE) over the course of a day is constant for leaves throughout a canopy if leaf nitrogen content and photosynthetic properties are adapted to local light so that canopy photosynthesis over a day is optimized. To test this hypothesis, ‘daily’ photosynthesis of individual leaves of Solanum melongena plants was calculated from instantaneous rates of photosynthesis integrated over the daylight hours. Instantaneous photosynthes...

  7. Influence of various factors on individual radiation exposure from the chernobyl disaster

    Directory of Open Access Journals (Sweden)

    Bondar Alexandra

    2002-10-01

    Full Text Available Abstract Background The explosion at the Chernobyl Nuclear Power Plant was one of the greatest known nuclear disasters of the 20th century. To reduce individual exposure to ionizing radiation the Soviet Union government introduced a number of counter-measures. This article presents a description of how historical events conspired to disrupt these efforts and affect residents in exposed areas. Methods This study employed an extensive review of data on radionuclide deposition, contamination patterns and lifestyle characteristics. Data were obtained from the Ukraine Ministry of Health and the Ukraine Research Center for Radiation Medicine. Results Data are presented on annual contamination rates in selected locales as well as data on local food consumption patterns. Historical factors including economic and political circumstances are also highlighted. Results show the diminution of individual doses between 1987 and 1991 and then an increase between 1991 and 1994 and the relationship between this increase and changes in the lifestyle of the local population. Conclusion A number of factors played direct and indirect roles in contributing to the populace's cumulative radiation exposure. Future post-contamination studies need to consider these factors when estimating individual exposures.

  8. Influence of various factors on individual radiation exposure from the Chernobyl disaster.

    Science.gov (United States)

    Zamostian, Pavlo; Moysich, Kirsten B; Mahoney, Martin C; McCarthy, Philip; Bondar, Alexandra; Noschenko, Andrey G; Michalek, Arthur M

    2002-10-29

    The explosion at the Chernobyl Nuclear Power Plant was one of the greatest known nuclear disasters of the 20th century. To reduce individual exposure to ionizing radiation the Soviet Union government introduced a number of counter-measures. This article presents a description of how historical events conspired to disrupt these efforts and affect residents in exposed areas. This study employed an extensive review of data on radionuclide deposition, contamination patterns and lifestyle characteristics. Data were obtained from the Ukraine Ministry of Health and the Ukraine Research Center for Radiation Medicine. Data are presented on annual contamination rates in selected locales as well as data on local food consumption patterns. Historical factors including economic and political circumstances are also highlighted. Results show the diminution of individual doses between 1987 and 1991 and then an increase between 1991 and 1994 and the relationship between this increase and changes in the lifestyle of the local population. A number of factors played direct and indirect roles in contributing to the populace's cumulative radiation exposure. Future post-contamination studies need to consider these factors when estimating individual exposures.

  9. Sequelae of radiation facial epilation (North American Hiroshima maiden syndrome)

    International Nuclear Information System (INIS)

    Rosen, I.B.; Walfish, P.G.

    1989-01-01

    Radiation for benign problems of the head and neck area has been uniformly recognized as unacceptable practice. This includes epilation for facial hirsutism. Twelve such patients, recently encountered, have characteristic radiodermatitis facies and have demonstrated multisite neoplastic involvement--including skin, thyroid, parathyroid, salivary gland, oral cavity, facial skeleton, and breast--and have also undergone extensive dermatologic treatment of complications of radiodermatitis. There was one cancer death, and three patients are alive with cancer. Such patients have a superficial resemblance to the Hiroshima maiden group of young women who survived atomic bombing and experienced severe facial burns, necessitating extensive plastic surgery. As atomic survivors they are at increased risk for cancer of thyroid, salivary gland, lung, breast, bone marrow, and gastrointestinal tract. The North American Hiroshima maiden should warrant easy clinical recognition and require lifetime scrutiny for multisite neoplastic disease

  10. Mesenchymal stem cell therapy for cutaneous radiation syndrome.

    Science.gov (United States)

    Akita, Sadanori; Akino, Kozo; Hirano, Akiyoshi; Ohtsuru, Akira; Yamashita, Shunichi

    2010-06-01

    Systemic and local radiation injuries caused by nuclear power reactor accidents, therapeutic irradiation, or nuclear terrorism should be prevented or properly treated in order to improve wound management and save lives. Currently, regenerative surgical modalities should be attempted with temporal artificial dermis impregnated and sprayed with a local angiogenic factor such as basic fibroblast growth factor, and secondary reconstruction can be a candidate for demarcation and saving the donor morbidity. Human mesenchymal stem cells and adipose-derived stem cells, together with angiogenic and mitogenic factor of basic fibroblast growth factor and an artificial dermis, were applied over the excised irradiated skin defect and were tested for differentiation and local stimulation effects in the radiation-exposed wounds. The perforator flap and artificial dermal template with growth factor were successful for reconstruction in patients who were suffering from complex underlying disease. Patients were uneventfully treated with minimal morbidities. In the experiments, the hMSCs are strongly proliferative even after 20 Gy irradiation in vitro. In vivo, 4 Gy rat whole body irradiation demonstrated that sustained marrow stromal (mesenchymal stem) cells survived in the bone marrow. Immediate artificial dermis application impregnated with cells and the cytokine over the 20 Gy irradiated skin and soft tissues demonstrated the significantly improved fat angiogenesis, architected dermal reconstitution, and less inflammatory epidermal recovery. Detailed understanding of underlying diseases and rational reconstructive procedures brings about good outcomes for difficult irradiated wound healing. Adipose-derived stem cells are also implicated in the limited local injuries for short cell harvesting and processing time in the same subject.

  11. Radiation therapy for Kasabach-Merritt syndrome. Analysis of unfavorable factors in 5 children

    International Nuclear Information System (INIS)

    Kawamori, Jiro; Saito, Tsutomu; Tanaka, Yoshiaki; Sato, Katsuhiko.

    1996-01-01

    During the past 10 years, five infants with Kasabach-Merritt syndrome (K-M) receiving radiation therapy were reported. We investigated whether radiation therapy for K-M was useful and what the unfavorable factors of K-M were. During the past 10 years, we have treated five infants with K-M. The syndrome occurred at ages ranging from birth to 4 months. The incidence of female to male ratio was 3:2. Among 5 cases, the site of hemangioma was as follows; shoulder, anterior chest wall, lower abdominal wall, face and neck and inguinal site. All 5 cases received medication to control the coagulopathy including prednisone and blood transfusion at first. Because the platelet count and the bleeding tendency did not improve in any case, these cases received radiation therapy. Total dose ranged from 5 to 10 Gy and fraction-size ranged from 0.5 to 1.75 Gy. Irradiation session was 2 or 3 times per week. In 5 cases, 4 cases showed cure of bleeding tendency and disappearance of tumor, and survived. In these 4 cases, normalization of platelet count was obtained at the early phase of dose ranging from 3 to 5 Gy by radiation therapy. In the remaining case, bleeding tendency was improved at the late phase by initial radiation therapy, however, after that immediately relapsed. In this case, the salvage radiation therapy was not effective and she died from airway obstruction. This case was of neonatal age and had bulky neck tumor. We recognized that radiation therapy was effective for K-M. A serious case was of neonatal age and had bulky neck tumor. It was estimated that the unfavorable factors of K-M were neonatal case and bulky neck tumor case. (author)

  12. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

    Science.gov (United States)

    Reijnders, Margot R F; Janowski, Robert; Alvi, Mohsan; Self, Jay E; van Essen, Ton J; Vreeburg, Maaike; Rouhl, Rob P W; Stevens, Servi J C; Stegmann, Alexander P A; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T R M; Bok, Levinus A; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E; Douzgou, Sofia; Cooper, Nicola S; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H M; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S; Dowling, James J; Lev, Dorit L; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F; Brunner, Han G; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E; Siu, Victoria Mok; DDD study, The; Selber, Paulo; Leventer, Richard J; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana

    2018-01-01

    Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. Methods Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures of Drosophila-derived Pur-alpha homologues. Finally, we explored genotype-phenotype correlations by analysis of both recurrent mutations as well as mutation classes. Results We report mutations in PURA (purine-rich element binding protein A) in 32 individuals, the largest cohort described so far. Evaluation of clinical data, including 22 previously published cases, revealed that all have moderate to severe ID and neonatal-onset symptoms, including hypotonia (96%), respiratory problems (57%), feeding difficulties (77%), exaggerated startle response (44%), hypersomnolence (66%) and hypothermia (35%). Epilepsy (54%) and gastrointestinal (69%), ophthalmological (51%) and endocrine problems (42%) were observed frequently. Computational analysis of facial photographs showed subtle facial dysmorphism. No strong genotype-phenotype correlation was identified by subgrouping mutations into functional classes. Conclusion We delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual through targeted Sanger sequencing points towards the clinical recognisability of the syndrome. Genotype-phenotype analysis showed no significant correlation between mutation classes and

  13. Hypersexuality, Paraphilic Behaviors, and Gender Dysphoria in Individuals with Klinefelter's Syndrome.

    Science.gov (United States)

    Fisher, Alessandra D; Castellini, Giovanni; Casale, Helen; Fanni, Egidia; Bandini, Elisa; Campone, Beatrice; Ferruccio, Naika; Maseroli, Elisa; Boddi, Valentina; Dèttore, Davide; Pizzocaro, Alessandro; Balercia, Giancarlo; Oppo, Alessandro; Ricca, Valdo; Maggi, Mario

    2015-12-01

    An increased risk of autistic traits in Klinefelter syndrome (KS) has been reported. In addition, some studies have shown an increased incidence of gender dysphoria (GD) and paraphilia in autism spectrum disorder. The aim of this study was to evaluate the presence of (i) paraphilic fantasies and behaviors; and (ii) GD symptomatology in KS. A sample of 46 KS individuals and 43 healthy male controls (HC) were evaluated. Subjects were studied by means of several psychometric tests, such as Autism Spectrum Quotient (AQ) and Reading the Mind in the Eyes Revised (RME) to measure autistic traits, Gender Identity/GD questionnaire (GIDYQ-AA), and Sexual Addiction Screening Test (SAST). In addition, body uneasiness psychopathological symptoms were assessed using Symptom Checklist 90 Revised (SCL-90-R). The presence and frequency of any paraphilic fantasy and behavior was assessed by means of a clinical interview based on Diagnostic and Statistical Manual of Mental Disorders, 5th Edition criteria. Finally, all individuals included were assessed by Wechsler Adult Intelligence Scale-Revised to evaluate intelligence quotient (IQ). Data from a subsample of a previous published series of male to female GD individuals, with the battery of psychological measures useful to provide a psychopathological explanation of GD in KS population available, was also considered. When compared with HC, KS reported significantly lower total, verbal and performance IQ scores and higher SCL-90 obsession-compulsive symptoms (all P gender dysphoric symptoms than HC (P = 0.004), which were mediated by the presence of autistic traits (Sobel's test; P < 0.05). KS is associated with hypersexuality, paraphilic behaviors, and GD, which were mediated by obsessive-compulsive and autistic traits. © 2015 International Society for Sexual Medicine.

  14. Down's syndrome and related abnormalities in an area of high background radiation in coastal Kerala

    International Nuclear Information System (INIS)

    Kochupillai, N.; Verma, I.C.; Grewal, M.S.; Ramalingaswami, V.

    1976-01-01

    It is stated that in a coastal area of Kerala, Southern India, the background radiation is between 1500 and 3000 mR/yr, this being due to the presence of Th-containing monazite mineral in the soil. During an epidemiological study of modular lesions of the thyroid in this area an apparently high prevalence of Down's syndrome and other forms of severe mental retardation was observed. A house-to-house survey of relevant abnormalities in this area was made, and also in a comparable control area without high background radiation. The frequency of chromosome aberrations in a sample of the population in the study and control areas was also investigated. The observations support the view that radiation induces genetic anomalies occur with above average frequency in the population living in the area with high background radiation. Only gross abnormalities evident in clinical examination were recorded. The study and control populations were similar in age and sex structure and general sociologic conditions. Severe mental retardation was the commonest abnormality encountered, and 85% of the abnormalities detected in the study population were genetic in origin, compared with 56% in the control population. Prevalence of Down's syndrome was 0.93 per 1000 in the study population. (U.K.)

  15. Do Faces Capture the Attention of Individuals with Williams Syndrome or Autism? Evidence from Tracking Eye Movements

    Science.gov (United States)

    Riby, Deborah M.; Hancock, Peter J. B.

    2009-01-01

    The neuro-developmental disorders of Williams syndrome (WS) and autism can reveal key components of social cognition. Eye-tracking techniques were applied in two tasks exploring attention to pictures containing faces. Images were (i) scrambled pictures containing faces or (ii) pictures of scenes with embedded faces. Compared to individuals who…

  16. Increased prevalences of left-handedness and left-eye sighting dominance in individuals with Williams-Beuren syndrome

    NARCIS (Netherlands)

    J.W. van Strien (Jan)

    2005-01-01

    textabstractHandedness and eye sighting dominance were assessed in a sample of 50 individuals (25 male, 25 female; aged 5 – 38 years) with Williams-Beuren syndrome (WBS). The prevalences of left-handedness and left-eyedness were compared to the normative prevalences in the general population. We

  17. Navigating the Social World: A Curriculum for Individuals with Asperger's Syndrome, High Functioning Autism and Related Disorders.

    Science.gov (United States)

    McAfee, Jeanette L.

    This volume presents a curriculum developed specifically to develop the social, emotional, and organizational skills of individuals with Asperger's Syndrome or high functioning autism. The book offers ideas and techniques drawn from various disciplines including cognitive behavioral therapy, applied behavioral therapy, education, and occupational…

  18. Siblings of Individuals with Smith-Magenis Syndrome: An Investigation of the Correlates of Positive and Negative Behavioural Traits

    Science.gov (United States)

    Moshier, M. S.; York, T. P.; Silberg, J. L.; Elsea, S. H.

    2012-01-01

    Background: Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder that affects approximately one out of 25 000 births worldwide. To date, no research has been conducted to investigate how having an individual with SMS in a family is a positive or negative influence on siblings. Methods: To investigate this question we conducted a study…

  19. Radiation-induced liver injury showing low intensity on T2-weighted images noted in Budd-Chiari syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Mori, Harushi [Tokyo Univ. (Japan). Graduate School of Medicine; Yoshioka, Hiroshi; Saida, Yukihisa; Itai, Yuji [Tsukuba Univ., Ibaraki (Japan). Inst. of Clinical Medicine; Mori, Kensaku [Tsukuba Univ., Ibaraki (Japan). Hospital; Ahmadi, T. [Shahid Beheshti Univ. of Medical Sciences, Teheran (Iran, Islamic Republic of); Okumura, Toshiyuki [Ibaraki Prefectural Central Hospital, Tomobe (Japan)

    2002-04-01

    Although it is documented that radiation can cause density or intensity changes on computed tomography or MR imaging in the irradiated hepatic parenchyma, few researchers have reported or understood the MR presentation of changes in hepatic parenchyma following radiotherapy in the patient with Budd-Chiari syndrome. The purpose of this study was to investigate the MR appearance of hepatic radiation injury in Budd-Chiari syndrome and to consider the underlying pathophysiology. The MR examinations of two patients with Budd-Chiari syndrome was compared with those of 11 patients without Budd-Chiari syndrome. The two groups, both of which suffered from hepatocellular carcinoma, underwent 50-72 Gy of proton-beam irradiation during a period of 14-43 days. Examinations including T1- and T2-weighted imaging, superparamagnetic iron oxide-enhanced imaging, and dynamic study were performed 3-10 weeks after the end of irradiation. Radiation-induced hepatic injury was observed as a low-intensity area on T2-weighted images and on delayed phase images of dynamic study in the Budd-Chiari patients, and as iso- or high-intensity areas on both images in the patients without Budd-Chiari syndrome. US-guided needle biopsy from the irradiated area in one patient with Budd-Chiari syndrome revealed mostly necrotic tissue and fibrous tissue. These MR features of hepatic radiation injury in Budd-Chiari syndrome were considered to be due to severe hepatic fibrosis. (author)

  20. Treatment of radiation syndrome with emphasis on stem cell implantation

    International Nuclear Information System (INIS)

    Ashry, O.M.

    2010-01-01

    Within few years, the possibility that the human body contains cells that can repair and regenerate damaged and diseased tissue has gone from an unlikely proposition to a virtual certainty. Patients who have received doses of radiation in the potentially low to mid-lethal range (2-6 Gy) will have depression in bone-marrow function with cessation of blood-cell production leading to pancytopenia. Selection of cases for stem cell transplantation is based upon clinical signs and symptoms. Hematopoietic stem cell which produces blood cell progeny provides support for hematopoietic and other cells within the marrow, and has also been a focus for possible tissue repair. Another cell type termed mesenchymal or stromal also exists in the marrow. This cell provides support for hematopoietic and other cells within the marrow, and has also been a focus for possible tissue repair. Stem cells are obtained from bone marrow, peripheral blood, placental and umbilical cord blood, embryonic stem cells and embryonic germ cells. These cells have great potential for clinical research due to their potential to regenerate tissue. As well known, the cryo preservation process can store any cell type, particularly blood cells, for an indeterminate time. (author)

  1. Radiation sensitivity of fibroblast strains from patients with Usher's syndrome, Duchenne muscular dystrophy, and Huntington's disease

    International Nuclear Information System (INIS)

    Nove, J.; Little, J.B.; Tarone, R.E.; Robbins, J.H.

    1987-01-01

    The colony-forming ability of 10 normal human fibroblast cell strains and of 10 strains representing 3 degenerative diseases of either nerve or muscle cells was determined after exposure of the cells to X-rays or β-particles from tritiated water. Both methods of irradiation yielded similar comparative results. The fibroblast strains from the 5 Usher's syndrome patients and from 1 of the 2 Huntington's disease patients were hypersensitive to radiation, while those from the 3 Duchenne muscular dystrophy patients and the second Huntington's disease patient had normal sensitivity to radiation. These results indicate both disease-specific and strain-specific differences in the survival of fibroblasts after exposure to ionizing radiation. 38 refs.; 2 figs.; 3 tabs

  2. Study of biological effects of varying mixtures of Cf-252 and gamma radiation on the acute radiation syndromes: Relevance to clinical radiotherapy of radioresistant cancer

    International Nuclear Information System (INIS)

    Maruyama, Y.; Wierzbicki, J.; Feola, J.M.

    1993-01-01

    Data for the 30 day bone marrow syndrome (BM-50) and the 6-10 day gastrointestinal (GI-50) syndrome for a one and two fraction schedule and acute and low dose rate irradiation using pure and mixed Cf-252 and photon radiation are presented. The radiation of Cf-252 is a mixture of neutrons and gamma rays. Balb/c mice of both sexes were total body irradiated with acute Co-60, low dose rate Cs-137 and Cf-252 using a 1 x and 2 x schedule. For low linear energy transfer radiations of Co-60 or Cs-137 there was expected to be an increase in the dose to produce the gastrointestinal and bone marrow syndromes with minimal change for Cf-252 neutrons. The proportion of photons in the Cf-252 radiation field were further altered by mixing Cs-137 with the Cf-252 sources and mice were total body irradiated with different proportions of photons to determine the effect on the radiation syndromes. The effects of mixing Cf-252 neutrons with different proportions of photons on the syndromes was determined. There was increase in BM-50 and GI-50 doses with fractionated or low dose rate photon irradiations and the dose modifying factors were 1.3-1.4 for the GI syndrome and 1.2 for the bone marrow syndrome. For Cf-252 there was minimal fractionation effect for the GI-50 syndrome, which increased by 1.1 for x 1 vs. x 2 fractions; for the BM-50 syndrome it rose by a 1.1 factor. For LDR Cs-137 the dose for the GI-50 syndrome rose 2.2-fold. For mixed neutron-photon radiation of 0%, 15%, 35%, and 65% η/γ mixtures, the dose to produce the BM-50 and GI-50 endpoints dropped sharply from 0 to 35% neutrons and remained flat thereafter. For major tissues such as the bone marrow and GI tract, Cf-252 behaved as high linear energy transfer for mixtures of neutrons and gamma rays when the radiations were delivered simultaneously at the low dose rates studied. 35 refs., 3 figs., 2 tabs

  3. Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome.

    Science.gov (United States)

    Alaimo, Joseph T; Barton, Laura V; Mullegama, Sureni V; Wills, Rachel D; Foster, Rebecca H; Elsea, Sarah H

    2015-12-01

    Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder associated with intellectual disability, sleep disturbances, early onset obesity and vast behavioral deficits. We used the Behavior Problems Inventory-01 to categorize the frequency and severity of behavioral abnormalities in a SMS cohort relative to individuals with intellectual disability of heterogeneous etiology. Self-injurious, stereotyped, and aggressive/destructive behavioral scores indicated that both frequency and severity were significantly higher among individuals with SMS relative to those with intellectual disability. Next, we categorized food behaviors in our SMS cohort across age using the Food Related Problems Questionnaire (FRPQ) and found that problems began to occur in SMS children as early as 5-11 years old, but children 12-18 years old and adults manifested the most severe problems. Furthermore, we evaluated the similarities of SMS adult food-related behaviors to those with intellectual disability and found that SMS adults had more severe behavioral problems. Many neurodevelopmental disorders exhibit syndromic obesity including SMS. Prader-Willi syndrome (PWS) is the most frequent neurodevelopmental disorder with syndromic obesity and has a well-established management and treatment plan. Using the FRPQ we found that SMS adults had similar scores relative to PWS adults. Both syndromes manifest weight gain early in development, and the FRPQ scores highlight specific areas in which behavioral similarities exist, including preoccupation with food, impaired satiety, and negative behavioral responses. SMS food-related behavior treatment paradigms are not as refined as PWS, suggesting that current PWS treatments for prevention of obesity may be beneficial for individuals with SMS. Copyright © 2015 Elsevier Ltd. All rights reserved.

  4. Retrospective genetic study of germinative mutations in Str loci of individuals potentially exposed to ionizing radiation

    International Nuclear Information System (INIS)

    Costa, Emilia Oliveira Alves

    2010-01-01

    The Brazilian radiological accident that occurred in 1987, in Goiania, it was a terrible radiation episode. As a consequence, hundreds of people were contaminated due to the Cesium-137 radiation. Recently, many studies had shown that genome instabilities, such as, mutations, chromosomal aberrations, micronuclei formation and micro satellite instability and a delay on cellular death are usually reported on mammal cells exposed to ionizing radiation, being considered as a manly risk to humans. Mutations can be spontaneous, and the occurrence is dependent on the organism, or, induced, being associated to mutagenic exposition. Ionizing radiations are an example of physical and mutagenic agents that could harm the cell repair and could cause the development of many types of cancer. The evaluation of the biological effects of the ionizing radiation, in somatic and germ line cells, with a consequent determination of the radio-induced mutations, it is extremely important to estimate the genetic risks, manly in population exposed to radiation. The analyses of repetitive DNA sequences have been demonstrated that such sequences are prone to high rates of spontaneous mutations. The minisatellites and microsatellites have been used to demonstrate the induction of germ line mutation rates on mouse, humans, among others organisms. The aim of the present study was to analyze the frequency of microsatellite alterations to determine the mutation rates occurred in germ cells of the parents exposed to the ionizing radiation of the Cesium-137. The studied group was constitute of 10 families of individuals accidentally exposed to Cesium-137 and by the control group constituted by 645 healthy individuals who carried out paternity tests on 2009. We found only one mutation of paternal origin in the D8S1179 locus on the exposed group, being the mutation rate of 0.002. In the control group, we found 01 mutation on D16S539 loei and on D3S1358; 02 mutations on Penta E loeus; 04 mutations on D

  5. Multiple procedures and cumulative individual radiation exposure in interventional cardiology: A long-term retrospective study

    Energy Technology Data Exchange (ETDEWEB)

    Weltermann, Birgitta M.; Rock, Thomas; Berndt, Peter; Viehmann, Anja; Reinders, Sabrina; Gesenhues, Stefan [University of Duisburg-Essen, Institute for General Medicine, University Hospital, Essen (Germany); Brix, Gunnar; Schegerer, Alexander [Federal Office for Radiation Protection, Department of Radiation Protection and Health, Neuherberg (Germany)

    2015-09-15

    Various studies address discrepancies between guideline recommendations for coronary angiographies and clinical practice. While the issue of the appropriateness of recurrent angiographies was studied focusing on the role of the cardiologist, little is known about individual patients' histories and the associated radiation exposures. We analyzed all patients with coronary artery disease (CAD) in an academic teaching practice who underwent at least one angiography with or without intervention between 2004 and 2009. All performed angiographies in these patients were analyzed and rated by three physicians for appropriateness levels according to cardiology guidelines. Typical exposure data from the medical literature were used to estimate individual radiation exposure. In the cohort of 147 patients, a total of 441 procedures were analyzed: between 1981 and 2009, three procedures were performed per patient (range 1-19) on average. Appropriateness ratings were 'high/intermediate' in 71 %, 'low/no' in 27.6 % and data were insufficient for ratings in 1.4 %. Procedures with 'low/no' ratings were associated with potentially avoidable exposures of up to 186 mSv for single patients. Using retrospective data, we exemplify the potential benefit of guideline adherence to decrease patients' radiation exposures. (orig.)

  6. Individual response to ionising radiation: What predictive assay(s) to choose?

    International Nuclear Information System (INIS)

    Granzotto, A.; Viau, M.; Devic, C.; Maalouf, M.; Thomas, Ch.; Vogin, G.; Foray, N.; Granzotto, A.; Vogin, G.; Balosso, J.; Joubert, A.; Maalouf, M.; Vogin, G.; Colin, C.; Malek, K.; Balosso, J.; Colin, C.

    2011-01-01

    Individual response to ionizing radiation is an important information required to apply an efficient radiotherapy treatment against tumour and to avoid any adverse effects in normal tissues. In 1981, Fertil and Malaise have demonstrated that the post-irradiation local tumor control determined in vivo is correlated with clonogenic cell survival assessed in vitro. Furthermore, these authors have reminded the relevance of the concept of intrinsic radiosensitivity that is specific to each individual organ (Fertil and Malaise, 1981) [1]. To date, since clonogenicity assays are too time-consuming and do not provide any other molecular information, a plethora of research groups have attempted to determine the molecular bases of intrinsic radiosensitivity in order to propose reliable and faster predictive assays. To this aim, several approaches have been developed. Notably, the recent revolution in genomic and proteomics technologies is providing a considerable number of data but their link with radiosensitivity still remains to be elucidated. On another hand, the systematic screening of some candidate genes potentially involved in the radiation response is highlighting the complexity of the molecular and cellular mechanisms of DNA damage sensing and signalling and shows that an abnormal radiation response is not necessarily due to the impairment of one single protein. Finally, more modest approaches consisting in focusing some specific functions of DNA repair seem to provide more reliable clues to predict over-acute reactions caused by radiotherapy. In this review, we endeavored to analyse the contributions of these major approaches to predict human radiosensitivity. (authors)

  7. Advances in the medical management of the severe cutaneous radiation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Carsin, H.; Stephannazi, J. [Percy Hospital, Clamart (France). Burn Treatment Centre; Gourmelon, P.

    2000-05-01

    The cutaneous radiation syndrome is a dose dependant complex pathological syndrome which follows a brief localized exposure and characterized by erythema, swelling, moist desquamation, ulceration and necrosis (25-30 Gy). Highly penetrating gamma radiation induces severe dose dependent lesions involving skin, subcutaneous tissue, muscle, vessels, nerves and occasionally, bony structures. The classical treatment of this syndrome includes the debridement of devitalized tissues, the application of bacteriostatic agents coated in non-adherent dressings, opiate-based drugs and in some cases the use of non-steroidal anti-inflammatory drugs. For ulceration and necrosis treatment, the classical surgery is ulcerectomy, necrectomy and amputation for the distal extremity injuries. For the profound et large necrosis, the lesion should be excised and the wound bed covered with a good quality, full-thickness skin graft. Unfortunately the delayed of appearance of this syndrome results often in non specialized medical treatment. Furthermore, because of the chronic evolution (months or years) the management of the cutaneous radiation syndrome has not been considered as a priority for the medical management. Recent accident like the Georgian accident demonstrated that new techniques such as artificial skin graft could change significantly patient prognosis. This technique is routinely used for thermal burn in specialized burn units. We realized the first application of this methodology in the field of radiopathology. An important factor of this technique is that in the case of recurrence of radionecrosis. Often observed, using this technique further grafting may be employed. However the success of this procedure depends on an effective control of the infection. These has sadly been illustrated in the last accident case in Peru where it was impossible to perform the artificial skin graft due to the persistence of a non-eradicated local infection. Whether this particular approach has a

  8. Advances in the medical management of the severe cutaneous radiation syndrome

    International Nuclear Information System (INIS)

    Carsin, H.; Stephannazi, J.; Gourmelon, P.

    2000-01-01

    The cutaneous radiation syndrome is a dose dependant complex pathological syndrome which follows a brief localized exposure and characterized by erythema, swelling, moist desquamation, ulceration and necrosis (25-30 Gy). Highly penetrating gamma radiation induces severe dose dependent lesions involving skin, subcutaneous tissue, muscle, vessels, nerves and occasionally, bony structures. The classical treatment of this syndrome includes the debridement of devitalized tissues, the application of bacteriostatic agents coated in non-adherent dressings, opiate-based drugs and in some cases the use of non-steroidal anti-inflammatory drugs. For ulceration and necrosis treatment, the classical surgery is ulcerectomy, necrectomy and amputation for the distal extremity injuries. For the profound et large necrosis, the lesion should be excised and the wound bed covered with a good quality, full-thickness skin graft. Unfortunately the delayed of appearance of this syndrome results often in non specialized medical treatment. Furthermore, because of the chronic evolution (months or years) the management of the cutaneous radiation syndrome has not been considered as a priority for the medical management. Recent accident like the Georgian accident demonstrated that new techniques such as artificial skin graft could change significantly patient prognosis. This technique is routinely used for thermal burn in specialized burn units. We realized the first application of this methodology in the field of radiopathology. An important factor of this technique is that in the case of recurrence of radionecrosis. Often observed, using this technique further grafting may be employed. However the success of this procedure depends on an effective control of the infection. These has sadly been illustrated in the last accident case in Peru where it was impossible to perform the artificial skin graft due to the persistence of a non-eradicated local infection. Whether this particular approach has a

  9. A cytogenetic approach to the effects of low levels of ionizing radiations on occupationally exposed individuals

    Energy Technology Data Exchange (ETDEWEB)

    Zakeri, Farideh [National Radiation Protection Department, Iranian Nuclear Regulatory Authority, Nuclear Science and Research Institute-Agriculture, Medicine and Industry Research School, Tehran (Iran, Islamic Republic of); Graduate School of Science and Technology, Chiba University, Inage-ku, Chiba 263-8522 (Japan)], E-mail: fzakeri@aeoi.org.ir; Hirobe, Tomohisa [Graduate School of Science and Technology, Chiba University, Inage-ku, Chiba 263-8522 (Japan); Radiation Effect Mechanism Research Group, National Institute of Radiological Sciences, Inage-ku, Chiba 263-8555 (Japan)

    2010-01-15

    The aim of the present study was to assess occupationally induced chromosomal damage in hospital workers exposed to low levels of ionizing radiation. Thirty-two interventional cardiologists, 36 nuclear medicine physicians and 33 conventional radiologists were included in this study, along with 35 healthy age- and sex-matched individuals as the control group. We used conventional metaphase chromosome aberration (CA) analysis, cytokinesis-block micronucleus (MN) assay as important biological indicators of ionizing radiation exposure. Occupational dosimetry records were collected over the last year (ranged from 0.25 to 48 mSv) and their whole life exposure (ranged from 1.5 to 147 mSv). The results showed significantly higher frequencies of dicentric and acentric CAs (p < 0.001) and MN (p < 0.01) in all exposed groups than in the controls. Taking all the confounding factors into account, no obvious trend of increased chromosomal damages as a function of either duration of employment, exposed dose, sex or age was observed. Interventional cardiologists had the highest rates of CA and MN frequencies between the worker groups, though the differences were not significant. These results indicate that long term exposure to low dose ionizing radiation could result in DNA damage. Hence, the personnel who work in the hospitals should carefully apply the radiation protection procedures.

  10. A simple photographical method for analyzing the radiation interception by an individual tree

    International Nuclear Information System (INIS)

    Elsacker, P. van; Keppens, H.; Impens, I.

    1983-01-01

    A method for analyzing radiation interception by an individual tree is presented. The use of a whole set of expensive radiation instruments is eliminated, the work-intensive field experiments are reduced to half a day for a large tree (9 m), and neither clear sky conditions nor diffuse radiation data are necessary. It is assumed that for a given azimuth and solar elevation the shading caused by a tree can be estimated photographically by taking a slide in the opposite direction. From slides taken of the whole tree in different directions and from different distances (i.e., different view angles), gap frequencies for certain heights are measured. At each height, gap frequency decreases significantly with increasing solar elevation. By calculating the mean path length within the crown (s) corresponding with each gap frequency (g), a highly significant exponential relationship between both is obtained [g = exp(−0.42s)]. With this equation and by knowing the tree dimensions calculated from the slides, direct and diffuse radiation interception of the whole tree can be estimated. Total leaf area and leaf area density are also calculated. These values agree very well with direct measurements on similar cut trees

  11. Susceptibility-weighted imaging in stroke-like migraine attacks after radiation therapy syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Khanipour Roshan, Sara; Salmela, Michael B.; McKinney, Alexander M. [University Of Minnesota, Department of Radiology, Division of Neuroradiology, Minneapolis, MN (United States)

    2015-11-15

    Stroke-like migraine attacks after radiation therapy (SMART) syndrome has a characteristic clinical presentation and postcontrast T1WI MRI appearance. Susceptibility-weighted imaging (SWI) may help distinguish SMART from other disorders that may have a similar postcontrast MRI appearance. The MRI examinations of four patients with SMART syndrome are described herein, each of which included SWI, FLAIR, DWI, and postcontrast T1WI on the presenting and follow-up MRI examinations. In each, the initial SWI MRI demonstrated numerous susceptibility hypointensities <5 mm in size throughout the cerebrum, particularly within the periventricular white matter (PVWM), presumably related to radiation-induced cavernous hemangiomas (RICHs). By follow-up MRI, each postcontrast examination had demonstrated resolution of the gyriform enhancement on T1WI, without susceptibility hypointensities on SWI within those previously enhancing regions. These preliminary findings suggest that SWI may help identify SMART syndrome or at least help discriminate it from other disorders, by the findings of numerous susceptibility hypointensities on SWI likely representing RICHs, gyriform enhancement on T1WI, and postsurgical findings or appropriate clinical history. (orig.)

  12. The influence of the microbial factor on the death of animals by intestinal radiation syndrome

    International Nuclear Information System (INIS)

    Kudryavtsev, V.D.; Kartasheva, A.L.; Tsyran, N.I.

    1979-01-01

    Data obtained in rats and mice irradiated with 900 - 1600 rad 60 Co gamma radiation point to an important role of the microbial factor in the 'intestinal death'. At the climax of the intestinal syndrome dysbacterial conditions developed violently in the intestinal content under predominance of putrefactive bacteria (Proteus). The application of kanamycin according to an elaborated pattern completely suppressed the proteus growth in the intestine and decreased considerably the content of obligatory representatives of the intestinal flora by which most of the animals could survive the time of 'intestinal death' (3rd to 5th day) after irradiation with relatively low doses (900 - 1200 rad). With increasing radiation doses (up to 1400 rad and more) the antibacterial therapy became uneffective because of the increasing importance of other lethal factors. The analysis of these results as well as literature data allow the conclusion that microbial intoxication plays a leading role in the death of the animals at the initial period and at the climax of the intestinal syndrome (3rd to 4th day). At the final stage of the development of the intestinal syndrome (5th day) septicaemia supervened. (author)

  13. The immediate effects of foot orthoses on functional performance in individuals with patellofemoral pain syndrome.

    Science.gov (United States)

    Barton, C J; Menz, H B; Crossley, K M

    2011-03-01

    Patellofemoral pain syndrome (PFPS) often results in reduced functional performance. There is growing evidence for the use of foot orthoses to treat this multifactorial condition. In this study, the immediate effects of foot orthoses on functional performance and the association of foot posture and footwear with improvements in function were evaluated. Fifty-two individuals with PFPS (18-35 years) were prescribed prefabricated foot orthoses (Vasyli Pro; Vasyli International, Labrador, Australia). Functional outcome measures evaluated included the change in (1) pain and (2) ease of a single-leg squat on a five-point Likert scale, and change in the number of (3) pain-free step downs and (4) single-leg rises from sitting. The association of foot posture using the Foot Posture Index, navicular drop and calcaneal angle relative to subtalar joint neutral; and the footwear motion control properties scale score with improved function were evaluated using Spearman's ρ statistics. Prefabricated foot orthoses produced significant improvements (psquat and improvements in the number of pain-free single-leg rises from sitting when wearing foot orthoses. In addition, a more pronated foot type was also found to be associated with improved ease of completing a single-leg squat when wearing foot orthoses. Prefabricated foot orthoses provide immediate improvements in functional performance, and these improvements are associated with a more pronated foot type and poorer footwear motion control properties.

  14. The Metabolic Syndrome Predicts Longitudinal Changes in Clock Drawing Test Performance in Older Nondemented Hypertensive Individuals.

    Science.gov (United States)

    Viscogliosi, Giovanni; Chiriac, Iulia Maria; Andreozzi, Paola; Ettorre, Evaristo

    2016-05-01

    The present study evaluated the metabolic syndrome (MetS) as independent predictor of 1-year longitudinal changes in cognitive function. 104 stroke- and dementia-free older hypertensive subjects were studied. MetS was defined by NCEP ATP-III criteria. Cognitive function was assessed by the Clock Drawing Test (CDT); 1-year changes in cognitive function were expressed as annual changes in CDT performance. Brain magnetic resonance imaging studies (1.5T) were performed. Participants with MetS exhibited greater cognitive decline than those without (-1.78 ± 1.47 versus -0.74 ± 1.44 CDT points, t = 3.348, df = 102, p < 0.001). MetS predicted cognitive decline (β = -0.327, t = -3.059, df = 96, p = 0.003) independently of its components, age, baseline cognition, neuroimaging findings, blood pressure levels, and duration of hypertension. With the exception of systolic blood pressure, none of the individual components of MetS explained 1-year changes in CDT performance. MetS as an entity predicted accelerated 1-year decline in cognitive function, assessed by CDT, in a sample of older hypertensive subjects. Copyright © 2016 American Association for Geriatric Psychiatry. Published by Elsevier Inc. All rights reserved.

  15. Evaluation of insulin resistance in idiopathic hirsutism compared with polycystic ovary syndrome patients and healthy individuals.

    Science.gov (United States)

    Bonakdaran, Shokoufeh; Kiafar, Bita; Barazandeh Ahmadabadi, Fatemeh

    2016-02-01

    Hirsutism is defined as the excessive male-pattern growth of hair in women. Hirsutism is often idiopathic or the consequence of polycystic ovary syndrome (PCOS). Insulin resistance is common in PCOS (especially in obese patients) but the association between insulin resistance and idiopathic hirsutism (IH) is not clear. The aim of this study was to investigate the rate of insulin resistance in IH, compared with healthy individuals and patients with PCOS. The study included three groups, patients with idiopathic hirsutism, PCOS and healthy women. Each group included 30 non-obese women. Fasting blood sugar (FBS), insulin level and insulin resistance (estimated by the homeostasis model assessment [HOMA-IRIR]) were compared in the three groups. There was a significant difference between the age of the women with IH compared with two other groups. There were no significant difference in levels of serum insulin (P = 0.49, HOMA-IR (P = 0.47) and prevalence of insulin resistance (P = 0.07) in the three groups. The age-adjusted prevalence of insulin resistance was similar in the three groups. Insulin resistance was no more frequent in IH patients than in healthy control groups. © 2014 The Australasian College of Dermatologists.

  16. Concurrent validation of a pressure pain threshold scale for individuals with myofascial pain syndrome and fibromyalgia.

    Science.gov (United States)

    Cheatham, Scott W; Kolber, Morey J; Mokha, G Monique; Hanney, William J

    2018-02-01

    Manual pressure palpation is an examination technique used in the classification of myofascial pain syndrome (MPS) and fibromyalgia (FM). Currently, there are no validated systems for classifying results. A valid and reliable pressure pain threshold scale (PPTS) may provide a means for clinicians to grade, document, and report findings. The purpose of this investigation was to validate a PPTS in individuals diagnosed with MPS and FM. Intra-rater reliability, concurrent validity, minimum cut-off value, and patient responses were evaluated. Eighty-four participants who met the inclusion criteria were placed into three groups of 28 ( N = 84): MPS, FM, and asymptomatic controls. All participants underwent a two-part testing session using the American College of Rheumatology criteria for classifying FM. Part-1 consisted of manual palpation with a digital pressure sensor for pressure consistency and part 2 consisted of algometry. For each tender point (18 total), participants graded tenderness using the visual analog scale (VAS) while the examiner concurrently graded response using a five-point PPTS. The PPTS had good intra-rater reliability (ICC ≥ .88). A moderate to excellent relationship was found between the PPTS and VAS for all groups with the digital pressure sensor and algometer ( ρ  ≥ .61). A minimum cut-off value of 2 on the PPTS differentiated participants with MPS and FM from asymptomatic controls. The results provide preliminary evidence validating the PPTS for individuals with MPS and FM. Future research should further study the clinimetric properties of the PPTS with other chronic pain and orthopedic conditions. 2c. ClinicalTrials.gov registration No. NCT02802202.

  17. Estimating photosynthetic radiation use efficiency using incident light and photosynthesis of individual leaves.

    Science.gov (United States)

    Rosati, A; Dejong, T M

    2003-06-01

    It has been theorized that photosynthetic radiation use efficiency (PhRUE) over the course of a day is constant for leaves throughout a canopy if leaf nitrogen content and photosynthetic properties are adapted to local light so that canopy photosynthesis over a day is optimized. To test this hypothesis, 'daily' photosynthesis of individual leaves of Solanum melongena plants was calculated from instantaneous rates of photosynthesis integrated over the daylight hours. Instantaneous photosynthesis was estimated from the photosynthetic responses to photosynthetically active radiation (PAR) and from the incident PAR measured on individual leaves during clear and overcast days. Plants were grown with either abundant or scarce N fertilization. Both net and gross daily photosynthesis of leaves were linearly related to daily incident PAR exposure of individual leaves, which implies constant PhRUE over a day throughout the canopy. The slope of these relationships (i.e. PhRUE) increased with N fertilization. When the relationship was calculated for hourly instead of daily periods, the regressions were curvilinear, implying that PhRUE changed with time of the day and incident radiation. Thus, linearity (i.e. constant PhRUE) was achieved only when data were integrated over the entire day. Using average PAR in place of instantaneous incident PAR increased the slope of the relationship between daily photosynthesis and incident PAR of individual leaves, and the regression became curvilinear. The slope of the relationship between daily gross photosynthesis and incident PAR of individual leaves increased for an overcast compared with a clear day, but the slope remained constant for net photosynthesis. This suggests that net PhRUE of all leaves (and thus of the whole canopy) may be constant when integrated over a day, not only when the incident PAR changes with depth in the canopy, but also when it varies on the same leaf owing to changes in daily incident PAR above the canopy. The

  18. An automated single ion hit at JAERI heavy ion microbeam to observe individual radiation damage

    International Nuclear Information System (INIS)

    Kamiya, Tomihiro; Sakai, Takuro; Naitoh, Yutaka; Hamano, Tsuyoshi; Hirao, Toshio

    1999-01-01

    Microbeam scanning and a single ion hit technique have been combined to establish an automated beam positioning and single ion hit system at the JAERI Takasaki heavy ion microbeam system. Single ion irradiation on preset points of a sample in various patterns can be performed automatically in a short period. The reliability of the system was demonstrated using CR-39 nuclear track detectors. Single ion hit patterns were achieved with a positioning accuracy of 2 μm or less. In measurement of single event transient current using this system, the reduction of the pulse height by accumulation of radiation damages was observed by single ion injection to the same local areas. This technique showed a possibility to get some quantitative information about the lateral displacement of an individual radiation effect in silicon PIN photodiodes. This paper will give details of the irradiation system and present results from several experiments

  19. Individual neutron monitoring in workplaces with mixed neutron/proton radiation

    International Nuclear Information System (INIS)

    Bolognese-Milsztajn, T.; Bartlett, D.; Boschung, M.; Coeck, M.; Curzio, G.; D'Errico, F.; Fiechtner, A.; Giusti, V.; Gressier, V.; Kylloenen, J.; Lacoste, V.; Lindborg, L.; Luszik-Bhadra, M.; Molinos, C.; Pelcot, G.; Reginatto, M.; Schuhmacher, H.; Tanner, R.; Vanhavere, F.; Derdau, D.

    2004-01-01

    EVIDOS ('evaluation of individual dosimetry in mixed neutron and photon radiation fields') is an European Commission (EC)-sponsored project that aims at a significant improvement of radiation protection dosimetry in mixed neutron/photon fields via spectrometric and dosimetric investigations in representative workplaces of the nuclear industry. In particular, new spectrometry methods are developed that provide the energy and direction distribution of the neutron fluence from which the reference dosimetric quantities are derived and compared to the readings of dosemeters. The final results of the project will be a comprehensive set of spectrometric and dosimetric data for the workplaces and an analysis of the performance of dosemeters, including novel electronic dosemeters. This paper gives an overview of the project and focuses on the results from measurements performed in calibration fields with broad energy distributions (simulated workplace fields) and on the first results from workplaces in the nuclear industry, inside a boiling water reactor and around a spent fuel transport cask. (authors)

  20. Evaluation of the influence of clinical symptoms on the quality of life in individuals with Williams-Beuren Syndrome

    Directory of Open Access Journals (Sweden)

    Andrea Parolin Jackowski

    2017-03-01

    Full Text Available Introduction: Williams-Beuren Syndrome (WBS results from a deletion in the chromosome 7q11.23. Psychiatric symptoms, such as Generalized Anxiety Disorder (GAD, Attention Deficit Hyperactivity Disorder (ADHD, and others, have been described in this syndrome. Objective: The main purpose of this study was to identify related clinical symptoms in individuals with WBS and the impact of this disorder in their quality of life. Method: The study sample included 42 individuals aged 11 to 16 years divided into two groups: a study group composed of 20 individuals with WBS and a control group comprising 22 individuals with typical development. The following instruments were used in this evaluation: Brazilian Criterion of Economic Classification (CCEB, to estimate the purchasing power of urban households; Strengths & Difficulties Questionnaire (SDQ, to provide a useful measure of psychopathology applied to children and youth aged 4-17 years; and Quality of Life Evaluation Scale (AUQEI, to assess the feeling of well-being according to the opinion of the child and adolescent. Results: The results suggest that adolescents with WBS have a good quality of life despite presenting greater possibilities of psychiatric symptoms. These results are valid considering that quality of life is measured from the opinion of the assessed individual. Conclusion: We hypothesized that adolescents with WBS can present a distortion of reality regarding the positive/optimistic factor, possibly based on some characteristics of the syndrome such as being always cheerful and smiling, which are factors associated with intellectual disability.

  1. Individuals with 22q11.2 Deletion Syndrome Are Impaired at Explicit, but Not Implicit, Discrimination of Local Forms Embedded in Global Structures

    Science.gov (United States)

    Giersch, Anne; Glaser, Bronwyn; Pasca, Catherine; Chabloz, Mélanie; Debbané, Martin; Eliez, Stephan

    2014-01-01

    Individuals with 22q11.2 deletion syndrome (22q11.2DS) are impaired at exploring visual information in space; however, not much is known about visual form discrimination in the syndrome. Thirty-five individuals with 22q11.2DS and 41 controls completed a form discrimination task with global forms made up of local elements. Affected individuals…

  2. First assessment of individual monitoring of medical workers occupationally exposed to ionizing radiation in Burkina Faso

    International Nuclear Information System (INIS)

    Yakoro, A.; Nobila Ouédraogo, Salimata Traoré

    2010-01-01

    This paper reports the results of monitoring of medical workers occupationally exposed to ionizing radiation as a consequence of exposure to X-rays, from 2007 to 2010, in Burkina Faso. The radiation exposure monitoring was made with thermoluminescent dosimeters (TLD-100) type 0110 and the reader used was Harshaw 4500. The medical establishments. subscribers were provided with personal dosimeters (measuring Hp (10) and Hp (0.07)) and dosimeters for background and workplace exposure (H*10) measurement. The dosimeters have been worn for periods of 2 months each. The number of establishments subscribed and workers monitored has gradually increased from 4 radiology establishments with 13 workers monitored at September 2007 to 23 subscribers with 121 workers monitored at the end of April 2010. 13 establishments were still working without monitoring. From September 2007 to April 2010, no individual annual dose limit has really been reached. 88.16% of the 2 months dose values of personal dosimeters were below 0.1mSv, the detection limit and 96.61% of Hp (10) bimonthly values were below 3.33mSv. The workplace exposure monitoring values were often low (varying from 0.00mSv to 40.45mSv). 87.08% of the values of H*(10) were below 3.33mSv, the upper limit of Hp (10) for a period of 2 months. Low values of individual dose have also been recorded despite of high values of workplace monitoring. This allowed to state that the workers monitored were not exposed to a major risk. Nevertheless, 13 TLD have been lost and 3 damaged by subscribers (out of 1504 TLD provided). 26 times (out of 240), background measurement and workplace exposure monitoring dosimeters have been placed at the improper location. Therefore, sensitization of the establishments using ionizing radiation should be reinforced and the national regulations should impose radiation monitoring (author)

  3. Auditory and Visual Memory Span: Cognitive Processing by TMR Individuals with Down Syndrome or Other Etiologies.

    Science.gov (United States)

    Varnhagen, Connie K.; And Others

    1987-01-01

    Auditory and visual memory span were examined with 13 Down Syndrome and 15 other trainable mentally retarded young adults. Although all subjects demonstrated relatively poor auditory memory span, Down Syndrome subjects were especially poor at long-term memory access for visual stimulus identification and short-term storage and processing of…

  4. Contributors to Adult Sibling Relationships and Intention to Care of Siblings of Individuals with Down Syndrome

    Science.gov (United States)

    Cuskelly, Monica

    2016-01-01

    The contribution of childhood sibling relationships to adult sibling relationships and intention to provide care was investigated in a sample in which one member of each dyad had Down syndrome. Thirty-nine adult siblings of an adult with Down syndrome who had participated in a study of sibling relationships in childhood/adolescence provided data…

  5. Intracranial arteries in individuals with the elastin gene hemideletion of Williams syndrome.

    Science.gov (United States)

    Wint, D P; Butman, J A; Masdeu, J C; Meyer-Lindenberg, A; Mervis, C B; Sarpal, D; Morris, C A; Berman, K F

    2014-01-01

    Williams syndrome, a rare genetic disorder with a striking neurobehavioral profile characterized by extreme sociability and impaired visuospatial construction abilities, is caused by a hemideletion that includes the elastin gene, resulting in frequent supravavular aortic stenosis and other stenotic arterial lesions. Strokes have been reported in Williams syndrome. Although the extracranial carotid artery has been studied in a sample of patients with Williams syndrome, proximal intracranial arteries have not. Using MRA, we studied the intracranial vessels in 27 participants: 14 patients with Williams syndrome (age range, 18-44 years; mean age, 27.3 ± 9.1; 43% women) and 13 healthy control participants with similar age and sex distribution (age range, 22-52 years; mean age, 33.4 ± 7.6; 46% women). All participants with Williams syndrome had hemideletions of the elastin gene. Blinded to group allocation or to any other clinical data, a neuroradiologist determined the presence of intracranial vascular changes in the 2 groups. The Williams syndrome group and the healthy control group had similar patency of the proximal intracranial arteries, including the internal carotid and vertebral arteries; basilar artery; and stem and proximal branches of the anterior cerebral artery, MCA, and posterior cerebral arteries. The postcommunicating segment of the anterior cerebral artery was longer in the Williams syndrome group. Despite the elastin haploinsufficiency, the proximal intracranial arteries in Williams syndrome preserve normal patency.

  6. Problem behavior of individuals with down syndrome in a nationwide cohort assessed in late adolescence

    NARCIS (Netherlands)

    Gameren-Oosterom, H.B.M.; Fekkes, M.; Wouwe, J.P. van; Detmar, S.B.; Oudesluys-Murphy, A.M.; Verkerk, P.H.

    2013-01-01

    OBJECTIVE: To assess problem behavior in adolescents with Down syndrome and examine the association with sex and severity of intellectual disability. STUDY DESIGN: Cross-sectional data of a Dutch nationwide cohort of Down syndrome children aged 16-19 years were collected using a written parental

  7. Inter-Individual Variability in Human Response to Low-Dose Ionizing Radiation, Final Report

    Energy Technology Data Exchange (ETDEWEB)

    Rocke, David [Univ. of California, Davis, CA (United States)

    2016-08-01

    In order to investigate inter-individual variability in response to low-dose ionizing radiation, we are working with three models, 1) in-vivo irradiated human skin, for which we have a realistic model, but with few subjects, all from a previous project, 2) ex-vivo irradiated human skin, for which we also have a realistic model, though with the limitations involved in keeping skin pieces alive in media, and 3) MatTek EpiDermFT skin plugs, which provides a more realistic model than cell lines, which is more controllable than human samples.

  8. Inter-Individual Variability in Human Response to Low-Dose Ionizing Radiation, Final Report

    International Nuclear Information System (INIS)

    Rocke, David

    2016-01-01

    In order to investigate inter-individual variability in response to low-dose ionizing radiation, we are working with three models, 1) in-vivo irradiated human skin, for which we have a realistic model, but with few subjects, all from a previous project, 2) ex-vivo irradiated human skin, for which we also have a realistic model, though with the limitations involved in keeping skin pieces alive in media, and 3) MatTek EpiDermFT skin plugs, which provides a more realistic model than cell lines, which is more controllable than human samples.

  9. Properties of an electret ionisation chamber for individual dosimetry in photon radiation fields

    International Nuclear Information System (INIS)

    Doerschel, B.; Pretzsch, G.

    1985-01-01

    The main properties of individual photon dosemeters are their energy and angular dependence and their measuring range and measurement accuracy. The determination of radiation exposure from the dosemeter readout is based on the choice of appropriate conversion factors, taking into account the influence of body backscatter on the dosemeter readout. The measurement range and accuracy of an electret ionisation chamber primarily depend on the electret stability and charge state measurement as well as on the chamber geometry. Dosimetric properties are described for an electret ionisation chamber designed for personnel monitoring. (author)

  10. Degree and therapy of acute radiation syndromes. Introduction of a suggestion on acute radiation sickness therapy made by strategic national stockpile radiation working group of USA. part 2

    International Nuclear Information System (INIS)

    Min Rui; Pan Zhen; Li Yu

    2005-01-01

    Recommendations based on radiation dose and physiologic response are made for treatment of the hematopoietic syndrome. Therapy includes treatment with hematopoietic cytokines, blood transfusion, and stem-cell transplantation in selected cases. Additional medical management based on the evolution of clinical signs and symptoms includes the use of antimicrobial agents (quinolones, antiviral therapy, and antifungal agents), antiemetic agents, and analgesic agents. Because of the strong psychological impact of a possible radiation exposure, psychosocial support will be required for those exposed, regardless of the dose, as well as for family and friends. Treatment of pregnant women must account for risk to the fetus. For terrorist or accidental events involving exposure to radioiodines, prophylaxis against malignant disease of the thyroid is also recommended, particularly for children and adolescents. (authors)

  11. Appraisal of individual radiation risk in the context of probabilistic exposures

    International Nuclear Information System (INIS)

    Bohnenblust, H.; Pretre, S.

    1990-01-01

    There exists a growing desire to base safety criteria in different fields on the same principles. The current approach by the international Commission on Radiological Protection (ICRP) to control radiation exposure touches many aspects such as social, psychological, or economic factors that are important for such principles. This paper attempts to further explore possible ways of defining a common basis for dealing with radiation risks and other safety problems. Specifically, it introduces the following issues: different types of risk are judged differently. To account for this, the concept of risk categories is introduced. The dimension of time may play an important role. There is a difference between an immediate death and a death occurring 20 years after exposure to radiation. Effects such as reduced quality of life after exposure and reduction of lifetime expectancy are discussed. The paper suggests to introduce an individual risk equivalent which allows to compare risks as defined in various fields. Furthermore, it suggests the use of risk acceptance criteria which depend on the different categories of risk

  12. Cytogenetic and molecular characterization of 57 individuals with the Parder-Willi syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Butler, M.G.; Forrest, K.B.; Miller, L.K. [Vanderbilt Univ. School of Medicine, Nashville, TN (United States)

    1994-09-01

    Prader-Willi syndrome (PWS) is characterized by hypotonia, early childhood obesity, mental deficiency, hypogonadism and an interstitial deletion of 15q11q13 of paternal origin in 50-70% of patients. The remaining patients have either submicroscopic deletions, maternal disomy or other anomalies of chromosome 15. We have undertaken cytogenetic and molecular genetic studies of 57 individuals presenting with features consistent with PWS (28 males and 29 females; age range of 3 months to 38 years), 25 with recognizable 15q11q13 deletions (44%), 28 with normal appearing chromosomes (49%), and four patients with other chromosome 15 anomalies (7%). High resolution chromosome analysis and PCR amplification were performed utilizing 17 STRs from 15q11q13 region, quantitative Southern hybridization using seven 15q11q13 probes, and fluorescence in situ hybridization (FISH) using four 15q11q13 probes (4-3R, SNRPN, 3-21, and GABRB3). The cytogenetic deletion was paternal in all PWS families studied but the deletion varied in size in 10 patients. Parental DNA studies from 20 of 28 non-deletion patients showed maternal disomy in 7 patients and biparental inheritance in 13 non-deletion patients. In order to evaluate for submicroscopic deletions, PCR amplification with several loci in the area of the PWS minimal critical region, FISH using SNRPN and quantitative hybridization using a PCR product generated from primers of exons E and H of the SNRPN gene were undertaken on the non-deletion patients. Quantitative hybridization and FISH using SNRPN from 3 of 11 non-deletion patients (excluding maternal disomy cases) showed a submicroscopic deletion. One of these patients also showed a paternal deletion of D15S128 and MN1. We furthur support the use of both cytogenetic and molecular genetic methods for determining the genetic status of PWS patients.

  13. Morphological and glucose metabolism abnormalities in alcoholic Korsakoff's syndrome: group comparisons and individual analyses.

    Directory of Open Access Journals (Sweden)

    Anne-Lise Pitel

    Full Text Available BACKGROUND: Gray matter volume studies have been limited to few brain regions of interest, and white matter and glucose metabolism have received limited research attention in Korsakoff's syndrome (KS. Because of the lack of brain biomarkers, KS was found to be underdiagnosed in postmortem studies. METHODOLOGY/PRINCIPAL FINDINGS: Nine consecutively selected patients with KS and 22 matched controls underwent both structural magnetic resonance imaging and (18F-fluorodeoxyglucose positron emission tomography examinations. Using a whole-brain analysis, the between-group comparisons of gray matter and white matter density and relative glucose uptake between patients with KS and controls showed the involvement of both the frontocerebellar and the Papez circuits, including morphological abnormalities in their nodes and connection tracts and probably resulting hypometabolism. The direct comparison of the regional distribution and degree of gray matter hypodensity and hypometabolism within the KS group indicated very consistent gray matter distribution of both abnormalities, with a single area of significant difference in the middle cingulate cortex showing greater hypometabolism than hypodensity. Finally, the analysis of the variability in the individual patterns of brain abnormalities within our sample of KS patients revealed that the middle cingulate cortex was the only brain region showing significant GM hypodensity and hypometabolism in each of our 9 KS patients. CONCLUSIONS/SIGNIFICANCE: These results indicate widespread brain abnormalities in KS including both gray and white matter damage mainly involving two brain networks, namely, the fronto-cerebellar circuit and the Papez circuit. Furthermore, our findings suggest that the middle cingulate cortex may play a key role in the pathophysiology of KS and could be considered as a potential in vivo brain biomarker.

  14. Therapy service use among individuals with fragile X syndrome: findings from a US parent survey.

    Science.gov (United States)

    Martin, G E; Ausderau, K K; Raspa, M; Bishop, E; Mallya, U; Bailey, D B

    2013-09-01

    Fragile X syndrome (FXS) is known to be associated with a range of developmental challenges, yet the occurrence and intensity of therapy services along with associated factors have not been determined. In a US national survey, caregivers provided information regarding the therapy services received by their sons (n = 1013) and daughters (n = 283) with FXS (from birth to 63 years; mean = 15.6 years, SD = 10.6). Caregivers reported (1) type, (2) amount, (3) location, and (4) overall satisfaction with services. Associations with other child variables and family income were also examined. Key findings included that 72% of males and 47% of females were currently receiving at least one type of therapy service; the most common services for both males and females were speech-language therapy (ST) and occupational therapy (OT). Overall, males were more likely to receive therapy services as well as a greater number of services than females. Autism status was significantly associated with both males and females receiving ST and males receiving OT and behaviour management therapy. Therapies were provided in a variety of locations, and parents were generally satisfied with the amount and quality of therapy services. Age-related declines were evident in the use of services for both males and females, with very few individuals receiving any therapy services after 20 years of age. This study provides a baseline description of the current state of therapy services for children with FXS, laying a foundation for future research and recommendations for service provision and policy. © 2012 The Authors. Journal of Intellectual Disability Research © 2012 John Wiley & Sons Ltd, MENCAP & IASSID.

  15. Is 24-color FISH detection of in-vitro radiation-induced chromosomal aberrations suited to determine individual intrinsic radiosensitivity?

    International Nuclear Information System (INIS)

    Kuechler, A.; Wendt, T.G.; Neubauer, S.; Grabenbauer, G.G.; Sauer, R.; Claussen, U.; Liehr, T.

    2002-01-01

    Background: Reliable determination of intrinsic radiosensitivity in individual patients is a serious need in radiation oncology. Chromosomal aberrations are sensitive indicators of a previous exposure to ionizing irradiation. Former molecular cytogenetic studies showed that such aberrations as an equivalent of intrinsic radiosensitivity can be detected by fluorescence in-situ hybridization (FISH) techniques using whole chromosome painting (wcp) probes. However, only one up to three randomly chosen wcp probes have been applied for such approaches until now. As a random distribution of chromosomal rearrangements along the chromosomes is up to now still controversial, the power of the 24-color FISH approach should be elucidated in the present study. Methods and Material: Lymphocytes derived from lymphoblastoid cell lines of one patient with Nijmegen breakage syndrome (NBS homozygote) and of two NBS heterozygotes and peripheral blood lymphocytes of two controls were analyzed. Samples of each patient/control were irradiated in vitro with 0.0 Gy, 0.7 Gy or 2.0 Gy prior to cultivation. Chromosomal aberrations were analyzed in detail and quantified by means of 24-color FISH as an expression of the individual intrinsic radiosensitivity. Results: 24-color FISH analyses were done in a total of 1,674 metaphases. After in-vitro irradiation, 21% (0.7 Gy) or 57% (2.0 Gy) of the controls' cells, 15% (0.7 Gy) or 53% (2.0 Gy) of the heterozygotes' cells and 54% (0.7 Gy) or 79% (2.0 Gy) of the homozygote's cells contained aberrations. The highest average rates of breaks per mitosis [B/M] (0.7 Gy: 1.80 B/M, 2.0 Gy: 4.03 B/M) and complex chromosomal rearrangements [CCR] (0.7 Gy: 0.20 CCR/M, 2.0 Gy: 0.47 CCR/M) were observed in the NBS patient. Moreover, the proportion of different aberration types after irradiation showed a distinct increase in the rate of CCR combined with a decrease in dicentrics in the NBS homozygote. Conclusion: To come to a more complete picture of radiation

  16. The present value of the diagnosis and therapy of the acute radiation syndrome

    International Nuclear Information System (INIS)

    Fliedner, T.M.

    1975-01-01

    The pathophysiological understanding of the acute radiation syndrome could be distinctly improved by the new research results in cell system physiology. It was thus possible to assign radiation-damaged persons to categories reflecting the most probable course of the disease within a few hours or days. This assignment has consequences for the therapeutical measures. Either nor measures or at least no stationary measures are necessary (recovery 'certain' or 'probable'), or the exposure was so great that death occurs within 2-3 days (recovery 'impossible'). The assigning to the category recovery 'improbable' or 'possible' leads to introducing special therapeutical measures where firstly an infection prophylaxis with antibiotics difficult to absorb in an isolation bed system ('sterile therapy') is necessary. Then, however, (in cases of certain inability to regenerate the bone marrow) a stem-call (bone marrow) transplantaion must be performed. (orig.) [de

  17. Adult siblings of individuals with Down syndrome versus with autism: findings from a large-scale US survey.

    Science.gov (United States)

    Hodapp, R M; Urbano, R C

    2007-12-01

    As adults with Down syndrome live increasingly longer lives, their adult siblings will most likely assume caregiving responsibilities. Yet little is known about either the sibling relationship or the general functioning of these adult siblings. Using a national, web-based survey, this study compared adult siblings of individuals with Down syndrome to siblings of individuals with autism in terms of a potential 'Down syndrome advantage' and changes across age of the brother/sister with disabilities. Two groups were examined, siblings of persons with Down syndrome (n = 284) and with autism (n = 176). The Adult Sibling Questionnaire measured the number and length of contacts between siblings and their brothers/sisters with disabilities; the warmth, closeness and positiveness of the sibling relationship; and the sibling's overall levels of perceived health, depression and rewards of being a sibling. Compared with siblings of brothers/sisters with autism, siblings of brothers/sisters with Down syndrome showed closer, warmer sibling relationships, along with slightly better health, lower levels of depressive symptoms and more contacts. Across age groups of the brother/sister with disabilities, both groups showed lessened contacts, with less close sibling relationships occurring when brothers/sisters with disabilities were aged 30-44 years and 45 years and older (in Down syndrome) and 45 years and older (in autism). Within both groups, closer sibling relationships were associated with more frequent and lengthy contacts, brothers/sisters with disabilities who were better at maintaining friendships and had lower levels of behavioural/emotional problems, and siblings who felt themselves more rewarded by being a sibling to a brother/sister with disabilities. In line with earlier work on families of children with disabilities, this study shows an advantage for siblings of adults with Down syndrome, in terms of both sibling relationships and of slightly better health and

  18. [Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II].

    Science.gov (United States)

    López, Greizy; Gelvez, Nancy Yaneth; Tamayo, Martalucía

    2011-03-01

    Usher syndrome is a disorder characterized by progressive retinitis pigmentosa, prelingual sensory hearing loss and vestibular dysfunction. It is the most frequent cause of deaf-blindness in humans. Three clinical types and twelve genetic subtypes have been characterized. Type II is the most common, and among these cases, nearly 80% have mutations in the USH2A gene. The aim of the study was to establish the mutational frequencies for the short isoform of USH2A gene in Usher syndrome type II. Twenty-six Colombian individuals with Usher syndrome type II were included. SSCP analysis for 20 exons of the short isoform was performed and abnormal patterns were sequenced. Sequencing of exon 13 of the USH2A gene was performed for all the individuals because the most frequent mutation is located in this exon. The most frequent mutation was c.2299delG, identified in the 27% (n=8) of the sample. The second mutation, p.R334W, showed a frequency of 15%. A new variant identified in the 5’UTR region, g.129G>T, was present in 1 individual (4%). Four polymorphisms were identified; one of them is a new deletion in exon 20, first reported in this study. Mutations in the usherin short isoform were identified in 38% of a sample of 26 USH2 cases. Molecular diagnosis was established in 7 of the 26.

  19. High Frequency of AML1/RUNX1 Point Mutations in Radiation-Associated Myelodysplastic Syndrome Around Semipalatinsk Nuclear Test Site

    OpenAIRE

    Dinara, ZHARLYGANOVA; Hironori, HARADA; Yuka, HARADA; Sergey, SHINKAREV; Zhaxybay, ZHUMADILOV; Aigul, ZHUNUSOVA; Naylya J., TCHAIZHUNUSOVA; Kazbek N., APSALIKOV; Vadim, KEMAIKIN; Kassym, ZHUMADILOV; Noriyuki, KAWANO; Akiro, KIMURA; Masaharu, HOSHI; Department of Radiation Biophysics, Research Institute for Radiation Biology and Medicine, Hiroshima University; Department of Hematology and Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University

    2008-01-01

    It is known that bone marrow is a sensitive organ to ionizing radiation, and many patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS) have been diagnosed in radiation-treated cases and atomic bomb survivors in Hiroshima and Nagasaki. The AML1/RUNX1 gene has been known to be frequently mutated in MDS/AML patients among atomic bomb survivors and radiation therapy-related MDS/AML patients. In this study, we investigated the AML1 mutations in radiation-exposed patients wi...

  20. Implication of new CEC recommendations for individual monitoring for external radiation doses to the skin and the extremities

    DEFF Research Database (Denmark)

    Christensen, P.; Julius, H.W.; Marshall, T.O.

    1991-01-01

    A drafting group consisting of the above authors has assisted the CEC in revising the CEC document Technical Recommendations for Monitoring the Exposure to Individuals to External Radiation, EUR 5287, published in 1975. The paper highlights sections of the revised version relating particularly...... to irradiation of the skin and the extremities and focusses on problems connected to exposure to weakly penetrating radiations. Concepts of individual monitoring for external radiation exposures to the skin of the whole body and to the extremities are discussed and guidance is given as regards dose quantities...

  1. Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome

    DEFF Research Database (Denmark)

    Starnawska, A; Hansen, C S; Sparsø, T

    2017-01-01

    Individuals with 22q11.2 deletion syndrome (DS) have an increased risk of comorbid mental disorders including schizophrenia, attention deficit hyperactivity disorder, depression, as well as intellectual disability. Although most 22q11.2 deletion carriers have the long 3-Mb form of the hemizygous...... deletion, there remains a large variation in the development and progression of psychiatric disorders, which suggests that alternative factors contribute to the pathogenesis. In this study we investigated whether neonatal DNA methylation signatures in individuals with the 22q11.2 deletion associate...

  2. Variability of individual normal tissue radiation sensitivity. An international empirical evaluation of endogenous and exogenous

    International Nuclear Information System (INIS)

    Zimmermann, J.S.; Kumpf, L.; Kimmig, B.

    1998-01-01

    Background: The variability of normal-tissue response is of major concern for radiation therapy. Multiple endogenous and exogenous factors are qualitatively known to alter the acute and late tissue response. Which of them are regarded most important by the European radiation oncologists and what is, empirically, their quantitative influence on the acute or late tissue tolerance? Methods: In August 1997, we sent a questionnaire to 255 European radiation oncology departments. Among others, the questionnaire asked for endogenous and exogenous factors modifying the tissue response to radiation therapy and their quantitative influence on the acute and late radiation morbidity (TD5/5). Fifty-five questionnaires (21.5%) were answered. Results: Empirically, the most important endogenous factors to modify the acute tissue tolerance are (a) metabolic/other diseases with macro- or microangiopathia (17 answers [a]/32% mean decrease of tissue tolerance), (b) collagen diseases (9 a/37%) and (c) immune diseases (5 a/53%). As endogenous response modifiers for the TD5/5 are recognized (a) metabolic or other diseases leading to marcro- or microangiopathia (15 a/31%), (b) collagen diseases (11 a/38%) and (c) immune diseases (2 a/50%). Inflammations from any reason are assumed to alter the acute tissue tolerance by (6 a/26%) and the TD5/5 by (10 a/24%). Exogenous modifiers of the acute tissue response mentioned are (a) smoking (34 a/44%), (b) alcohol (23 a/45%), (c) nutrition/diets (16 a/45%), (d) hygiene (9 a/26%) and (e) medical therapies (10 a/37%). Exogenous factors assumed to influence the TD5/5 are (a) smoking (22 a/40%), (b) alcohol (15 a/38%), (c) nutrition/diets (9 a/48%), (d) hygiene (5 a/34%) and (e) medical therapies (10 a/30%). Conclusions: Exogenous factors are regarded more important by number and extent on the acute and late tissue response than endogenous modifiers. Both may have an important influence on the individual expression of normal tissue response. (orig

  3. Assessment of individual radiosensitivity in human lymphocytes of cancer patients and its correlation with adverse side effects to radiation therapy

    CERN Document Server

    Di Giorgio, M; Busto, E; Mairal, L; Menendez, P; Roth, B; Sardi, M; Taja, M R; Vallerga, M B

    2003-01-01

    Background and purpose: Individual radiosensitivity is an inherent characteristic, associated with an increased reaction to ionizing radiation on the human body. Biological endpoints such as clonogenic survival, chromosome aberration formation and repair capacity of radiation-induced damage have been applied to evaluate individual radiosensitivity in vitro. 5%-7% of cancer patients develop adverse side effects to radiation therapy in normal tissues within the treatment field, which are referred as 'clinical radiation reactions' and include acute effects, late effects and cancer induction. It has been hypothesized that the occurrence and severity of these reactions are mainly influenced by genetic susceptibility to radiation. Additionally, the nature of the genetic disorders associated with hypersensitivity to radiotherapy suggests that DNA repair mechanisms are involved. Consequently, the characterization of DNA repair in lymphocytes through cytokinesis blocked micronucleus (MN) and alkaline single-cell micro...

  4. Treatment and follow-up of patients suffering from the cutaneous radiation syndrome

    International Nuclear Information System (INIS)

    Peter, R.U.; Gottloeber, P.; Heckmann, M.; Braun-FaIco, O.; Plewig, G.

    1996-01-01

    keratoses and inflammation were stopped. The most remarkable result was the reduction of radiation fibrosis: sonographically determined skin thickness partly returned to normal levels after treatment of months with Interferon gamma 50μg s.c. 3 week. Based upon therapeutic experience with patients undergoing radiation therapy, symptomatic relief of pruritus can be achieved by administration of nonsedating antihistamines, such as Loratadine. In the chronic stage of the CRS after radiation therapy, where interferon gamma cannot be used, reduction of radiation-induced cutaneous fibrosis can be reached by a combination of Vitamin E and pentoxyfiline even two decades after radiation exposure. It is concluded that under accidental partial body exposure with high doses of beta and gamma irradiation, the predominant involvement of the skin, described as the cutaneous radiation syndrome, may become the characteristic trait of this increasingly probable accident pattern. Through treatment is complex and requires dermatological and radiobiological expertise, it results in marked clinical improvement of the affected patients. These results demonstrate that considerable progress has been achieved during the last years regarding diagnosis and treatment of cutaneous radiation sequelae. Surgery has to be considered the treatment of choice for radiation carcinoma, but is no longer the only available therapeutic option. However, systematic controlled clinical trials are still missing for these options

  5. Dosimetric methodology for extremities of individuals occupationally exposed to beta radiation using the optically stimulated luminescence technique

    International Nuclear Information System (INIS)

    Pinto, Teresa Cristina Nathan Outeiro

    2010-01-01

    A dosimetric methodology was established for the determination of extremity doses of individuals occupationally exposed to beta radiation, using Al 2 O 3 :C detectors and the optically stimulated luminescence (OSL) reader system microStar, Landauer. The main parts of the work were: characterization of the dosimetric material Al 2 O 3 :C using the OSL technique; establishment of the dose evaluation methodology; dose rate determination of beta radiation sources; application of the established method in a practical test with individuals occupationally exposed to beta radiation during a calibration simulation of clinical applicators; validation of the methodology by the comparison between the dose results of the practical test using the OSL and the thermoluminescence (TL) techniques. The results show that both the OSL Al-2O 3 :C detectors and the technique may be utilized for individual monitoring of extremities and beta radiation. (author)

  6. Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.

    Directory of Open Access Journals (Sweden)

    Chantal Sellier

    Full Text Available Deletion of the 1.5-3 Mb region of chromosome 22 at locus 11.2 gives rise to the chromosome 22q11.2 deletion syndrome (22q11DS, also known as DiGeorge and Velocardiofacial Syndromes. It is the most common micro-deletion disorder in humans and one of the most common multiple malformation syndromes. The syndrome is characterized by a broad phenotype, whose characterization has expanded considerably within the last decade and includes many associated findings such as craniofacial anomalies (40%, conotruncal defects of the heart (CHD; 70-80%, hypocalcemia (20-60%, and a range of neurocognitive anomalies with high risk of schizophrenia, all with a broad phenotypic variability. These phenotypic features are believed to be the result of a change in the copy number or dosage of the genes located in the deleted region. Despite this relatively clear genetic etiology, very little is known about which genes modulate phenotypic variations in humans or if they are due to combinatorial effects of reduced dosage of multiple genes acting in concert. Here, we report on decreased expression levels of genes within the deletion region of chromosome 22, including DGCR8, in peripheral leukocytes derived from individuals with 22q11DS compared to healthy controls. Furthermore, we found dysregulated miRNA expression in individuals with 22q11DS, including miR-150, miR-194 and miR-185. We postulate this to be related to DGCR8 haploinsufficiency as DGCR8 regulates miRNA biogenesis. Importantly we demonstrate that the level of some miRNAs correlates with brain measures, CHD and thyroid abnormalities, suggesting that the dysregulated miRNAs may contribute to these phenotypes and/or represent relevant blood biomarkers of the disease in individuals with 22q11DS.

  7. Medical Management of Acute Radiation Syndromes : Comparison of Antiradiation Vaccine and Antioxidants radioprotection potency.

    Science.gov (United States)

    Maliev, Slava; Popov, Dmitri; Lisenkov, Nikolai

    Introduction: This experimental study of biological effects of the Antiradiation Vaccine and Antioxidants which were used for prophylaxis and treatment of the Acute Radiation Syndromes caused by high doses of the low-LET radiation. An important role of Reactive Oxyden Species (Singlet oxygen, hydroxyl radicals, superoxide anions and bio-radicals)in development of the Acute Radiation Syndromes could be defined as a "central dogma" of radiobiology. Oxida-tion and damages of lipids, proteins, DNA, and RNA are playing active role in development of postradiation apoptosis. However, the therapeutic role of antioxidants in modification of a postradiation injury caused by high doses of radiation remains controversial.Previous stud-ies had revealed that antioxidants did not increase a survival rate of mammals with severe forms of the Acute Radiation Syndromes caused by High Doses of the low-LET radiation. The Antiradiation Vaccine(ARV) contains toxoid forms of the Radiation Toxins(RT) from the Specific Radiation Determinants Group (SRD). The RT SRD has toxic and antigenic prop-erties at the same time and stimulates a specific antibody elaboration and humoral response form activated acquired immune system. The blocking antiradiation antibodies induce an im-munologically specific effect and have inhibiting effects on radiation induced neuro-toxicity, vascular-toxicity, gastrointestinal toxcity, hematopoietic toxicity, and radiation induced cytol-ysis of selected groups of cells that are sensitive to radiation. Methods and materials: Scheme of experiments: 1. Irradiated animals with development of Cerebrovascular ARS (Cv-ARS), Cardiovascular ARS (Cr-ARS) Gastrointestinal ARS(GI-ARS), Hematopoietic ARS (H-ARS) -control -were treated with placebo administration. 2. Irradiated animals were treated with antioxidants prophylaxisis and treatment of Cv-ARS, Cr-SRS, GI-ARS, Hp-ARS forms of the ARS. 3. irradiated animals were treated with radioprotection by Antiradiation Vaccine

  8. Dose measurement, its distribution and individual external dose assessments of inhabitants in the high background radiation areas in China

    International Nuclear Information System (INIS)

    Morishima, Hiroshige; Koga, Taeko; Tatsumi, Kusuo; Nakai, Sayaka; Sugahara, Tsutomu; Yuan Yongling; Wei Luxin

    2000-01-01

    As a part of the China-Japan cooperative research on natural radiation epidemiology, we have carried out a dose-assessment study to evaluate the external exposure to natural radiation in the high background radiation areas (HBRA) of Yangjiang in Guangdong province and in the control areas (CA) of Enping prefecture since 1991. Because of the difficulties in measuring the individual doses of all inhabitants directly by personal dosimeters, an indirect method was applied in which the exposed individual doses were estimated from the environmental radiation doses measured by survey meters and the occupancy factors of each hamlet. We analyzed the dose in the hamlets and the variation in the occupancy factors to obtain the parameters of dose estimation on the inhabitants in selected hamlets; Madi and several hamlets of different dose levels in HBRA and Hampizai hamlet in CA. With these parameters, we estimated individual dose rates and compared them with those obtained from direct measurement using dosimeters carried by selected individuals. The results obtained are as follows. The environmental radiation doses are influenced by the natural radioactive nuclide concentrations in building materials, the age of the building and the arrangement of the houses in a hamlet. There existed a fairly large and heterogeneous distribution of indoor and outdoor environmental radiations. The indoor radiation doses were due to exposure from the natural radioactive nuclides in the building materials and were about two times as large as the outdoor radiation doses. The difference between indoor and outdoor doses was not observed in CA. The occupancy factor was influenced by the age of individuals and by the season of the year. The occupancy factor was higher for infants and aged individuals than for other age groups. This lead to higher dose rates of exposure to those age groups. A good correlation was observed between the dose assessed indirectly and that measured directly and the

  9. Dose measurement, its distribution and individual external dose assessments of inhabitants in the high background radiation areas in China

    Energy Technology Data Exchange (ETDEWEB)

    Morishima, Hiroshige; Koga, Taeko [Kinki Univ., Higashi-Osaka, Osaka (Japan). Atomic Energy Research Inst.; Tatsumi, Kusuo; Nakai, Sayaka; Sugahara, Tsutomu; Yuan Yongling; Wei Luxin

    2000-10-01

    As a part of the China-Japan cooperative research on natural radiation epidemiology, we have carried out a dose-assessment study to evaluate the external exposure to natural radiation in the high background radiation areas (HBRA) of Yangjiang in Guangdong province and in the control areas (CA) of Enping prefecture since 1991. Because of the difficulties in measuring the individual doses of all inhabitants directly by personal dosimeters, an indirect method was applied in which the exposed individual doses were estimated from the environmental radiation doses measured by survey meters and the occupancy factors of each hamlet. We analyzed the dose in the hamlets and the variation in the occupancy factors to obtain the parameters of dose estimation on the inhabitants in selected hamlets; Madi and several hamlets of different dose levels in HBRA and Hampizai hamlet in CA. With these parameters, we estimated individual dose rates and compared them with those obtained from direct measurement using dosimeters carried by selected individuals. The results obtained are as follows. The environmental radiation doses are influenced by the natural radioactive nuclide concentrations in building materials, the age of the building and the arrangement of the houses in a hamlet. There existed a fairly large and heterogeneous distribution of indoor and outdoor environmental radiations. The indoor radiation doses were due to exposure from the natural radioactive nuclides in the building materials and were about two times as large as the outdoor radiation doses. The difference between indoor and outdoor doses was not observed in CA. The occupancy factor was influenced by the age of individuals and by the season of the year. The occupancy factor was higher for infants and aged individuals than for other age groups. This lead to higher dose rates of exposure to those age groups. A good correlation was observed between the dose assessed indirectly and that measured directly and the

  10. Possible individual variation in susceptibility to radiation-induced genetic changes

    International Nuclear Information System (INIS)

    Gentner, N.E.; Walker, J.A.

    1990-01-01

    Several studies have shown variation between individuals in radiosensitivity. A person could have a high level of cytogenetic indicator because of high exposure or high susceptibility. To relate spontaneous cytogenetic end-points to dose it is advisable to have a measure of both the spontaneous level and of induced susceptibility. These end points need to be compared in irradiated persons who have developed cancer versus those who have not, as a guide to what end points are appropriate for susceptibility to radiogenic cancer. The use of inbred rodent strains may not be appropriate to derive specific locus mutation data relevant to the human situation, in which large differences in susceptibility appear to exist. Variability in response because of differential DNA repair capacity should be kept in mind when evaluating existing human data. For accident situations, using acute exposures for testing susceptibility may be appropriate, but to be relevant to low dose, low dose rate exposures, more use of protracted dose delivery in testing is recommended. There is a need for international collaborative study where these different tests are done on the same donors at the same time. It might now be prudent for radiation protection to take into account the occurrence of critical groups in the population on the basis of their increased radiation sensitivity. (12 refs., 3 figs.)

  11. Modelling the propagation of effects of chronic exposure to ionising radiation from individuals to populations

    Energy Technology Data Exchange (ETDEWEB)

    Alonzo, F. [Laboratory of Environmental Modelling, DEI/SECRE/LME, Institute of Radioprotection and Nuclear Safety (IRSN), Cadarache, Building 159, BP3, 13115 St-Paul-lez-Durance Cedex (France); Laboratory of Radioecology and Ecotoxicology, DEI/SECRE/LRE, Institute of Radioprotection and Nuclear Safety (IRSN), Cadarache Building 186, BP3, 13115 St-Paul-lez-Durance Cedex (France)], E-mail: frederic.alonzo@irsn.fr; Hertel-Aas, T. [Department of Plant and Environmental Sciences, P.O. Box 5003, Norwegian University of Life Sciences, 1432 Aas (Norway); Gilek, M. [School of Life Sciences, Soedertoern University College, 14189 Huddinge (Sweden); Gilbin, R. [Laboratory of Radioecology and Ecotoxicology, DEI/SECRE/LRE, Institute of Radioprotection and Nuclear Safety (IRSN), Cadarache Building 186, BP3, 13115 St-Paul-lez-Durance Cedex (France); Oughton, D.H. [Department of Plant and Environmental Sciences, P.O. Box 5003, Norwegian University of Life Sciences, 1432 Aas (Norway); Garnier-Laplace, J. [Laboratory of Radioecology and Ecotoxicology, DEI/SECRE/LRE, Institute of Radioprotection and Nuclear Safety (IRSN), Cadarache Building 186, BP3, 13115 St-Paul-lez-Durance Cedex (France)

    2008-09-15

    This study evaluated the potential effect of ionising radiation on population growth using simple population models and parameter values derived from chronic exposure experiments in two invertebrate species with contrasting life-history strategies. In the earthworm Eisenia fetida, models predicted increasing delay in population growth with increasing gamma dose rate (up to 0.6 generation times at 11 mGy h{sup -1}). Population extinction was predicted at 43 mGy h{sup -1}. In the microcrustacean Daphnia magna, models predicted increasing delay in population growth with increasing alpha dose rate (up to 0.8 generation times at 15.0 mGy h{sup -1}), only after two successive generations were exposed. The study examined population effects of changes in different individual endpoints (including survival, number of offspring produced and time to first reproduction). Models showed that the two species did not respond equally to equivalent levels of change, the fast growing daphnids being more susceptible to reduction in fecundity or delay in reproduction than the slow growing earthworms. This suggested that susceptibility of a population to ionising radiation cannot be considered independent of the species' life history.

  12. Method of inhibiting the onset of acute radiation syndrome and also inhibiting the onset of septicemia and a composition therefor

    Energy Technology Data Exchange (ETDEWEB)

    Ribi, E E

    1986-01-14

    A method is described for inhibiting the onset of acute radiation syndrome caused by the exposure of warm-blooded animals to a whole body dose of at least 100 rads of x-radiation. Also described is a method for inhibiting the onset of septicemia. The methods comprise administering to a warm-blooded animal an effective amount of a pharmaceutical preparation containing refined detoxified endotoxin in combination with a pharmaceutically acceptable carrier.

  13. The Impact of Rapid Weight Loss on Oxidative Stress Markers and the Expression of the Metabolic Syndrome in Obese Individuals

    Directory of Open Access Journals (Sweden)

    Eva Tumova

    2013-01-01

    Full Text Available Objective. Obesity is linked with a state of increased oxidative stress, which plays an important role in the etiology of atherosclerosis and type 2 diabetes mellitus. The aim of our study was to evaluate the effect of rapid weight loss on oxidative stress markers in obese individuals with metabolic syndrome (MetS. Design and Methods. We measured oxidative stress markers in 40 obese subjects with metabolic syndrome (MetS+, 40 obese subjects without metabolic syndrome (MetS−, and 20 lean controls (LC at baseline and after three months of very low caloric diet. Results. Oxidized low density lipoprotein (ox-LDL levels decreased by 12% in MetS+ subjects, associated with a reduction in total cholesterol (TC, even after adjustment for age and sex. Lipoprotein associated phospholipase A2 (Lp-PLA2 activity decreased by 4.7% in MetS+ subjects, associated with a drop in LDL-cholesterol (LDL-C, TC, and insulin levels. Multivariate logistic regression analysis showed that a model including ox-LDL, LpPLA2 activity, and myeloperoxidase (MPO improved prediction of MetS status among obese individuals compared to each oxidative stress marker alone. Conclusions. Oxidative stress markers were predictive of MetS in obese subjects, suggesting a higher oxidative stress. Rapid weight loss resulted in a decline in oxidative stress markers, especially in MetS+ patients.

  14. The "Mendel syndrome" in science: durability of scientific literature and its effects on bibliometric analysis of individual scientists.

    Science.gov (United States)

    Costas, Rodrigo; van Leeuwen, Thed N; van Raan, Anthony F J

    2011-10-01

    The obsolescence and "durability" of scientific literature have been important elements of debate during many years, especially regarding the proper calculation of bibliometric indicators. The effects of "delayed recognition" on impact indicators have importance and are of interest not only to bibliometricians but also among research managers and scientists themselves. It has been suggested that the "Mendel syndrome" is a potential drawback when assessing individual researchers through impact measures. If publications from particular researchers need more time than "normal" to be properly acknowledged by their colleagues, the impact of these researchers may be underestimated with common citation windows. In this paper, we answer the question whether the bibliometric indicators for scientists can be significantly affected by the Mendel syndrome. Applying a methodology developed previously for the classification of papers according to their durability (Costas et al., J Am Soc Inf Sci Technol 61(8):1564-1581, 2010a; J Am Soc Inf Sci Technol 61(2):329-339, 2010b), the scientific production of 1,064 researchers working at the Spanish Council for Scientific Research (CSIC) in three different research areas has been analyzed. Cases of potential "Mendel syndrome" are rarely found among researchers and these cases do not significantly outperform the impact of researchers with a standard pattern of reception in their citations. The analysis of durability could be included as a parameter for the consideration of the citation windows used in the bibliometric analysis of individuals.

  15. Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature

    NARCIS (Netherlands)

    Trier, D.C. van; Feenstra, I.; Bot, P.; Leeuw, N. de; Draaisma, J.M.T.

    2013-01-01

    Individuals with the 18q deletion syndrome are presented with various clinical characteristics, including cardiac anomalies in 24-36% of the reported cases. Nonetheless, genotype-phenotype correlations for cardiac anomalies in the 18q deletion syndrome have rarely been reported. We report on two

  16. The Perspective of Young Adult Siblings of Individuals with Asperger Syndrome and High Functioning Autism: An Exploration of Grief and Implications for Developmental Transition

    Science.gov (United States)

    Allgood, Nicole R.

    2010-01-01

    Asperger syndrome (AS) and high functioning autism are complex developmental disabilities that have a significant impact on the individual and his/her family. Asperger syndrome is characterized by challenges with understanding non-verbal communication, difficulties with social relationships, and restricted interests. Having a brother or sister…

  17. Radiation therapy for Kaposi's sarcoma associated with acquired immunodeficiency syndrome. Tokyo Metropolitan Komagome Hospital experience

    International Nuclear Information System (INIS)

    Ebara, Takeshi; Karasawa, Katsuyuki; Maebayashi, Katsuya; Kurosaki, Hiromasa; Ishikawa, Hitoshi; Kaizu, Toshihide; Tanaka, Yoshiaki; Akagi, Kumiko; Masuda, Gota

    2000-01-01

    Kaposi's sarcoma is frequently found in association with acquired immunodeficiency syndrome (AIDS). We report on radiotherapy for patients with AIDS-related Kaposi's sarcoma at Tokyo Metropolitan Komagome Hospital. Between April 1991 and May 1997, radiotherapy was given to 11 lesions in eight men with AIDS-related Kaposi's sarcoma to relieve their symptoms. The lesions involved the head and neck region, the legs, and the gastrointestinal tract. Radiotherapy was carried out with 4-MV photon through parallel opposed field or high energy electrons. Total doses ranged from 20 to 38 Gy, with a median of 30 Gy, delivered in 2- to 3-Gy fractions. Four patients were given other treatments prior to the radiotherapy. Acute reaction was evaluated according to the modified acute radiation morbidity scoring criteria of the Radiation Therapy Oncology Group (RTOG). Radiotherapy had relieved the symptoms in all patients at completion of this therapy. Lesions that involved the hard palate and vocal cords had completely disappeared. The lesions that received radiotherapy were controlled without symptoms until the patients died. Patients who had the head and neck region treated exhibited severe acute mucosal reaction (at a dose of 30 Gy, there was grade 2 morbidity by modified RTOG criteria, in two patients, and grade 3 in three patients) although the radiation therapy was completed for these patients. Radiotherapy promises a favorable outcome for symptom relief in AIDS-related Kaposi's sarcoma. (author)

  18. Visual Processing of Faces in Individuals with Fragile X Syndrome: An Eye Tracking Study

    Science.gov (United States)

    Farzin, Faraz; Rivera, Susan M.; Hessl, David

    2009-01-01

    Gaze avoidance is a hallmark behavioral feature of fragile X syndrome (FXS), but little is known about whether abnormalities in the visual processing of faces, including disrupted autonomic reactivity, may underlie this behavior. Eye tracking was used to record fixations and pupil diameter while adolescents and young adults with FXS and sex- and…

  19. Treatment of Covert Food Stealing in an Individual with Prader-Willi Syndrome.

    Science.gov (United States)

    Maglieri, Kristen, A.; DeLeon, Iser G.; Rodriguez-Catter, Vanessa; Sevin, Bart M.

    2000-01-01

    A study found verbal reprimands, delivered contingent upon eating prohibited foods, were sufficient to decease the food stealing of a girl (age 14) with Prader-Willi syndrome. Warning stimuli were then successfully used to help her discriminate between permitted/prohibited foods during sessions in which food stealing was not directly observed.…

  20. Perceiving Facial and Vocal Expressions of Emotion in Individuals with Williams Syndrome

    Science.gov (United States)

    Plesa-Skwerer, Daniela; Faja, Susan; Schofield, Casey; Verbalis, Alyssa; Tager-Flusberg, Helen

    2006-01-01

    People with Williams syndrome are extremely sociable, empathic, and expressive in communication. Some researchers suggest they may be especially sensitive to perceiving emotional expressions. We administered the Faces and Paralanguage subtests of the Diagnostic Analysis of Nonverbal Accuracy Scale (DANVA2), a standardized measure of emotion…

  1. Caregiver Survey of Pharmacotherapy to Treat Attention Deficit/Hyperactivity Disorder in Individuals with Williams Syndrome

    Science.gov (United States)

    Martens, Marilee A.; Seyfer, Daisha L.; Andridge, Rebecca R.; Foster, Jessica E. A.; McClure, Kelsey E.; Coury, Daniel L.

    2013-01-01

    Williams syndrome (WS) is a genetic condition characterized by a unique neurocognitive and behavioral profile, including increased incidence of attention deficit/hyperactivity disorder (ADHD). The purpose of the present study was to examine the perceived helpfulness and side effects of medications used to treat ADHD (methylphenidate class,…

  2. Educational Priorities for Individuals with Angelman Syndrome: A Study of Parents' Perspectives

    NARCIS (Netherlands)

    Radstaake, M.; Didden, H.C.M.; Peters-Scheffer, N.C.; Sigafoos, J.; Korzilius, H.P.L.M.; Curfs, L.M.G.

    2014-01-01

    The priorities of parents of children with intellectual disability should be considered when selecting educational goals. To this end, 77 parents of children with Angelman syndrome (AS) completed a questionnaire that involved rating their child's abilities and prioritizing educational goals across a

  3. The phenotypic spectrum of Schaaf-Yang syndrome : 18 new affected individuals from 14 families

    NARCIS (Netherlands)

    Fountain, Michael D.; Aten, Emmelien; Cho, Megan T.; Juusola, Jane; Walkiewicz, Magdalena A.; Ray, Joseph W.; Xia, Fan; Yang, Yaping; Graham, Brett H.; Bacino, Carlos A.; Potocki, Lorraine; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Mancias, Pedro; Northrup, Hope; Kukolich, Mary K.; Weiss, Marjan M.; van Ravenswaaij-Arts, Conny M. A.; Mathijssen, Inge B.; Levesque, Sebastien; Meeks, Naomi; Rosenfeld, Jill A.; Lemke, Danielle; Hamosh, Ada; Lewis, Suzanne K.; Race, Simone; Stewart, Laura L.; Hay, Beverly; Lewis, Andrea M.; Guerreiro, Rita L.; Bras, Jose T.; Martins, Marcia P.; Derksen-Lubsen, Gerarda; Peeters, Els; Stumpel, Connie; Stegmann, Sander; Bok, Levinus A.; Santen, Gijs W. E.; Schaaf, Christian P.

    Purpose: Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11-13, have recently been reported to cause Schaaf -Yang syndrome, a Prader-Willi-like disease that manifests as developmental delay/intellectual

  4. Tourette Syndrome: A Case for Establishing the Individual Needs of Children at Risk.

    Science.gov (United States)

    Wilson, Jeni; Shrimpton, Bradley

    Tourette Syndrome (TS) is a neurological disorder characterized by multiple, involuntary, and repetitive motor and vocal tics. This paper addresses the educational needs of students with TS noting that, without proper intervention and appropriate learning experiences, these children often experience personal distress, reduced self-esteem, social…

  5. The relationship of sick leave benefits, employment patterns, and individual characteristics to radiation therapy-related fatigue.

    Science.gov (United States)

    Poirier, Patricia

    2006-05-03

    To examine the relationship among sick leave benefits, employment patterns, individual characteristics, and fatigue in patients receiving radiation therapy. Prospective, longitudinal design. A community hospital radiation oncology department. 77 patients receiving radiation therapy to the breast, chest, head and neck, pelvis, or prostate. All were employed at the time of diagnosis. The Piper Integrated Fatigue Model guided the study. The Revised Piper Fatigue Scale (PFS), Brief Fatigue Inventory, and a single-item scale were used to measure five dimensions of subjective fatigue. Sick leave, employment, individual characteristics, and fatigue were measured at baseline, weekly during treatment, and at one month post-treatment. Employment patterns, availability of sick leave benefits, and fatigue. Mean total fatigue scores on the PFS ranged from 0-4.77 at baseline (mean = 0.46, SD = 0.93), 0-8.77 at the completion of treatment (mean = 2.84, SD = 2.40), and 0-4.82 at one month post-treatment (mean = 0.77, SD = 1.20). Side effects, education, living situation, age, treatment site, and work were associated with fatigue along the trajectory of radiation therapy. Study participants who were working at the end of radiation had lower fatigue scores than those who were not. Availability of sick leave benefits was associated with employment patterns during treatment. Work may have benefits during radiation therapy but may be affected by radiation therapy-related fatigue. Management of treatment side effects, including fatigue, may help patients remain in the workforce during radiation.

  6. The biological response of plucked human hair to low-dose radiation: a measure of individual radiosensitivity and a technique for biological dosimetry

    International Nuclear Information System (INIS)

    Swain, D.

    1997-01-01

    It is often assumed that the effects of radiation are linear with dose and that high dose effects can be extrapolated to low dose levels. However, there are a variety of mechanisms which can alter the response at low doses. The most important of these relate to induced sensitivity or induced repair mechanisms. It is therefore important that this area is studied in more depth by looking at the molecular effects and damage to cells at low doses. It is well known that there are certain rare genetic syndromes which predispose individuals to cancer, e.g. ataxia telangiectasia. It is also probable that there is a large range of sensitivity in the natural variation of individuals to the risk of radiation-induced cancer. It is proposed that radiosensitivity is studied using stimulated lymphocytes from whole blood and the technique extended to look at the effects in cell cultures established from human hair. Radiation treatment of cell cultures established from plucked human hair has been previously advocated as a non-invasive technique for non-uniform biological dosimetry and it is proposed that these techniques are adapted to the use of hair to estimate individual radiosensitivity. The aim is to establish and optimize these techniques for culturing keratinocytes from plucked human hair follicles with a view to study biological markers for the subsequent assessment of radiosensitivity. Preliminary results are promising and suggest that the technique for culturing keratinocytes from hair presents a feasible approach. Results from this primary cell culture technique and results from the comparison of the micronuclei data obtained from the cell cultures and stimulated lymphocytes will be presented. (author)

  7. Home-Based Hypnotherapy Self-exercises vs Individual Hypnotherapy With a Therapist for Treatment of Pediatric Irritable Bowel Syndrome, Functional Abdominal Pain, or Functional Abdominal Pain Syndrome: A Randomized Clinical Trial

    NARCIS (Netherlands)

    Rutten, Juliette M. T. M.; Vlieger, Arine M.; Frankenhuis, Carla; George, Elvira K.; Groeneweg, Michael; Norbruis, Obbe F.; Tjon A ten, Walther; van Wering, Herbert M.; Dijkgraaf, Marcel G. W.; Merkus, Maruschka P.; Benninga, Marc A.

    2017-01-01

    Individual gut-directed hypnotherapy (HT) is effective in pediatric irritable bowel syndrome (IBS) and functional abdominal pain or functional abdominal pain syndrome (FAP[S]). It is, however, unavailable to many children. To compare the effectiveness of HT by means of home-based self-exercises

  8. Radiations

    International Nuclear Information System (INIS)

    Pujol Mora, J.

    1999-01-01

    The exposition to ionizing radiations is a constant fact in the life of the human being and its utilization as diagnostic and therapeutic method is generalized. However, it is notorious how as years go on, the fear to the ionizing radiation seems to persist too, and this fact is not limited to the common individual, but to the technical personnel and professional personnel that labors with them same. (S. Grainger) [es

  9. Dose measurement, its distribution and individual external dose assessments of inhabitants on high background radiation area in China

    Energy Technology Data Exchange (ETDEWEB)

    Koga, Taeko; Morishima, Hiroshige [Kinki Univ., Atomic Energy Research Institute, Osaka (Japan); Tatsumi, Kusuo [Kinki Univ., Life Science Research Institute, Osaka (Japan); Nakai, Sayaka; Sugahara, Tsutomu [Health Research Foundation, Kyoto (Japan); Yuan Yongling [Labor Hygiene Institute of Hunan Prov. (China); Wei Luxin [Laboratory of Industorial Hygiene, Ministry of Health (China)

    2001-01-01

    As a part of the China-Japan cooperative research on the natural radiation epidemiology, we have carried out a dose-assessment study to evaluate the external to natural radiation in the high background radiation area (HBRA) of Yangjiang in Guangdong province and in the control area (CA) of Enping prefecture since 1991. Because of the difficulties in measuring the individual doses of all inhabitants directly by the personal dosimeters, an indirect method was applied to estimate the exposed dose rates from the environmental radiation dose rates measured by survey meters and the occupancy factors of each hamlet. An individual radiation dose roughly correlates with the environmental radiation dose and the life style of the inhabitant. We have analyzed the environmental radiation doses in the hamlets and the variation of the occupancy factors to obtain the parameters of dose estimation on the inhabitants in selected hamlets; Madi and the several hamlets of the different level doses in HBRA and Hampizai hamlet in CA. With these parameters, we made estimations of individual dose rates and compared them with those obtained from the direct measurement using dosimeters carried by selected individuals. The results obtained are as follows: (1) The environmental radiation dose rates are influenced by the natural radioactive nuclide concentrations in building materials, the age of the building and the arrangement of the houses in a hamlet. There existed a fairly large and heterogeneous distribution of indoor and outdoor environmental radiation. The indoor radiation dose rates were due to the exposure from the natural radioactive nuclides in the building materials and they were about twice higher than the outdoor radiation dose rates. This difference was not observed in CA. (2) The occupancy factor was affected by the age of individuals and the seasons of a year. Indoor occupancy factors were higher for infants and aged individuals than for other age groups. This lead to higher

  10. Dose measurement, its distribution and individual external dose assessments of inhabitants on high background radiation area in China

    International Nuclear Information System (INIS)

    Koga, Taeko; Morishima, Hiroshige; Tatsumi, Kusuo; Nakai, Sayaka; Sugahara, Tsutomu; Yuan Yongling; Wei Luxin

    2001-01-01

    As a part of the China-Japan cooperative research on the natural radiation epidemiology, we have carried out a dose-assessment study to evaluate the external to natural radiation in the high background radiation area (HBRA) of Yangjiang in Guangdong province and in the control area (CA) of Enping prefecture since 1991. Because of the difficulties in measuring the individual doses of all inhabitants directly by the personal dosimeters, an indirect method was applied to estimate the exposed dose rates from the environmental radiation dose rates measured by survey meters and the occupancy factors of each hamlet. An individual radiation dose roughly correlates with the environmental radiation dose and the life style of the inhabitant. We have analyzed the environmental radiation doses in the hamlets and the variation of the occupancy factors to obtain the parameters of dose estimation on the inhabitants in selected hamlets; Madi and the several hamlets of the different level doses in HBRA and Hampizai hamlet in CA. With these parameters, we made estimations of individual dose rates and compared them with those obtained from the direct measurement using dosimeters carried by selected individuals. The results obtained are as follows: 1) The environmental radiation dose rates are influenced by the natural radioactive nuclide concentrations in building materials, the age of the building and the arrangement of the houses in a hamlet. There existed a fairly large and heterogeneous distribution of indoor and outdoor environmental radiation. The indoor radiation dose rates were due to the exposure from the natural radioactive nuclides in the building materials and they were about twice higher than the outdoor radiation dose rates. This difference was not observed in CA. 2) The occupancy factor was affected by the age of individuals and the seasons of a year. Indoor occupancy factors were higher for infants and aged individuals than for other age groups. This lead to higher

  11. Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome

    DEFF Research Database (Denmark)

    Starnawska, A; Hansen, C S; Sparsø, T

    2017-01-01

    Individuals with 22q11.2 deletion syndrome (DS) have an increased risk of comorbid mental disorders including schizophrenia, attention deficit hyperactivity disorder, depression, as well as intellectual disability. Although most 22q11.2 deletion carriers have the long 3-Mb form of the hemizygous...... with mental disorder later in life. DNA methylation was measured genome-wide from neonatal dried blood spots in a cohort of 164 individuals with 22q11.2DS, including 48 individuals diagnosed with a psychiatric disorder. Among several CpG sites with P-value...-98), in NOSIP (P-value=5.12 × 10-8) with disorders of psychological development (F80-89) and in SEMA4B (P-value=4.02 × 10-7) with schizophrenia spectrum disorders (F20-29). In conclusion, our study suggests an association of DNA methylation differences at birth with development of mental disorder later in life...

  12. Acute radiation syndrome (ARS – treatment of the reduced host defense

    Directory of Open Access Journals (Sweden)

    Heslet L

    2012-01-01

    Full Text Available Lars Heslet1, Christiane Bay2, Steen Nepper-Christensen31Serendex ApS, Gentofte; 2University of Copenhagen, Medical Faculty, Copenhagen; 3Department of Head and Neck Surgery, Otorhinolaryngology, Køge University Hospital, Køge, DenmarkBackground: The current radiation threat from the Fukushima power plant accident has prompted rethinking of the contingency plan for prophylaxis and treatment of the acute radiation syndrome (ARS. The well-documented effect of the growth factors (granulocyte colony-stimulating factor [G-CSF] and granulocyte-macrophage colony-stimulating factor [GM-CSF] in acute radiation injury has become standard treatment for ARS in the United States, based on the fact that growth factors increase number and functions of both macrophages and granulocytes.Methods: Review of the current literature.Results: The lungs have their own host defense system, based on alveolar macrophages. After radiation exposure to the lungs, resting macrophages can no longer be transformed, not even during systemic administration of growth factors because G-CSF/GM-CSF does not penetrate the alveoli. Under normal circumstances, locally-produced GM-CSF receptors transform resting macrophages into fully immunocompetent dendritic cells in the sealed-off pulmonary compartment. However, GM-CSF is not expressed in radiation injured tissue due to defervescence of the macrophages. In order to maintain the macrophage’s important role in host defense after radiation exposure, it is hypothesized that it is necessary to administer the drug exogenously in order to uphold the barrier against exogenous and endogenous infections and possibly prevent the potentially lethal systemic infection, which is the main cause of death in ARS.Recommendation: Preemptive treatment should be initiated after suspected exposure of a radiation dose of at least ~2 Gy by prompt dosing of 250–400 µg GM-CSF/m2 or 5 µg/kg G-CSF administered systemically and concomitant inhalation of

  13. Epidemiological studies on disturbances of human fetal development in areas with various doses of natural background radiation. I. Relationship between incidences of Down's syndrome or visible malformation and gonad dose equivalent rate of natural background radiation

    International Nuclear Information System (INIS)

    Ujeno, Y.

    1985-01-01

    The relationship between environmental radiation to the gonads and incidences of Down's syndrome and visible malformation was analyzed using Kendall's rank correlation method. The subjects, studied during a 3-yr period (1979-1981), were inhabitants of 46 prefectures in Japan that had various dose rates of natural background ionizing radiation. Results showed that the natural background very low-dose radiation rate was not a predominant factor responsible for inducing Down's syndrome or other visible malformations

  14. Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome

    International Nuclear Information System (INIS)

    Otsuka, F.; Tarone, R.E.; Cayeux, S.; Robbins, J.H.

    1984-01-01

    Cockayne syndrome (CS) is a rare autosomal recessive disease characterized by acute sun sensitivity, cachectic dwarfism, and neurologic and skeletal abnormalities. Cultured skin fibroblasts from patients with this disease are known to be hypersensitive to the lethal effects of 254-nm UV radiation. The authors have studied the sensitivity of 254-nm UV radiation of lymphoblastoid lines derived from 3 typical CS patients, 1 atypical CS patient who had a very late age of onset of clinical manifestations, 2 patients who had both xeroderma pigmentosum (XP) and typical CS, and 3 heterozygous parents of these patients. Post-UV survival was determined by the trypan-blue dye-exclusion method. The lymphoblastoid lines from the 3 typical CS patients, the atypical CS patient, and the 2 patients with both CS and XP had decreased post-UV viability in comparison with lines from normal donors. Lines from the heterozygous parents had normal post-UV viability. The post-UV viability of the typical CS lines was similar to that of a XP complementation group C line. The relative post-UV viability of lymphoblastoid lines from the typical CS patients was similar to the relative post-UV survival of their fibroblast lines. The lymphoblastoid line from the atypical CS patient had a post-UV viability similar to that of the typical CS patients. Thus, the relative hypersensitivity of CS patients cells in vitro does not reflect the severity or age of onset of the patients clinical manifestations. The lymphoblastoid lines from the 2 patients who had both CS and XP were significantly more sensitive to the UV radiation than those from patients with only CS. Our studies demonstrate that lymphoblastoid lines from patients with CS are appropriate and useful cell lines for the study of the inherited hypersensitivity to UV radiation

  15. γ-Tocotrienol as a Promising Countermeasure for Acute Radiation Syndrome: Current Status

    Directory of Open Access Journals (Sweden)

    Vijay K. Singh

    2016-05-01

    Full Text Available The hazard of ionizing radiation exposure due to nuclear accidents or terrorist attacks is ever increasing. Despite decades of research, still, there is a shortage of non-toxic, safe and effective medical countermeasures for radiological and nuclear emergency. To date, the U.S. Food and Drug Administration (U.S. FDA has approved only two growth factors, Neupogen (granulocyte colony-stimulating factor (G-CSF, filgrastim and Neulasta (PEGylated G-CSF, pegfilgrastim for the treatment of hematopoietic acute radiation syndrome (H-ARS following the Animal Efficacy Rule. Promising radioprotective efficacy results of γ-tocotrienol (GT3; a member of the vitamin E family in the mouse model encouraged its further evaluation in the nonhuman primate (NHP model. These studies demonstrated that GT3 significantly aided the recovery of radiation-induced neutropenia and thrombocytopenia compared to the vehicle controls; these results particularly significant after exposure to 5.8 or 6.5 Gray (Gy whole body γ-irradiation. The stimulatory effect of GT3 on neutrophils and thrombocytes (platelets was directly and positively correlated with dose; a 75 mg/kg dose was more effective compared to 37.5 mg/kg. GT3 was also effective against 6.5 Gy whole body γ-irradiation for improving neutrophils and thrombocytes. Moreover, a single administration of GT3 without any supportive care was equivalent, in terms of improving hematopoietic recovery, to multiple doses of Neupogen and two doses of Neulasta with full supportive care (including blood products in the NHP model. GT3 may serve as an ultimate radioprotector for use in humans, particularly for military personnel and first responders. In brief, GT3 is a promising radiation countermeasure that ought to be further developed for U.S. FDA approval for the ARS indication.

  16. Implication of new CEC recommendations for individual monitoring for external radiation doses to the skin and the extremities

    International Nuclear Information System (INIS)

    Christensen, P.; Julius, H.W.; Marshall, T.O.

    1991-01-01

    A drafting group consisting of the above authors has assisted the CEC in revising the CEC document Technical Recommendations for Monitoring the Exposure to Individuals to External Radiation, EUR 5287, published in 1975. The paper highlights sections of the revised version relating particularly to irradiation of the skin and the extremities and focusses on problems connected to exposure to weakly penetrating radiations. Concepts of individual monitoring for external radiation exposures to the skin of the whole body and to the extremities are discussed and guidance is given as regards dose quantities and dosemeter calibration procedures. A method of quantifying the overall accuracy of the dose measurements as a result of the various uncertainty components connected with the dosimetry system is suggested and requirements on the accuracy of the dose measurements complying with the ICRP requirements on overall accuracy for individual monitoring are specified. Moreover, implications of the accuracy requirements for the design and type testing of the dosemeter are discussed. (author)

  17. The Developmental Trajectory of Self-Injurious Behaviours in Individuals with Prader Willi Syndrome, Autism Spectrum Disorder and Intellectual Disability

    Directory of Open Access Journals (Sweden)

    Lauren J. Rice

    2016-02-01

    Full Text Available In the present study we examined the nature and developmental trajectory of self-injurious behaviour in Prader Willi syndrome (PWS and autism spectrum disorder (ASD. The development of interventions is greatly aided by understanding gene to behaviour pathways, and this requires an accurate description of the behaviour phenotype, that is, which types and natural history of self-injurious behaviour are more common in PWS and ASD and which are shared with other forms of developmental disability. Self-injury displayed by individuals with PWS and individuals with ASD was compared with that reported in a group of individuals with intellectual disability due to mixed aetiology (ID group. Three self-injurious behaviours (head banging, skin-picking and hitting and/or biting self were measured on five occasions over 18 years using the Developmental Behaviour Checklist (DBC a well-validated caregiver report measure. Rates of skin picking were higher in individuals with PWS and hitting and/or biting self was higher in individuals with ASD compared to the ID group. Rates of head banging were similar across the three groups. Over time, skin-picking and head banging increased with age for individuals with ASD and hitting and/or biting self increased for the PWS group. In the PWS and mixed ID groups head banging decreased with age. These findings suggest that the typology and developmental trajectories of self-injurious behaviours differ between those with PWS and ASD.

  18. Sentinel lymph node imaging guided IMRT for prostate cancer: Individualized pelvic radiation therapy versus RTOG guidelines

    Directory of Open Access Journals (Sweden)

    Chien P. Chen, MD, PhD

    2016-01-01

    Conclusions: SLN-guided pelvic radiation therapy can be used to either treat the most critical nodes only or as an addition to RTOG guided pelvic radiation therapy to ensure that the most important nodes are included.

  19. Individualized Selection of Beam Angles and Treatment Isocenter in Tangential Breast Intensity Modulated Radiation Therapy

    Energy Technology Data Exchange (ETDEWEB)

    Penninkhof, Joan, E-mail: j.penninkhof@erasmusmc.nl [Department of Radiation Oncology, Erasmus M.C. Cancer Institute, Rotterdam (Netherlands); Spadola, Sara [Department of Radiation Oncology, Erasmus M.C. Cancer Institute, Rotterdam (Netherlands); Department of Physics and Astronomy, Alma Mater Studiorum, University of Bologna, Bologna (Italy); Breedveld, Sebastiaan; Baaijens, Margreet [Department of Radiation Oncology, Erasmus M.C. Cancer Institute, Rotterdam (Netherlands); Lanconelli, Nico [Department of Physics and Astronomy, Alma Mater Studiorum, University of Bologna, Bologna (Italy); Heijmen, Ben [Department of Radiation Oncology, Erasmus M.C. Cancer Institute, Rotterdam (Netherlands)

    2017-06-01

    Purpose and Objective: Propose a novel method for individualized selection of beam angles and treatment isocenter in tangential breast intensity modulated radiation therapy (IMRT). Methods and Materials: For each patient, beam and isocenter selection starts with the fully automatic generation of a large database of IMRT plans (up to 847 in this study); each of these plans belongs to a unique combination of isocenter position, lateral beam angle, and medial beam angle. The imposed hard planning constraint on patient maximum dose may result in plans with unacceptable target dose delivery. Such plans are excluded from further analyses. Owing to differences in beam setup, database plans differ in mean doses to organs at risk (OARs). These mean doses are used to construct 2-dimensional graphs, showing relationships between: (1) contralateral breast dose and ipsilateral lung dose; and (2) contralateral breast dose and heart dose (analyzed only for left-sided). The graphs can be used for selection of the isocenter and beam angles with the optimal, patient-specific tradeoffs between the mean OAR doses. For 30 previously treated patients (15 left-sided and 15 right-sided tumors), graphs were generated considering only the clinically applied isocenter with 121 tangential beam angle pairs. For 20 of the 30 patients, 6 alternative isocenters were also investigated. Results: Computation time for automatic generation of 121 IMRT plans took on average 30 minutes. The generated graphs demonstrated large variations in tradeoffs between conflicting OAR objectives, depending on beam angles and patient anatomy. For patients with isocenter optimization, 847 IMRT plans were considered. Adding isocenter position optimization next to beam angle optimization had a small impact on the final plan quality. Conclusion: A method is proposed for individualized selection of beam angles in tangential breast IMRT. This may be especially important for patients with cardiac risk factors or an

  20. New ICRU quantities for the environmental and individual monitoring. Standardization of individual dosemeters by using external beams of photon radiation; Nuevas magnitudes ICRU para la vigilancia radiologica ambiental e individual. Calibracion de dosimetros personales usando haces externos de fotones

    Energy Technology Data Exchange (ETDEWEB)

    Brosed, A; Delgado, A; Granados, C E

    1987-07-01

    The quantities introduced by ICRU for the radiological monitoring are commented, specially those implied in individual protection against external photons. A procedure is proposed in order to standardize the individual dosemeters by using the kerma in air references of CIEMAT-JEN. The reference radiation beams are described in connection with ISO standards. Provisional values are selected for the appropriate conversion and correction factors. (Author) 23 refs.

  1. Background radiation and individual dosimetry in the coastal area of Tamil Nadu (India)

    International Nuclear Information System (INIS)

    Matsuda, N.; Brahmanandhan, G. M.; Yoshida, M.; Takamura, N.; Suyama, A.; Koguchi, Y.; Juto, N.; Raj, Y. L.; Winsley, G.; Selvasekarapandian, S.

    2011-01-01

    South coast of India is known as the high-level background radiation area (HBRA) mainly due to beach sands that contain natural radionuclides as components of the mineral monazite. The rich deposit of monazite is unevenly distributed along the coastal belt of Tamil Nadu and Kerala. An HBRA site that laid in 2x7 m along the sea was found in the beach of Chinnavillai, Tamil Nadu, where the maximum ambient dose equivalent reached as high as 162.7 mSv y -1 . From the sands collected at the HBRA spot, the high-purity germanium semi-conductor detector identified six nuclides of thorium series, four nuclides of uranium series and two nuclides belonging to actinium series. The highest radioactivity observed was 43.7 Bq g -1 of Th-228. The individual dose of five inhabitants in Chinnavillai, as measured by the radiophotoluminescence glass dosimetry system, demonstrated the average dose of 7.17 mSv y -1 ranging from 2.79 to 14.17 mSv y -1 . (authors)

  2. Autologous adipocyte derived stem cells favour healing in a minipig model of cutaneous radiation syndrome.

    Directory of Open Access Journals (Sweden)

    Fabien Forcheron

    Full Text Available Cutaneous radiation syndrome (CRS is the delayed consequence of localized skin exposure to high doses of ionizing radiation. Here we examined for the first time in a large animal model the therapeutic potential of autologous adipose tissue-derived stroma cells (ASCs. For experiments, Göttingen minipigs were locally gamma irradiated using a (60Co source at the dose of 50 Gy and grafted (n = 5 or not (n = 8. ASCs were cultured in MEM-alpha with 10% fetal calf serum and basic fibroblast growth factor (2 ng.mL(-1 and post irradiation were intradermally injected on days 25, 46, 67 and finally between days 95 and 115 (50 × 10(6 ASCs each time into the exposed area. All controls exhibited a clinical evolution with final necrosis (day 91. In grafted pigs an ultimate wound healing was observed in four out of five grafted animals (day 130 +/- 28. Immunohistological analysis of cytokeratin expression showed a complete epidermis recovery. Grafted ASCs accumulated at the dermis/subcutis barrier in which they attracted numerous immune cells, and even an increased vasculature in one pig. Globally this study suggests that local injection of ASCs may represent a useful strategy to mitigate CRS.

  3. Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.

    Science.gov (United States)

    Dudding-Byth, Tracy; Baxter, Anne; Holliday, Elizabeth G; Hackett, Anna; O'Donnell, Sheridan; White, Susan M; Attia, John; Brunner, Han; de Vries, Bert; Koolen, David; Kleefstra, Tjitske; Ratwatte, Seshika; Riveros, Carlos; Brain, Steve; Lovell, Brian C

    2017-12-19

    Massively parallel genetic sequencing allows rapid testing of known intellectual disability (ID) genes. However, the discovery of novel syndromic ID genes requires molecular confirmation in at least a second or a cluster of individuals with an overlapping phenotype or similar facial gestalt. Using computer face-matching technology we report an automated approach to matching the faces of non-identical individuals with the same genetic syndrome within a database of 3681 images [1600 images of one of 10 genetic syndrome subgroups together with 2081 control images]. Using the leave-one-out method, two research questions were specified: 1) Using two-dimensional (2D) photographs of individuals with one of 10 genetic syndromes within a database of images, did the technology correctly identify more than expected by chance: i) a top match? ii) at least one match within the top five matches? or iii) at least one in the top 10 with an individual from the same syndrome subgroup? 2) Was there concordance between correct technology-based matches and whether two out of three clinical geneticists would have considered the diagnosis based on the image alone? The computer face-matching technology correctly identifies a top match, at least one correct match in the top five and at least one in the top 10 more than expected by chance (P syndromes except Kabuki syndrome. Although the accuracy of the computer face-matching technology was tested on images of individuals with known syndromic forms of intellectual disability, the results of this pilot study illustrate the potential utility of face-matching technology within deep phenotyping platforms to facilitate the interpretation of DNA sequencing data for individuals who remain undiagnosed despite testing the known developmental disorder genes.

  4. Spiritual well-being in individuals with fibromyalgia syndrome: relationships with symptom pattern variability, uncertainty, and psychosocial adaptation.

    Science.gov (United States)

    Anema, Cheryl; Johnson, Mary; Zeller, Janice M; Fogg, Louis; Zetterlund, Joan

    2009-01-01

    This study examined relationships among symptom pattern variability, uncertainty, spiritual well-being, and psychosocial adaptation in individuals with fibromyalgia syndrome (FMS). A survey design was used with 58 individuals with FMS. The Fibromyalgia Symptom Pattern Questionnaire, Mishel Uncertainty in Illness Scale--Community Form, Spiritual Well-Being Scale, and Psychosocial Adjustment to Illness Scale-Self Report were used to collect data. Positive relationships were found between symptom pattern variability and uncertainty and between uncertainty and poor psychosocial adaptation; spiritual well-being moderated the relationship between uncertainty and psychosocial adaptation. A positive sense of well-being aided adaptation to symptoms and uncertainties of FMS. Spiritual well-being had a greater effect on the relationship between symptom pattern variability and uncertainty than expected.

  5. Emotional experiences predict the conversion of individuals with Attenuated Psychosis Syndrome to psychosis: A six-month follow up study

    Directory of Open Access Journals (Sweden)

    Fa Zhan Chen

    2016-06-01

    Full Text Available The present study explored the conversion rate in individuals with Attenuated Psychosis Syndrome (APS and potential predictor for transition in China. Sixty-three participants were identified as APS were followed up six months later. The results showed that 17% of individuals with APS converted to psychosis. The converters exhibited poorer emotional experience and expression than the non-converters at baseline. A further binary logistic regression analysis showed that emotional experience could predict the transition (Wald = 4.18, p = 0.041, 95% CI = 1.04~6.82. The current study suggested an important role of emotional processing in the prediction of the development of full-blown psychosis.

  6. Impact of alemtuzumab on HIV persistence in an HIV-infected individual on antiretroviral therapy with Sezary syndrome.

    Science.gov (United States)

    Rasmussen, Thomas A; McMahon, James; Chang, J Judy; Symons, Jori; Roche, Michael; Dantanarayana, Ashanti; Okoye, Afam; Hiener, Bonnie; Palmer, Sarah; Lee, Wen Shi; Kent, Stephen J; Van Der Weyden, Carrie; Prince, H Miles; Cameron, Paul U; Lewin, Sharon R

    2017-08-24

    To study the effects of alemtuzumab on HIV persistence in an HIV-infected individual on antiretroviral therapy (ART) with Sezary syndrome, a rare malignancy of CD4 T cells. Case report. Blood was collected 30 and 18 months prior to presentation with Sezary syndrome, at the time of presentation and during alemtuzumab. T-cell subsets in malignant (CD7-CD26-TCR-VBeta2+) and nonmalignant cells were quantified by flow cytometry. HIV-DNA in total CD4 T cells, in sorted malignant and nonmalignant CD4 T cells, was quantified by PCR and clonal expansion of HIV-DNA assessed by full-length next-generation sequencing. HIV-hepatitis B virus coinfection was diagnosed and antiretroviral therapy initiated 4 years prior to presentation with Sezary syndrome and primary cutaneous anaplastic large cell lymphoma. The patient received alemtuzumab 10 mg three times per week for 4 weeks but died 6 weeks post alemtuzumab. HIV-DNA was detected in nonmalignant but not in malignant CD4 T cells, consistent with expansion of a noninfected CD4 T-cell clone. Full-length HIV-DNA sequencing demonstrated multiple defective viruses but no identical or expanded sequences. Alemtuzumab extensively depleted T cells, including more than 1 log reduction in total T cells and more than 3 log reduction in CD4 T cells. Finally, alemtuzumab decreased HIV-DNA in CD4 T cells by 57% but HIV-DNA remained detectable at low levels even after depletion of nearly all CD4 T cells. Alemtuzumab extensively depleted multiple T-cell subsets and decreased the frequency of but did not eliminate HIV-infected CD4 T cells. Studying the effects on HIV persistence following immune recovery in HIV-infected individuals who require alemtuzumab for malignancy or in animal studies may provide further insights into novel cure strategies.

  7. Comparative evaluations of individual radiation doses at hospital environment in two decades 73-82 and 86-95

    International Nuclear Information System (INIS)

    Carreira, Mauricio Costa; Almeida, Adelaide de; Santos, Maria Concepta P.S.

    1996-01-01

    Individual radiation doses in two decades of Hospital das Clinicas, Ribeirao Preto, Sao Paulo State, Brazil, are analysed. The annual values are studied according to the hospital service and specific worker categories. The workers are classified in categories A or B as recommended by ICRP 35. Three types of individual monitors (film badges, Ca So 4 and Li F + Ca So 4 ) supplied by three distinct laboratories are compared

  8. 99mTc-exendin(9-39)/octreotide: biokinetics and radiation dosimetry in healthy individuals.

    Science.gov (United States)

    Ocampo-García, Blanca E; Santos-Cuevas, Clara L; Luna-Gutiérrez, Myrna A; Ignacio-Alvarez, Eleazar; Pedraza-López, Martha; Manzano-Mayoral, Cesar

    2017-11-01

    About 90% of insulinomas are benign and 5-15% are malignant. Benign insulinomas express the glucagon-like peptide-1 receptor (GLP-1R, which recognizes exendin-4 and low levels of the somatostatin receptor (SSTR, which recognizes octreotide), whereas malignant insulinomas overexpress SSTR and low levels of GLP-1R. Recently, Lys(Tc-EDDA/HYNIC)-exendin(9-39)/Tc-EDDA/HYNIC-Tyr-octreotide was formulated to detect 100% of insulinomas. The aim of this study was to estimate the biokinetics and dosimetry of Tc-exendin(9-39)/octreotide in four healthy individuals. Tc-exendin(9-39)/octreotide was obtained from a lyophilized formulation with radiochemical purities of more than 97%, determined by reversed-phase high-performance liquid chromatography. Whole-body images from four healthy individuals were acquired at 20 min, 2, 6, and 24 h after Tc-exendin(9-39)/octreotide administration. Regions of interest were drawn around the source organs on each time frame. Each region of interest was corrected by background, attenuation, scattered radiation, and physical decay. The image sequence was used to extrapolate the Tc-exendin(9-39)/octreotide time-activity curves of each organ to adjust the biokinetic model and calculate the total number of disintegrations (N) that occurred in the source regions. N data were the input for the OLINDA/EXM code to calculate internal radiation doses. Furthermore, in a patient suspicious of harboring an insulinoma, whole-body single-photon emission computed tomography/computed tomography images were obtained at 3 h. For four healthy individuals, the blood activity showed a half-life value of 1.20 min for the fast component (T1/2 α=ln 2/34.71), 8.7 min for the first slow component (T1/2 β=ln 2/4.76), and 1.7 h for the second slow component (T1/2 γ=ln 2/0.401). The average equivalent doses calculated for a study using 555 MBq were 15.10, 4.13, 3.08, 2.61, and 1.90 mSv for the kidneys, upper large intestinal wall, lower large

  9. Visuo-spatial knowledge acquisition in individuals with Down syndrome: The role of descriptions and sketch maps.

    Science.gov (United States)

    Meneghetti, Chiara; Lanfranchi, Silvia; Carretti, Barbara; Toffalini, Enrico

    2017-04-01

    Few studies on individuals with Down syndrome (DS) have explored how they learn space. The present study examines space learning from verbal descriptions in individuals with DS, and explores the role of external cues (such as a sketch map). Twenty-eight individuals with DS and 28 matched typically-developing (TD) children listened to route or survey descriptions with or without seeing a corresponding sketch map (Description+Sketch Map [D+SM] and Description alone [D], respectively). After hearing each description, they performed tasks that involved recognizing, arranging sequentially, and locating landmarks. The results showed that individuals with DS performed less well in recognizing landmarks and arranging them sequentially. The D+SM condition produced general benefits in both groups' accuracy, though the improvement in locating landmarks was greater in the TD than in the DS group. In both groups, the D+SM condition prompted a better performance than the D condition when participants arranged landmarks sequentially after hearing a description from a route perspective, but not from a survey perspective. Overall, our results show that individuals with DS benefited when a spatial description was associated with a corresponding sketch map, albeit to a lesser degree than TD children. The findings are discussed in the light of the literature on DS and on spatial cognition in the TD domain. Copyright © 2017 Elsevier Ltd. All rights reserved.

  10. Overview of different information about acute radiation syndrome among inhabitants around Chernobyl

    International Nuclear Information System (INIS)

    Yaroshinskaya, A.

    1998-01-01

    The Chernobyl nuclear catastrophe has divided scientists of the world, studying the consequences of its impact on the health of people, into two opposed, at times irreconcilable blocks. The first block generally comprises representatives of medical officials in the soviet and post-soviet society. They have been concealing the truth from the soviet and the world public for years. This group advocates the point of view that, except for firemen and several staff members who died at the time of the catastrophe, the Chernobyl accident has produced no practical impact on human health and will not do any such effect also in future. The second block consists basically of independent scientists. They are anxious about the facts of concealment of the truth on actual radiation doses, received by inhabitants of the areas around the Chernobyl NPP (ChNPP), as well as about impacts of low radiation dose on human health. Scientists of the second block are convinced that doses received by the population in the first days and months after the catastrophe at the ChNPP have played and will play significantly negative roles in worsening of human health years after the accident. The data on these doses have been deliberately concealed by the authorities from both the sufferers and the public. This fact has been already proven (by the Procurator General of the Ukraine as well). I have official and unofficial documents in my Chernobyl archive, which are demonstrating two approaching ways to the problems of radiological consequences due to the Chernobyl catastrophe. I would like to emphasize that these documents have never been published anywhere. In searching the answer to the question about the acute radiation syndrome among inhabitants in the areas around the Chernobyl NPP in the first weeks and months after the catastrophe, we will compare positions, arguments and conclusions of two blocks based on the facts presented in these documents. (author)

  11. Protracted Oxidative Alterations in the Mechanism of Hematopoietic Acute Radiation Syndrome

    Directory of Open Access Journals (Sweden)

    Nikolai V. Gorbunov

    2015-02-01

    Full Text Available The biological effects of high-dose total body ionizing irradiation [(thereafter, irradiation (IR] are attributed to primary oxidative breakage of biomolecule targets, mitotic, apoptotic and necrotic cell death in the dose-limiting tissues, clastogenic and epigenetic effects, and cascades of functional and reactive responses leading to radiation sickness defined as the acute radiation syndrome (ARS. The range of remaining and protracted injuries at any given radiation dose as well as the dynamics of post-IR alterations is tissue-specific. Therefore, functional integrity of the homeostatic tissue barriers may decline gradually within weeks in the post-IR period culminating with sepsis and failure of organs and systems. Multiple organ failure (MOF leading to moribundity is a common sequela of the hemotapoietic form of ARS (hARS. Onset of MOF in hARS can be presented as “two-hit phenomenon” where the “first hit” is the underlying consequences of the IR-induced radiolysis in cells and biofluids, non-septic inflammation, metabolic up-regulation of pro-oxidative metabolic reactions, suppression of the radiosensitive hematopoietic and lymphoid tissues and the damage to gut mucosa and vascular endothelium. While the “second hit” derives from bacterial translocation and spread of the bacterial pathogens and inflammagens through the vascular system leading to septic inflammatory, metabolic responses and a cascade of redox pro-oxidative and adaptive reactions. This sequence of events can create a ground for development of prolonged metabolic, inflammatory, oxidative, nitrative, and carbonyl, electrophilic stress in crucial tissues and thus exacerbate the hARS outcomes. With this perspective, the redox mechanisms, which can mediate the IR-induced protracted oxidative post-translational modification of proteins, oxidation of lipids and carbohydrates and their countermeasures in hARS are subjects of the current review. Potential role of ubiquitous

  12. Surgical treatment of a Pattern I Obstructive Sleep Apnea Syndrome individual - clinical case report

    Directory of Open Access Journals (Sweden)

    Christiane Cavalcante Feitoza

    Full Text Available Obstructive Sleep Apnea Syndrome (OSA is a multifactorial disease that highly alters a persons quality of life. It is characterized by the repeated interruption of breathing during sleep, due to an obstruction or the collapse of the upper airways. Since it is a multifactorial etiological disorder, it requires a thorough diagnosis and treatment with an interdisciplinary team, which comprises several professionals such as a surgical dentist, phonoaudiologist, otorhinolaryngologist, sleep doctor, neurologist and physiotherapist. The diagnosis and the degree of severity of the syndrome is determined through a polysomnography examination. After that, the best form of treatment is devised depending on the gravity of the case. In cases of moderate to severe apnea, invasive treatment through surgical procedures such as maxillomandibular advancement remains the preferred option as it increases the posterior air space, reducing and/or eliminating the obstruction. Thus, improving the patients respiratory function and, consequently, his quality of life as it is shown in the clinical case at hand. In which the male patient, facial pattern type I, 41 years of age, diagnosed with moderate OSA (Apnea-Hypopnea Index - AHI of 23.19, decided to have a surgical treatment instead of a conservative one, resulting in the cure of apnea (AHI of 0.3.

  13. Aerobic interval training reduces vascular resistances during submaximal exercise in obese metabolic syndrome individuals.

    Science.gov (United States)

    Mora-Rodriguez, Ricardo; Fernandez-Elias, V E; Morales-Palomo, F; Pallares, J G; Ramirez-Jimenez, M; Ortega, J F

    2017-10-01

    The aim of this study was to determine the effects of high-intensity aerobic interval training (AIT) on exercise hemodynamics in metabolic syndrome (MetS) volunteers. Thirty-eight, MetS participants were randomly assigned to a training (TRAIN) or to a non-training control (CONT) group. TRAIN consisted of stationary interval cycling alternating bouts at 70-90% of maximal heart rate during 45 min day -1 for 6 months. CONT maintained baseline physical activity and no changes in cardiovascular function or MetS factors were detected. In contrast, TRAIN increased cardiorespiratory fitness (14% in VO 2PEAK ; 95% CI 9-18%) and improved metabolic syndrome (-42% in Z score; 95% CI 83-1%). After TRAIN, the workload that elicited a VO 2 of 1500 ml min -1 increased 15% (95% CI 5-25%; P exercise heart rate (109 ± 15-106 ± 13 beats min -1 ; P exercise in MetS patients. Specifically, it reduces diastolic blood pressure, systemic vascular resistances, and the double product. The reduction in double product, suggests decreased myocardial oxygen demands which could prevent the occurrence of adverse cardiovascular events during exercise in this population. CLINICALTRIALS. NCT03019796.

  14. Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

    Science.gov (United States)

    Sunga, Annette Y; Ricker, Charité; Espenschied, Carin R; Castillo, Danielle; Melas, Marilena; Herzog, Josef; Bannon, Sarah; Cruz-Correa, Marcia; Lynch, Patrick; Solomon, Ilana; Gruber, Stephen B; Weitzel, Jeffrey N

    2017-04-01

    Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is caused by mismatch repair (MMR) gene mutations. However, data about MMR mutations in Hispanics are limited. This study aims to describe the spectrum of MMR mutations in Hispanics with LS and explore ancestral origins. This case series involved an IRB-approved retrospective chart review of self-identified Hispanic patients (n = 397) seen for genetic cancer risk assessment at four collaborating academic institutions in California, Texas, and Puerto Rico who were evaluated by MMR genotyping and/or tumor analysis. A literature review was conducted for all mutations identified. Of those who underwent clinical genetic testing (n = 176), 71 had MMR gene mutations. Nine mutations were observed more than once. One third (3/9) of recurrent mutations and two additional mutations (seen only once) were previously reported in Spain, confirming the influence of Spanish ancestry on MMR mutations in Hispanic populations. The recurrent mutations identified (n = 9) included both previously reported mutations as well as unique mutations not in the literature. This is the largest report of Hispanic MMR mutations in North America; however, a larger sample and haplotype analyses are needed to better understand recurrent MMR mutations in Hispanic populations. Copyright © 2017. Published by Elsevier Inc.

  15. Cutaneous radiation syndrome: applicability of comet assay for early assessment of irradiation consequences

    International Nuclear Information System (INIS)

    Di Giorgio, Marina; Taja, Maria R.; Bolgiani, A.; Bustos, N.; Cavalieri, H.

    2002-01-01

    Many accidental overexposures to ionizing radiation lead to an inhomogeneous irradiation of the body. Skin and mucous membranes resulted exposed to very high local radiation doses, which may be survivable because bone marrow is less severely exposed. Under these circumstances, the skin becomes an important organ in determining clinical prognosis, being dosimetric assessment a necessary requirement. There is increasing interest in the assessment of biological markers that permit the detection of radiation induced damage in the localized irradiations. The 'Comet Assay' (single cell gel electrophoresis) is a sensitive, rapid and relatively inexpensive method for measuring DNA damage in individual cells. Single cells are embedded in agarose on microscope slides, lysed to remove the majority of the proteins, electrophoreses, then stained with ethidium bromide in order to visualize the DNA. Following radiation damage, the smaller the fragment size and the grater the number of fragments of DNA, the grater the percentage of DNA that it is able to migrate in an electric field, forming a comet image. The assay can be performed under alkaline conditions to examine DNA single strand breaks (SSBs), or in non denaturing (neutral) conditions to measure double strand breaks (DSBs) in individual cells. In order to get information to be applied on the evaluation of skin biopsies without culture for an early assessment of irradiation consequences in locally irradiated individuals, we have evaluated the alkaline comet assay (for doses 5 Gy), neutral comet assay has been applied to keratinocytes from primary and secondary cultures and to a suspension of epidermal cells obtained from biopsies irradiated in vitro and afterwards processed to obtain the mentioned cellular suspension, in order to reproduce the closest condition to in vivo overexposure. Our results suggest that comet assay can be applied for the early assessment of gamma radiation induced damage in skin biopsies without

  16. Contributions of speech-language therapy to the integration of individuals with Down syndrome in the workplace.

    Science.gov (United States)

    Barbosa, Talita Maria Monteiro Farias; Lima, Ivonaldo Leidson Barbosa; Alves, Giorvan Ânderson Dos Santos; Delgado, Isabelle Cahino

    2018-03-01

    To analyze the contributions of speech-language therapy in the integration of young individuals with Down syndrome (DS) into the workplace, with reference to their professionalization. A questionnaire was distributed to eight undergraduate students (tutors) who participated in a project with individuals with DS, five mothers of individuals with DS, and five employees from the institution in which the present study was conducted. The questionnaire assessed the communication, memory, behavior, social interaction, autonomy and independence of the participants with DS, called "trainees". The trainees were employed in one of five routine work sectors at the university that conducted the present study. The data collected in this descriptive and cross-sectional study were analyzed quantitatively and qualitatively. The Research Ethics Committee of the affiliated institute approved the project. Mothers and tutors rated the trainees' language skills as "good". However, their ratings differed from those of the participating employees. After the trainees with DS were placed in a work environment, significant changes were observed in their communication and autonomy. There was no improvement in the trainees' independence, but after training noticeable changes were observed in their social behavior and autonomy. Speech-language therapy during vocational training led to positive changes in the social behavior of individuals with DS, as evidenced by an increase in their autonomy and communication.

  17. Monitoring and assessment of individual doses of occupationally exposed workers due to external radiation

    International Nuclear Information System (INIS)

    Kitaw, S. T.

    2015-05-01

    Exposure to external radiation occurs in many occupations. Any exposure to ionizing radiation has the tendency to change the biochemical make-up of the human body which may result in biological health effects of ionizing radiation. This study reviews the monitoring and assessment of external radiation doses in industrial radiography using thermoluminescence and direct reading dosimeters. Poor handling procedures such as inadequate engineering control of equipment, safety culture, management, and inadequate assessment and monitoring of doses are the causes of most of the reported cases of exposure to external radiation in industrial radiography. Occupational exposure data in industrial radiography from UNSCEAR report 2008 was discussed and recommendations were made to regulatory authorities, operating organizations and radiographers. (au)

  18. Cardiopulmonary exercise testing – effective method for evaluation and recommendation of individualized exercise training in patients with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Claudiu Avram

    2011-12-01

    Full Text Available The present study aims to emphasize the role of cardiopulmonary exercise training (CPET in evaluation and recommendation of individualized exercise training in patients with a metabolic syndrome. Methods: We performed a prospective longitudinal study of 9 months. The study group consisted of 28 young patients (21.3±3.1 years old without contraindications to exercise, previously diagnosed with metabolic syndrome according to NCEP-ATPIII criteria. All patients were evaluating at baseline and after 3 months of intervention and at the end of the study (after 9 months. The evaluation consists in performing a CPET on bicycle ergometer in which subjects were monitored in terms of cardiac and respiratory parameters. The CPET results allow us to establish the range of effort intensity in which the patient should exercise in order to burn calories and achieve the maximum fat oxidation rate. All patients benefit from an intensive interval exercise training programme, supervised and guided by a physical therapist. Exercise training consisted in 50 minutes sessions, 3 times per week, at intensive endurance training zone (in the range of anaerobic threshold, completed by 1 minute interval in the range between anaerobic threshold (AT and respiratory compensation point (RCP, for every 5 minutes of training. Results: After 9 months of intervention we noticed an improvement of abdominal obesity (waist circumference decreased from 98.98±10.14 cm to 89.54±12.32 cm, p<0.001, physical fitness (V’O2peak increased from 1.83±0.33 l/min to 2.13±0.4 l/min, p<0.001 and endurance (Oxygen uptake in the range of anaerobic treshold increase from 1.27±0.27 l/min to 1.55±0.31 l/min, p<0.001. Conclusions: Cardiopulmonary exercise testing together with training zones determinations is a useful tool for assessing the exercise capacity and drawing up individual workouts. Active and closely monitored intervention by individualized exercise training programmes leads to

  19. Excision repair in ataxia telangiectasia, Fanconi's anemia, Cockayne syndrome, and Bloom's syndrome after treatment with ultraviolet radiation and N-acetoxy-2-acetylaminofluorene

    International Nuclear Information System (INIS)

    Ahmed, F.E.; Setlow, R.B.

    1978-01-01

    Excision repair of damage due to ultraviolet radiation, N-acetoxy-2-acetylaminofluorene and a combination of both agents was studied in normal human fibroblasts and various cells from cancer prone patients (ataxia telangiectasia, Fanconi's anemia, Cockayne syndrome and Bloom's syndrome). Three methods giving similar results were used: unscheduled DNA synthesis by radioautography, photolysis of bromodeoxyuridine incorporated into parental DNA during repair, and loss of sites sensitive to an ultraviolet endonuclease. All cell lines were proficient in repair of ultraviolet and acetoxy acetylaminofluorene damage and at saturation doses of both agents repair was additive. We interpret these data as indicating that the rate limiting step in excision repair of ultraviolet and acetoxy acetylaminofluorene is different and that there are different enzyme(s) working on incision of both types of damages. (Auth.)

  20. Radiation risk factors in incidence anortality among exposed individuals of East Kazakhstand m

    Directory of Open Access Journals (Sweden)

    Kazbek Apsalikov

    2014-01-01

    Full Text Available Introduction: Lengthy clinical and epidemiological studies at the Research Institute of Radiation Medicine and Ecology have discovered basic patterns of long-term effects from ionizing radiation in population groups exposed to radiation risk. Methodology for calculating injury from radiation risk factors has been developed and implemented to minimize the effects of the Semipalatinsk nuclear test site (SNTS. Material and methods: We analyzed materials from the database of the Scientific Medical Register that were exposed to radiation as a result of SNTS. We analyzed both male and female populations of the Abay, Beskaragai and Zhanasemei, Kokpekti (control areas of East-Kazakhstan region (EKR from 2008-2012. These populations were split into three groups allocated by the generation. The first group represented persons born from the period of 01/01/1930 -08/01/1949 and their children born from the period of 10/09/1949-12/31/1962. The second group were persons born after 01/01/1963. The third group served as the control and were persons who immigrated to these areas after 1990. Results: There was an increased incidence of cancer (21.5%, p < 0.000734, cardiovascular diseases (10.2%; respiratory problems (9.6%, gastrointestinal issues (9.1%, p < 0.00371-0.00679 in the first group. The effect of the radiation dose has not been fully stuided among the subjects in the second group.The major causes of excess mortality in the first group were neoplams (30.6%, hypertension (23.8%, and myocardial infarction (22.6%. The effects of radiation influenced mortality in the second group were 2-2.5 times lower than the first group.Conclusion: There is a correlation between the size of the radiation dose, the risk profile, and age at the moment of radiation exposure with trends of morbidity and mortality in the radiation exposed areas.

  1. Protein synthesis levels are increased in a subset of individuals with Fragile X syndrome

    DEFF Research Database (Denmark)

    Jacquemont, Sébastien; Pacini, Laura; Jønch, Aia E

    2018-01-01

    architecture and plasticity. Preclinical studies revealed that pharmacological interventions restore those deficits, which are thought to mediate the FXS cognitive and behavioral symptoms. Here we characterized the de novo rate of protein synthesis in patients with FXS and their relationship with clinical...... severity. We measured the rate of protein synthesis in fibroblasts derived from 32 individuals with FXS and from 17 controls as well as in fibroblasts and primary neurons of 27 Fmr1 KO mice and 20 controls. Here we show that levels of protein synthesis are increased in fibroblasts of individuals with FXS...... and Fmr1 KO mice. However, this cellular phenotype displays a broad distribution and a proportion of fragile X individuals and Fmr1 KO mice do not show increased levels of protein synthesis, having measures in the normal range. Because the same Fmr1 KO animal measures in fibroblasts predict those...

  2. Preliminary clinical findings on NEUMUNE as a potential treatment for acute radiation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Stickney, Dwight R; Groothuis, Jessie R; Ahlem, Clarence; Kennedy, Mike; Miller, Barry S; Onizuka-Handa, Nanette; Schlangen, Karen M; Destiche, Daniel; Reading, Chris; Garsd, Armando; Frincke, James M [Harbor Biosciences, 9171 Towne Centre Drive, Suite 180, San Diego, CA 92122 (United States)

    2010-12-01

    5-androstenediol (5-AED) has been advanced as a possible countermeasure for treating the haematological component of acute radiation syndrome (ARS). It has been used in animal models to stimulate both innate and adaptive immunity and treat infection and radiation-induced immune suppression. We here report on the safety, tolerability and haematologic activity of 5-AED in four double-blinded, randomized, placebo-controlled studies on healthy adults including elderly subjects. A 5-AED injectable suspension formulation (NEUMUNE) or placebo was administered intramuscularly as either a single injection, or once daily for five consecutive days at doses of 50, 100, 200 or 400 mg. Subjects (n = 129) were randomized to receive NEUMUNE (n = 95) or the placebo (n = 34). NEUMUNE was generally well-tolerated; the most frequent adverse events were local injection site reactions (n = 104, 81%) that were transient, dose-volume dependent, mild to moderate in severity, and that resolved over the course of the study. Blood chemistries revealed a transient increase (up to 28%) in creatine phosphokinase and C-reactive protein levels consistent with intramuscular injection and injection site irritation. The blood concentration profile of 5-AED is consistent with a depot formulation that increases in disproportionate increments following each dose. NEUMUNE significantly increased circulating neutrophils (p < 0.001) and platelets (p < 0.001) in the peripheral blood of adult and elderly subjects. A dose-response relationship was identified. Findings suggest that parenteral administration of 5-AED in aqueous suspension may be a safe and effective means to stimulate innate immunity and alleviate neutropenia and thrombocytopenia associated with ARS.

  3. Preliminary clinical findings on NEUMUNE as a potential treatment for acute radiation syndrome

    International Nuclear Information System (INIS)

    Stickney, Dwight R; Groothuis, Jessie R; Ahlem, Clarence; Kennedy, Mike; Miller, Barry S; Onizuka-Handa, Nanette; Schlangen, Karen M; Destiche, Daniel; Reading, Chris; Garsd, Armando; Frincke, James M

    2010-01-01

    5-androstenediol (5-AED) has been advanced as a possible countermeasure for treating the haematological component of acute radiation syndrome (ARS). It has been used in animal models to stimulate both innate and adaptive immunity and treat infection and radiation-induced immune suppression. We here report on the safety, tolerability and haematologic activity of 5-AED in four double-blinded, randomized, placebo-controlled studies on healthy adults including elderly subjects. A 5-AED injectable suspension formulation (NEUMUNE) or placebo was administered intramuscularly as either a single injection, or once daily for five consecutive days at doses of 50, 100, 200 or 400 mg. Subjects (n = 129) were randomized to receive NEUMUNE (n = 95) or the placebo (n = 34). NEUMUNE was generally well-tolerated; the most frequent adverse events were local injection site reactions (n = 104, 81%) that were transient, dose-volume dependent, mild to moderate in severity, and that resolved over the course of the study. Blood chemistries revealed a transient increase (up to 28%) in creatine phosphokinase and C-reactive protein levels consistent with intramuscular injection and injection site irritation. The blood concentration profile of 5-AED is consistent with a depot formulation that increases in disproportionate increments following each dose. NEUMUNE significantly increased circulating neutrophils (p < 0.001) and platelets (p < 0.001) in the peripheral blood of adult and elderly subjects. A dose-response relationship was identified. Findings suggest that parenteral administration of 5-AED in aqueous suspension may be a safe and effective means to stimulate innate immunity and alleviate neutropenia and thrombocytopenia associated with ARS.

  4. Development of a specialized service for patients undergoing Cutaneous Radiation Syndrome (3040)

    International Nuclear Information System (INIS)

    Portas, M.; Coppola, A.; De Lellis, M.C.; Giongrande, J.C.; Drago, H.; Di Giorgio, M.; Dubner, D.; Dovasio, F.; Mansilla, E.

    2013-01-01

    The main purpose of this work is to stress the importance of the existence of a specialized sector within the Medical Centers for treating patients who have suffered the impact that means an apparently 'mild skin injury' and due to the lack of proper diagnosis, the progression of inflammatory waves, due to exacerbation periods, cannot be stopped. The cutaneous symptoms are caused by a combination of inflammatory process and alteration of cellular proliferation as a result of a specific pattern of proinflammatory cytokines and growth factors. The symptoms follow a time course pattern that mostly depend on the received doses, radiation quality, individual radiosensitivity, volume of skin exposed and patient's co morbidities: diabetes, smoking, obesity, etc., added to ischemia-reperfusion of the dermal vessels, and causing even more damage. For this reason, we have been working since 1997 in the frame of an agreement with the Nuclear Regulatory Authority of Argentina, for the diagnosis and treatment of localized radiation induced injuries. Patients were classified according to the toxicity criteria of the Radiation Therapy Oncology Group, and the European Organization for Research and Treatment of Cancer: grades 0 to 4. Since 2000, every patients assisted were treated with an equivalent therapeutic scheme, with a long term follow-up, showing favorable evolution in most cases. This work summarized the multidisciplinary professional group required, the therapeutic protocol and adjunctive treatments applied, and the tools used for diagnosis and follow-up. (author)

  5. Development of a specialized service for patients undergoing Cutaneous Radiation Syndrome (3040)

    Energy Technology Data Exchange (ETDEWEB)

    Portas, M.; Coppola, A.; De Lellis, M.C.; Giongrande, J.C.; Drago, H., E-mail: quemados_dtocirugia@buenosaires.gob.ar [Hospital de Quemados del Gobierno de la Ciudad de Buenos Aires (Argentina); Di Giorgio, M.; Dubner, D., E-mail: mdigiorg@cae.arn.gob.ar [Autoridad Regulatoria Nuclear (ARN), Buenos Aires (Argentina); Dovasio, F., E-mail: adrianacoppola2002@yahoo.com [Hospital Italiano de Buenos Aires (Argentina); Mansilla, E. [C.U.C.A.I.B.A, Hospital San Martin, La Plata (Argentina)

    2013-07-01

    The main purpose of this work is to stress the importance of the existence of a specialized sector within the Medical Centers for treating patients who have suffered the impact that means an apparently 'mild skin injury' and due to the lack of proper diagnosis, the progression of inflammatory waves, due to exacerbation periods, cannot be stopped. The cutaneous symptoms are caused by a combination of inflammatory process and alteration of cellular proliferation as a result of a specific pattern of proinflammatory cytokines and growth factors. The symptoms follow a time course pattern that mostly depend on the received doses, radiation quality, individual radiosensitivity, volume of skin exposed and patient's co morbidities: diabetes, smoking, obesity, etc., added to ischemia-reperfusion of the dermal vessels, and causing even more damage. For this reason, we have been working since 1997 in the frame of an agreement with the Nuclear Regulatory Authority of Argentina, for the diagnosis and treatment of localized radiation induced injuries. Patients were classified according to the toxicity criteria of the Radiation Therapy Oncology Group, and the European Organization for Research and Treatment of Cancer: grades 0 to 4. Since 2000, every patients assisted were treated with an equivalent therapeutic scheme, with a long term follow-up, showing favorable evolution in most cases. This work summarized the multidisciplinary professional group required, the therapeutic protocol and adjunctive treatments applied, and the tools used for diagnosis and follow-up. (author)

  6. Intra-Individual Variability in ADHD, Autism Spectrum Disorders and Tourette's Syndrome

    Science.gov (United States)

    Geurts, Hilde M.; Grasman, Raoul P. P. P.; Verte, Sylvie; Oosterlaan, Jaap; Roeyers, Herbert; van Kammen, Serena M.; Sergeant, Joseph A.

    2008-01-01

    The potential for response variability to serve as an endophenotype for attention deficit hyperactivity disorders (ADHD) rests, in part, upon the development of reliable and valid methods to decompose variability. This study investigated the specificity of intra-individual variability (IIV) in 53 children with ADHD by comparing them with 25…

  7. Predictive capacity of indicators of adiposity in the metabolic syndrome in elderly individuals

    Directory of Open Access Journals (Sweden)

    Keila Bacelar Duarte de MORAIS

    Full Text Available ABSTRACT Objective To evaluate the predictive ability of adiposity indicators as MetS predictors in elderly individuals. Methods Cross-sectional study enrolled in the Estratégia Saúde da Família (Family Health Strategy. Anthropometric measurements were measured. Body Mass Index, Waist-Hip Ratio, Waist-Height Ratio, Conicity Index and Body Adiposity Index were calculated. Blood was collected and resting blood pressure was measured. MetS was classified according to the harmonizing criteria. The predictive ability of anthropometric variables was evaluated using Receiver Operating Characteristic curves. Results Regarding male individuals, our research indicates that the BMI, Waist-Height Ratio and Waist Hip Ratio are better predictors and they are equivalent to each other. As for female individuals, results show that the Body Mass Index and Waist-Height Ratio are better predictors and equivalent to each other. Conclusion Waist-Height Ratio and Body Mass Index are good MetS predictors for elderly individuals, especially among men. More research in this area is important. Comitê de Ética em Pesquisa com Seres Humanos da Universidade Federal de Viçosa. (Viçosa University Ethics Committee in Research with Human Beings (nº 039/2011.

  8. Anxiety and autonomic response to social-affective stimuli in individuals with Williams syndrome.

    Science.gov (United States)

    Ng, Rowena; Bellugi, Ursula; Järvinen, Anna

    2016-12-01

    Williams syndrome (WS) is a genetic condition characterized by an unusual "hypersocial" personality juxtaposed by high anxiety. Recent evidence suggests that autonomic reactivity to affective face stimuli is disorganised in WS, which may contribute to emotion dysregulation and/or social disinhibition. Electrodermal activity (EDA) and mean interbeat interval (IBI) of 25 participants with WS (19 - 57 years old) and 16 typically developing (TD; 17-43 years old) adults were measured during a passive presentation of affective face and voice stimuli. The Beck Anxiety Inventory was administered to examine associations between autonomic reactivity to social-affective stimuli and anxiety symptomatology. The WS group was characterized by higher overall anxiety symptomatology, and poorer anger recognition in social visual and aural stimuli relative to the TD group. No between-group differences emerged in autonomic response patterns. Notably, for participants with WS, increased anxiety was uniquely associated with diminished arousal to angry faces and voices. In contrast, for the TD group, no associations emerged between anxiety and physiological responsivity to social-emotional stimuli. The anxiety associated with WS appears to be intimately related to reduced autonomic arousal to angry social stimuli, which may also be linked to the characteristic social disinhibition. Copyright © 2016. Published by Elsevier Ltd.

  9. [Reaven's metabolic syndrome X in the families of individuals with premature cerebrovascular attacks].

    Science.gov (United States)

    Vaverková, H; Ficker, L; Vlachová, I; Chudácková, J; Novotný, D; Budíková, M

    1993-08-01

    In families of subjects with premature ischaemic cerebrovascular attacks (a total of 45 families with 190 members) the authors detected a high incidence of dyslipidaemia, arterial hypertension, impaired glucose tolerance and non-insulin dependent diabetes mellitus, frequently with striking cumulation. The authors investigated therefore the relationship of the insulin level as an indirect reflection of insulin resistance with these risk factors. The fasting insulin levels correlated significantly positively with triglyceride levels, apolipoprotein B, atherogenic indices and negatively with HDL-cholesterol. The probands and siblings with arterial hypertension had significantly higher fasting insulin levels, as compared with subjects without hypertension which was due to a more frequent incidence of overweight. Patients with an impaired glucose tolerance and NIDDM had significantly higher fasting insulin levels and insulin levels after two hours (the latter value was not assessed in diabetes) and unfavourable "atherogenic" lipid and lipoprotein values, as compared with subjects without glucose intolerance and the control group. Overweight (BMI > 26) had an adverse impact on all investigated indicators of lipid and carbohydrate metabolism whereby a W/H ratio > 0.85 as a manifestation of central obesity further accentuated this adverse effect. The authors draw from these results therapeutic conclusions as regards the mentioned risk factors in these families. They emphasize the importance of non-pharmacological intervention of the metabolic X syndrome by weight reduction and more physical activity not only in families of subjects with early atherosclerosis but in the entire population which has a high prevalence of cardiovascular diseases.

  10. Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome.

    Science.gov (United States)

    Marschik, Peter B; Vollmann, Ralf; Bartl-Pokorny, Katrin D; Green, Vanessa A; van der Meer, Larah; Wolin, Thomas; Einspieler, Christa

    2014-08-01

    We assessed various aspects of speech-language and communicative functions of an individual with the preserved speech variant of Rett syndrome (RTT) to describe her developmental profile over a period of 11 years. For this study, we incorporated the following data resources and methods to assess speech-language and communicative functions during pre-, peri- and post-regressional development: retrospective video analyses, medical history data, parental checklists and diaries, standardized tests on vocabulary and grammar, spontaneous speech samples and picture stories to elicit narrative competences. Despite achieving speech-language milestones, atypical behaviours were present at all times. We observed a unique developmental speech-language trajectory (including the RTT typical regression) affecting all linguistic and socio-communicative sub-domains in the receptive as well as the expressive modality. Future research should take into consideration a potentially considerable discordance between formal and functional language use by interpreting communicative acts on a more cautionary note.

  11. Gorham-Stout syndrome of the pelvic girdle treated by radiation therapy. A case report

    International Nuclear Information System (INIS)

    Heyd, Reinhard; Tselis, Nikolaos; Zamboglou, Nikolaos; Rabeneck, Daniela; Universitaetsklinikum Frankfurt, Frankfurt am Main; Doernenburg, Oliver

    2011-01-01

    The Gorham-Stout syndrome (GSS) is a rare, benign idiopathic and progressive disorder causing massive osteolysis due to a vascular hyperproliferation replacing the bony structure. Clinical experience concerning the efficacy of radiation therapy (RT) is limited to about 50 of an overall 200 cases reported worldwide. Case Report: A 24-year-old bedridden woman had histologically proven GSS with destruction of the anterior pelvic girdle and received RT for a total dose of 45.0 Gy applied in 5 weekly fractions of 1.8 Gy. In addition, the patient received intravenously 4 mg zoledronic acid once a month. One year after the combined treatment, complete pain relief occurred, and the patient was able to walk without the use of appliances. Imaging studies revealed no progression of the osteolysis but only minimal signs of remineralization. Conclusion: Combined treatment with RT and bisphosphonate administration can prevent the progression of osteolysis in GSS. Total doses of 40-45 Gy are recommended. (orig.)

  12. Gorham-Stout syndrome of the pelvic girdle treated by radiation therapy. A case report

    Energy Technology Data Exchange (ETDEWEB)

    Heyd, Reinhard; Tselis, Nikolaos; Zamboglou, Nikolaos [Klinikum Offenbach, Offenbach am Main (Germany). Strahlenklinik; Rabeneck, Daniela [Klinikum Offenbach, Offenbach am Main (Germany). Strahlenklinik; Universitaetsklinikum Frankfurt, Frankfurt am Main (Germany). Klinik fuer Strahlentherapie und Onkologie; Doernenburg, Oliver [Klinikum Offenbach, Offenbach am Main (Germany). Inst. fuer Diagnostische und Interventionelle Radiologie

    2011-02-15

    The Gorham-Stout syndrome (GSS) is a rare, benign idiopathic and progressive disorder causing massive osteolysis due to a vascular hyperproliferation replacing the bony structure. Clinical experience concerning the efficacy of radiation therapy (RT) is limited to about 50 of an overall 200 cases reported worldwide. Case Report: A 24-year-old bedridden woman had histologically proven GSS with destruction of the anterior pelvic girdle and received RT for a total dose of 45.0 Gy applied in 5 weekly fractions of 1.8 Gy. In addition, the patient received intravenously 4 mg zoledronic acid once a month. One year after the combined treatment, complete pain relief occurred, and the patient was able to walk without the use of appliances. Imaging studies revealed no progression of the osteolysis but only minimal signs of remineralization. Conclusion: Combined treatment with RT and bisphosphonate administration can prevent the progression of osteolysis in GSS. Total doses of 40-45 Gy are recommended. (orig.)

  13. The Association of Arsenic Exposure and Arsenic Metabolism with the Metabolic Syndrome and its Individual Components: Prospective Evidence from the Strong Heart Family Study.

    Science.gov (United States)

    Spratlen, Miranda J; Grau-Perez, Maria; Best, Lyle G; Yracheta, Joseph; Lazo, Mariana; Vaidya, Dhananjay; Balakrishnan, Poojitha; Gamble, Mary V; Francesconi, Kevin A; Goessler, Walter; Cole, Shelley A; Umans, Jason G; Howard, Barbara V; Navas-Acien, Ana

    2018-03-15

    Inorganic arsenic exposure is ubiquitous and both exposure and inter-individual differences in its metabolism have been associated with cardiometabolic risk. The association between arsenic exposure and arsenic metabolism with metabolic syndrome and its individual components, however, is relatively unknown. We used poisson regression with robust variance to evaluate the association between baseline arsenic exposure (urine arsenic levels) and metabolism (relative percentage of arsenic species over their sum) with incident metabolic syndrome and its individual components (elevated waist circumference, elevated triglycerides, reduced HDL, hypertension, elevated fasting plasma glucose) in 1,047 participants from the Strong Heart Family Study, a prospective family-based cohort in American Indian communities (baseline visits in 1998-1999 and 2001-2003, follow-up visits in 2001-2003 and 2006-2009). 32% of participants developed metabolic syndrome over follow-up. An IQR increase in arsenic exposure was associated with 1.19 (95% CI: 1.01, 1.41) greater risk for elevated fasting plasma glucose but not with other individual components or overall metabolic syndrome. Arsenic metabolism, specifically lower MMA% and higher DMA% was associated with higher risk of overall metabolic syndrome and elevated waist circumference, but not with any other component. These findings support there is a contrasting and independent association between arsenic exposure and arsenic metabolism with metabolic outcomes which may contribute to overall diabetes risk.

  14. Decreased aortic growth and middle aortic syndrome in patients with neuroblastoma after radiation therapy

    International Nuclear Information System (INIS)

    Sutton, Elizabeth J.; Tong, Ricky T.; Gillis, Amy M.; Haas-Kogan, Daphne A.; Henning, Tobias D.; Boddington, Sophie; Sha, Vinil; Gooding, Charles; Coakley, Fergus V.; Daldrup-Link, Heike; Weinberg, Vivian A.; Matthay, Katherine

    2009-01-01

    Long-term CT follow-up studies are required in pediatric patients who have received intraoperative radiation therapy (IORT) and external beam radiation therapy (EBRT) to assess vascular toxicities and to determine the exact complication rate. To analyze with CT the effects of radiation therapy (RT) on the growth of the aorta in neuroblastoma patients. Abdominal CT scans of 31 patients with intraabdominal neuroblastoma (stage II-IV), treated with RT (20 IORT±EBRT, 11 EBRT alone), were analyzed retrospectively. The diameter of the abdominal aorta was measured before and after RT. These data were compared to normal and predicted normal aortic diameters of children, according to the model of Fitzgerald, Donaldson and Poznanski (aortic diameter in centimeters = 0.844+0.0599 x age in years), and to the diameters of a control group of children who had not undergone RT. Statistical analyses for the primary aims were performed using the chi-squared test, t-test, Mann-Whitney test, nonparametric Wilcoxon matched-pairs test and analysis of variance for repeated measures. Clinical files and imaging studies were evaluated for signs of late vascular complications of neuroblastoma patients who had received RT. The mean diameter before and after RT and the growth of the aorta were significantly lower than expected in patients with neuroblastoma (P<0.05 for each) and when compared to the growth in a control group with normal and nonirradiated aortas. Among the patients who had received RT, there was no difference due to the type of RT. Seven patients from the IORT±EBRT group developed vascular complications, which included hypertension (five), middle aortic syndrome (two), death due to mesenteric ischemia (one) and critical aortic stenosis, which required aortic bypass surgery (two). Patients with neuroblastoma who had received RT showed impaired growth of the abdominal aorta. Significant long-term vascular complications occurred in seven patients who received IORT±EBRT. Thus

  15. Consistent Individual Behavioral Variation: The Difference between Temperament, Personality and Behavioral Syndromes

    Directory of Open Access Journals (Sweden)

    Jill R. D. MacKay

    2015-07-01

    Full Text Available Ethologists use a variety of terminology such as “personality”, “temperament” and “behavioral syndromes” almost interchangeably to discuss the phenomenon of individuals within a population of animals consistently varying from one another in their behavioral responses to stimuli. This interchangeable usage of terminology has contributed to confusion within the field of animal behavior and limits the study of the phenomenon. Here we use a rapid, non-exhaustive and repeatable search strategy literature review to investigate where there were unique distinctions between these three terms and where there was an overlap in their usage. We identified three main areas of confusion in terminology: historical usage which is not updated; a lack of precision between different fields of study; and a lack of precision between different levels of variation. We propose a framework with which to understand and define the terms based on the levels of variation ethologists are interested in. Consistent individual animal behavioral variation relates to the different structures of variation of between-individual/between-population and between and across contexts. By formalizing this framework we provide clarity between the three terms which can be easily defined and understood.

  16. Clinical correlates of complicated grief among individuals with acute coronary syndromes

    Directory of Open Access Journals (Sweden)

    Pini S

    2015-10-01

    Full Text Available Stefano Pini,1 Camilla Gesi,1 Marianna Abelli,1 Alessandra Cardini,1 Lisa Lari,1 Francesca Felice,2 Rossella Di Stefano,2 Gianfranco Mazzotta,3 Francesco Bovenzi,4 Daniele Bertoli,5 Lucia Borelli,4 Paola Michi,1 Claudia Oligeri,3 Alberto Balbarini,2 Vijaya Manicavasagar6 1Department of Clinical and Experimental Medicine, Psychiatry Sector, University of Pisa, Pisa, 2Department of Surgical, Medical, Molecular and Critical Area Pathology, University of Pisa, Pisa, 3Unit of Cardiology, Ospedale Sant’Andrea, La Spezia, 4Cardio-Respiratory Department, Ospedale Campo di Marte, Lucca, 5Unit of Cardiology, Ospedale San Bartolomeo, Sarzana (SP, Italy; 6Black Dog Institute, University of New South Wales, Sydney, NSW, Australia Objective: The study aimed at exploring bereavement and complicated grief (CG symptoms among subjects without a history of coronary heart disease (CHD at the time of a first acute coronary syndrome (ACS and to evaluate the relationship of CG symptoms and ACS. Method: Overall, 149 subjects with ACS (namely, acute myocardial infarct with or without ST-segment elevation or unstable angina, with no previous history of CHD, admitted to three cardiac intensive care units were included and evaluated by the Structured Clinical Interview for Complicated Grief (SCI-CG, Hamilton Depression Rating Scale, Hamilton Anxiety Rating Scale, and the 36-item Short-Form Health Survey (MOS-SF-36. Results: Of the total sample of 149 subjects with ACS, 118 (79.2% met criteria for DSM-5 persistent complex bereavement disorder. Among these, subjects who lost a partner, child, or sibling were older (P=0.008, less likely to be working (P=0.032, and more likely to be suffering from hypertension (P=0.021, returned higher scores on the SCI-CG (P=0.001 and developed the index ACS more frequently between 12 and 48 months after the death than those who lost a parent or another relative (P≤0.0001. The occurrence of ACS 12–48 months (P=0.019 after the loss was

  17. Intranasal carbetocin reduces hyperphagia in individuals with Prader-Willi syndrome.

    Science.gov (United States)

    Dykens, Elisabeth M; Miller, Jennifer; Angulo, Moris; Roof, Elizabeth; Reidy, Michael; Hatoum, Hind T; Willey, Richard; Bolton, Guy; Korner, Paul

    2018-06-21

    Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder of life-threatening hyperphagia, obesity, intellectual deficits, compulsivity, and other behavioral problems. The efficacy and safety of i.n. carbetocin, an oxytocin analog, was evaluated in a prospective, randomized, double-blinded trial in adolescents with PWS. Eligible patients aged 10-18 years with genetically confirmed PWS were randomized (1:1) to i.n. carbetocin or placebo 3 times daily for 14 days. The primary efficacy endpoint was change in parent/caregiver-rated Hyperphagia in PWS Questionnaire-Responsiveness (HPWSQ-R) total score. Secondary efficacy endpoints included HPWSQ-R behavior, drive, and severity domains; clinician-rated HPWSQ; Children's Yale-Brown Obsessive-Compulsive Severity Scale; food domain of the Reiss Profile; and Clinical Global Impression-Improvement scale. Endpoints were assessed using analysis of covariance. Relationship between primary and secondary endpoints was assessed using Pearson correlation coefficients. Safety was assessed throughout the study. Demographics and clinical characteristics were similar between treatment groups (carbetocin, n = 17; placebo, n = 20). Patients receiving carbetocin had statistically significant reductions in HPWSQ-R total score at study end (-15.6) versus patients receiving placebo (-8.9; P = 0.029); several secondary efficacy endpoints also demonstrated significant differences (P primary and secondary endpoints were highly correlated (P ≤ 0.0001). Incidence of adverse events (AEs) was similar between treatment groups. I.n. carbetocin was well tolerated and improved hyperphagia and behavioral symptoms of PWS. ClinicalTrials.gov: NCT01968187FUNDING. The study was funded by Ferring Pharmaceuticals. Recruitment was aided by ongoing work in PWS performed through Eunice Kennedy Shriver National Institute of Child Health and Human Development grant U54 HD083211.

  18. Sexual life and sexual wellness in individuals with complete androgen insensitivity syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS).

    Science.gov (United States)

    Fliegner, Maike; Krupp, Kerstin; Brunner, Franziska; Rall, Katharina; Brucker, Sara Y; Briken, Peer; Richter-Appelt, Hertha

    2014-03-01

    Sexual wellness depends on a person's physical and psychological constitution. Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) can compromise sexual well-being. To compare sexual well-being in CAIS and MRKHS using multiple measures: To assess sexual problems and perceived distress. To gain insight into participants' feelings of inadequacy in social and sexual situations, level of self-esteem and depression. To determine how these psychological factors relate to sexual (dys)function. To uncover what participants see as the source of their sexual problems. Data were collected using a paper-and-pencil questionnaire. Eleven individuals with CAIS and 49 with MRKHS with/without neovagina treatment were included. Rates of sexual dysfunctions, overall sexual function, feelings of inadequacy in social and sexual situations, self-esteem and depression scores were calculated. Categorizations were used to identify critical cases. Correlations between psychological variables and sexual function were computed. Sexually active subjects were compared with sexually not active participants. A qualitative content analysis was carried out to explore causes of sexual problems. An extended list of sexual problems based on the Diagnostic and Statistical Manual of Mental Disorders, 4th ed., text revision, by the American Psychiatric Association and related distress. Female Sexual Function Index (FSFI), German Questionnaire on Feelings of Inadequacy in Social and Sexual Situations (FUSS social scale, FUSS sexual scale), Rosenberg Self-Esteem Scale (RSE), Brief Symptom Inventory (BSI) subscale depression. Open question on alleged causes of sexual problems. The results point to a far-reaching lack of sexual confidence and sexual satisfaction in CAIS. In MRKHS apprehension in sexual situations is a source of distress, but sexual problems seem to be more focused on issues of vaginal functioning. MRKHS women report being satisfied with their

  19. Prognostic significance of gastrointestinal symptoms and diagnosis in relation to the acute radiation syndrome. A retrospective analysis based on the data base SEARCH

    International Nuclear Information System (INIS)

    Hoebbel, Mathias Niklaus Johannes

    2016-01-01

    The following thesis explores the prognostic significance of gastrointestinal symptoms and diagnoses in relation to acute radiation syndrome. This is a retrospective analysis based on the SEARCH (System of Evaluation and Archiving of Radiation Accidents based on Case Histories) database, which was created by a team of researchers in Ulm in 1998. The SEARCH database compiled health status data of individuals involved in a total of 78 ionized radiation accidents between 1945 and 2003. In the past changes in bloodbuilding systems were considered the defining factor in determining a prognosis regarding survival times. Treatment decisions were made in line with these findings, including stem-cell transplants. In recent history, especially after the nuclear disaster in Chernobyl in 1986, the focus shifted onto other organ systems. As a result it has been proven that significant cutaneous damages present an important influence on survival regardless of haematopoiesis. Several researchers have looked at changes in the gastrointestinal tract and possible correlations with radiation induced multiple organ failure. In this paper, all of the data recorded in SEARCH in regards to gastrointestinal symptoms have been analyzed. These include symptoms such as nausea, vomiting and changes in bowel movement as well as their onset and severity. Radiation-induced oral mucositis was also further investigated. Despite the occasional gaps in data in SEARCH, results from the analysis proved that the occurrence of certain symptoms, their severity and their onset were directly correlated to life expectancy, regardless of the dose estimation, and the pending blood test results. An immediate triage of these patients by skilled medical professionals is imperative to accurate categorization.

  20. Organization of medical aid and treatment of individuals affected in radiation accidents

    International Nuclear Information System (INIS)

    Mikhajlov, M.G.; Andreev, E.A.; Bliznakov, V.

    1979-01-01

    The emergency programme of the medical service for radiation accidents constitutes part of the whole emergency programme of the establishment whose production process is derectly connected with the utilization of ionizing radiation sources. The chief of the establishment health centre also heads the operative radiation accident group. When a radiation accident occurs the medical personnel, according to a previously developed plan, reports at the Health centre. The medical aid is based on the principle of step treatment and evacuation of the affected persons, according to the prescriptions. The first step of the medical evacuation is the health centre; the second - the District hospital, where a team of specialists is formed, all of them previously well trained in the recognition and treatment of radiation sickness. The third step is the specialized clinic for radiation injuries. Persons, who have received irradiation dose of up to 100 rad, or are in a shock state, or have incorporated radioactive substances, are temporarily hospitalized at the health centre. The assistance rended to them consists of: control of shock, asphyxia and bleeding, primary surgical treatment of wounds in cases of complex injuries, deactivation under dosimetric control, attempt for accelerated removal of the radioactive substances, etc. At the District hospital and the specialized clinic the therapeutic measures are conformed to the pathogenetic mechanism and severity of clinical symptoms, and their dynamics. Their aim is first of all to block the earlier radiation effects, to prevent and to treat the haemorrhagic phenomena and infectious complications, to restore the activity of the blood organs, etc. (A.B.)

  1. Effects of intense aerobic exercise and/or antihypertensive medication in individuals with metabolic syndrome.

    Science.gov (United States)

    Ramirez-Jimenez, M; Morales-Palomo, F; Ortega, J F; Mora-Rodriguez, R

    2018-05-17

    We studied the blood pressure lowering effects of a bout of exercise and/or antihypertensive medicine with the goal of studying if exercise could substitute or enhance pharmacologic hypertension treatment. Twenty-three hypertensive metabolic syndrome patients chronically medicated with angiotensin II receptor 1 blockade antihypertensive medicine underwent 24-hr monitoring in four separated days in a randomized order; a) after taking their habitual dose of antihypertensive medicine (AHM trial), b) substituting their medicine by placebo medicine (PLAC trial), c) placebo medicine with a morning bout of intense aerobic exercise (PLAC+EXER trial) and d) combining the exercise and antihypertensive medicine (AHM+EXER trial). We found that in trials with AHM subjects had lower plasma aldosterone/renin activity ratio evidencing treatment compliance. Before exercise, the trials with AHM displayed lower systolic (130±16 vs 133±15 mmHg; P=0.018) and mean blood pressures (94±11 vs 96±10 mmHg; P=0.036) than trials with placebo medication. Acutely (i.e., 30 min after treatments) combining AHM+EXER lowered systolic blood pressure (SBP) below the effects of PLAC+EXER (-8.1±1.6 vs -4.9±1.5 mmHg; P=0.015). Twenty-four hour monitoring revealed no differences among trials in body motion. However, PLAC+EXER and AHM lowered SBP below PLAC during the first 10 hours, time at which PLAC+EXER effects faded out (i.e., at 19 PM). Adding exercise to medication (i.e., AHM+EXER) resulted in longer reductions in SBP than with exercise alone (PLAC+EXER). In summary, one bout of intense aerobic exercise in the morning cannot substitute the long-lasting effects of antihypertensive medicine in lowering blood pressure, but their combination is superior to exercise alone. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  2. AN EVALUATION OF THE REARFOOT POSTURE IN INDIVIDUALS WITH PATELLOFEMORAL PAIN SYNDROME

    Directory of Open Access Journals (Sweden)

    Wendy Gilleard

    2004-11-01

    Full Text Available Structural abnormalities of the foot may cause abnormal subtalar joint compensatory motion in order to attain normal function of the lower extremity during gait although studies have not been conclusive. Current conflict in the literature may be related to the differing measures focused on the varying protocols and also the absence of a control group in some studies. This study investigated the rearfoot posture including Subtalar Joint Neutral Position (STJN and Relaxed Calcaneal Standing (RCS measurements in patellofemoral pain syndrome (PFPS and healthy subjects. The angle of STJN during non-weight bearing position and the two dimensional (2D rearfoot RCS posture was measured using a goniometer in 14 healthy females and 13 females with PFPS. The RCS posture was also measured three dimensionally (3D by attaching external markers to a tibia shell and the calcaneus and videoing with a four-camera three-dimensional motion analysis system. A one way ANOVA was used to assess the differences between the groups. The 2D and 3D RCS were significantly different between the groups (p ¡Ü 0.001 with mean -0.23¡ã ¡À 1.35¡ã , 2.52¡ã ¡À 3.11¡ã for the control group and 2.35¡ã ¡À 1.4¡ã, 7.02¡ã ¡À 3.33¡ã for the clinical group respectively. STJN showed a slight rearfoot varus (although significant p = 0.04 in PFPS (-2.20¡ã ¡À 1.51¡ã compared to the control group (-1.00¡ã ¡À 1.36¡ã. Negative values indicated inversion and positive values indicated eversion. The 2D and 3D RCS showed a significantly more everted posture of the rearfoot for the PFPS group. Subtalar joint varus may contribute to the increased eversion during relaxed standing in the PFPS group. Rearfoot measurements may be an important addition to other clinical measurements taken to explore the underlying aetiology of subjects with PFPS.

  3. Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

    Science.gov (United States)

    DeStefano, A L; Cupples, L A; Arnos, K S; Asher, J H; Baldwin, C T; Blanton, S; Carey, M L; da Silva, E O; Friedman, T B; Greenberg, J; Lalwani, A K; Milunsky, A; Nance, W E; Pandya, A; Ramesar, R S; Read, A P; Tassabejhi, M; Wilcox, E R; Farrer, L A

    1998-05-01

    Waardenburg syndrome (WS) type 1 is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary abnormalities of the eye, hair, and skin, and dystopia canthorum. The phenotype is variable and affected individuals may exhibit only one or a combination of several of the associated features. To assess the relationship between phenotype and gene defect, clinical and genotype data on 48 families (271 WS individuals) collected by members of the Waardenburg Consortium were pooled. Forty-two unique mutations in the PAX3 gene, previously identified in these families, were grouped in five mutation categories: amino acid (AA) substitution in the paired domain, AA substitution in the homeodomain, deletion of the Ser-Thr-Pro-rich region, deletion of the homeodomain and the Ser-Thr-Pro-rich region, and deletion of the entire gene. These mutation classes are based on the structure of the PAX3 gene and were chosen to group mutations predicted to have similar defects in the gene product. Association between mutation class and the presence of hearing loss, eye pigment abnormality, skin hypopigmentation, or white forelock was evaluated using generalized estimating equations, which allowed for incorporation of a correlation structure that accounts for potential similarity among members of the same family. Odds for the presence of eye pigment abnormality, white forelock, and skin hypopigmentation were 2, 8, and 5 times greater, respectively, for individuals with deletions of the homeodomain and the Pro-Ser-Thr-rich region compared to individuals with an AA substitution in the homeodomain. Odds ratios that differ significantly from 1.0 for these traits may indicate that the gene products resulting from different classes of mutations act differently in the expression of WS. Although a suggestive association was detected for hearing loss with an odds ratio of 2.6 for AA substitution in the paired domain compared with AA substitution in the homeodomain, this odds

  4. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

    NARCIS (Netherlands)

    Reijnders, Margot R. F.; Janowski, Robert; Alvi, Mohsan; Self, Jay E.; van Essen, Ton J.; Vreeburg, Maaike; Rouhl, Rob P. W.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T. R. M.; Bok, Levinus A.; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E.; Douzgou, Sofia; Cooper, Nicola S.; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H. M.; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S.; Dowling, James J.; Lev, Dorit L.; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L.; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F.; Brunner, Han G.; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E.; Siu, Victoria Mok; Selber, Paulo; Leventer, Richard J.; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana

    2018-01-01

    Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives T o delineate the clinical spectrum of PURA syndrome and

  5. Radiation therapy of malignant melanoma: Experience with high individual treatment doses

    International Nuclear Information System (INIS)

    Habermalz, H.J.; Fischer, J.J.

    1984-01-01

    Melanoma is a complex tumor, metastasizes early both by lymphatic and blood vessels, and which may invoke a significant host ''immune,'' response. One can imagine a number of potentially useful roles for an effective radiation therapy regimen: 1. Treatment of the primary lesion. For small lesions located on the extremities, surgery may be simpler and obviate the risk of radiation failure. In other areas, e.g., head and neck, which may require more cosmetically or functionally debilitating surgery, a trial of radiation therapy may be worthwhile. 2. Preoperative radiation to the primary lesion before surgical resection in the hope of preventing tumor dissemination. 3. Prophylactic, local and regional lymph node radiation therapy. It has been popular in the past to remove malignant melanoma with wide local excision and dissection of adjacent node areas. It is still an open question whether some or any additional patients will be cured by the more vigorous local and extended treatment. Generally, those procedures have fallen into disfavor because of the associated morbidity. Presumably subclinical amounts of malignant melanoma could be sterilized with doses of radiation smaller than those necessary for bulk tumor. Wide field irradiation to the areas surrounding the primary lesion and the adjacent lymph nodes, to doses causing little morbidity, may well be worth clinical trial. 4. In combination with other forms of therapy, e.g., chemotherapy, immunotherapy, hyperthermia, to reduce the number of malignant cells in localized areas known to contain diseases. This may be particularly important prior to initiation of immunotherapy which may be much more effective in the absence of gross disease

  6. Molecular characterization of Salmonella strains in individuals with acute diarrhea syndrome in the State of Sucre, Venezuela.

    Science.gov (United States)

    Rodulfo, Hectorina; De Donato, Marcos; Luiggi, Jesús; Michelli, Elvia; Millán, Adriana; Michelli, Miriam

    2012-06-01

    In Venezuela, acute diarrheic syndrome (ADS) is a primary cause of morbi-mortality, often involving the Salmonella genus. Salmonella infections are associated with acute gastroenteritis, one of the most common alimentary intoxications, and caused by the consumption of contaminated water and food, especially meat. Conventional and molecular methods were used to detect Salmonella strains from 330 fecal samples from individuals of different ages and both sexes with ADS. Polymerase chain reaction (PCR) was used for the molecular characterization of Salmonella, using invA, sefA, and fliC genes for the identification of this genus and the serotypes Enteritidis and Typhimurium, respectively. The highest frequency of individuals with ADS was found in children 0-2 years old (39.4%), and the overall frequency of positive coprocultures was 76.9%. A total of 14 (4.2%) strains were biochemically and immunologically identified as Salmonella enterica subsp. enterica, of which 7 were classified as belonging to the Enteritidis serotype, 4 to the Typhimurium serotype, and 3 to other serotypes. The S. enterica strains were distributed more frequently in the age groups 3-4 and 9-10 years old. The molecular characterization method used proved to be highly specific for the typing of S. enterica strains using DNA extracted from both the isolated colonies and selective enrichment broths directly inoculated with fecal samples, thus representing a complementary tool for the detection and identification of ADS-causing bacteria.

  7. Social challenges and supports from the perspective of individuals with Asperger syndrome and other autism spectrum disabilities.

    Science.gov (United States)

    Müller, Eve; Schuler, Adriana; Yates, Gregory B

    2008-03-01

    The study describes the perspectives of individuals with Asperger syndrome and other autism spectrum disabilities (ASDs) regarding social challenges and supports. Eighteen adults with ASDs were individually interviewed. They were asked to describe their experiences navigating their social worlds, and recommend effective social supports and strategies for improving social connectedness. Qualitative analyses of the interview transcripts revealed a number of common experiences including a profound sense of isolation, difficulty initiating social interactions, challenges relating to communication, longing for greater intimacy, desire to contribute to one's community, and effort to develop greater social/self-awareness. Commonly recommended social supports included external supports (e.g. activities based on shared interests, highly structured or scripted social activities, and small groups or dyads); communication supports (e.g. alternative modes of communication, explicit communication, and instruction in interpreting and using social cues); and self-initiated strategies for handling social anxiety (e.g. creative/improvisational outlets, physical activity, spiritual practice/organized religion, and time spent alone).

  8. Individual response to ionising radiation: What predictive assay(s) to choose?; Reponse individuelle aux radiations ionisantes: quel(s) test(s) predictif(s) choisir?

    Energy Technology Data Exchange (ETDEWEB)

    Granzotto, A.; Viau, M.; Devic, C.; Maalouf, M.; Thomas, Ch.; Vogin, G.; Foray, N. [Inserm, U836, groupe de radiobiologie, institut des neurosciences, chemin Fortune-Ferrini, 38042 Grenoble (France); Granzotto, A.; Vogin, G.; Balosso, J. [Centre de hadrontherapie Etoile, 69008 Lyon (France); Joubert, A. [Societe Magelis, 84160 Cadenet (France); Maalouf, M. [Centre national d' etudes spatiales, 75001 Paris (France); Vogin, G.; Colin, C. [EA 3738, faculte de medecine, Lyon-Sud, 69921 Oullins (France); Malek, K.; Balosso, J. [Service de radiotherapie, CHU A.-Michallon, 38042 Grenoble (France); Colin, C. [Service de radiologie, CHU Lyon-Sud, 69490 Pierre-Benite (France)

    2011-02-15

    Individual response to ionizing radiation is an important information required to apply an efficient radiotherapy treatment against tumour and to avoid any adverse effects in normal tissues. In 1981, Fertil and Malaise have demonstrated that the post-irradiation local tumor control determined in vivo is correlated with clonogenic cell survival assessed in vitro. Furthermore, these authors have reminded the relevance of the concept of intrinsic radiosensitivity that is specific to each individual organ (Fertil and Malaise, 1981) [1]. To date, since clonogenicity assays are too time-consuming and do not provide any other molecular information, a plethora of research groups have attempted to determine the molecular bases of intrinsic radiosensitivity in order to propose reliable and faster predictive assays. To this aim, several approaches have been developed. Notably, the recent revolution in genomic and proteomics technologies is providing a considerable number of data but their link with radiosensitivity still remains to be elucidated. On another hand, the systematic screening of some candidate genes potentially involved in the radiation response is highlighting the complexity of the molecular and cellular mechanisms of DNA damage sensing and signalling and shows that an abnormal radiation response is not necessarily due to the impairment of one single protein. Finally, more modest approaches consisting in focusing some specific functions of DNA repair seem to provide more reliable clues to predict over-acute reactions caused by radiotherapy. In this review, we endeavored to analyse the contributions of these major approaches to predict human radiosensitivity. (authors)

  9. Reliability of individual doses relating to the epidemiological studies on nuclear industry workers in Japan (1). Historical changes on definition of radiation dose, historical changes on technical standards of measurement and radiation workplace

    International Nuclear Information System (INIS)

    Numakunai, Takao; Ishiguro, Hideharu; Kawada, Yasushi; Minami, Kentaro; Yoshimoto, Yasuhiko.

    1997-01-01

    Records of radiation workers collected in the Research Organization for Information of Science and Technology, concerning individual doses from 1957 to 1992 were used for epidemiological studies for obtaining the scientific information of the effect of low dose radiation. Since many changes were made on definition of radiation dose, dosimetry technology and so on during such a long time period, reliability of recorded individual doses and of their measurement should be evaluated for validation, which is the purpose of this paper. Followings were discussed and validation was made. Historical changes on standards for radiation protection: ICRP Recommendation and ICRU Report, and changes of law concerning radiation dose in Japan and of dose standards. Changes on dosimetry for radiation protection: ICRP Recommendation and working place dosimetry, trends of investigations for introduction of measured practical doses, ICRU sphere as a receptor, and introduction of measured practical doses. Characteristics of radiation field and radiation exposure: Radiation source and characteristics of radiation field; Research and development organizations for atomic power, atomic power plants, facilities for nuclear fuel, Classification of radiation works and characteristics of the exposure; BWR, PWR, GCR. Changes on the standards of individual dosemeter and on its use: method to use individual dosemeter and its installation, measurement of individual dose and Japanese Industrial Standard (JIS); Standard of the film badge for X and gamma rays, Standard of the film badge for neutron, Standard for thermoluminescence dosemeter, and changes on selection of the major apparatus and on its use. (K.H.)

  10. Order of the 30 December 2004 relative to the individual sheet of medical follow-up and to the individual information concerning the dosimetry of workers exposed to ionizing radiations

    International Nuclear Information System (INIS)

    2004-12-01

    This order concerns the content and the modalities of grant of the individual sheet of medical follow-up, the collect and the centralization of dosimetry individual information by the Institute of Radiation Protection and Safety (IRSN), and the access to individual results of external and internal dosimetry. (A.L.B.)

  11. The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Katrina Tatton-Brown

    2018-04-01

    Full Text Available Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879, also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants. Here we have undertaken a detailed clinical study of 55 individuals with de novo DNMT3A variants, including the 13 previously reported individuals. An intellectual disability and overgrowth were reported in >80% of individuals with TBRS and were designated major clinical associations. Additional frequent clinical associations (reported in 20-80% individuals included an evolving facial appearance with low-set, heavy, horizontal eyebrows and prominent upper central incisors; joint hypermobility (74%; obesity (weight ³2SD, 67%; hypotonia (54%; behavioural/psychiatric issues (most frequently autistic spectrum disorder, 51%; kyphoscoliosis (33% and afebrile seizures (22%. One individual was diagnosed with acute myeloid leukaemia in teenage years. Based upon the results from this study, we present our current management for individuals with TBRS

  12. Low peak jump power is associated with elevated odds of dysmobility syndrome in community-dwelling elderly individuals: the Korean Urban Rural Elderly (KURE) study.

    Science.gov (United States)

    Hong, Namki; Kim, Chang Oh; Youm, Yoosik; Kim, Hyeon Chang; Rhee, Yumie

    2018-06-01

    In a community-dwelling elderly cohort (Korean Urban Rural Elderly), low peak jump power was associated with elevated odds of dysmobility syndrome and its components, independent of age and comorbidities. Jump power measurement improved discrimination of individuals with dysmobility syndrome when added to conventional risk factors. Dysmobility syndrome was proposed to encompass the risks affecting musculoskeletal outcomes. Jump power measurement is a safe, reproducible high-intensity test for physical function in elderly. However, the relationship between jump power and dysmobility syndrome remains unknown. A total of 1369 subjects (mean 71.6 years; women, 66%) were analyzed from a community-based cohort. Dysmobility syndrome was defined as the presence of ≥ 3 factors among falls in the preceding year, low lean mass, high fat mass, osteoporosis, low grip strength, and low timed get-up-and-go (TUG) performance. Subjects were grouped into tertiles of jump power relative to weight based on sex-stratified cutoffs (32.4 and 27.6 W/kg in men; 23.9 and 19.9 W/kg in women) or into the failed-to-jump group. The prevalence of dysmobility syndrome was 20% overall, increasing from the highest (T1) to lowest (T3) jump power tertile (1, 11, 15% in men; 11, 16, 39% in women) and the failed-to-jump group (39% in men; 48% in women). Low jump power or failed-to-jump was associated with elevated odds of dysmobility syndrome (T3 vs. T1, adjusted odds ratio [aOR] 4.35, p jump vs. T1, aOR 7.60, p Jump power modestly discriminated dysmobility syndrome (area under the curve [AUC], 0.71, p jump power was associated with elevated odds of dysmobility syndrome and its components, independent of age and comorbidities.

  13. The prevalence of metabolic syndrome components, individually and in combination, in male patients admitted with acute coronary syndrome, without previous diagnosis of diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Abdurrazzak Gehani

    2013-03-01

    Full Text Available Background: Mortality from cardiovascular disease in the Middle East is projected to increase substantially in the coming decades. The prevalence of metabolic syndrome (MS in acute coronary syndrome (ACS continues to raise interest, but data from the Middle East is limited, especially in non-diabetic patients. This study was conducted to ascertain the prevalence of MS and frequency of its components, individually and in combination, in a male population presenting with ACS, but without a previous diagnosis of diabetes mellitus (DM. Methods: This is a prospective study of 467 consecutive male patients hospitalized for ACS. They were categorized according to the specific criteria stated in the latest joint statement for the global definition of MS. Results: The mean age was (49.7±10.7 years. Of the 467 patients, 324 (69.4% fulfilled the criteria for MS. ST-Elevation Myocardial Infarction (STEMI was identified in 178 patients (54.9%, and non-ST elevation ACS (NSTE-ACS in 146 patients (45.1%. These proportions were not significantly different from those without MS (STEMI 51.7% vs. NSTE-ACS 48.3%, respectively. However, patients with MS were older (50.6±10 vs. 47.9±11 years; p=0.012, and more than half of those with MS were above 50 years. The most common abnormal metabolic components were reduced high-density lipoprotein cholesterol (HDL-c; 94.1%, elevated fasting blood glucose (FBG; 89.8%, and elevated triglycerides (81.8%, followed by increased waist circumference (61.7% and raised blood pressure (40.4%. The majority of patients with MS had three or more metabolic components (326 patients, 69.4%, and 102 (21.8% had two components, but only 37 (8.4% had a single component. Conclusions: In ACS patients, without previous history of DM, MS is highly prevalent. Reduced HDL, elevated FBG and triglycerides were the most frequent metabolic components. The majority had multiple components. These findings raise alarm and show that drug therapy alone may

  14. Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.

    Science.gov (United States)

    Bramswig, Nuria C; Caluseriu, O; Lüdecke, H-J; Bolduc, F V; Noel, N C L; Wieland, T; Surowy, H M; Christen, H-J; Engels, H; Strom, T M; Wieczorek, D

    2017-03-01

    Chromatin remodeling is a complex process shaping the nucleosome landscape, thereby regulating the accessibility of transcription factors to regulatory regions of target genes and ultimately managing gene expression. The SWI/SNF (switch/sucrose nonfermentable) complex remodels the nucleosome landscape in an ATP-dependent manner and is divided into the two major subclasses Brahma-associated factor (BAF) and Polybromo Brahma-associated factor (PBAF) complex. Somatic mutations in subunits of the SWI/SNF complex have been associated with different cancers, while germline mutations have been associated with autism spectrum disorder and the neurodevelopmental disorders Coffin-Siris (CSS) and Nicolaides-Baraitser syndromes (NCBRS). CSS is characterized by intellectual disability (ID), coarsening of the face and hypoplasia or absence of the fifth finger- and/or toenails. So far, variants in five of the SWI/SNF subunit-encoding genes ARID1B, SMARCA4, SMARCB1, ARID1A, and SMARCE1 as well as variants in the transcription factor-encoding gene SOX11 have been identified in CSS-affected individuals. ARID2 is a member of the PBAF subcomplex, which until recently had not been linked to any neurodevelopmental phenotypes. In 2015, mutations in the ARID2 gene were associated with intellectual disability. In this study, we report on two individuals with private de novo ARID2 frameshift mutations. Both individuals present with a CSS-like phenotype including ID, coarsening of facial features, other recognizable facial dysmorphisms and hypoplasia of the fifth toenails. Hence, this study identifies mutations in the ARID2 gene as a novel and rare cause for a CSS-like phenotype and enlarges the list of CSS-like genes.

  15. Theory-of-mind in individuals with Alström syndrome is related to Executive functions, and verbal ability

    Directory of Open Access Journals (Sweden)

    Hans-Erik Ivert Frölander

    2015-09-01

    Full Text Available Objective: This study focuses on cognitive prerequisites for the development of Theory-of-mind (ToM, the ability to impute mental states to self and others in young adults with Alström syndrome (AS. AS is a recessively inherited ciliopathic disorder causing progressive hearing loss and juvenile blindness, both of which affect communication, as well as other dysfunctions. Two cognitive abilities were considered; Phonological working memory and Executive functions (EF, both of importance in speech development . Methods: Ten individuals (18–37 years with AS, and 20 nondisabled individuals matched for age, gender and educational level participated. Sensory functions were measured. Information about motor functions and communicative skills was obtained from questionnaire data. ToM was assessed using Happés strange stories, verbal ability by a vocabulary test, phonological WM by an auditory presented serial-recall task and EF by tests of updating and inhibition. Results: The AS group performed significantly poorer than the control group in both the ToM task and the EF tasks. A relation was established between recall of non-words and EF in the AS group. Updating, but not inhibition, correlated with verbal ability, whereas both updating and inhibition related to the ability to initiate and sustain communication. Individuals with AS displayed a high degree of variance in performance across tasks and those with a relatively high ToM performance performed within the range of the control group, in EF tasks. Poorer ToM and EF performance were related to language perseverance and motor mannerisms.Conclusions: The AS group demonstrated delayed ToM, reduced phonological WM, EF and verbal ability and for the first time an association between ToM and EF in AS was found. This association is suggested to reflect the importance of EF in developing the capacity to perceive and process input from the social environment. Limitations in EF may be related to

  16. Hypophosphatemia is a common complication in severely disabled individuals with neurological disorders and is caused by infection, refeeding and Fanconi syndrome.

    Science.gov (United States)

    Saito, Yoshiaki; Aoki, Yusuke; Takeshita, Eri; Saito, Takashi; Sugai, Kenji; Komaki, Hirofumi; Nakagawa, Eiji; Ishiyama, Akihiko; Takanoha, Satoko; Wada, Satoru; Sasaki, Masayuki

    2014-11-01

    To describe the characteristics of hypophosphatemia in severely disabled individuals with neurological disorders and to identify its causative factors. We retrospectively reviewed clinical data from 82 individuals with motor skills classified as sitting, rollover or bedridden. Age, gender and body mass index were compared in individuals with (n=19) and without (n=63) a history of hypophosphatemia (serum phosphate levels refeeding syndrome (n=4) and Fanconi syndrome (n=3), but was unidentifiable in one episode. Significant elevations in C-reactive protein levels and reductions in sodium levels were observed during hypophosphatemia episodes. Hypophosphatemia is a common complication in severely disabled individuals with frequent bacterial infections, refeeding following malnutrition and valproate administration for epilepsy treatment. Because severe hypophosphatemia is life threatening, serum phosphate levels should be closely monitored in this population. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  17. Assessment of individual radiosensitivity in human lymphocytes of cancer patients and its correlation with adverse side effects to radiation therapy

    International Nuclear Information System (INIS)

    Di Giorgio, Marina; Vallerga, Maria B.; Taja, Maria R.; Sardi, M.; Busto, E.; Roth, B.; Menendez, P.; Bonomi, M.; Mairal, L.

    2003-01-01

    Background and purpose: Individual radiosensitivity is an inherent characteristic, associated with an increased reaction to ionizing radiation on the human body. Biological endpoints such as clonogenic survival, chromosome aberration formation and repair capacity of radiation-induced damage have been applied to evaluate individual radiosensitivity in vitro. 5%-7% of cancer patients develop adverse side effects to radiation therapy in normal tissues within the treatment field, which are referred as 'clinical radiation reactions' and include acute effects, late effects and cancer induction. It has been hypothesized that the occurrence and severity of these reactions are mainly influenced by genetic susceptibility to radiation. Additionally, the nature of the genetic disorders associated with hypersensitivity to radiotherapy suggests that DNA repair mechanisms are involved. Consequently, the characterization of DNA repair in lymphocytes through cytokinesis blocked micronucleus (MN) and alkaline single-cell micro gel electrophoresis (comet) assays could be suitable approaches to evaluate individual radiosensitivity in vitro. The MN assay is an established cytogenetic technique to evaluate intrinsic cell radiosensitivity in tumor cells and lymphocytes; comet assay is a sensitive and rapid method for measuring DNA damage and repair in individual cells. The aims of this study were: 1) To assess the in vitro radiosensitivity of peripheral blood lymphocytes from two groups of cancer patients (retrospectively and prospectively studied), using MN and comet assays, in comparison with the observed clinical response; and 2) To test the predictive potential of both techniques. Materials and methods: 38 cancer patients receiving radiation therapy were enrolled in this study. The tumor sites were: head and neck (n 25) and cervix (n = 13). Nineteen patients were evaluated about 6-18 month after radiotherapy (retrospective group) and 19 patients were evaluated prior, mid-way and on

  18. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

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

  19. Influence of age and gender in response to γ-radiation in Portuguese individuals using chromosomal aberration assay - Preliminary findings

    International Nuclear Information System (INIS)

    Martins, V.; Antunes, A.C.; Cardoso, J.; Santos, L.; Gil, O. Monteiro

    2011-01-01

    Cytogenetic indicators are widely used in radiobiology to evaluate effects of ionizing radiation since dicentric chromosomes (Dic) are almost exclusively induced by ionizing radiation, and spontaneous frequency of Dic is very low in the healthy general population (about one Dic per 1000 cells). A particular interest of biodosimetry has been not only to obtain absorbed dose estimates using adequate calibration curves, under the assumption that all individuals respond equally to radiation-induced chromosome aberrations, but also to find a way to demonstrate inter-individual radiosensitivity and a possible correlation with age and gender. Thus, the objective of this preliminary work was the evaluation of the influence of age and gender on the outcome of cytogenetic biomarkers after γ-irradiation. Samples of peripheral blood lymphocytes from six healthy, non-smoker, donors from both genders (three men and three women), in the range of 20 to 49 years, were irradiated with doses from 0 Gy to 3 Gy air kerma, using a 60 Co gamma rays source with a dose rate from 170-180 mGy/min. A clear dose-dependent increase in terms of aberrant cells excluding gaps (ACEG) and Dic was observed for all donors. Our preliminary results suggest, in the higher dose level evaluated (3 Gy), a larger intervariability among individuals for Dic, with females apparently more sensitive than males (P<0.05). Considering the different age groups, male donors showed a decrease, with age, for Dic and ACEG at the higher dose and also, for the background level, in case of ACEG. Future work will consider the study of more individuals, from both genders and different ages, in order to verify if this tendency persists and to enable the implementation of a dose-response calibration curve at Instituto Tecnologico e Nuclear for the Portuguese population, to quantify the biological dose in case of a radiological accident or emergency.

  20. Influence of age and gender in response to {gamma}-radiation in Portuguese individuals using chromosomal aberration assay - Preliminary findings

    Energy Technology Data Exchange (ETDEWEB)

    Martins, V.; Antunes, A.C. [Instituto Tecnologico e Nuclear, Unidade de Proteccao e Seguranca Radiologica, Dosimetry and Radiobiology Group, E.N. 10, Apartado 21, 2686-953 Sacavem (Portugal); Cardoso, J.; Santos, L. [Instituto Tecnologico e Nuclear, Unidade de Proteccao e Seguranca Radiologica, Metrology Laboratory of Ionizing Radiation, E.N. 10, Apartado 21, 2686-953 Sacavem (Portugal); Gil, O. Monteiro, E-mail: octavia.gil@itn.pt [Instituto Tecnologico e Nuclear, Unidade de Proteccao e Seguranca Radiologica, Dosimetry and Radiobiology Group, E.N. 10, Apartado 21, 2686-953 Sacavem (Portugal)

    2011-09-15

    Cytogenetic indicators are widely used in radiobiology to evaluate effects of ionizing radiation since dicentric chromosomes (Dic) are almost exclusively induced by ionizing radiation, and spontaneous frequency of Dic is very low in the healthy general population (about one Dic per 1000 cells). A particular interest of biodosimetry has been not only to obtain absorbed dose estimates using adequate calibration curves, under the assumption that all individuals respond equally to radiation-induced chromosome aberrations, but also to find a way to demonstrate inter-individual radiosensitivity and a possible correlation with age and gender. Thus, the objective of this preliminary work was the evaluation of the influence of age and gender on the outcome of cytogenetic biomarkers after {gamma}-irradiation. Samples of peripheral blood lymphocytes from six healthy, non-smoker, donors from both genders (three men and three women), in the range of 20 to 49 years, were irradiated with doses from 0 Gy to 3 Gy air kerma, using a {sup 60}Co gamma rays source with a dose rate from 170-180 mGy/min. A clear dose-dependent increase in terms of aberrant cells excluding gaps (ACEG) and Dic was observed for all donors. Our preliminary results suggest, in the higher dose level evaluated (3 Gy), a larger intervariability among individuals for Dic, with females apparently more sensitive than males (P<0.05). Considering the different age groups, male donors showed a decrease, with age, for Dic and ACEG at the higher dose and also, for the background level, in case of ACEG. Future work will consider the study of more individuals, from both genders and different ages, in order to verify if this tendency persists and to enable the implementation of a dose-response calibration curve at Instituto Tecnologico e Nuclear for the Portuguese population, to quantify the biological dose in case of a radiological accident or emergency.

  1. Estimation of individual radiation doses determined by the biological dosimetry method at the inhabitants of the Chernobyl region

    International Nuclear Information System (INIS)

    Nikolaevich, L.N.

    1997-01-01

    The results obtained by the method of the chromosome aberration analysis in human peripheral blood lymphocytes are given. Hematologically healthy inhabitants of Vetka and Khoiniki districts in Gomel Region (80 adults and 38 children), as well as persons suffering from hemoblastosis (acute lymphoblastic leukemia, acute myeloblastic leukemia) were examined. 27258 metaphase cells being analysed. Only two-hit aberrations (dicentric and ring chromosomes with fragments and without them), specific disturbances in response to radiation effect, were tested for estimating an individual dose of ionizing radiation. The examined groups of adults and children were formed depending on the value of an individual radiation dose: 0 kGy; from 0 to 1,4 kGy and from 1,5 to 3,0 kGy. 39% of adults took the dose up to 1,5 kGy and about 9% did above 2,0 kGy. The tendency towards increasing the amount of aberrant lymphocytes in peripheral blood is observed in persons who took the dose above 2,0 kGy. Among children 52,6% took the doses from 1,5 to 3,0 kGy. No increase in the level of aberrant cells in comparison with the children from the 'zero group' was observed in those children. Apparently, in some cases slightly reduced radiation doses can be obtained by the data of the chromosome analysis method since with the time elimination of a portion of these cells with unstable chromosome aberrations takes place. Elimination of chromosome aberrations in lymphocytes can be caused by different infectious processes which are accompanied by a pronounced immune response inducing inclusion of lymphocytes with aberrations in mitosis and , as a result, disappearance of unstable mutations. However, together with elimination of old chromosome aberrations new ones, caused by ongoing radiation, emerge in people living in radio contaminated regions and thus, the radiation dose determined by the chromosome analysis method even increases with years that can favour rise in malignant tumors. The radiation dose

  2. Quality control and quality assurance in individual monitoring of ionising radiations

    International Nuclear Information System (INIS)

    Dutt, J.C.; Lindborg, L.

    1994-01-01

    This paper describes the programmes and approaches that are to be considered in developing and introducing quality assurance and quality control procedures in individual monitoring services. Quality assurance and quality control in individual monitoring services are essential to maintain quality and are of increasing importance in order to meet the requirements of national regulations and international standards and guidelines. It is recommended here that all organisations offering individual monitoring services should run their services based on the principles of Quality System as given in the European Standard EN45001 and maintain a property resources QA/QC programme as an integral part of their operations. All aspects of QA/QC in individual monitoring services starting from the initial selection, installation, calibration, and operation to the final products including dose reporting, dose record keeping, dealing with customers' complaints and product liability issues have been discussed. (Author)

  3. Evaluation of personal dose equivalent 'HP(d)' in a external individual monitoring system for X and gamma radiation

    International Nuclear Information System (INIS)

    Santoro, C.; Antonio Filho, J.; Santos, M.A.P.

    2007-01-01

    The good of individual monitoring for external radiation is the assessment of occupational exposure from X and γ radiations in order to assure that the radiological conditions of the workplace are acceptable, safe and satisfactory. The evaluation of radiations doses for workers must not exceed dose limits specified for workers, according to national regulatory agencies. Nowadays, there are two external monitoring systems in use, both based on ICRU definitions. In the conventional system, the workers doses are evaluated in terms of Hx. The personal dosimeter is worn over chest surface and it is calibrated in function of air kerma. In the new system, the workers doses are evaluated in terms of HP(d) and the personal dosimeter is calibrated in function of phantom doses. The aim of this paper is to adapt an external dosimetry laboratory (based on photographic dosimetry) to evaluate the personal dosimeters in terms of HP(d). In this way, a simple methodology, based on linear programming, was utilized. In this adaptation, calibration curves were obtained for radiation qualities (W and N series) described by International Organization for Standardization (ISO 4037-1, 1995). These calibration curves offer a better accuracy on dose determinations and energy below 140 keV, improving the quality of service rendered the society. (author)

  4. Harmonisation and dosimetric quality assurance in individual monitoring for external radiation

    DEFF Research Database (Denmark)

    Bartlett, D.T.; Ambrosi, P.; Back, C.

    2001-01-01

    The current situation amongst Member States is that there are widely differing national requirements for dosimetric services and for dosemeter performance. It is clear that with the free movement of workers within the European Union (EU) and the requirements for individual dosimetry given...... of individual monitoring using personal dosemeters and assisting movement towards harmonised procedures. An outline of the work of the action group is given and the term 'harmonisation' is discussed....

  5. Individual particle analysis of coarse air suspended particulate material by synchrotron radiation X-ray micro fluorescence

    International Nuclear Information System (INIS)

    Moreira, Silvana; Melo Junior, Ariston; Vives, Ana Elisa S. de; Nascimento Filho, Virgilio F.

    2005-01-01

    The purpose of this work is evaluate the size of individual particles present in the air suspended particulate material collected in Campinas, Sao Paulo State, and analyze quantitatively the particles using the synchrotron radiation X-ray micro fluorescence (μ-SRXRF) associated with the fundamental parameter method to correct attenuation/absorption effects by the matrix. The particles analyzed have size between 50-10 μm and to perform the spatial distribution a white beam of synchrotron radiation condensed by a conical capillary (13 μm diameter) was used. For the quantitative analysis punctual measures in thin films standards in Mylar subtract were performed. The elements detected were Si, S, Cl, K, Ca, Ti, V, Cr, Mn, Fe, Ni, Cu, Zn, Ba and Pb. (author)

  6. Individual particle analysis of coarse air suspended particulate material by synchrotron radiation X-ray micro fluorescence

    Energy Technology Data Exchange (ETDEWEB)

    Moreira, Silvana; Melo Junior, Ariston [Universidade Estadual de Campinas, SP (Brazil). Faculdade de Engenharia Civil, Arquitetura e Urbanismo. Dept. de Recursos Hidricos]. E-mail: silvana@fec.unicamp.br; Perez, Carlos Alberto [Laboratorio Nacional de Luz Sincrotron (LNLS), Campinas, SP (Brazil)]. E-mail: perez@lnls.br; Vives, Ana Elisa S. de [Universidade Metodista de Piracicaba (UNIMEP), Santa Barbara D' Oeste, SP (Brazil). Faculdade de Engenharia, Arquitetura e Urbanismo]. E-mail: aesvives@unimep.br; Nascimento Filho, Virgilio F. [Centro de Energia Nuclear na Agricultura (CENA), Piracicaba, SP (Brazil). Lab. de Instrumentacao Nuclear]. E-mail: virgilio@cena.usp.br

    2005-07-01

    The purpose of this work is evaluate the size of individual particles present in the air suspended particulate material collected in Campinas, Sao Paulo State, and analyze quantitatively the particles using the synchrotron radiation X-ray micro fluorescence ({mu}-SRXRF) associated with the fundamental parameter method to correct attenuation/absorption effects by the matrix. The particles analyzed have size between 50-10 {mu}m and to perform the spatial distribution a white beam of synchrotron radiation condensed by a conical capillary (13 {mu}m diameter) was used. For the quantitative analysis punctual measures in thin films standards in Mylar subtract were performed. The elements detected were Si, S, Cl, K, Ca, Ti, V, Cr, Mn, Fe, Ni, Cu, Zn, Ba and Pb. (author)

  7. Radiation

    International Nuclear Information System (INIS)

    2013-01-01

    The chapter one presents the composition of matter and atomic theory; matter structure; transitions; origin of radiation; radioactivity; nuclear radiation; interactions in decay processes; radiation produced by the interaction of radiation with matter

  8. Elective high-frequency oscillatory ventilation in preterm infants with respiratory distress syndrome: an individual patient data meta-analysis

    Directory of Open Access Journals (Sweden)

    Offringa Martin

    2009-05-01

    Full Text Available Abstract Background Despite the considerable amount of evidence from randomized controlled trials and meta-analyses, uncertainty remains regarding the efficacy and safety of high-frequency oscillatory ventilation as compared to conventional ventilation in the early treatment of respiratory distress syndrome in preterm infants. This results in a wide variation in the clinical use of high-frequency oscillatory ventilation for this indication throughout the world. The reasons are an unexplained heterogeneity between trial results and a number of unanswered, clinically important questions. Do infants with different risk profiles respond differently to high-frequency oscillatory ventilation? How does the ventilation strategy affect outcomes? Does the delay – either from birth or from the moment of intubation – to the start of high-frequency oscillation modify the effect of the intervention? Instead of doing new trials, those questions can be addressed by re-analyzing the individual patient data from the existing randomized controlled trials. Methods/Design A systematic review with meta-analysis based on individual patient data. This involves the central collection, validation and re-analysis of the original individual data from each infant included in each randomized controlled trial addressing this question. The study objective is to estimate the effect of high-frequency oscillatory ventilation on the risk for the combined outcome of death or bronchopulmonary dysplasia or a severe adverse neurological event. In addition, it will explore whether the effect of high-frequency oscillatory ventilation differs by the infant's risk profile, defined by gestational age, intrauterine growth restriction, severity of lung disease at birth and whether or not corticosteroids were given to the mother prior to delivery. Finally, it will explore the importance of effect modifying factors such as the ventilator device, ventilation strategy and the delay to the

  9. Diagnostic and Prognostic Significance of DSM-5 Attenuated Psychosis Syndrome in Services for Individuals at Ultra High Risk for Psychosis.

    Science.gov (United States)

    Fusar-Poli, Paolo; De Micheli, Andrea; Cappucciati, Marco; Rutigliano, Grazia; Davies, Cathy; Ramella-Cravaro, Valentina; Oliver, Dominic; Bonoldi, Ilaria; Rocchetti, Matteo; Gavaghan, Lauren; Patel, Rashmi; McGuire, Philip

    2018-02-15

    The diagnostic and prognostic significance of the DSM-5-defined Attenuated Psychosis Syndrome (DSM-5-APS) in individuals undergoing an ultra high risk (UHR) clinical assessment for suspicion of psychosis risk is unknown. Prospective cohort study including all consecutive help-seeking individuals undergoing both a DSM-5-APS and a Comprehensive Assessment of At Risk Mental States (CAARMS 12/2006) assessment for psychosis risk at the Outreach and Support in South London (OASIS) UHR service (March 2013-April 2014). The diagnostic significance of DSM-5-APS was assessed with percent overall agreement, prevalence bias adjusted kappa, Bowker's test, Stuart-Maxwell test, residual analysis; the prognostic significance with Cox regression, Kaplan-Meier failure function, time-dependent area under the curve (AUC) and net benefits analysis. The impact of specific revisions of the DSM-5-APS was further tested. In 203 help-seeking individuals undergoing UHR assessment, the agreement between the DSM-5-APS and the CAARMS 12/2006 was only moderate (kappa 0.59). Among 142 nonpsychotic cases, those meeting DSM-5-APS criteria had a 5-fold probability (HR = 5.379) of developing psychosis compared to those not meeting DSM-5-APS criteria, with a 21-month cumulative risk of psychosis of 28.17% vs 6.49%, respectively. The DSM-5-APS prognostic accuracy was acceptable (AUC 0.76 at 24 months) and similar to the CAARMS 12/2006. The DSM-5-APS designation may be clinically useful to guide the provision of indicated interventions within a 7%-35% (2-year) range of psychosis risk. The removal of the criterion E or C of the DSM-5-APS may improve its prognostic performance and transdiagnostic value. The DSM-5-APS designation may be clinically useful in individuals accessing clinical services for psychosis prevention. © The Author 2017. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For permissions, please email: journals.permissions@oup.com

  10. Skeletal maturation in individuals with Down's syndrome: Comparison between PGS curve, cervical vertebrae and bones of the hand and wrist

    Directory of Open Access Journals (Sweden)

    Glauber Carinhena

    2014-08-01

    Full Text Available INTRODUCTION: This study was conducted with the aim of adapting the methods developed by Martins and Sakima to assess skeletal maturation by cervical vertebrae in the pubertal growth spurt (PGS curve. It also aimed to test the reliability and agreement between those methods and the method of hand and wrist radiograph when compared two by two and all together. METHODS: The sample comprised 72 radiographs, with 36 lateral radiographs of the head and 36 hand-wrist radiographs of 36 subjects with Down's syndrome (DS, 13 female and 23 male, aged between 8 years and 6 months and 18 years and 7 months, with an average age of 13 years and 10 months. RESULTS AND CONCLUSIONS: Results revealed that adapting the methods developed by Martins and Sakima to assess skeletal maturation by cervical vertebrae in the curve of PGS is practical and useful in determining the stage of growth and development of individuals. The stages of maturation evaluated by cervical vertebrae and ossification centers observed in radiographs of the hand and wrist were considered reliable, with excellent level of agreement between the methods by Hassel and Farman as well as Baccetti, Franchi and McNamara Jr and Martins and Sakima. Additionally, results revealed an agreement that ranged between reasonable to good for the three methods used to assess the skeletal maturation, showing statistical significance.

  11. A Retrospective, Longitudinal, Claims-Based Comparison of Concomitant Diagnoses Between Individuals with and Without Down Syndrome.

    Science.gov (United States)

    Kong, Amanda M; Hurley, Dana; Evans, Kristin A; Brixner, Diana; Csoboth, Csilla; Visootsak, Jeannie

    2017-07-01

    Individuals with Down syndrome (DS) experience various comorbidities in excess of the prevalence seen among the non-DS population. However, the extent of the excess burden of comorbidities specifically within commercially and publicly insured DS populations aged Company, receives payment from Genentech to conduct research, including the research for this study. Truven Health Analytics also receives payment from other pharmaceutical companies to conduct research. Kong and Evans are employed by Truven Health Analytics. Csoboth is employed by Genentech. Brixner reports fees paid to the University of Utah by Truven Health Analytics on her behalf for work related to this study. Hurley reports fees from Genentech for work on this study and for work outside of this study. At the time of this study, Visootsak was employed by F. Hoffman-LaRoche Pharmaceuticals, parent company of Genentech. All authors, including those affiliated with the study sponsor, were involved in the design of the study, interpretation of the data, writing of the manuscript, and the decision to submit the manuscript for publication. Study concept and design were contributed by Kong, Hurley, and Brixner, along with Evans. Kong and Evans collected the data, and data interpretation was performed by Csoboth, Visootsak, Brixner, and Hurley, with assistance from Kong. The manuscript was written by Evans, Kong, Hurley, and Brixner and revised by Kong, Hurley, Evans, and Brixner, with assistance from Csoboth and Visootsak.

  12. Relationship between abdominal fat area measured by screening abdominal fat CT and metabolic syndrome in asymptomatic Korean individuals

    International Nuclear Information System (INIS)

    Park, Dae Woong; Park, Noh Hyuck; Park, Ji Yeon; Kim, Seon Jeong

    2017-01-01

    The purpose of this study was to investigate the relationship between abdominal fat as assessed by abdominal fat CT and metabolic syndrome (MS), especially in asymptomatic Korean individuals. Retrospectively, a medical record analysis was performed in a total of 111 patients with screening abdominal fat CT. The data such as visceral fat (VF), subcutaneous fat (SF) and VF/SF were elicited by abdominal fat CT, and we analyzed the relationship of VF, SF, and VF/SF with MS and cardiovascular risk factors. In males, VF and SF had a positive correlation with many cardiovascular risk factors and MS, but VF was superior to SF. In females, VF, but not SF, had a positive correlation with some cardiovascular risk factors and MS. The cut-off values of VF and SF to predict MS, which were calculated by drawing receiver operating characteristic curves, were as follows: the cut-off value of VF in men: 136.50 cm"2, the cut-off value of SF in men: 159.50 cm"2, and the cut-off value of VF in women: 134.50 cm"2. In conclusion, VF accumulation was the best predictor of MS and it had a positive correlation with cardiovascular risk factors in both sexes. SF also had a significant association with MS, especially in men, although it was not superior to VF

  13. The effectiveness of the computerized visual perceptual training program on individuals with Down syndrome: An fMRI study.

    Science.gov (United States)

    Wan, Yi-Ting; Chiang, Ching-Sui; Chen, Sharon Chia-Ju; Wuang, Yee-Pay

    2017-07-01

    This study investigated the effectiveness of the Computerized Visual Perception Training (CVPT) program on individuals with Down syndrome (DS, mean age=13.17±4.35years, age range: 6.54-20.75 years). All participants have mild intellectual disability classified by the standard IQ measures (mean=61.2, ranges from 55 to 68). Both the Test of Visual Perceptual Skill- Third Edition (TVPS-3) and functional magnetic resonance imaging (fMRI) were used to evaluate the training outcomes. Results of TVPS-3 and fMRI showed that DS group had visual perceptual deficits and abnormal neural networks related to visual organization. The results showed that DS intervention group had significant improvements on TVPS-3 after intervention. The fMRI results indicated more activation in superior and inferior parietal lobes (spatial manipulation), as well as precentral gyrus and dorsal premotor cortex (motor imagery) in DS intervention group. The CVPT program was effective in improving visual perceptual functions and enhancing associated cortical activations in DS. Copyright © 2017 Elsevier Ltd. All rights reserved.

  14. Relationship between abdominal fat area measured by screening abdominal fat CT and metabolic syndrome in asymptomatic Korean individuals

    Energy Technology Data Exchange (ETDEWEB)

    Park, Dae Woong; Park, Noh Hyuck; Park, Ji Yeon; Kim, Seon Jeong [Dept. of Radiology, MyoungJi Hospital, Seonam University College of Medicine, Goyang (Korea, Republic of)

    2017-07-15

    The purpose of this study was to investigate the relationship between abdominal fat as assessed by abdominal fat CT and metabolic syndrome (MS), especially in asymptomatic Korean individuals. Retrospectively, a medical record analysis was performed in a total of 111 patients with screening abdominal fat CT. The data such as visceral fat (VF), subcutaneous fat (SF) and VF/SF were elicited by abdominal fat CT, and we analyzed the relationship of VF, SF, and VF/SF with MS and cardiovascular risk factors. In males, VF and SF had a positive correlation with many cardiovascular risk factors and MS, but VF was superior to SF. In females, VF, but not SF, had a positive correlation with some cardiovascular risk factors and MS. The cut-off values of VF and SF to predict MS, which were calculated by drawing receiver operating characteristic curves, were as follows: the cut-off value of VF in men: 136.50 cm{sup 2}, the cut-off value of SF in men: 159.50 cm{sup 2}, and the cut-off value of VF in women: 134.50 cm{sup 2}. In conclusion, VF accumulation was the best predictor of MS and it had a positive correlation with cardiovascular risk factors in both sexes. SF also had a significant association with MS, especially in men, although it was not superior to VF.

  15. Skeletal maturation in individuals with Down's syndrome: Comparison between PGS curve, cervical vertebrae and bones of the hand and wrist

    Science.gov (United States)

    Carinhena, Glauber; Siqueira, Danilo Furquim; Sannomiya, Eduardo Kazuo

    2014-01-01

    Introduction This study was conducted with the aim of adapting the methods developed by Martins and Sakima to assess skeletal maturation by cervical vertebrae in the pubertal growth spurt (PGS) curve. It also aimed to test the reliability and agreement between those methods and the method of hand and wrist radiograph when compared two by two and all together. Methods The sample comprised 72 radiographs, with 36 lateral radiographs of the head and 36 hand-wrist radiographs of 36 subjects with Down's syndrome (DS), 13 female and 23 male, aged between 8 years and 6 months and 18 years and 7 months, with an average age of 13 years and 10 months. Results and Conclusions Results revealed that adapting the methods developed by Martins and Sakima to assess skeletal maturation by cervical vertebrae in the curve of PGS is practical and useful in determining the stage of growth and development of individuals. The stages of maturation evaluated by cervical vertebrae and ossification centers observed in radiographs of the hand and wrist were considered reliable, with excellent level of agreement between the methods by Hassel and Farman as well as Baccetti, Franchi and McNamara Jr and Martins and Sakima. Additionally, results revealed an agreement that ranged between reasonable to good for the three methods used to assess the skeletal maturation, showing statistical significance. PMID:25279522

  16. VLDL from Metabolic Syndrome Individuals Enhanced Lipid Accumulation in Atria with Association of Susceptibility to Atrial Fibrillation.

    Science.gov (United States)

    Lee, Hsiang-Chun; Lin, Hsin-Ting; Ke, Liang-Yin; Wei, Chi; Hsiao, Yi-Lin; Chu, Chih-Sheng; Lai, Wen-Ter; Shin, Shyi-Jang; Chen, Chu-Huang; Sheu, Sheng-Hsiung; Wu, Bin-Nan

    2016-01-20

    Metabolic syndrome (MetS) represents a cluster of metabolic derangements. Dyslipidemia is an important factor in MetS and is related to atrial fibrillation (AF). We hypothesized that very low density lipoproteins (VLDL) in MetS (MetS-VLDL) may induce atrial dilatation and vulnerability to AF. VLDL was therefore separated from normal (normal-VLDL) and MetS individuals. Wild type C57BL/6 male mice were divided into control, normal-VLDL (nVLDL), and MetS-VLDL (msVLDL) groups. VLDL (15 µg/g) and equivalent volumes of saline were injected via tail vein three times a week for six consecutive weeks. Cardiac chamber size and function were measured by echocardiography. MetS-VLDL significantly caused left atrial dilation (control, n = 10, 1.64 ± 0.23 mm; nVLDL, n = 7, 1.84 ± 0.13 mm; msVLDL, n = 10, 2.18 ± 0.24 mm; p < 0.0001) at week 6, associated with decreased ejection fraction (control, n = 10, 62.5% ± 7.7%, vs. msVLDL, n = 10, 52.9% ± 9.6%; p < 0.05). Isoproterenol-challenge experiment resulted in AF in young msVLDL mice. Unprovoked AF occurred only in elderly msVLDL mice. Immunohistochemistry showed excess lipid accumulation and apoptosis in msVLDL mice atria. These findings suggest a pivotal role of VLDL in AF pathogenesis for MetS individuals.

  17. Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.

    Science.gov (United States)

    January, Kathleen; Conway, Laura J; Deardorff, Matthew; Harrington, Ann; Krantz, Ian D; Loomes, Kathleen; Pipan, Mary; Noon, Sarah E

    2016-06-01

    Given the clinical complexities of Cornelia de Lange Syndrome (CdLS), the Center for CdLS and Related Diagnoses at The Children's Hospital of Philadelphia (CHOP) and The Multidisciplinary Clinic for Adolescents and Adults at Greater Baltimore Medical Center (GBMC) were established to develop a comprehensive approach to clinical management and research issues relevant to CdLS. Little work has been done to evaluate the general utility of a multispecialty approach to patient care. Previous research demonstrates several advantages and disadvantages of multispecialty care. This research aims to better understand the benefits and limitations of a multidisciplinary clinic setting for individuals with CdLS and related diagnoses. Parents of children with CdLS and related diagnoses who have visited a multidisciplinary clinic (N = 52) and who have not visited a multidisciplinary clinic (N = 69) were surveyed to investigate their attitudes. About 90.0% of multispecialty clinic attendees indicated a preference for multidisciplinary care. However, some respondents cited a need for additional clinic services including more opportunity to meet with other specialists (N = 20), such as behavioral health, and increased information about research studies (N = 15). Travel distance and expenses often prevented families' multidisciplinary clinic attendance (N = 41 and N = 35, respectively). Despite identified limitations, these findings contribute to the evidence demonstrating the utility of a multispecialty approach to patient care. This approach ultimately has the potential to not just improve healthcare for individuals with CdLS but for those with medically complex diagnoses in general. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  18. A multi-centre clinical follow-up database as a systematic approach to the evaluation of mid- and long-term health consequences in Chernobyl acute radiation syndrome patients

    International Nuclear Information System (INIS)

    Fischer, B.; Weiss, M.; Fliedner, T.M.; Belyi, D.A.; Kovalenko, A.N.; Bebeshko, V.G.; Nadejina, N.M.; Galstian, I.A.

    1996-01-01

    This paper describes scope, design and first results of a multi-centre follow-up database that has been established for the evaluation of mid- and long-term health consequences of acute radiation syndrome (ARS) survivors. After the Chernobyl accident on 26 April 1986, 237 cases with suspected acute radiation syndrome have been reported. For 134 of these cases the diagnosis of ARS was confirmed in a consensus conference three years after the accident. Nearly all survivors underwent regular follow-up examinations in two specialized centres in Kiev and in Moscow. In collaboration with these centres we established a multi-centre clinical follow-up database that records the results of the follow-up examinations in a standardized schema. This database is an integral part of a five step approach to patient evaluation and aims at a comprehensive base for scientific analysis of the mid- and long-term consequences of accidental ionizing radiation. It will allow for a dynamic view on the development of the health status of individuals and groups of patients as well as the identification of critical organ systems that need early support, and an improvement of acute and follow-up treatment protocols for radiation accident victims

  19. Pathobiochemical, hematological and immunological findings in pigs with an acute radiation syndrome showing only a few clinical symptoms. 3

    International Nuclear Information System (INIS)

    Rose, H.; Arndt, A.; Wolf, G.; Neumeister, K.; Riessbeck, K.H.; Gold, F.; Barth, J.; Baumann, H.; Niemiec, C.; Soelter, B.; Schwedt, P.

    1978-01-01

    Depending on time after irradiation, T lymphocytes and the immunological response of lymphocytes was estimated in store pigs after whole-body irradiation (2 Gy). Using the rosette technique a significant decrease of the T-lymphocytes was found from the second to the sixth day after irradiation. Both the leukocyte-migration test (LMT) and the leukocyte-adherence-inhibition test (LAI) led to a diminished immunological response of the lymphocytes up to 9 days after irradiation. It is concluded that the resistance is diminished in the first week after irradiation, even when only a few clinical symptoms of radiation syndrome are present. (author)

  20. Pathologic analysis on hyperplasia of mammary gland with different syndromes based on infrared radiation temperature of acupoints.

    Science.gov (United States)

    Wang, Yafang; Shen, Xueyong; Ying, Jian; Zheng, Juanjuan; Hu, Shengfang; Zhao, Ling; Deng, Haiping; Zhang, Haimeng

    2012-09-01

    To explore the pathologic characteristics of hyperplasia of the mammary gland (HMG) by observing differences in infrared radiation temperature of points of HMG in patients with different syndromes compared with healthy controls. A FLIR Systems Therma CAM P30 infrared thermal camera was used to detect the infrared temperature of Shanzhong (CV 17), Qimen (LR 14), Zhongwan (CV 12), Qihai (CV 6), Guanyuan (CV 4), Taixi (KI 3), and Taichong (LR 3) in 113 patients with HMG. Of these patients, 71 were placed in the Liver Qi stagnation group, 34 were placed in the Dysfunction of conception and thoroughfare vessels group, and 8 were placed in the Phlegm and blood stasis in combination group. The infrared radiation temperature of each point in the patients was compared with that of healthy controls, and the differences in the infrared radiation temperatures of the points in the patients were analyzed. Overall, the bilateral corresponding point in both the controls and patients exhibited no significant difference in infrared radiation temperature. In all cases, the infrared radiation temperature of the points from proximal to distal tended to decrease. In a comparison of the patients and controls, the infrared radiation temperature of the trunk points Shanzhong (CV 17), Qimen (LR 14), Zhongwan (CV 12), Qihai (CV 6), and Guanyuan (CV 4) of the patients was higher than that of the controls, while the infrared radiation temperature of the lower extremity points Taixi (KI 3) and Taichong (LR 3) was lower than that of the controls. Of these points, Shanzhong (CV 17) (P=0.0368), Zhongwan (CV 12) (P=0.0028), Qihai (CV 6) (P=0.0085), and Guanyuan (CV 4) (P=0.0018) showed significant differences. In a comparison of the corresponding point on the same side in the Liver Qi stagnation group and controls, the infrared radiation temperature of Shanzhong (CV 17) (P=0.0089), right-side Qi-men (LR 14) (P=0.0382), Zhongwan (CV 12) (P= 0.0000), Qihai (CV 6) (P=0.0011), and Guanyuan (CV 4) (P=0

  1. Presence of the Metabolic Syndrome Is Not a Better Predictor of Cardiovascular Disease Than the Sum of Its Components in HIV-Infected Individuals Data Collection on Adverse events of Anti-HIV Drugs (D:A:D) study

    NARCIS (Netherlands)

    Worm, Signe W.; Sabin, Caroline A.; Reiss, Peter; El-Sadr, Wafaa; D'Arminio Monforte, Antonella; Pradier, Christian; Thiebaut, Rodolphe; Law, Matthew; Rickenbach, Martin; de Wit, Stephane; Lundgren, Jens D.; Friis-Møller, Nina

    2009-01-01

    OBJECTIVE - It is much debated whether the metabolic syndrome contributes additional information over and above that provided by the individual components of the syndrome alone Among HIV-infected individuals, we investigated whether any particular combinations of the components included in the

  2. Rigidity in routines and the development of resistance to change in individuals with Prader-Willi syndrome.

    Science.gov (United States)

    Haig, E L; Woodcock, K A

    2017-05-01

    Individuals with Prader-Willi syndrome (PWS) commonly show debilitating resistance to change, which has been linked to cognitive deficits in task switching. Anecdotal reports suggest that exposure to flexibility in routines during development may be beneficial for limiting subsequent resistance to change in people with PWS, which is consistent with a beneficial role of such exposure on the development of task switching, highlighted in typical children. Here, we aim to investigate the development of resistance to change in individuals with PWS and hypothesise that exposure to increased rigidity in routines will be associated with increased subsequent resistance to change. An author-compiled informant report interview and two previously validated questionnaires were administered to the caregivers of 10 individuals with PWS (5-23 years). The interview examined rigidity in routines and resistance to change across life stages defined by easily distinguishable events (before school, during primary school, during secondary school, after school, currently), using open-ended and structured yes/no and 5-point Likert questions. Open-ended data were coded using an author-compiled system. Responses from two additional informants and data from the questionnaires were used to assess inter-informant reliability and concurrent validity of the structured questions. The validity of the interview was supported by acceptable inter-rater reliability of the open-ended coding system and inter-informant reliability, internal consistency and concurrent validity of structured questions. Descriptive analyses of ratings of behaviour change showed a pattern of increasing resistance to change over the life course for the four oldest individuals, who had all been exposed to substantial rigidity in routines before and during primary school. Furthermore, only one individual - currently in primary school - was exposed to very little rigidity in routines before and during primary school, and he had

  3. An assessment method of long-term radiation impacts to environment and public individual from tritium discharged by inland NPP

    International Nuclear Information System (INIS)

    Shangguan Zhihong; Huang Yanjun; Tao Yunliang

    2012-01-01

    In this paper, an assessment method of environmental impacts from long-term releases of tritium of inland nuclear power plant is proposed; the tritium concentrations in different environmental materials, including the two main chemical form HTO and OBT. and the radiation dose to public individuals including drinking water, food, inhalation. skin adsorption, are estimated based on the method and environmental parameters from typical inland NPP. The two discharge pathways, gaseous and liquid, are considered with particular concerns to drinking and irrigation ascribed to liquid discharge. This study would contribute to the assessment techniques of environmental impacts and safety of inland NPP. (authors)

  4. A prospective study of hyperparathyroidism in individuals exposed to radiation in childhood

    International Nuclear Information System (INIS)

    Cohen, J.; Gierlowski, T.C.; Schneider, A.B.

    1990-01-01

    To determine the effects of childhood irradiation on the parathyroid glands, a cohort of 4,297 patients who received radiation to the tonsils before the age of 16 years has been followed-up prospectively. Among the 2,923 patients who were located and provided information, 32 patients developed clinical hyperparathyroidism. The incidence of clinical hyperparathyroidism was 18.7 per 100,000 person-years below the age of 40 years and 171 per 100,000 person-years in the age range of 40 to 60 years. This represents a 2.9-fold and 2.5-fold increase in the incidence of hyperparathyroidism compared with that among the general population. In addition, 31% of the patients who developed hyperparathyroidism also developed thyroid cancer, which is higher than the 11.2% prevalence of thyroid cancer in the patients who received radiation therapy who did not develop parathyroid tumors. Patients with a history of head and neck irradiation should have their parathyroid glands evaluated on a regular basis

  5. Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability.

    Science.gov (United States)

    Frölander, Hans-Erik; Möller, Claes; Rudner, Mary; Mishra, Sushmit; Marshall, Jan D; Piacentini, Heather; Lyxell, Björn

    2015-01-01

    This study focuses on cognitive prerequisites for the development of theory-of-mind (ToM), the ability to impute mental states to self and others in young adults with Alström syndrome (AS). AS is a rare and quite recently described recessively inherited ciliopathic disorder which causes progressive sensorineural hearing loss and juvenile blindness, as well as many other organ dysfunctions. Two cognitive abilities were considered; Phonological working memory (WM) and executive functions (EF), both of importance in speech development. Ten individuals (18-37 years) diagnosed with AS, and 20 individuals with no known impairment matched for age, gender, and educational level participated. Sensory functions were measured. Information about motor functions and communicative skills was obtained from responses to a questionnaire. ToM was assessed using Happés strange stories, verbal ability by a vocabulary test, phonological WM by means of an auditory presented non-word serial recall task and EF by tests of updating and inhibition. The AS group performed at a significantly lower level than the control group in both the ToM task and the EF tasks. A significant correlation was observed between recall of non-words and EF in the AS group. Updating, but not inhibition, correlated significantly with verbal ability, whereas both updating and inhibition were significantly related to the ability to initiate and sustain communication. Poorer performance in the ToM and EF tasks were related to language perseverance and motor mannerisms. The AS group displayed a delayed ToM as well as reduced phonological WM, EF, and verbal ability. A significant association between ToM and EF, suggests a compensatory role of EF. This association may reflect the importance of EF to perceive and process input from the social environment when the social interaction is challenged by dual sensory loss. We argue that limitations in EF capacity in individuals with AS, to some extent, may be related to

  6. Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability

    Science.gov (United States)

    Frölander, Hans-Erik; Möller, Claes; Rudner, Mary; Mishra, Sushmit; Marshall, Jan D.; Piacentini, Heather; Lyxell, Björn

    2015-01-01

    Objective: This study focuses on cognitive prerequisites for the development of theory-of-mind (ToM), the ability to impute mental states to self and others in young adults with Alström syndrome (AS). AS is a rare and quite recently described recessively inherited ciliopathic disorder which causes progressive sensorineural hearing loss and juvenile blindness, as well as many other organ dysfunctions. Two cognitive abilities were considered; Phonological working memory (WM) and executive functions (EF), both of importance in speech development. Methods: Ten individuals (18–37 years) diagnosed with AS, and 20 individuals with no known impairment matched for age, gender, and educational level participated. Sensory functions were measured. Information about motor functions and communicative skills was obtained from responses to a questionnaire. ToM was assessed using Happés strange stories, verbal ability by a vocabulary test, phonological WM by means of an auditory presented non-word serial recall task and EF by tests of updating and inhibition. Results: The AS group performed at a significantly lower level than the control group in both the ToM task and the EF tasks. A significant correlation was observed between recall of non-words and EF in the AS group. Updating, but not inhibition, correlated significantly with verbal ability, whereas both updating and inhibition were significantly related to the ability to initiate and sustain communication. Poorer performance in the ToM and EF tasks were related to language perseverance and motor mannerisms. Conclusion: The AS group displayed a delayed ToM as well as reduced phonological WM, EF, and verbal ability. A significant association between ToM and EF, suggests a compensatory role of EF. This association may reflect the importance of EF to perceive and process input from the social environment when the social interaction is challenged by dual sensory loss. We argue that limitations in EF capacity in individuals with

  7. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

    Science.gov (United States)

    Bertola, Débora; Yamamoto, Guilherme; Buscarilli, Michelle; Jorge, Alexander; Passos-Bueno, Maria Rita; Kim, Chong

    2017-03-01

    We report on a 12-year-old Brazilian boy with the p.Pro49Arg mutation in PPP1CB, a novel gene associated with RASopathies. This is the fifth individual described, and the fourth presenting the same variant, suggesting a mutational hotspot. Phenotypically, he also showed the same hair pattern-sparse, thin, and with slow growing-, similar to the typical ectodermal finding observed in Noonan syndrome-like disorder with loose anagen hair. Additionally, he presented craniosynostosis, a rare clinical finding in RASopathies. This report gives further support that this novel RASopathy-PPP1CB-related Noonan syndrome with loose anagen hair-shares great similarity to Noonan syndrome-like disorder with loose anagen hair, and expands the phenotypic spectrum by adding the cranial vault abnormality. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  8. Effect of individual or combined treatment of heat or radiation on clostridium perfringens spores

    Energy Technology Data Exchange (ETDEWEB)

    El-Zawahry, Y A; El-Fouly, M Z; Aziz, N H

    1986-01-01

    Separate treatments of high temperature had considerable effect on Cl.perfrigens spores suspended in saline solution especially at 90 and 100[sup 0]C, while 70 and 80[sup 0]C had only slight effect on the spores viabilty. The decimal reduction times (D[sub T]) were 33.7, 26, 4, 10.7 and 2.8 at 70, 80, 90 and 100[sup 0]C for NCTC 8798 strain and were 45.1, 27.1, 10.2 and 4.0 for the Egyptian strain at the same degrees of temperature respectively. Heat treatment pre-irradiation at 70 and 80[sup 0]C for 30 and 60 min decreased the viable spore numbers by about 0.5 to 3.0 log cycles, but the treatment had no effect on increasing the sensitivity of the rest spores to radiation. The decimal reduction dose (D[sub 10]-value) for the spores was almost the same as the control but there was a tendency to reduce the shoulder part in the radiation response curve especially when the spores were subjected to 80[sup 0]C for 60 min. On the other hand, irradiation pre-heat treatment with doses from 1-10 KGY was sufficient to decrease the spore numbers from 0.2 to 5.0 log cycles and had a sensitizing effect on subsequently heated spores especially those exposed to 90 and 100[sup 0]C. Meanwhile the rate of inactivation for spores exposed to 70 and 80[sup 0]C after irradiation increased only during the first ten minutes. Thereafter, the rate of inactivation was almost the same for the non-irradiated spores. The D[sub 10]-values for the spores irradiated with 10 KGY were 0.77 and 0.84 minutes for NCTC 8798 strain and Egyptian strain at 100[sup 0]C respectively and the spores were completely destroyed before 5 minutes.

  9. The absence of radiation-induced adaptive response in lymphocytes of patients with Down's syndrome

    International Nuclear Information System (INIS)

    Khandogina, E.K.; Mutovin, G.R.; Zvereva, S.V.; Zverev, D.O.; Neudakhin, E.V.; Arkhipov, B.A.; Akif'ev, A.P.; AN SSSR, Moscow

    1991-01-01

    The adaptive syndrome and response (AR) in lymphocytes from 6 patients with Down syndrome (DS) were investigated. No AR was found to occur in all cases in DS cells pre-exposed to 3 rad of X-rays in S phase of cell cycle and then irradiated with 150 rad of gamma rays in G2 whereas the chromosome aberrations yield in cells from control donors was decreased twice under such conditions of the experiment

  10. Chromosome aberrations in peripheral blood lymphocytes of individuals living in high level natural radiation areas of Ramsar, Iran: final results

    International Nuclear Information System (INIS)

    Zakeri, F.; Haeri, S.A.; Rajabpour, M.R.; Ahmadpour, M.J.; Kanda, R.; Hayata, I.; Nakamura, S.; Sugahara, T.

    2010-01-01

    The absorbed radiation dose of each individual in the HLNRA and the control area was estimated from the dose measured by an electronic pocket dosimeter (EPDTM) for one day and an optically stimulated luminescence dosimeter (OSLD) for one month. The accumulated doses per year and whole life in all individuals were estimated by both types of dosimeters. Using chromosomal aberrations as the main endpoint to assess the dose-effect relationship in residents of HLNRA, no positive correlation was found between the frequency of dicentric and centric ring aberrations and the cumulative dose of the inhabitants. These results as well as the earlier studies clearly show that individuals residing in HLNRAS of Ramsar have an increased frequency of detectable abnormalities in unstable aberrations. Due to some difficulties, the shape of the dose response has yet to be determined. In this paper, the methodologies applied and the results obtained from the most recent chromosome aberration studies in HLNRAS of Ramsar will be reviewed and discussed in order to conclude results and better understand such effects in particular in individuals of very HLNRAS of Ramsar. (author)

  11. Pitfalls in Prediction Modeling for Normal Tissue Toxicity in Radiation Therapy: An Illustration With the Individual Radiation Sensitivity and Mammary Carcinoma Risk Factor Investigation Cohorts

    Energy Technology Data Exchange (ETDEWEB)

    Mbah, Chamberlain, E-mail: chamberlain.mbah@ugent.be [Department of Basic Medical Sciences, Faculty of Health Sciences, Ghent University, Ghent (Belgium); Department of Mathematical Modeling, Statistics, and Bioinformatics, Faculty of Bioscience Engineering, Ghent University, Ghent (Belgium); Thierens, Hubert [Department of Basic Medical Sciences, Faculty of Health Sciences, Ghent University, Ghent (Belgium); Thas, Olivier [Department of Mathematical Modeling, Statistics, and Bioinformatics, Faculty of Bioscience Engineering, Ghent University, Ghent (Belgium); National Institute for Applied Statistics Research Australia, University of Wollongong, Wollongong, New South Wales (Australia); De Neve, Jan [Department of Data Analysis, Faculty of Psychology and Educational Sciences, Ghent University, Ghent (Belgium); Chang-Claude, Jenny; Seibold, Petra; Botma, Akke [Division of Cancer Epidemiology, German Cancer Research Center, Heidelberg (Germany); West, Catharine [Translational Radiobiology Group, Institute of Cancer Sciences, Radiotherapy Related Research, Christie Hospital NHS Trust, University of Manchester, Manchester (United Kingdom); De Ruyck, Kim [Department of Basic Medical Sciences, Faculty of Health Sciences, Ghent University, Ghent (Belgium)

    2016-08-01

    Purpose: To identify the main causes underlying the failure of prediction models for radiation therapy toxicity to replicate. Methods and Materials: Data were used from two German cohorts, Individual Radiation Sensitivity (ISE) (n=418) and Mammary Carcinoma Risk Factor Investigation (MARIE) (n=409), of breast cancer patients with similar characteristics and radiation therapy treatments. The toxicity endpoint chosen was telangiectasia. The LASSO (least absolute shrinkage and selection operator) logistic regression method was used to build a predictive model for a dichotomized endpoint (Radiation Therapy Oncology Group/European Organization for the Research and Treatment of Cancer score 0, 1, or ≥2). Internal areas under the receiver operating characteristic curve (inAUCs) were calculated by a naïve approach whereby the training data (ISE) were also used for calculating the AUC. Cross-validation was also applied to calculate the AUC within the same cohort, a second type of inAUC. Internal AUCs from cross-validation were calculated within ISE and MARIE separately. Models trained on one dataset (ISE) were applied to a test dataset (MARIE) and AUCs calculated (exAUCs). Results: Internal AUCs from the naïve approach were generally larger than inAUCs from cross-validation owing to overfitting the training data. Internal AUCs from cross-validation were also generally larger than the exAUCs, reflecting heterogeneity in the predictors between cohorts. The best models with largest inAUCs from cross-validation within both cohorts had a number of common predictors: hypertension, normalized total boost, and presence of estrogen receptors. Surprisingly, the effect (coefficient in the prediction model) of hypertension on telangiectasia incidence was positive in ISE and negative in MARIE. Other predictors were also not common between the 2 cohorts, illustrating that overcoming overfitting does not solve the problem of replication failure of prediction models completely

  12. Effect of low-dose gamma radiation on individual phospholipids in aqueous suspension

    International Nuclear Information System (INIS)

    Tinsley, P.W.; Maerker, G.

    1993-01-01

    A series of individual phospholipids (phosphatidylcholines, phosphatidylethanolamines, phosphatidylserines and phosphatidylglycerols) containing either saturated or unsaturated fatty acid chains was irradiated at 9.66 kgy and 0.4 degree C in aqueous suspension. The phospholipids were analyzed by normal-phase high-performance liquid chromatography on a silica column with an evporative light scattering detector. Phospholipid disppearance and production of two radiolytic products, phosphatidic acid and the lysophospholipid, after irradiation were quantitated from calibration curves of synthetic standards. Dipalmitoylphosphatidic acid and monopalmitoylphosphatidylcholine from irradiated dipalmitoylphosphatidylcholine were identified by liquid secondary-ion mass spectrometry

  13. Individual Radiation Protection Monitoring in the Marshall Islands. Utrok Atoll (2010-2012)

    Energy Technology Data Exchange (ETDEWEB)

    Hamilton, T. F. [Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States); Kehl, S. R. [Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States); Martinelli, R. E. [Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States); Hickman, R. E. [Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States); Hickman, D. P. [Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States); Tumey, S. J. [Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States); Brown, T. A. [Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States); Langston, R. G. [Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States); Tamblin, M. W. [Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States); Tibon, S. [Utrok Whole Body Counting Facility, Majuro Atoll (Republic of the Marshall Islands); Chee, L. [Utrok Whole Body Counting Facility, Majuro Atoll (Republic of the Marshall Islands); Aisek, Jr., A. [Utrok Whole Body Counting Facility, Majuro Atoll (Republic of the Marshall Islands); DeDrum, Z. [Utrok Whole Body Counting Facility, Majuro Atoll (Republic of the Marshall Islands); Mettao, M. [Utrok Whole Body Counting Facility, Majuro Atoll (Republic of the Marshall Islands); Henson, J. [Utrok Whole Body Counting Facility, Majuro Atoll (Republic of the Marshall Islands)

    2014-12-15

    As a hard copy supplement to the Marshall Islands Program website (https://marshallislands.llnl.gov), this document provides an overview of the individual radiological surveillance monitoring program established in support of residents of Utrōk Atoll and nonresident citizens of the Utrōk Atoll population group, along with full disclosure of verified measurement data (2010-2012). The Utrōk Atoll Whole Body Counting Facility has been temporarily stationed on Majuro Atoll and, in cooperation with the Utrōk Atoll Local Government, serves as a national radiological facility open to the general public.

  14. Generation of Integration-Free Induced Pluripotent Stem Cells from Urine-Derived Cells Isolated from Individuals with Down Syndrome.

    Science.gov (United States)

    M Lee, Young; Zampieri, Bruna L; Scott-McKean, Jonah J; Johnson, Mark W; Costa, Alberto C S

    2017-06-01

    Down syndrome (DS) is a genetic disorder caused by trisomy 21 (T21). Over the past two decades, the use of mouse models has led to significant advances in the understanding of mechanisms underlying various phenotypic features and comorbidities secondary to T21 and even informed the design of clinical trials aimed at enhancing the cognitive abilities of persons with DS. In spite of its success, this approach has been plagued by all the typical limitations of rodent modeling of human disorders and diseases. Recently, several laboratories have succeeded in producing T21 human induced pluripotent stem cells (T21-iPSCs) from individuals with DS, which is emerging as a promising complementary tool for the study of DS. Here, we describe the method by which we generated 10 T21-iPSC lines from epithelial cells in urine samples, presumably from kidney epithelial origin, using nonintegrating episomal vectors. We also show that these iPSCs maintain chromosomal stability for well over 20 passages and are more sensitive to proteotoxic stress than euploid iPSCs. Furthermore, these iPSC lines can be differentiated into glutamatergic neurons and cardiomyocytes. By culturing urine-derived cells and maximizing the efficiency of episomal vector transfection, we have been able to generate iPSCs noninvasively and effectively from participants with DS in an ongoing clinical trial, and thus address most shortcomings of previously generated T21-iPSC lines. These techniques should extend the application of iPSCs in modeling DS and other neurodevelopmental and neurodegenerative disorders, and may lead to future human cell-based platforms for high-throughput drug screening. Stem Cells Translational Medicine 2017;6:1465-1476. © 2017 The Authors Stem Cells Translational Medicine published by Wiley Periodicals, Inc. on behalf of AlphaMed Press.

  15. Individual receptor profiling as a novel tool to support diagnosis of bladder pain syndrome/interstitial cystitis (BPS/IC).

    Science.gov (United States)

    Neuhaus, Jochen; Schulte-Baukloh, Heinrich; Stolzenburg, Jens-Uwe; Speroni di Fenizio, Pietro; Horn, Lars-Christian; Rüffert, Henrik; Hartenstein, Siegurd; Burger, Maximilian; Schulze, Matthias; Schwalenberg, Thilo

    2012-10-01

    Dysregulation of neurotransmitter receptors may contribute to bladder overactivity (OAB) symptoms. To address the question whether specific receptor expression patterns are associated with bladder pain syndrome/interstitial cystitis (BPS/IC), we examined the expression of muscarinic, purinergic and histamine receptors in the detrusor. Detrusor receptor expression was investigated in bladder biopsies of female BPS/IC patients (n = 44; age 60.64 ± 13.78, mean ± SD) and carcinoma patients (n = 11; age 58.91 ± 12.72) undergoing cystectomy. Protein expression of muscarinic (M2, M3), purinergic (P2X1-3) and histamine receptors (H1, H2) was analysed by confocal immunofluorescence, and gene expression was quantified by real-time polymerase chain reaction (qPCR). M2, P2X1, P2X2 and H1 receptor immunoreactivity (-IR) was significantly enhanced in BPS/IC compared to the control group, while there was no difference for M3-, P2X3- and H2-IR. We calculated a score, which separated BPS/IC from control patients with an AUC of 89.46%, showing 84.09% sensitivity and 90.91% specificity. Patients had a 9.25 times enhanced calculated risk for BPS/IC. In addition, two patient subgroups (M2 > M3 and M3 > M2) were observed, which differed in associated purinergic and histamine receptor expression. M2, P2X1, P2X2 and H1 were significantly upregulated in BPS/IC patients, and H2 was occasionally highly overexpressed. There was no significant correlation between receptor protein and gene expression, implying posttranslational mechanisms being responsible for the altered receptor expressions. On the basis of individual receptor profiles, upregulated receptors could be targeted by monotherapy or combination therapy with already approved receptor inhibitors, thereby promoting tailored therapy for patients suffering from BPS/IC-like symptoms.

  16. AN INVESTIGATION OF A REFERENCE POSTURE USED IN DETERMINING REARFOOT KINEMATICS FOR BOTH HEALTHY AND PATELLOFEMORAL PAIN SYNDROME INDIVIDUALS

    Directory of Open Access Journals (Sweden)

    Pazit Levinger

    2005-09-01

    Full Text Available The choice of a reference posture is important when investigating rearfoot motion in clinical populations. The reference posture used may affect the magnitude of the peak angles and therefore may not enable comparison of the rearfoot kinematics across different populations. This study examined the relationship between the rearfoot frontal plane pattern of motion and three reference postures during the stance phase of walking in healthy and patellofemoral pain syndrome (PFPS subjects. The three reference postures investigated were: Relaxed Standing posture, subtalar joint neutral position (STJN and when the calcaneus and the lower leg were vertically aligned (Vertical Alignment. The rearfoot inversion/eversion during the stance phase was measured in 14 healthy subjects and 13 subjects with diagnosed PFPS using three dimensional motion analysis with the three different reference postures. The graphs of rearfoot inversion/eversion motion were overlaid with the angle at the rearfoot in the static posture and any intersection between the static angle and rearfoot motion was noted. An ANOVA showed significant differences in static posture between the groups for Relaxed Standing (p = 0.01, and STJN (p = 0.02. For both groups, with Relaxed Standing as a reference posture, the mean rearfoot pattern of motion did not intersect the Relaxed Standing static angle during the stance phase. The use of Vertical Alignment reference posture, however, showed an intersection of this reference posture through the rearfoot pattern of motion. The use of the Vertical Alignment reference posture also generated a typical rearfoot motion pattern for both groups and therefore it may be an appropriate reference posture for both healthy and PFPS individuals

  17. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

    Science.gov (United States)

    Bramswig, Nuria C; Lüdecke, Hermann-Josef; Alanay, Yasemin; Albrecht, Beate; Barthelmie, Alexander; Boduroglu, Koray; Braunholz, Diana; Caliebe, Almuth; Chrzanowska, Krystyna H; Czeschik, Johanna Christina; Endele, Sabine; Graf, Elisabeth; Guillén-Navarro, Encarna; Kiper, Pelin Özlem Simsek; López-González, Vanesa; Parenti, Ilaria; Pozojevic, Jelena; Utine, Gulen Eda; Wieland, Thomas; Kaiser, Frank J; Wollnik, Bernd; Strom, Tim M; Wieczorek, Dagmar

    2015-06-01

    Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NCBRS) are rare intellectual disability/congenital malformation syndromes that represent distinct entities but show considerable clinical overlap. They are caused by mutations in genes encoding members of the BRG1- and BRM-associated factor (BAF) complex. However, there are a number of patients with the clinical diagnosis of CSS or NCBRS in whom the causative mutation has not been identified. In this study, we performed trio-based whole-exome sequencing (WES) in ten previously described but unsolved individuals with the tentative diagnosis of CSS or NCBRS and found causative mutations in nine out of ten individuals. Interestingly, our WES analysis disclosed overlapping differential diagnoses including Wiedemann-Steiner, Kabuki, and Adams-Oliver syndromes. In addition, most likely causative de novo mutations were identified in GRIN2A and SHANK3. Moreover, trio-based WES detected SMARCA2 and SMARCA4 deletions, which had not been annotated in a previous Haloplex target enrichment and next-generation sequencing of known CSS/NCBRS genes emphasizing the advantages of WES as a diagnostic tool. In summary, we discuss the phenotypic and diagnostic challenges in clinical genetics, establish important differential diagnoses, and emphasize the cardinal features and the broad clinical spectrum of BAF complex disorders and other disorders caused by mutations in epigenetic landscapers.

  18. Associations of Child and Adolescent Mastery Motivation and Self-Regulation With Adult Outcomes: A Longitudinal Study of Individuals With Down Syndrome.

    Science.gov (United States)

    Gilmore, Linda; Cuskelly, Monica

    2017-05-01

    This 20-year prospective longitudinal study focuses on the contribution of mastery motivation and self-regulation to adult outcomes for individuals with Down syndrome. In earlier phases of the research, 25 participants completed measures of cognitive ability, mastery motivation and self-regulation in childhood (4 to 6 years) and adolescence (11 to 15 years). In the adult phase reported here, self-determination and adaptive behavior were assessed in 21 of the original participants at age 23 to 26 years. Mastery motivation and self-regulation made unique contributions to adult outcomes, over and above the effects of cognitive ability. The findings provide powerful evidence about the important role of child and adolescent mastery motivation and self-regulation for the adult lives of individuals with Down syndrome.

  19. Automation and Intensity Modulated Radiation Therapy for Individualized High-Quality Tangent Breast Treatment Plans

    International Nuclear Information System (INIS)

    Purdie, Thomas G.; Dinniwell, Robert E.; Fyles, Anthony; Sharpe, Michael B.

    2014-01-01

    Purpose: To demonstrate the large-scale clinical implementation and performance of an automated treatment planning methodology for tangential breast intensity modulated radiation therapy (IMRT). Methods and Materials: Automated planning was used to prospectively plan tangential breast IMRT treatment for 1661 patients between June 2009 and November 2012. The automated planning method emulates the manual steps performed by the user during treatment planning, including anatomical segmentation, beam placement, optimization, dose calculation, and plan documentation. The user specifies clinical requirements of the plan to be generated through a user interface embedded in the planning system. The automated method uses heuristic algorithms to define and simplify the technical aspects of the treatment planning process. Results: Automated planning was used in 1661 of 1708 patients receiving tangential breast IMRT during the time interval studied. Therefore, automated planning was applicable in greater than 97% of cases. The time for treatment planning using the automated process is routinely 5 to 6 minutes on standard commercially available planning hardware. We have shown a consistent reduction in plan rejections from plan reviews through the standard quality control process or weekly quality review multidisciplinary breast rounds as we have automated the planning process for tangential breast IMRT. Clinical plan acceptance increased from 97.3% using our previous semiautomated inverse method to 98.9% using the fully automated method. Conclusions: Automation has become the routine standard method for treatment planning of tangential breast IMRT at our institution and is clinically feasible on a large scale. The method has wide clinical applicability and can add tremendous efficiency, standardization, and quality to the current treatment planning process. The use of automated methods can allow centers to more rapidly adopt IMRT and enhance access to the documented

  20. Individual radiation therapy patient whole-body phantoms for peripheral dose evaluations: method and specific software

    International Nuclear Information System (INIS)

    Alziar, I; Vicente, C; Giordana, G; Ben-Harrath, O; De Vathaire, F; Diallo, I; Bonniaud, G; Couanet, D; Chavaudra, J; Lefkopoulos, D; Ruaud, J B; Diaz, J C; Grandjean, P; Kafrouni, H

    2009-01-01

    This study presents a method aimed at creating radiotherapy (RT) patient-adjustable whole-body phantoms to permit retrospective and prospective peripheral dose evaluations for enhanced patient radioprotection. Our strategy involves virtual whole-body patient models (WBPM) in different RT treatment positions for both genders and for different age groups. It includes a software tool designed to match the anatomy of the phantoms with the anatomy of the actual patients, based on the quality of patient data available. The procedure for adjusting a WBPM to patient morphology includes typical dimensions available in basic auxological tables for the French population. Adjustment is semi-automatic. Because of the complexity of the human anatomy, skilled personnel are required to validate changes made in the phantom anatomy. This research is part of a global project aimed at proposing appropriate methods and software tools capable of reconstituting the anatomy and dose evaluations in the entire body of RT patients in an adapted treatment planning system (TPS). The graphic user interface is that of a TPS adapted to obtain a comfortable working process. Such WBPM have been used to supplement patient therapy planning images, usually restricted to regions involved in treatment. Here we report, as an example, the case of a patient treated for prostate cancer whose therapy planning images were complemented by an anatomy model. Although present results are preliminary and our research is ongoing, they appear encouraging, since such patient-adjusted phantoms are crucial in the optimization of radiation protection of patients and for follow-up studies. (note)

  1. Individual radiation therapy patient whole-body phantoms for peripheral dose evaluations: method and specific software.

    Science.gov (United States)

    Alziar, I; Bonniaud, G; Couanet, D; Ruaud, J B; Vicente, C; Giordana, G; Ben-Harrath, O; Diaz, J C; Grandjean, P; Kafrouni, H; Chavaudra, J; Lefkopoulos, D; de Vathaire, F; Diallo, I

    2009-09-07

    This study presents a method aimed at creating radiotherapy (RT) patient-adjustable whole-body phantoms to permit retrospective and prospective peripheral dose evaluations for enhanced patient radioprotection. Our strategy involves virtual whole-body patient models (WBPM) in different RT treatment positions for both genders and for different age groups. It includes a software tool designed to match the anatomy of the phantoms with the anatomy of the actual patients, based on the quality of patient data available. The procedure for adjusting a WBPM to patient morphology includes typical dimensions available in basic auxological tables for the French population. Adjustment is semi-automatic. Because of the complexity of the human anatomy, skilled personnel are required to validate changes made in the phantom anatomy. This research is part of a global project aimed at proposing appropriate methods and software tools capable of reconstituting the anatomy and dose evaluations in the entire body of RT patients in an adapted treatment planning system (TPS). The graphic user interface is that of a TPS adapted to obtain a comfortable working process. Such WBPM have been used to supplement patient therapy planning images, usually restricted to regions involved in treatment. Here we report, as an example, the case of a patient treated for prostate cancer whose therapy planning images were complemented by an anatomy model. Although present results are preliminary and our research is ongoing, they appear encouraging, since such patient-adjusted phantoms are crucial in the optimization of radiation protection of patients and for follow-up studies.

  2. Individual differences in post radiation regeneration of the bone marrow in nonuniform irradiation (experimental investigation)

    International Nuclear Information System (INIS)

    Kalandarova, M.P.

    1980-01-01

    Reparative regeneration in bone marrow of sternum and iliac bone in each of 20 dogs was studied after single and two-time total X-ray irradiation. Extreme dose rates in bodies differed 5 and 8 times. It was shown that bone marrow repair did not depend on its composition before irradiation. Dogs whose bone narrow was rich of cellular elements before irradiation had both active and sharply reduced bone marrow regeneration after single and two-time irradiation in 0.75-1.45 Gy doses (sternum). Animals with a poor total cellular composition of bone marrow of sternum before irradiation also had differences in the course of reparative processes: in some of them they were considerably pronoUnced and in others bone marrow aplasia lasted for one month. IndiVidual differences in the bone marrow (iliac bone) irradiated with 1.85-3.2 Gy doses were less marked during the reparative regeneration

  3. Weight loss in individuals with metabolic syndrome given DASH diet counseling when provided a low sodium vegetable juice: a randomized controlled trial.

    Science.gov (United States)

    Shenoy, Sonia F; Poston, Walker Sc; Reeves, Rebecca S; Kazaks, Alexandra G; Holt, Roberta R; Keen, Carl L; Chen, Hsin Ju; Haddock, C Keith; Winters, Barbara L; Khoo, Chor San H; Foreyt, John P

    2010-02-23

    Metabolic syndrome, a constellation of metabolic risk factors for type 2 diabetes and cardiovascular disease, is one of the fastest growing disease entities in the world. Weight loss is thought to be a key to improving all aspects of metabolic syndrome. Research studies have suggested benefits from diets rich in vegetables and fruits in helping individuals reach and achieve healthy weights. To evaluate the effects of a ready to serve vegetable juice as part of a calorie-appropriate Dietary Approaches to Stop Hypertension (DASH) diet in an ethnically diverse population of people with Metabolic Syndrome on weight loss and their ability to meet vegetable intake recommendations, and on their clinical characteristics of metabolic syndrome (waist circumference, triglycerides, HDL, fasting blood glucose and blood pressure).A secondary goal was to examine the impact of the vegetable juice on associated parameters, including leptin, vascular adhesion markers, and markers of the oxidative defense system and of oxidative stress. A prospective 12 week, 3 group (0, 8, or 16 fluid ounces of low sodium vegetable juice) parallel arm randomized controlled trial. Participants were requested to limit their calorie intake to 1600 kcals for women and 1800 kcals for men and were educated on the DASH diet. A total of 81 (22 men & 59 women) participants with Metabolic Syndrome were enrolled into the study. Dietary nutrient and vegetable intake, weight, height, leptin, metabolic syndrome clinical characteristics and related markers of endothelial and cardiovascular health were measured at baseline, 6-, and 12-weeks. There were significant group by time interactions when aggregating both groups consuming vegetable juice (8 or 16 fluid ounces daily). Those consuming juice lost more weight, consumed more Vitamin C, potassium, and dietary vegetables than individuals who were in the group that only received diet counseling (p juice into the daily diet can be a simple and effective way to

  4. Weight loss in individuals with metabolic syndrome given DASH diet counseling when provided a low sodium vegetable juice: a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Chen Hsin

    2010-02-01

    Full Text Available Abstract Background Metabolic syndrome, a constellation of metabolic risk factors for type 2 diabetes and cardiovascular disease, is one of the fastest growing disease entities in the world. Weight loss is thought to be a key to improving all aspects of metabolic syndrome. Research studies have suggested benefits from diets rich in vegetables and fruits in helping individuals reach and achieve healthy weights. Objective To evaluate the effects of a ready to serve vegetable juice as part of a calorie-appropriate Dietary Approaches to Stop Hypertension (DASH diet in an ethnically diverse population of people with Metabolic Syndrome on weight loss and their ability to meet vegetable intake recommendations, and on their clinical characteristics of metabolic syndrome (waist circumference, triglycerides, HDL, fasting blood glucose and blood pressure. A secondary goal was to examine the impact of the vegetable juice on associated parameters, including leptin, vascular adhesion markers, and markers of the oxidative defense system and of oxidative stress. Methods A prospective 12 week, 3 group (0, 8, or 16 fluid ounces of low sodium vegetable juice parallel arm randomized controlled trial. Participants were requested to limit their calorie intake to 1600 kcals for women and 1800 kcals for men and were educated on the DASH diet. A total of 81 (22 men & 59 women participants with Metabolic Syndrome were enrolled into the study. Dietary nutrient and vegetable intake, weight, height, leptin, metabolic syndrome clinical characteristics and related markers of endothelial and cardiovascular health were measured at baseline, 6-, and 12-weeks. Results There were significant group by time interactions when aggregating both groups consuming vegetable juice (8 or 16 fluid ounces daily. Those consuming juice lost more weight, consumed more Vitamin C, potassium, and dietary vegetables than individuals who were in the group that only received diet counseling (p

  5. Low Triiodothyronine Syndrome in Patients With Radiation Enteritis: Risk Factors and Clinical Outcomes an Observational Study.

    Science.gov (United States)

    Fan, Shengxian; Ni, Xiaodong; Wang, Jian; Zhang, Yongliang; Tao, Shen; Chen, Mimi; Li, Yousheng; Li, Jieshou

    2016-02-01

    The implications of low triiodothyronine syndrome (LT3S) in patients with radiation enteritis (RE) have not been properly investigated. As such, we conducted this cohort study to investigate the association between LT3S and RE, to explore the etiology of LT3S in RE, to evaluate the clinical features and clinical outcomes of LT3S patients, and to inspect the correlation of clinical variables and LT3S in RE.This prospective study included 39 RE patients. Medical records and various laboratory parameters (including thyroidal, tumorous, nutritional, and radiotherapy variables) were collected in all participants.Our results showed that the incidence of LT3S was 84.6% in patients with RE. Total protein (71.7 ± 5.7 vs 63.2 ± 9.6 g/L, P = 0.04) and albumin (ALB, 46.0 ± 4.6 vs 38.7 ± 5.3 g/L, P = 0.01) were significantly lower in LT3S group compared with those in euthyroid group. Standard thyroid-stimulating hormone index (-0.89 ± 2.11 vs -2.39 ± 1.33, P = 0.03) and sum activity of deiodinases (19.74 ± 4.19 vs 12.55 ± 4.32 nmol/L, P = 0.01) were significantly lower in LT3S group. Patients with LT3S suffered longer duration of hospitalization (48.25 ± 23.29 days in LT3S vs 26.75 ± 10.56 days in euthyroid, P = 0.036). Low serum ALB (β = 0.694, 95% CI = 0.007-0.190, P = 0.037) was the only significant predictor of LT3S.LT3S was common in RE patients. A hypodeiodination condition and a potential pituitary-thyrotroph dysfunction might play a role in the pathophysiology of LT3S in RE. Worse nutritional status and clinical outcomes were confirmed in RE patients with LT3S. Furthermore, total protein and ALB were observed as protective and differentiating parameters of LT3S in RE. In summary, this was the 1st investigation to evaluate the clinical correlation between RE and LT3S, investigate the prevalence of LT3S in RE, and explore the pathogenesis of LT3S, despite the limitation of a

  6. Measurements of individual doses from external radiation in the Brjansk region of the Russian republic of the USSR

    International Nuclear Information System (INIS)

    Wallstroem, E.; Woehni, T.

    1991-01-01

    Individual doses from external photon radiation to various occupational groups in three different villages in the Brjansk region of the Russian republic of the USSR have been measured by individual TL-dosemeters. A total of 86 persons were monitored for a period of 10 days in September 1990, from which 83 dosemeters were returned. The villages had different levels of deposition, but they all belonged to the ''strictly controlled zone'', i.e. deposition levels 555 to 1480 kBq/m 2 (15 to 40 Ci/km 2 ). The results show individual effective dose equivalents during one month in the range 80 to 1000 μSv. Schoolchildren received the lowest doses, and different groups of fields workers the highest. Estimated mean annual effective dose equivalents ranged from 2.0 mSv to 4.6 mSv for the different occupational groups and types of dwellings. Monthly mean effective dose equivalents relative to the reported mean deposition of Cs-137 ranged from 110 (in-door workers in stone houses) to 290 μSv per MBq/m 2 (out-door workers in wooden houses). The reported results are lower than theorectical estimates based on the reported level on contamination. The ratio of the mean effective dose equivalent for persons living in wooden and stone houses ranged from 1.4 to 2.6 for the various villages and occupational groups. 21 refs., 5 figs., 9 tabs

  7. Radiosensitive Down syndrome lymphoblastoid lines have normal ionizing-radiation-induced inhibition of DNA synthesis

    International Nuclear Information System (INIS)

    Ganges, M.B.; Robbins, J.H.; Jiang, H.; Hauser, C.; Tarone, R.E.

    1988-01-01

    The extent of X-ray-induced inhibition of DNA synthesis was determined in radiosensitive lymphoblastoid lines from 3 patients with Down syndrome and 3 patients with ataxia telangiectasia (AT). Compared to 6 normal control lines, the 3 AT lines were abnormally resistant to X-ray-induced inhibition of DNA synthesis, while the 3 Down syndrome lines had normal inhibition. These results demonstrate that radiosensitive human cells can have normal X-ray-induced inhibition of DNA synthesis and provide new evidence for the dissociation of radioresistant DNA synthesis. (author). 27 refs.; 1 fig.; 1 tab

  8. Team versus individual sport participation as a modifying factor in the development of post-concussion syndrome after first concussion: A pilot study.

    Science.gov (United States)

    Jeckell, Aaron S; Brett, Benjamin L; Totten, Douglas J; Solomon, Gary S

    2018-01-19

    Identification of modifying factors that influence the development of post-concussion syndrome (PCS) following sport-related concussion (SRC) has drawn considerable interest. In this pilot study, we investigate the effect of team vs. individual sport participation on the development of PCS in a sample of 136 high school and college student-athletes. Controlling for several confounding variables, we employed a binary logistic regression and chi-squared test. Results of this pilot study indicate that participation in team versus individual sport is not a significant factor in the development of PCS. The identification of other forms of protective mechanisms is discussed.

  9. Diagnostic criterions of the postradiation encephalopathy in remote period of the acute radiation syndrome

    International Nuclear Information System (INIS)

    Nyagu, A.I.; Loganovskij, K.N.; Vashchenko, E.A.

    1998-01-01

    Development of post-radiation encephalopathy diagnostic criteria on the base of neuro psychic, neuro- and psychofisiological research in patients who suffered with acute radiation disease after Chernobyl catastrophe was the aim of this work. 110 persons of 20-75 years age were investigated. 55 refs., 6 tab., 6 figs

  10. Evaluation of heart rate reserve and high-sensitivity C-reactive protein in individuals with and without metabolic syndrome in Isfahan, Iran

    Directory of Open Access Journals (Sweden)

    Yosef Khaledi

    2012-06-01

    Full Text Available    BACKGROUND: Lack of heart rate increase proportionate to exercise causes poor prognosis. Moreover, inflammatory factors such as C-reactive protein (CRP are associated with atherosclerosis. The current study compared these two indices in individuals with and without metabolic syndrome in Isfahan, Iran.    METHODS: This study was performed on 203 people without and 123 patients with metabolic syndrome who were randomly selected from the participants of the Isfahan Cohort Study. The demographic data, waist circumference, blood pressure, height, and weight of the participants were recorded. Moreover, serum triglyceride (TG, fasting blood sugar (FBS, total cholesterol, high density lipoprotein (HDL, low density lipoprotein (LDL, and high-sensitivity CRP (hs-CRP levels were measured. Exercise test was carried out according to the Bruce standard protocol and heart rate reserve (HRR was determined and recorded. The age-adjusted data was analyzed using generalized linear regression and student's t-test in SPSS15.    RESULTS: The mean ages of participants without and with metabolic syndrome were 54.16 ± 8.61 and 54.29 ± 7.6 years, respectively. The corresponding values for mean LDL levels were 116.17 ± 24.04 and 120.12 ± 29.55 mg/dl. TG levels were 140.38 ± 61.65 and 259.99 ± 184.49 mg/dl for subjects without and with the metabolic syndrome, respectively. The mean FBS levels were 81.81 ± 9.90 mg/dl in the participants without the syndrome and 107.13 ± 48.46 mg/dl in those with metabolic syndrome. The mean systolic blood pressure was 116.06 ± 13.69 mmHg in persons without metabolic syndrome and 130.73 ± 15.15 mmHg in patients with the syndrome. The values for mean diastolic levels in the two groups were 76.52 ± 6.69 and 82.84 ± 8.7 mmHg, respectively. While the two groups were not significantly different in terms of HRR (P = 0.27, hs-CRP levels in the metabolic syndrome group was significantly higher than the other group (P = 0.02.

  11. Radiation therapy for Kaposi's sarcoma associated with acquired immunodeficiency syndrome. Tokyo Metropolitan Komagome Hospital experience

    Energy Technology Data Exchange (ETDEWEB)

    Ebara, Takeshi [Municipal Kanbara General Hospital, Fujikawa, Shizuoka (Japan); Karasawa, Katsuyuki; Maebayashi, Katsuya; Kurosaki, Hiromasa; Ishikawa, Hitoshi; Kaizu, Toshihide; Tanaka, Yoshiaki; Akagi, Kumiko; Masuda, Gota

    2000-12-01

    Kaposi's sarcoma is frequently found in association with acquired immunodeficiency syndrome (AIDS). We report on radiotherapy for patients with AIDS-related Kaposi's sarcoma at Tokyo Metropolitan Komagome Hospital. Between April 1991 and May 1997, radiotherapy was given to 11 lesions in eight men with AIDS-related Kaposi's sarcoma to relieve their symptoms. The lesions involved the head and neck region, the legs, and the gastrointestinal tract. Radiotherapy was carried out with 4-MV photon through parallel opposed field or high energy electrons. Total doses ranged from 20 to 38 Gy, with a median of 30 Gy, delivered in 2- to 3-Gy fractions. Four patients were given other treatments prior to the radiotherapy. Acute reaction was evaluated according to the modified acute radiation morbidity scoring criteria of the Radiation Therapy Oncology Group (RTOG). Radiotherapy had relieved the symptoms in all patients at completion of this therapy. Lesions that involved the hard palate and vocal cords had completely disappeared. The lesions that received radiotherapy were controlled without symptoms until the patients died. Patients who had the head and neck region treated exhibited severe acute mucosal reaction (at a dose of 30 Gy, there was grade 2 morbidity by modified RTOG criteria, in two patients, and grade 3 in three patients) although the radiation therapy was completed for these patients. Radiotherapy promises a favorable outcome for symptom relief in AIDS-related Kaposi's sarcoma. (author)

  12. Solubility of hot fuel particles from Chernobyl--influencing parameters for individual radiation dose calculations.

    Science.gov (United States)

    Garger, Evgenii K; Meisenberg, Oliver; Odintsov, Oleksiy; Shynkarenko, Viktor; Tschiersch, Jochen

    2013-10-15

    Nuclear fuel particles of Chernobyl origin are carriers of increased radioactivity (hot particles) and are still present in the atmosphere of the Chernobyl exclusion zone. Workers in the zone may inhale these particles, which makes assessment necessary. The residence time in the lungs and the transfer in the blood of the inhaled radionuclides are crucial for inhalation dose assessment. Therefore, the dissolution of several kinds of nuclear fuel particles from air filters sampled in the Chernobyl exclusion zone was studied. For this purpose filter fragments with hot particles were submersed in simulated lung fluids (SLFs). The activities of the radionuclides (137)Cs, (90)Sr, (239+240)Pu and (241)Am were measured in the SLF and in the residuum of the fragments by radiometric methods after chemical treatment. Soluble fractions as well as dissolution rates of the nuclides were determined. The influence of the genesis of the hot particles, represented by the (137)Cs/(239+240)Pu ratio, on the availability of (137)Cs was demonstrated, whereas the dissolution of (90)Sr, (239+240)Pu and (241)Am proved to be independent of genesis. No difference in the dissolution of (137)Cs and (239+240)Pu was observed for the two applied types of SLF. Increased solubility was found for smaller hot particles. A two-component exponential model was used to describe the dissolution of the nuclides as a function of time. The results were applied for determining individual inhalation dose coefficients for the workers at the Chernobyl construction site. Greater dose coefficients for the respiratory tract and smaller coefficients for the other organs were calculated (compared to ICRP default values). The effective doses were in general lower for the considered radionuclides, for (241)Am even by one order of magnitude. © 2013 Elsevier B.V. All rights reserved.

  13. Consolidating Risk Estimates for Radiation-Induced Complications in Individual Patient: Late Rectal Toxicity

    International Nuclear Information System (INIS)

    Prior, Phillip; Devisetty, Kiran; Tarima, Sergey S.; Lawton, Colleen A.F.; Semenenko, Vladimir A.

    2012-01-01

    Purpose: To test the feasibility of a new approach to synthesize published normal tissue complication data using late rectal toxicity in prostate cancer as an example. Methods and Materials: A data survey was performed to identify the published reports on the dose–response relationships for late rectal toxicity. The risk estimates for Grade 1 or greater, Grade 2 or greater, and Grade 3 or greater toxicity were obtained for a test cohort of patients treated at our institution. The influence of the potential factors that might have affected the reported toxicity levels was investigated. The studies that did not conform to the general data trends were excluded, and single, combined risk estimates were derived for each patient and toxicity level. Results: A total of 21 studies of nonoverlapping patient populations were identified. Three studies provided dose–response models for more than one level of toxicity. Of these 21 studies, 6, 14, and 5 were used to derive the initial risk estimates for Grade 1, 2, and 3 or greater toxicity, respectively. A comparison of risk estimates between the studies reporting rectal bleeding and rectal toxicity (bleeding plus other symptoms) or between studies with follow-up <36 months and ≥36 months did not reveal significant differences (p ≥ .29 for all comparisons). After excluding three reports that did not conform to the general data trends, the combined risk estimates were derived from 5 reports (647 patients), 11 reports (3,369 patients), and 5 reports (1,330 patients) for Grade 1, 2, and 3 or greater toxicity, respectively. Conclusions: The proposed approach is feasible and allows for more systematic use of published dose–response data to estimate the complication risks for the individual patient.

  14. Consolidating Risk Estimates for Radiation-Induced Complications in Individual Patient: Late Rectal Toxicity

    Energy Technology Data Exchange (ETDEWEB)

    Prior, Phillip; Devisetty, Kiran [Department of Radiation Oncology, Medical College of Wisconsin, Milwaukee, WI (United States); Tarima, Sergey S. [Division of Biostatistics, Institute for Health and Society, Medical College of Wisconsin, Milwaukee, WI (United States); Lawton, Colleen A.F. [Department of Radiation Oncology, Medical College of Wisconsin, Milwaukee, WI (United States); Semenenko, Vladimir A., E-mail: vsemenenko@mcw.edu [Department of Radiation Oncology, Medical College of Wisconsin, Milwaukee, WI (United States)

    2012-05-01

    Purpose: To test the feasibility of a new approach to synthesize published normal tissue complication data using late rectal toxicity in prostate cancer as an example. Methods and Materials: A data survey was performed to identify the published reports on the dose-response relationships for late rectal toxicity. The risk estimates for Grade 1 or greater, Grade 2 or greater, and Grade 3 or greater toxicity were obtained for a test cohort of patients treated at our institution. The influence of the potential factors that might have affected the reported toxicity levels was investigated. The studies that did not conform to the general data trends were excluded, and single, combined risk estimates were derived for each patient and toxicity level. Results: A total of 21 studies of nonoverlapping patient populations were identified. Three studies provided dose-response models for more than one level of toxicity. Of these 21 studies, 6, 14, and 5 were used to derive the initial risk estimates for Grade 1, 2, and 3 or greater toxicity, respectively. A comparison of risk estimates between the studies reporting rectal bleeding and rectal toxicity (bleeding plus other symptoms) or between studies with follow-up <36 months and {>=}36 months did not reveal significant differences (p {>=} .29 for all comparisons). After excluding three reports that did not conform to the general data trends, the combined risk estimates were derived from 5 reports (647 patients), 11 reports (3,369 patients), and 5 reports (1,330 patients) for Grade 1, 2, and 3 or greater toxicity, respectively. Conclusions: The proposed approach is feasible and allows for more systematic use of published dose-response data to estimate the complication risks for the individual patient.

  15. Reducing radiation dose in 64-row spiral CT coronary angiography: study based on individualized scan dosage protocol

    International Nuclear Information System (INIS)

    Kang Deqiang; Zhao Jing; Peng Nan; Hua Haiqin; Li Chao; Guo Ying; Shen Yun

    2012-01-01

    Objective: To investigate the methods of reducing radiation dose in CT coronary angiography through optimizing individualized scan dosage protocol. Methods: Two hundred patients (group A) underwent coronary CTA examination which was performed with fixed 120 kV and variable mA according to their BMI. The mA was set as 150-300 mA (BMI < 18.5 kg/m2), 300-500 mA (18.5 kg/m 2 ≤ BMI < 25.0 kg/m 2 ), and 500-800 mA (BMI ≥ 25.0 kg/m 2 ). When all examinations were finished, a linear regression was employed to analyze the correlation between mA and BMI, body surface (Suf), image noise (SD) respectively. The results of the analysis were used to formulate a regression equation, which was further used to establish a table list for quick search on how much mA that individualized coronary CTA scan would need. Another 200 patients (group B) enrolled for the individualized scan were scanned under new protocol that previous study established. The tube voltage was 100 and 120 kV. The tube current was variable according to the data in the table list. One-way ANOVA and Kruskal-wallis H test were used for statistics. Results: Regression equation between mA and BMI, Suf, SD was: mA =17.984 × BMI + 169.149 × Suf-2.282 × SD-361.039. The SD (group A: 32.08 ± 5.80, group B: 28.60±4.47), dose index volume (CTDI vol ) [group A: (41.97 ± 11.37) mGy, group B: (33.18±10.07) mGy], effective dose(ED) [group A: (10.91 ±3.07) mSy, group B: (8.83 ±2.72)mSv] had significant differences between the two groups (F=43.45, 63.71, 49.07 respectively, P<0.01 for all). The SD and ED results obtained in group B were better than those in group A. Conclusion: Better performances were obtained when BMI combined Suf was used as a new individualized protocol than when BMI was used only, which means good image quality and lower radiation dosage in coronary CTA examination. (authors)

  16. Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome

    NARCIS (Netherlands)

    Gorgels, Theo G. M. F.; van der Pluijm, Ingrid; Brandt, Renata M. C.; Garinis, George A.; van Steeg, Harry; van den Aardweg, Gerard; Jansen, Gerard H.; Ruijter, Jan M.; Bergen, Arthur A. B.; van Norren, Dirk; Hoeijmakers, Jan H. J.; van der Horst, Gijsbertus T. J.

    2007-01-01

    Mutations in the CSB gene cause Cockayne syndrome (CS), a DNA repair disorder characterized by UV sensitivity and severe physical and neurological impairment. CSB functions in the transcription-coupled repair subpathway of nucleotide excision repair. This function may explain the UV sensitivity but

  17. LINE-1 methylation in visceral adipose tissue of severely obese individuals is associated with metabolic syndrome status and related phenotypes

    Directory of Open Access Journals (Sweden)

    Turcot Valérie

    2012-07-01

    Full Text Available Abstract Background Epigenetic mechanisms may be involved in the regulation of genes found to be differentially expressed in the visceral adipose tissue (VAT of severely obese subjects with (MetS+ versus without (MetS- metabolic syndrome (MetS. Long interspersed nuclear element 1 (LINE-1 elements DNA methylation levels (%meth in blood, a marker of global DNA methylation, have recently been associated with fasting glucose, blood lipids, heart diseases and stroke. Aim To test whether LINE-1%meth levels in VAT are associated with MetS phenotypes and whether they can predict MetS risk in severely obese individuals. Methods DNA was extracted from VAT of 34 men (MetS-: n = 14, MetS+: n = 20 and 152 premenopausal women (MetS-: n = 84; MetS+: n = 68 undergoing biliopancreatic diversion for the treatment of obesity. LINE-1%meth levels were assessed by pyrosequencing of sodium bisulfite-treated DNA. Results The mean LINE-1%meth in VAT was of 75.8% (SD = 3.0%. Multiple linear regression analyses revealed that LINE-1%meth was negatively associated with fasting glucose levels (β = -0.04; P = 0.03, diastolic blood pressure (β =  -0.65; P = 0.03 and MetS status (β = -0.04; P = 0.004 after adjustments for the effects of age, sex, waist circumference (except for MetS status and smoking. While dividing subjects into quartiles based on their LINE-1%meth (Q1 to Q4: lower %meth to higher %meth levels, greater risk were observed in the first (Q1: odds ratio (OR = 4.37, P = 0.004 and the second (Q2: OR = 4.76, P = 0.002 quartiles compared to Q4 (1.00 when adjusting for age, sex and smoking. Conclusions These results suggest that lower global DNA methylation, assessed by LINE-1 repetitive elements methylation analysis, would be associated with a greater risk for MetS in the presence of obesity.

  18. Dietary sorbitol and mannitol: food content and distinct absorption patterns between healthy individuals and patients with irritable bowel syndrome.

    Science.gov (United States)

    Yao, C K; Tan, H-L; van Langenberg, D R; Barrett, J S; Rose, R; Liels, K; Gibson, P R; Muir, J G

    2014-04-01

    Sorbitol and mannitol are naturally-occurring polyol isomers. Although poor absorption and induction of gastrointestinal symptoms by sorbitol are known, the properties of mannitol are poorly described. We aimed to expand data on food composition of these polyols, and to compare their absorptive capacities and symptom induction in patients with irritable bowel syndrome (IBS) and healthy individuals. Food samples were analysed for sorbitol and mannitol content. The degree of absorption measured by breath hydrogen production and gastrointestinal symptoms (visual analogue scales) was evaluated in a randomised, double-blinded, placebo-controlled study in 21 healthy and 20 IBS subjects after challenges with 10 g of sorbitol, mannitol or glucose. Certain fruits and sugar-free gum contained sorbitol, whereas mannitol content was higher in certain vegetables. Similar proportions of patients with IBS (40%) and healthy subjects (33%) completely absorbed sorbitol, although more so with IBS absorbed mannitol (80% versus 43%; P = 0.02). Breath hydrogen production was similar in both groups after lactulose but was reduced in patients with IBS after both polyols. No difference in mean (SEM) hydrogen production was found in healthy controls after sorbitol [area-under-the-curve: 2766 (591) ppm 4 h(-1) ] or mannitol [2062 (468) ppm 4 h(-1) ] but, in patients with IBS, this was greater after sorbitol [1136 (204) ppm 4 h(-1) ] than mannitol [404 (154) ppm 4 h(-1) ; P = 0.002]. Overall gastrointestinal symptoms increased significantly after both polyols in patients with IBS only, although they were independent of malabsorption of either of the polyols. Increased and discordant absorption of mannitol and sorbitol occurs in patients with IBS compared to that in healthy controls. Polyols induced gastrointestinal symptoms in patients with IBS independently of their absorptive patterns, suggesting that the dietary restriction of polyols may be efficacious. © 2013 The

  19. Modularity of action programs in normal and Down syndrome individual / Modularidade de programas de ação em indivíduos normais e portadores da síndrome de Down

    Directory of Open Access Journals (Sweden)

    Roberto Gimenez

    2006-01-01

    Full Text Available Motor skills are represented as abstract form by action programs that once formed constitutes modules that ease the demand of motor control in complex tasks. The present study investigated whether modules are formed in the acquisition of motor skills in normal individuals and individuals with Down syndrome. Twelve individuals took part in the study, they were assigned equally to three groups: children, adults and adults with Down syndrome. They practiced the manual reproduction of a graphic pattern composed by five linear strokes that was added to another graphic pattern after 100 trials. Down syndrome individuals had difficult to form modules and their performance was similar to that of the children. The lack of modularity in the behavior of Down syndrome individuals may explain the difficulty they face many times while performing motor skills.

  20. Guillain–Barre syndrome following quadrivalent human papillomavirus vaccination among vaccine-eligible individuals in the United States

    Science.gov (United States)

    Ojha, Rohit P; Jackson, Bradford E; Tota, Joseph E; Offutt-Powell, Tabatha N; Singh, Karan P; Bae, Sejong

    2014-01-01

    Post-marketing surveillance studies provide conflicting evidence about whether Guillain–Barre syndrome occurs more frequently following quadrivalent human papillomavirus (HPV4) vaccination. We aimed to assess whether Guillain–Barre syndrome is reported more frequently following HPV4 vaccination than other vaccinations among females and males aged 9 to 26 y in the United States. We used adverse event reports received by the United States Vaccine Adverse Event Reporting System (VAERS) between January 1, 2010 and December 31, 2012 to estimate overall, age-, and sex-specific proportional reporting ratios (PRRs) and corresponding Χ2 values for reports of Guillain–Barre syndrome between 5 and 42 d following HPV vaccination. Minimum criteria for a signal using this approach are 3 or more cases, PRR ≥2, and Χ2 ≥ 4. Guillain–Barre syndrome was listed as an adverse event in 45 of 14 822 reports, of which 9 reports followed HPV4 vaccination and 36 reports followed all other vaccines. The overall, age-, and sex-specific PRR estimates were uniformly below 1. In addition, the overall, age-, and sex-specific Χ2 values were uniformly below 3. Our analysis of post-marketing surveillance data does not suggest that Guillain–Barre syndrome is reported more frequently following HPV4 vaccination than other vaccinations among vaccine-eligible females or males in the United States. Our findings may be useful when discussing the risks and benefits of HPV4 vaccination. PMID:24013368

  1. Guillain-Barre syndrome following quadrivalent human papillomavirus vaccination among vaccine-eligible individuals in the United States.

    Science.gov (United States)

    Ojha, Rohit P; Jackson, Bradford E; Tota, Joseph E; Offutt-Powell, Tabatha N; Singh, Karan P; Bae, Sejong

    2014-01-01

    Post-marketing surveillance studies provide conflicting evidence about whether Guillain-Barre syndrome occurs more frequently following quadrivalent human papillomavirus (HPV4) vaccination. We aimed to assess whether Guillain-Barre syndrome is reported more frequently following HPV4 vaccination than other vaccinations among females and males aged 9 to 26 y in the United States. We used adverse event reports received by the United States Vaccine Adverse Event Reporting System (VAERS) between January 1, 2010 and December 31, 2012 to estimate overall, age-, and sex-specific proportional reporting ratios (PRRs) and corresponding Χ2 values for reports of Guillain-Barre syndrome between 5 and 42 d following HPV vaccination. Minimum criteria for a signal using this approach are 3 or more cases, PRR≥2, and Χ2≥4. Guillain-Barre syndrome was listed as an adverse event in 45 of 14,822 reports, of which 9 reports followed HPV4 vaccination and 36 reports followed all other vaccines. The overall, age-, and sex-specific PRR estimates were uniformly below 1. In addition, the overall, age-, and sex-specific Χ2 values were uniformly below 3. Our analysis of post-marketing surveillance data does not suggest that Guillain-Barre syndrome is reported more frequently following HPV4 vaccination than other vaccinations among vaccine-eligible females or males in the United States. Our findings may be useful when discussing the risks and benefits of HPV4 vaccination.

  2. Individualized Positron Emission Tomography–Based Isotoxic Accelerated Radiation Therapy Is Cost-Effective Compared With Conventional Radiation Therapy: A Model-Based Evaluation

    Energy Technology Data Exchange (ETDEWEB)

    Bongers, Mathilda L., E-mail: ml.bongers@vumc.nl [Department of Epidemiology and Biostatistics, VU University Medical Center, Amsterdam (Netherlands); Coupé, Veerle M.H. [Department of Epidemiology and Biostatistics, VU University Medical Center, Amsterdam (Netherlands); De Ruysscher, Dirk [Radiation Oncology University Hospitals Leuven/KU Leuven, Leuven (Belgium); Department of Radiation Oncology, GROW Research Institute, Maastricht University Medical Center, Maastricht (Netherlands); Oberije, Cary; Lambin, Philippe [Department of Radiation Oncology, GROW Research Institute, Maastricht University Medical Center, Maastricht (Netherlands); Uyl-de Groot, Cornelia A. [Department of Epidemiology and Biostatistics, VU University Medical Center, Amsterdam (Netherlands); Institute for Medical Technology Assessment, Erasmus University Rotterdam, Rotterdam (Netherlands)

    2015-03-15

    Purpose: To evaluate long-term health effects, costs, and cost-effectiveness of positron emission tomography (PET)-based isotoxic accelerated radiation therapy treatment (PET-ART) compared with conventional fixed-dose CT-based radiation therapy treatment (CRT) in non-small cell lung cancer (NSCLC). Methods and Materials: Our analysis uses a validated decision model, based on data of 200 NSCLC patients with inoperable stage I-IIIB. Clinical outcomes, resource use, costs, and utilities were obtained from the Maastro Clinic and the literature. Primary model outcomes were the difference in life-years (LYs), quality-adjusted life-years (QALYs), costs, and the incremental cost-effectiveness and cost/utility ratio (ICER and ICUR) of PET-ART versus CRT. Model outcomes were obtained from averaging the predictions for 50,000 simulated patients. A probabilistic sensitivity analysis and scenario analyses were carried out. Results: The average incremental costs per patient of PET-ART were €569 (95% confidence interval [CI] €−5327-€6936) for 0.42 incremental LYs (95% CI 0.19-0.61) and 0.33 QALYs gained (95% CI 0.13-0.49). The base-case scenario resulted in an ICER of €1360 per LY gained and an ICUR of €1744 per QALY gained. The probabilistic analysis gave a 36% probability that PET-ART improves health outcomes at reduced costs and a 64% probability that PET-ART is more effective at slightly higher costs. Conclusion: On the basis of the available data, individualized PET-ART for NSCLC seems to be cost-effective compared with CRT.

  3. Plasma plasminogen activator inhibitor-1 levels and nonalcoholic fatty liver in individuals with features of metabolic syndrome.

    Science.gov (United States)

    de Larrañaga, Gabriela; Wingeyer, Silvia Perés; Graffigna, Mabel; Belli, Susana; Bendezú, Karla; Alvarez, Silvia; Levalle, Oscar; Fainboim, Hugo

    2008-07-01

    Fatty liver represents the liver component of metabolic syndrome and may be involved in plasminogen activator inhibitor-1 (PAI-1) synthesis. We studied plasma PAI-1 levels and relationships with risk factors for metabolic syndrome, including fatty liver, in 170 patients. Liver ultrasound scan was performed on all patients, and a liver biopsy was performed on those patients with chronically elevated transaminase levels. Plasma PAI-1 levels correlated significantly (P < .05) with body mass index, degree of steatosis, insulin resistance, insulin level, waist circumference, triglycerides, and high-density lipoprotein (HDL) -cholesterol. However, only body mass index (beta = .455) and HDL-cholesterol (beta = .293) remained predictors of PAI-1 levels. Liver biopsy revealed a significant correlation (P < .05) between insulin resistance (r = 0.381) or insulin level (r = 0.519) and liver fibrosis. In patients presenting features of metabolic syndrome, plasma PAI-1 levels were mainly conditioned by the whole-body fat content.

  4. Cardiovascular system and physical working capacity in patients who had acute radiation syndrome as the result of Chernobyl accident

    International Nuclear Information System (INIS)

    Belyi, D.; Gergel, O.; Kovalenko, A.

    1996-01-01

    The functional state of cardiovascular system has been studied since 1986 in 168 patients who had acute radiation syndrome as the result of Chernobyl accident. There was revealed a progressive increase of cardiovascular system pathology. The number of patients with pathological signs at ECG increased from 4.8 % in 1987 to 11.3 % in 1994 and with myocardial hypertrophy from 1.2 % to 22.6 %. The number of patients with coronary heart disease increased on 17.2% and with essential hypertension on 15.5%. The physical working capacity reduced to 50-60 % of a due level for healthy persons. Two patients suffered from acute myocardial infarction during this period of observation. Thirteenth patients died from 1987 to 1995. Among them 4 patient died in a result of acute cardiac failure. The development of cardiovascular pathology has no any correlation with a dose of exposure. Three factors of cardiovascular pathology growth are supposed

  5. Primary and secondary antibody reaction to acute radiation syndrome of calves after parenteral and oral immunization with Salmonella antigen

    International Nuclear Information System (INIS)

    Koch, F.; Mehlhorn, G.; Johannsen, U.; Panndorf, H.

    1984-01-01

    After active immunization against Salmonella dublin 25 calves (2.5 to 4 weeks old) were whole-body irradiated with sublethal to medium lethal X-ray doses, with 5 sham-irradiated control animals in each group. Sublethal and medium lethal doses failed in affecting the antibody titers in general, though short-time effects were observed temporarily. These depressive effects correlated with clinical responses, especially with reduced food intake probably caused by nutritive disorders. Higher antibody levels in the recovery period following sublethal and medium lethal doses indicate an antigenic stimulation released by the radiation syndrome. The depressive action of medium lethal doses on the booster response on the 30th postirradiation day refers to damage of the memory cell pool

  6. Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.

    Science.gov (United States)

    Calcagni, Giulio; Baban, Anwar; De Luca, Enrica; Leonardi, Benedetta; Pongiglione, Giacomo; Digilio, Maria Cristina

    2016-03-01

    Noonan syndrome (NS) is the second most frequent hereditary syndrome with cardiac involvement. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most prevalent cardiovascular abnormalities. We report on a 14-year-old girl with NS due to SOS1 mutation with pulmonary stenosis and idiopathic coronary ectasia. To the best of our knowledge, this is the first report describing coronary ectasia in a patient with NS secondary to a SOS1 mutation. We include a literature review of this rare association. © 2015 Wiley Periodicals, Inc.

  7. Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome.

    Science.gov (United States)

    Glueckert, Rudolf; Rask-Andersen, Helge; Sergi, Consolato; Schmutzhard, Joachim; Mueller, Bert; Beckmann, Felix; Rittinger, Olaf; Hoefsloot, Lies H; Schrott-Fischer, Anneliese; Janecke, Andreas R

    2010-03-01

    CHARGE (Coloboma of the iris or retina, heart defects, atresia of the choanae, retardation of growth and/or development, genital anomalies, ear anomalies) syndrome (OMIM #214800) affects about 1 in 10,000 children and is most often caused by chromodomain helicase DNA-binding protein-7 (CHD7) mutations. Inner ear defects and vestibular abnormalities are particularly common. Specifically, semicircular canal (SCC) hypoplasia/aplasia and the presence of a Mondini malformation can be considered pathognomonic in the context of congenital malformations of the CHARGE syndrome. We obtained a temporal bone (TB) of a patient with CHARGE syndrome who died from bacteremia at 3 months of age. The clinical diagnosis was confirmed in the patient by direct DNA sequencing and the detection of a de novo, truncating CHD7 mutation, c.6169dup (p.R2057fs). We assessed changes of the TB and the degree of neural preservation, which may influence the potential benefit of cochlear implantation. The TB was analyzed using synchrotron radiation-based micro computed tomography, and by light microscopy. The vestibular partition consisted of a rudimentary vestibule with agenesis of the SCCs. The cochlea was hypoplastic with poor or deficient interscaling and shortened (Mondini dysplasia). The organ of Corti had near normal structure and innervation. Modiolus and Rosenthal's canal were hypoplastic with perikarya displaced along the axon bundles into the internal acoustic meatus, which may be explained by the arrest or limited migration and translocation of the cell nuclei into the cochlear tube during development. (c) 2010 Wiley-Liss, Inc.

  8. Healthy Nordic diet downregulates the expression of genes involved in inflammation in subcutaneous adipose tissue in individuals with features of the metabolic syndrome

    DEFF Research Database (Denmark)

    Kolehmainen, Marjukka; Ulven, Stine M; Paananen, Jussi

    2015-01-01

    BACKGROUND: Previously, a healthy Nordic diet (ND) has been shown to have beneficial health effects close to those of Mediterranean diets. OBJECTIVE: The objective was to explore whether the ND has an impact on gene expression in abdominal subcutaneous adipose tissue (SAT) and whether changes...... in gene expression are associated with clinical and biochemical effects. DESIGN: Obese adults with features of the metabolic syndrome underwent an 18- to 24-wk randomized intervention study comparing the ND with the control diet (CD) (the SYSDIET study, carried out within Nordic Centre of Excellence...... sites for the nuclear transcription factor κB. CONCLUSION: A healthy Nordic diet reduces inflammatory gene expression in SAT compared with a control diet independently of body weight change in individuals with features of the metabolic syndrome. The study was registered at clinicaltrials.gov as NCT...

  9. Spatial-Simultaneous and Spatial-Sequential Working Memory in Individuals with Down Syndrome: The Effect of Configuration

    Science.gov (United States)

    Carretti, Barbara; Lanfranchi, Silvia; Mammarella, Irene C.

    2013-01-01

    Earlier research showed that visuospatial working memory (VSWM) is better preserved in Down syndrome (DS) than verbal WM. Some differences emerged, however, when VSWM performance was broken down into its various components, and more recent studies revealed that the spatial-simultaneous component of VSWM is more impaired than the spatial-sequential…

  10. Epilepsy in Individuals with a History of Asperger's Syndrome: A Danish Nationwide Register-Based Cohort Study

    Science.gov (United States)

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2013-01-01

    We performed a nationwide, register-based retrospective follow-up study of epilepsy in all people who were born between January 1, 1980 and June 29, 2006 and registered in the Danish Psychiatric Central Register with Asperger's syndrome on February 7, 2011. All 4,180 identified cases with AS (3,431 males and 749 females) were screened through the…

  11. Infectious risk factors for individual postweaning multisystemic wasting syndrome (PMWS) development in pigs from affected farms in Spain and Denmark

    DEFF Research Database (Denmark)

    Grau-Roma, Llorenç; Stockmarr, Anders; Kristensen, Charlotte S.

    2012-01-01

    collected serum samples to detect antibodies against, PCV2, porcine reproductive and respiratory syndrome virus (PRRSV), porcine parvovirus (PPV), swine influenza virus (SIV) and Lawsonia intracellularis (law), Mycoplasma hyopneumoniae, Aujeszky’s disease virus (ADV) and Salmonella spp. A Cox proportional...

  12. Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system

    NARCIS (Netherlands)

    de Winter, Channa F.; Baas, Melanie; Bijlsma, Emilia K.; van Heukelingen, John; Routledge, Sue; Hennekam, Raoul C. M.

    2016-01-01

    Pitt-Hopkins syndrome (PTHS; MIM# 610954) is a genetically determined entity mainly caused by mutations in TransCription Factor 4 (TCF4). We have developed a new way to collect information on (ultra-)rare disorders through a web-based database which we call 'waihonapedia' (waihona [meaning treasure

  13. Indicators of theory of mind in narrative production : a comparison between individuals with genetic syndromes and typically developing children

    NARCIS (Netherlands)

    Lorusso, M. L.; Galli, R.; Libera, L.; Gagliardi, C.; Borgatti, R.; Hollebrandse, B.

    It is a matter of debate whether the development of theory of mind (ToM) depends on linguistic development or is, rather, an expression of cognitive development. The study of genetic syndromes, which are characterized by intellectual impairment as well as by different linguistic profiles, may

  14. An Individual with Gilles de la Tourette Syndrome and Smith-Magenis Microdeletion Syndrome: Is Chromosome 17p11.2 a Candidate Region for Tourette Syndrome Putative Susceptibility Genes?

    Science.gov (United States)

    Shelley, B. P.; Robertson, M. M.; Turk, J.

    2007-01-01

    This is the first published case description in the current literature of the association of definite Gilles de la Tourette syndrome (GTS) and the Smith-Magenis syndrome (SMS), both confirmed by DSM-IV-TR criteria and molecular cytogenetic analysis, respectively. The co-occurrence of GTS, SMS and their common behavioural/neuropsychiatric…

  15. Individualized Prediction of Overall Survival After Postoperative Radiation Therapy in Patients With Early-Stage Cervical Cancer: A Korean Radiation Oncology Group Study (KROG 13-03)

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hyun Jin [Department of Radiation Oncology, Asan Medical Center, University of Ulsan, College of Medicine, Seoul (Korea, Republic of); Han, Seungbong [Department of Clinical Epidemiology and Biostatistics, Asan Medical Center, University of Ulsan, College of Medicine, Seoul (Korea, Republic of); Kim, Young Seok, E-mail: ysk@amc.seoul.kr [Department of Radiation Oncology, Asan Medical Center, University of Ulsan, College of Medicine, Seoul (Korea, Republic of); Nam, Joo-Hyun [Department of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan, College of Medicine, Seoul (Korea, Republic of); Kim, Hak Jae [Department of Radiation Oncology, Seoul National University Hospital, Seoul (Korea, Republic of); Kim, Jae Weon [Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul (Korea, Republic of); Park, Won [Department of Radiation Oncology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of); Kim, Byoung-Gie [Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of); Kim, Jin Hee [Department of Radiation Oncology, Dongsan Medical Center, Keimyung University School of Medicine, Daegu (Korea, Republic of); Cha, Soon Do [Department of Obstetrics and Gynecology, Dongsan Medical Center, Keimyung University School of Medicine, Daegu (Korea, Republic of); Kim, Juree [Department of Radiation Oncology, Cheil General Hospital and Women' s Healthcare Center, Kwandong University, College of Medicine, Seoul (Korea, Republic of); Lee, Ki-Heon [Department of Obstetrics and Gynecology, Cheil General Hospital and Women' s Healthcare Center, Kwandong University, College of Medicine, Seoul (Korea, Republic of); Yoon, Mee Sun [Department of Radiation Oncology, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Jeollanam-do (Korea, Republic of); and others

    2013-11-15

    Purpose: A nomogram is a predictive statistical model that generates the continuous probability of a clinical event such as death or recurrence. The aim of the study was to construct a nomogram to predict 5-year overall survival after postoperative radiation therapy for stage IB to IIA cervical cancer. Methods and Materials: The clinical data from 1702 patients with early-stage cervical cancer, treated at 10 participating hospitals from 1990 to 2011, were reviewed to develop a prediction nomogram based on the Cox proportional hazards model. Demographic, clinical, and pathologic variables were included and analyzed to formulate the nomogram. The discrimination and calibration power of the model was measured using a concordance index (c-index) and calibration curve. Results: The median follow-up period for surviving patients was 75.6 months, and the 5-year overall survival probability was 87.1%. The final model was constructed using the following variables: age, number of positive pelvic lymph nodes, parametrial invasion, lymphovascular invasion, and the use of concurrent chemotherapy. The nomogram predicted the 5-year overall survival with a c-index of 0.69, which was superior to the predictive power of the International Federation of Gynecology and Obstetrics (FIGO) staging system (c-index of 0.54). Conclusions: A survival-predicting nomogram that offers an accurate level of prediction and discrimination was developed based on a large multi-center study. The model may be more useful than the FIGO staging system for counseling individual patients regarding prognosis.

  16. Individualized Prediction of Overall Survival After Postoperative Radiation Therapy in Patients With Early-Stage Cervical Cancer: A Korean Radiation Oncology Group Study (KROG 13-03)

    International Nuclear Information System (INIS)

    Lee, Hyun Jin; Han, Seungbong; Kim, Young Seok; Nam, Joo-Hyun; Kim, Hak Jae; Kim, Jae Weon; Park, Won; Kim, Byoung-Gie; Kim, Jin Hee; Cha, Soon Do; Kim, Juree; Lee, Ki-Heon; Yoon, Mee Sun

    2013-01-01

    Purpose: A nomogram is a predictive statistical model that generates the continuous probability of a clinical event such as death or recurrence. The aim of the study was to construct a nomogram to predict 5-year overall survival after postoperative radiation therapy for stage IB to IIA cervical cancer. Methods and Materials: The clinical data from 1702 patients with early-stage cervical cancer, treated at 10 participating hospitals from 1990 to 2011, were reviewed to develop a prediction nomogram based on the Cox proportional hazards model. Demographic, clinical,