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Sample records for wilson disease patients

  1. Procedural learning changes in patients with Wilson's disease

    Institute of Scientific and Technical Information of China (English)

    Yumei Jiang; Xiang Shen; Xiaoping Wang; Wenjie Li

    2011-01-01

    In the present study, we compared explicit memory performance, using the Wechsler Memory Scale, and implicit memory performance, using the Nissen software version of the serial reaction time task, in patients with Wilson's disease to normal controls. The Wilson's disease patients exhibited deficits in explicit memory tasks, such as figure recall and understanding memory. Moreover, the Wilson's disease patients exhibited deficits in implicit memory tasks, including significantly prolonged response times. These findings indicate that Wilson's disease patients have explicit and implicit partial memory impairments.

  2. Clinical presentation and mutations in Danish patients with Wilson disease

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49¿500. Among routinely used diagnostic tests, none were...

  3. Clinical presentation and mutations in Danish patients with Wilson disease

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were...

  4. Wilson's Disease

    Science.gov (United States)

    ... yellowing of the skin and the whites of the eye (jaundice) Golden-brown eye discoloration (Kayser-Fleischer rings) Fluid buildup ... is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit one copy of the ...

  5. Wilson's Disease Association International

    Science.gov (United States)

    ... of Colorado and graduated with a B.S. in finance. Latest News & Announcements Search Our Site About WDA ... Help Donate Volunteer Shop Online Search the Internet Corporate Sponsorship Marketplace Copyright © 1978 - 2017 The Wilson Disease ...

  6. Hypopituitarism Presenting as Adrenal Insufficiency and Hypothyroidism in a Patient with Wilson's Disease: a Case Report.

    Science.gov (United States)

    Lee, Hae Won; Kang, Jin Du; Yeo, Chang Woo; Yoon, Sung Woon; Lee, Kwang Jae; Choi, Mun Ki

    2016-08-01

    Wilson's disease typically presents symptoms associated with liver damage or neuropsychiatric disturbances, while endocrinologic abnormalities are rare. We report an unprecedented case of hypopituitarism in a patient with Wilson's disease. A 40-year-old woman presented with depression, general weakness and anorexia. Laboratory tests and imaging studies were compatible with liver cirrhosis due to Wilson's disease. Basal hormone levels and pituitary function tests indicated secondary hypothyroidism and adrenal insufficiency due to hypopituitarism. Brain MRI showed T2 hyperintense signals in both basal ganglia and midbrain but the pituitary imaging was normal. She is currently receiving chelation therapy along with thyroid hormone and steroid replacement. There may be a relationship between Wilson's disease and hypopituitarism. Copper deposition or secondary neuronal damage in the pituitary may be a possible explanation for this theory.

  7. Wilson Disease: Case Report

    Directory of Open Access Journals (Sweden)

    Esra Tuğ

    2007-01-01

    Full Text Available Wilson Disease (WD is an autosomal recessive hereditary disease of human copper metabolism, which causes hepatic and neuropsychiatric diseases. Estimated prevalence is 1: 30.000. In WD, ATP7B gene located on chromosome 13 (13q14.3-q21.1, coding the protein for hepatic copper transport and, having an important role in copper metabolism has been affected. Clinical findings in WD are complex and, neurological symptoms such as tremor, disartria and psychiatric disorders, acute liver deficiency, chronic hepatit or cirrhosis may develop. For the last year, 27 years old female patient observed in other medical centre owing to benign positional vertigo applied to our department. Her sister and brother have been diagnosed as WD. No peripheral syptoms of hepatic disease or hepatosplenomegaly existed in our patient. Neurological examination was normal to except for positional tremor. Because our patient had rare clinical features for WD and bad prognosis, presented by us to emphasize necessity of the researched of the most frequent mutations seen in Turkiye.

  8. Update on Wilson disease.

    Science.gov (United States)

    Aggarwal, Annu; Bhatt, Mohit

    2013-01-01

    Wilson disease (WD) is an inherited disorder of chronic copper toxicosis characterized by excessive copper deposition in the body, primarily in the liver and the brain. It is a progressive disease and fatal if untreated. Excessive copper accumulation results from the inability of liver to excrete copper in bile. Copper is an essential trace metal and has a crucial role in many metabolic processes. Almost all of the body copper is protein bound. In WD, the slow but relentless copper accumulation overwhelms the copper chaperones (copper-binding proteins), resulting in high levels of free copper and copper-induced tissue injury. Liver is the central organ for copper metabolism, and copper is initially accumulated in the liver but over time spills to other tissues. WD has protean clinical manifestations mainly attributable to liver, brain, and osseomuscular impairment. Diagnosis of WD is challenging and based on combination of clinical features and laboratory tests. Identification of various high-frequency mutations identified in different population studies across the world has revived interest in developing DNA chips for rapid genetic diagnosis of WD. All symptomatic and all presymptomatic patients require lifelong decoppering with careful clinical tracking. Decoppering ensures that presymptomatic individuals remain symptom free. With judicious decoppering, given time, even patients with severe neurological disability improve and can return to normal life and resume school or work at par with their peers. Treatment regimens and tracking patients using the WD-specific Global Assessment Scale for WD (GAS for WD) are discussed. © 2013 Elsevier Inc. All rights reserved.

  9. Inhibitory rTMS applied on somatosensory cortex in Wilson's disease patients with hand dystonia.

    Science.gov (United States)

    Lozeron, Pierre; Poujois, Aurélia; Meppiel, Elodie; Masmoudi, Sana; Magnan, Thierry Peron; Vicaut, Eric; Houdart, Emmanuel; Guichard, Jean-Pierre; Trocello, Jean-Marc; Woimant, France; Kubis, Nathalie

    2017-10-01

    Hand dystonia is a common complication of Wilson's disease (WD), responsible for handwriting difficulties and disability. Alteration of sensorimotor integration and overactivity of the somatosensory cortex have been demonstrated in dystonia. This study investigated the immediate after effect of an inhibitory repetitive transcranial magnetic stimulation (rTMS) applied over the somatosensory cortex on the writing function in WD patients with hand dystonia. We performed a pilot prospective randomized double-blind sham-controlled crossover rTMS study. A 20-min 1-Hz rTMS session, stereotaxically guided, was applied over the left somatosensory cortex in 13 WD patients with right dystonic writer's cramp. After 3 days, each patient was crossed-over to the alternative treatment. Patients were clinically evaluated before and immediately after each rTMS session with the Unified Wilson's Disease rating scale (UWDRS), the Writers' Cramp Rating Scale (WCRS), a specifically designed scale for handwriting difficulties in Wilson's disease patients (FAR, flow, accuracy, and rhythmicity evaluation), and a visual analog scale (VAS) for handwriting discomfort. No significant change in UWDRS, WCRS, VAS, or FAR scores was observed in patients treated with somatosensory inhibitory rTMS compared to the sham protocol. The FAR negatively correlated with UWDRS (r = -0.6; P = 0.02), but not with the WCRS score, disease duration, MRI diffusion lesions, or with atrophy scores. In our experimental conditions, a single inhibitory rTMS session applied over somatosensory cortex did not improve dystonic writer cramp in WD patients.

  10. Regional cerebral glucose consumption measured by positron emission tomography in patients with Wilson's disease

    International Nuclear Information System (INIS)

    Kuwert, T.; Scholz, D.; Milz, M.; Herzog, H.; Feinendegen, L.E.; Hefter, H.; Weiss, P.; Arendt, G.; Loken, M.; Minnesota Univ., Minneapolis, MN; Hennerici, M.

    1992-01-01

    Using positron emission tomography (PET), the regional cerebral metabolic rate of glucose consumption (rCMRGlc) was measured in 14 patients with Wilson's disease (WD) and 23 normal subjects. In WD patients, cerebellar, striatal and - to a lesser extent - cortical and thalamic rCMRGlc were significantly decreased compared with controls. Striatal rCMRGlc was significantly reduced in those 4 patients who had recently started decoppering therapy as compared with striatal rCMRGlc measured in those 10 patients with longer duration of medication. Caudate rCMRGlc correlated significantly with various signs of extrapyramidal dysfunction. Cerebellar, thalamic and cortical rCMRGlc correlated significantly with the severity of pyramidal signs. These data indicate that the PET measurement of rCMRGlc may be a useful tool to evaluate cerebral involvement in WD and to monitor the response to treatment. (orig.)

  11. Liver transplantation for Wilson disease.

    Science.gov (United States)

    Catana, Andreea M; Medici, Valentina

    2012-01-27

    The aim of this paper is to review the current status of liver transplantation (LT) for Wilson disease (WD), focusing on indications and controversies, especially in patients with neuropsychiatric disease, and on identification of acute liver failure (ALF) cases related to WD. LT remains the treatment of choice for patients with ALF, as initial presentation of WD or when anti-copper agents are stopped, and for patients with chronic liver disease progressed to cirrhosis, unresponsive to chelating medications or not timely treated with copper chelating agents. The indication for LT in WD remains highly debated in patients with progressive neurological deterioration and failure to improve with appropriate medical treatment. In case of Wilsonian ALF, early identification is key as mortality is 100% without emergency LT. As many of the copper metabolism parameters are believed to be less reliable in ALF, simple biochemical tests have been proposed for diagnosis of acute WD with good sensitivity and specificity. LT corrects copper metabolism and complications resulting from WD with excellent 1 and 5 year survival. Living related liver transplantation represents an alternative to deceased donor LT with excellent long-term survival, without disease recurrence. Future options may include hepatocyte transplantation and gene therapy. Although both of these have shown promising results in animal models of WD, prospective human studies are much needed to demonstrate their long-term beneficial effects and their potential to replace the need for medical therapy and LT in patients with WD.

  12. Cranial MRI in Wilson's disease

    International Nuclear Information System (INIS)

    Prayer, L.; Grimm, G.

    1990-01-01

    Thirty-eight patients with biochemically proven Wilson's disease underwent magnetic resonanceimaging (MRI) of the brain as well as neurological examinations. The patients were scanned using spin-echo (SE) sequences; the neurologist was looking for typical symptoms: Dysarthria, tremor, ataxia, rigidity/bradykinesia and chorea/dystonia. Pathological MR findings believed secondary to this uncommon inherited disorder of copper metabolism were found in twenty-two subjects. Focal abnormalities were seen in the lenticular, thalamic and caudate nuclei as well as in brain stem and white matter; these lesions were best demonstrated on T2-weighted sequences as hyperintense areas. In eight patients we found diffuse brain atrophy with consecutive widening of the ventricular system. Five subjects showed mild, nineteen severe neurologic deficits. Generally there was no correlation between MR findings and clinical neurological symptoms; the impairment of cell-metabolism causing functional alterations of the brain precedes morphological changes. During treatment with the copper chelator D-penicillamine there seemed to be a phased course of disease. Shortening of T1-relaxation due to paramagnetic influence of copper was not seen; a possible explanation could be intracellular deposition - a proton-electron-dipolar-dipolar-interaction would there for be impossible. (orig.)

  13. MR of the liver in Wilson`s disease; MRT der Leber bei Morbus Wilson

    Energy Technology Data Exchange (ETDEWEB)

    Vogl, T.J. [Strahlenklinik und Poliklinik, Universitaetsklinikum Rudolf Virchow, Freie Univ. Berlin (Germany); Steiner, S. [Klinikum Grosshadern, Radiologische Klinik und Poliklinik, Univ. Muenchen (Germany); Hammerstingl, R. [Strahlenklinik und Poliklinik, Universitaetsklinikum Rudolf Virchow, Freie Univ. Berlin (Germany); Schwarz, S. [Klinikum Grosshadern, Neurologische Klinik, Univ. Muenchen (Germany); Kraft, E. [Klinikum Grosshadern, Neurologische Klinik, Univ. Muenchen (Germany); Weinzierl, M. [Klinikum Grosshadern, 2. Medizinische Klinik, Univ. Muenchen (Germany); Felix, R. [Strahlenklinik und Poliklinik, Universitaetsklinikum Rudolf Virchow, Freie Univ. Berlin (Germany)

    1994-01-01

    To show that Wilson`s disease is one likely cause of multiple low-intensity nodules of the liver we obtained MR images in 16 patients with clinically and histopathologically confirmed Wilson`s disease. Corresponding to morphological changes MRI enabled the subdivision of the patients into two groups. Using a T{sub 2}-weighted spin-echo sequence (TR/TE=2000/45-90) liver parenchyma showed multiple tiny low-intensity-nodules surrounded by high-intensity septa in 10 out of 16 patients. 5 patients had also low-intensity nodules in T{sub 1}-weighted images (TR/TE=600/20). In patients of this group histopathology revealed liver cirrhosis (n=7) and fibrosis (n=2). Common feature of this patient group was marked inflammatory cell infiltration into fibrous septa, increase of copper concentration in liver parenchyma and distinct pathological changes of laboratory data. In the remaining 6 patients no pathological change of liver morphology was demonstrated by MRI corresponding to slight histopathological changes of parenchyma and normal laboratory data. As low-intensity nodules surrounded by high intensity septa can be demonstrated in patients with marked inflammatory infiltration of liver parenchyma MRI may help to define Wilson patients with poorer prognosis. In patients with low-intensity nodules of the liver and unknown cause of liver cirrhosis laboratory data and histopathology should be checked when searching for disorders of copper metabolism. (orig.) [Deutsch] Im Rahmen einer prospektiven Studie wurde die Leber bei 16 Patienten mit klinisch gesichertem Morbus Wilson magnetresonanztomographisch untersucht. Zum Einsatz kamen T{sub 1}- und T{sub 2}-gewichtete Spin-Echo-Sequenzen vor und nach Applikation von Gd-DTPA (0,1 mmol/kg KG). Anhand der MRT-Befunde konnten zwei unterschiedliche Patientenkollektive definiert werden. 10 Patienten wiesen in der T{sub 2}-gewichteten Sequenz hypointense Regeneratknoten auf und zeigten histopathologisch ausgepraegte Befunde einer

  14. Copper induces hepatocyte injury due to the endoplasmic reticulum stress in cultured cells and patients with Wilson disease

    International Nuclear Information System (INIS)

    Oe, Shinji; Miyagawa, Koichiro; Honma, Yuichi; Harada, Masaru

    2016-01-01

    Copper is an essential trace element, however, excess copper is harmful to human health. Excess copper-derived oxidants contribute to the progression of Wilson disease, and oxidative stress induces accumulation of abnormal proteins. It is known that the endoplasmic reticulum (ER) plays an important role in proper protein folding, and that accumulation of misfolded proteins disturbs ER homeostasis resulting in ER stress. However, copper-induced ER homeostasis disturbance has not been fully clarified. We treated human hepatoma cell line (Huh7) and immortalized-human hepatocyte cell line (OUMS29) with copper and chemical chaperones, including 4-phenylbutyrate and ursodeoxycholic acid. We examined copper-induced oxidative stress, ER stress and apoptosis by immunofluorescence microscopy and immunoblot analyses. Furthermore, we examined the effects of copper on carcinogenesis. Excess copper induced not only oxidative stress but also ER stress. Furthermore, excess copper induced DNA damage and reduced cell proliferation. Chemical chaperones reduced this copper-induced hepatotoxicity. Excess copper induced hepatotoxicity via ER stress. We also confirmed the abnormality of ultra-structure of the ER of hepatocytes in patients with Wilson disease. These findings show that ER stress plays a pivotal role in Wilson disease, and suggests that chemical chaperones may have beneficial effects in the treatment of Wilson disease.

  15. Copper induces hepatocyte injury due to the endoplasmic reticulum stress in cultured cells and patients with Wilson disease

    Energy Technology Data Exchange (ETDEWEB)

    Oe, Shinji, E-mail: ooes@med.uoeh-u.ac.jp; Miyagawa, Koichiro, E-mail: koichiro@med.uoeh-u.ac.jp; Honma, Yuichi, E-mail: y-homma@med.uoeh-u.ac.jp; Harada, Masaru, E-mail: msrharada@med.uoeh-u.ac.jp

    2016-09-10

    Copper is an essential trace element, however, excess copper is harmful to human health. Excess copper-derived oxidants contribute to the progression of Wilson disease, and oxidative stress induces accumulation of abnormal proteins. It is known that the endoplasmic reticulum (ER) plays an important role in proper protein folding, and that accumulation of misfolded proteins disturbs ER homeostasis resulting in ER stress. However, copper-induced ER homeostasis disturbance has not been fully clarified. We treated human hepatoma cell line (Huh7) and immortalized-human hepatocyte cell line (OUMS29) with copper and chemical chaperones, including 4-phenylbutyrate and ursodeoxycholic acid. We examined copper-induced oxidative stress, ER stress and apoptosis by immunofluorescence microscopy and immunoblot analyses. Furthermore, we examined the effects of copper on carcinogenesis. Excess copper induced not only oxidative stress but also ER stress. Furthermore, excess copper induced DNA damage and reduced cell proliferation. Chemical chaperones reduced this copper-induced hepatotoxicity. Excess copper induced hepatotoxicity via ER stress. We also confirmed the abnormality of ultra-structure of the ER of hepatocytes in patients with Wilson disease. These findings show that ER stress plays a pivotal role in Wilson disease, and suggests that chemical chaperones may have beneficial effects in the treatment of Wilson disease.

  16. Wilson's Disease: Expect the Unexpected.

    Science.gov (United States)

    El Imad, Talal; Al Moussawi, Hassan; Haddad, Fady G; Felix, Richard; Mulrooney, Stephen M

    2018-02-08

    A 64-year-old woman, presented with abdominal distention, jaundice and resting tremor, was found to have liver injury and abnormal liver enzymes. A computed tomography (CT) scan of the abdomen and pelvis showed abdominopelvic ascites and signs of liver cirrhosis. An extensive liver disease workup was performed and came back negative; therefore, a liver biopsy was obtained and showed evidence of cirrhosis with elevated liver copper consistent with Wilson's disease (WD). We report a unique case of late-onset WD in which the ceruloplasmin level and 24-h urinary copper excretion were all normal.

  17. MR of the liver in Wilson's disease

    International Nuclear Information System (INIS)

    Vogl, T.J.; Steiner, S.; Hammerstingl, R.; Schwarz, S.; Kraft, E.; Weinzierl, M.; Felix, R.

    1994-01-01

    To show that Wilson's disease is one likely cause of multiple low-intensity nodules of the liver we obtained MR images in 16 patients with clinically and histopathologically confirmed Wilson's disease. Corresponding to morphological changes MRI enabled the subdivision of the patients into two groups. Using a T 2 -weighted spin-echo sequence (TR/TE=2000/45-90) liver parenchyma showed multiple tiny low-intensity-nodules surrounded by high-intensity septa in 10 out of 16 patients. 5 patients had also low-intensity nodules in T 1 -weighted images (TR/TE=600/20). In patients of this group histopathology revealed liver cirrhosis (n=7) and fibrosis (n=2). Common feature of this patient group was marked inflammatory cell infiltration into fibrous septa, increase of copper concentration in liver parenchyma and distinct pathological changes of laboratory data. In the remaining 6 patients no pathological change of liver morphology was demonstrated by MRI corresponding to slight histopathological changes of parenchyma and normal laboratory data. As low-intensity nodules surrounded by high intensity septa can be demonstrated in patients with marked inflammatory infiltration of liver parenchyma MRI may help to define Wilson patients with poorer prognosis. In patients with low-intensity nodules of the liver and unknown cause of liver cirrhosis laboratory data and histopathology should be checked when searching for disorders of copper metabolism. (orig.) [de

  18. Samuel Alexander Kinnier Wilson. Wilson's disease, Queen Square and neurology.

    Science.gov (United States)

    Broussolle, E; Trocello, J-M; Woimant, F; Lachaux, A; Quinn, N

    2013-12-01

    This historical article describes the life and work of the British physician Samuel Alexander Kinnier Wilson (1878-1937), who was one of the world's greatest neurologists of the first half of the 20th century. Early in his career, Wilson spent one year in Paris in 1903 where he learned from Pierre-Marie at Bicêtre Hospital. He subsequently retained uninterrupted links with French neurology. He also visited in Leipzig the German anatomist Paul Flechsig. In 1904, Wilson returned to London, where he worked for the rest of his life at the National Hospital for the Paralysed and Epileptic (later the National Hospital for Nervous Diseases, and today the National Hospital for Neurology and Neurosurgery) in Queen Square, and also at Kings' College Hospital. He wrote on 'the old motor system and the new', on disorders of motility and muscle tone, on the epilepsies, on aphasia, apraxia, tics, and pathologic laughing and crying, and most importantly on Wilson's disease. The other objective of our paper is to commemorate the centenary of Wilson's most important work published in 1912 in Brain, and also in Revue Neurologique, on an illness newly recognized and characterized by him entitled "Progressive lenticular degeneration, a familial nervous disease associated with liver cirrhosis". He analyzed 12 clinical cases, four of whom he followed himself, but also four cases previously published by others and a further two that he considered in retrospect had the same disease as he was describing. The pathological profile combined necrotic damage in the lenticular nuclei of the brain and hepatic cirrhosis. This major original work is summarized and discussed in the present paper. Wilson not only delineated what was later called hepato-lenticular degeneration and Wilson's disease, but also introduced for the first time the terms extrapyramidal syndrome and extrapyramidal system, stressing the role of the basal ganglia in motility. The present historical work emphasizes the special

  19. Clinical investigation in Wilson's disease

    International Nuclear Information System (INIS)

    Mizutani, Naoki; Maehara, Mitsuo; Negoro, Tamiko; Watanabe, Kazuyoshi

    1983-01-01

    Wilson's disease of cerebral type with a chief complaint of tremor occurred in 3 brothers and sisters of a certain family line. Treatment with D-penicillamine produced remarkable clinical improvement as shown by the disappearance of tremor and Kayser-Fleischer ring. Cranial CT scans made before the treatment revealed abnormal findings such as low density areas in the (bilateral) thalamus and the lenticular nucleus, atrophy of the cerebral cortex, and enlargement of the ventricles. After the treatment, cranial CT revealed that the low density areas in the thalamus and the lenticular nucleus disappeared corresponding to the clinical improvement. However, the atrophy of the cerebral cortex and the enlargement of the ventricles were not ameliorated. (Ueda, J.)

  20. Is blinking of the eyes affected in extrapyramidal disorders? An interesting observation in a patient with Wilson disease.

    Science.gov (United States)

    Verma, Rajesh; Lalla, Rakesh; Patil, Tushar B

    2012-11-27

    Blinking of eye is a routine human activity which seldom attracts any attention of clinicians in health and disease. There is experimental evidence that blink rate is affected in extrapyramidal disorders affecting the balance of these neurotransmitters. However, no observations regarding blink rate in Wilson disease (WD) have been reported previously. We report a patient of WD with an increased spontaneous blink rate. A 24-year-old lady presented complaining of tremulousness of both upper limbs and head for 2 years, dysphagia and difficulty in speaking for 1.5 years and abnormal behaviour for last 1 year. We observed that her blink rate at rest was 32/min. Serum ceruloplasmin level was low (0.08 g/l). The patient was started on therapy with D-penicillamine, zinc sulphate, levodopa-carbidopa and trihexiphenidyl. At 1-month follow-up, patient's tremors were markedly decreased and blink rate at rest was decreased to 12/min.

  1. How Is Wilson Disease Inherited?

    Science.gov (United States)

    ... News & Announcements Wilson's Warriors Events Back The Big WOW 2018 Annual Conference WDA Publications Back Downloads Corporate Sponsorship Forms Membership Forms Resources The Big WOW Newsletters News Copper Connection Newsletter Resources Centers of ...

  2. How Is Wilson Disease Diagnosed?

    Science.gov (United States)

    ... News & Announcements Wilson's Warriors Events Back The Big WOW 2018 Annual Conference WDA Publications Back Downloads Corporate Sponsorship Forms Membership Forms Resources The Big WOW Newsletters News Copper Connection Newsletter Resources Centers of ...

  3. Mismanagement of Wilson's disease as psychotic disorder.

    Science.gov (United States)

    Bidaki, Reza; Zarei, Mina; Mirhosseini, S M Mahdy; Moghadami, Samar; Hejrati, Maral; Kohnavard, Marjan; Shariati, Behnam

    2012-01-01

    Wilson's disease (WD) or hepatolenticular degeneration is an inherited neurodegenerative disorder of copper metabolism (autosomal recessive, chromosome13). Psychiatric disorders in WD include dementia, characterized by mental slowness, poor concentration, and memory impairment. Symptoms may progress rapidly, especially in younger patients, but are more often gradual in development with periods of remission and exacerbation. Delusional disorder and schizophrenia-like psychosis are rare forms of psychiatric presentation. In this report, the patient with WD presented by psychosis symptoms and treated mistaken as schizophrenia for almost ten years. Although he has treated with antipsychotics, he had periods of remissions and relapses and never was symptoms free. Since psychosis can be the manifestation of medical diseases such as WD, overall view of these patients is necessary and medical diseases should be considered as a differential diagnosis.

  4. Wilson disease : from clinical to molecular

    NARCIS (Netherlands)

    Houwen, Roderick Henk Johan

    1991-01-01

    Wilson disease is an autosomal recessive copper storage disease. It is characterized by an inability of the liver to; excrete copper into bile and to incorporate copper into ceruloplasmin. This results in a gradual accumulation of copper in the liver and subsequently in the brain and other organs,

  5. Computerized abdominal tomography in Wilson's disease

    Energy Technology Data Exchange (ETDEWEB)

    Tsuchikura, Keiko; Ogawa, Teruyuki; Nakajima, Akihisa; Ono, Yasuhiko

    1986-05-01

    Cranial and abdominal computerized tomography (CT) was performed in a 10-year-old boy with Wilson's disease complicated by liver cirrhosis. Abdominal CT showed diffuse high density areas over the whole part of the liver propably due to copper sediments, although there was no abnormal cranial CT findings. Decreased high density area of the liver was seen 60 days after the administration of D-penicillamine, suggesting the excretion of copper from the liver. Abdominal CT, as well as cranial CT, may be of help to diagnose Wilson's disease and evaluate therapeutic effects. (Namekawa, K.).

  6. Cranial MR findings in Wilson's disease

    International Nuclear Information System (INIS)

    Saatci, I.; Topcu, M.; Baltaoglu, F.F.; Koese, G.; Yalaz, K.; Renda, Y.; Besim, A.

    1997-01-01

    Purpose: To define various cranial MR appearances in Wilson's disease (WD). Material and Methods: MR examinations of 30 patients (9-44 years old) with WD were retrospectively reviewed. Six patients were asymptomatic siblings. Three other patients had isolated hepatic involvement, one with no symptoms. The remaining 21 patients had neurological involvement, 7 of whom had the mixed form of the disease. Nine patients had hepatic dysfunction, the 3 with isolated hepatic involvement and 6 of the 7 with the mixed form. Results: All symptomatic patients (n=23) had abnormal MR examinations. Atrophy was present in the majority of them. The most frequently involved sites were putamen (18/21) and pons (18/21) in patients with neurological abnormality. The putaminal lesions showed a consistent pattern of symmetric, bilateral, concentric-laminar T2 hyperintensity. Putaminal lesions were lacking in only 3 patients with neurological involvement, all of whom were relatively old and had had the disease for a longer duration. Most of the patients with hepatic dysfunction (8/9) had increased T1 signal intensity in the basal ganglia, particularly in the globus pallidus. Pontine involvement always included the dorsal aspect of the pons, however, in some cases the central portion of pons was also affected but ventrolateral longitudinal fibers were spared. Midbrain (16/21), thalamic (10/21) and caudate nucleus lesions (9/21) were also encountered. In a few patients cortical and subcortical white matter lesions were present with a predilection to the frontal lobe, particularly the precentral region. In one patient, a hemorrhagic focus was identified within the white matter lesion. (orig./VHE)

  7. Face of the giant panda sign in Wilson disease

    Directory of Open Access Journals (Sweden)

    Sumit Chakraborty

    2013-08-01

    Full Text Available Wilson disease usually presents with neurologic or hepatic manifestations. Magnetic resonance imaging (MRI of the brain is very informative in diagnosiing of this disease, especially in patients with neurological features. High T2 signal intensity in the corpus striatum is the most commonly encountered MRI finding. The 'face of the giant panda' sign is seen on axial T2-weighted MRI, and results from abnormal signal intensities in the midbrain. Though uncommon, the sign is considered as the pathognomonic MRI sign of Wilson disease.

  8. HFE gene mutations and Wilson's disease in Sardinia.

    Science.gov (United States)

    Sorbello, Orazio; Sini, Margherita; Civolani, Alberto; Demelia, Luigi

    2010-03-01

    Hypocaeruloplasminaemia can lead to tissue iron storage in Wilson's disease and the possibility of iron overload in long-term overtreated patients should be considered. The HFE gene encodes a protein that is intimately involved in intestinal iron absorption. The aim of this study was to determine the prevalence of the HFE gene mutation, its role in iron metabolism of Wilson's disease patients and the interplay of therapy in copper and iron homeostasis. The records of 32 patients with Wilson's disease were reviewed for iron and copper indices, HFE gene mutations and liver biopsy. Twenty-six patients were negative for HFE gene mutations and did not present significant alterations of iron metabolism. The HFE mutation was significantly associated with increased hepatic iron content (PHFE gene wild-type. The HFE gene mutations may be an addictional factor in iron overload in Wilson's disease. Our results showed that an adjustment of dosage of drugs could prevent further iron overload induced by overtreatment only in patients HFE wild-type. 2009. Published by Elsevier Ltd.

  9. No increased risk of hepatocellular carcinoma in cirrhosis due to Wilson disease during long-term follow-up

    NARCIS (Netherlands)

    van Meer, Suzanne; de Man, Robert A.; van den Berg, Aad P.; Houwen, Roderick H. J.; Linn, Francisca H. H.; van Oijen, Martijn G. H.; Siersema, Peter D.; van Erpecum, Karel J.

    Background and AimsData on risk of hepatocellular carcinoma (HCC) in patients with Wilson disease are scarce. We determine HCC risk in a well-defined cohort of Wilson patients. MethodsAll patients with a confirmed diagnosis of Wilson disease (Leipzig score4) in three Dutch university referral

  10. Wilson's disease: an analysis of 28 Brazilian children

    Directory of Open Access Journals (Sweden)

    Rodolpho Truffa Kleine

    2012-01-01

    Full Text Available OBJECTIVES: Clinical-laboratory and evolutionary analysis of twenty-eight patients with Wilson's disease. METHODS: Twenty-eight children (twelve females and sixteen males with Wilson's disease were evaluated retrospectively between 1987 and 2009, with a follow-up of 72 months (1 - 240 months. The clinical, laboratory, and histologic features at diagnosis were recorded at the end of the study. RESULTS: The median age at diagnosis was 11 years (2 - 18 years. Twelve patients were asymptomatic, seven had hepatitis symptoms, five had raised aminotransferase levels, three had hepatomegaly associated with neurological disorders, one had fulminant hepatitis with hemolytic anemia, and six patients presented with a Kayser-Fleischer ring. A histological analysis revealed that six children had chronic hepatitis, seven had cirrhosis, two had steatosis, one had portal fibrosis, and one had massive necrosis. The treatment consisted of D-penicillamine associated with pyridoxine for 26 patients. Adverse effects were observed in the other two patients: one presented with uncontrollable vomiting and the other demonstrated elastosis perforans serpiginosa. At the end of the study, all 26 treated patients were asymptomatic. Twenty-four of the patients were treated with D-penicillamine and pyridoxine, and two were treated with trientine and zinc sulfate. A liver transplant was performed in one patient with fulminant hepatitis, but the final patient died 48 hours after admission to the intensive care unit. CONCLUSIONS: Family screenings associated with early treatment are important in preventing Wilson's disease symptoms and potentially fatal disease progression. The study suggests that Wilson's disease must be ruled out in children older than two years presenting with abnormal levels of hepatic enzymes because of the heterogeneity of symptoms and the encouraging treatment results obtained so far.

  11. Hepatocellular Carcinoma: An Unusual Complication of Longstanding Wilson Disease.

    Science.gov (United States)

    Gunjan, Deepak; Shalimar; Nadda, Neeti; Kedia, Saurabh; Nayak, Baibaswata; Paul, Shashi B; Gamanagatti, Shivanand Ramachandra; Acharya, Subrat K

    2017-06-01

    Wilson disease is caused by the accumulation of copper in the liver, brain or other organs, due to the mutation in ATP7B gene, which encodes protein that helps in excretion of copper in the bile canaliculus. Clinical presentation varies from asymptomatic elevation of transaminases to cirrhosis with decompensation. Hepatocellular carcinoma is a known complication of cirrhosis, but a rare occurrence in Wilson disease. We present a case of neurological Wilson disease, who later developed decompensated cirrhosis and hepatocellular carcinoma.

  12. Wilson disease: more than meets the eye.

    Science.gov (United States)

    Kelly, Claire; Pericleous, Marinos

    2018-02-15

    Wilson disease is a rare but important disorder of copper metabolism, with a failure to excrete copper appropriately into bile. It is a multisystem condition with presentations across all branches of medicine. Diagnosis can be difficult and requires a high index of suspicion. It should be considered in unexplained liver disease particularly where neuropsychiatric features are also present. Treatments are available for all stages of disease. A particularly important presentation not to overlook is acute liver failure which carries a high mortality risk and may require urgent liver transplantation. Here, we provide an overview of this complex condition. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  13. Wilson's disease: start with psychiatric symptoms. Brain magnetic resonance findings

    International Nuclear Information System (INIS)

    Nagel, Jorge; Miralles, Sabrina

    2007-01-01

    Wilson's disease - hepatolenticular degeneration - is an autosomal recessive genetic disorder, characterized by an excessive and toxic accumulation of cooper in different tissues. This accumulation is produced by an inherited defect in cooper's biliary excretion. This rare disorder affects approximately one on 30.000 individuals. Signs and symptoms of hepatic, neurologic and psychiatric disease are the most common clinical presentations of symptomatic Wilson's disease. The diagnosis can usually be made by laboratory tests that find a decreased cooper binding protein in blood called ceruloplasmin, an increase in the excretion of cooper in 24 hour urine and the appearance of corneal Kayser-Fleischer ring. We present a 28 years patient who began with depression and panic attacks, followed by neurologic symptoms. Brain MRI was performed and showed different alterations suggesting the diagnosis of this infrequent sickness. (author) [es

  14. Diverse Functional Properties of Wilson Disease ATP7B Variants

    Science.gov (United States)

    Huster, Dominik; Kühne, Angelika; Bhattacharjee, Ashima; Raines, Lily; Jantsch, Vanessa; Noe, Johannes; Schirrmeister, Wiebke; Sommerer, Ines; Sabri, Osama; Berr, Frieder; Mössner, Joachim; Stieger, Bruno; Caca, Karel; Lutsenko, Svetlana

    2012-01-01

    BACKGROUND & AIMS Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. The disease presents with a variable phenotype that complicates the diagnostic process and treatment. Little is known about the mechanisms that contribute to the different phenotypes of the disease. METHODS We analyzed 28 variants of ATP7B from patients with Wilson disease that affected different functional domains; the gene products were expressed using the baculovirus expression system in Sf9 cells. Protein function was analyzed by measuring catalytic activity and copper (64Cu) transport into vesicles. We studied intracellular localization of variants of ATP7B that had measurable transport activities and were tagged with green fluorescent protein in mammalian cells using confocal laser scanning microscopy. RESULTS Properties of ATP7B variants with pathogenic amino-acid substitution varied greatly even if substitutions were in the same functional domain. Some variants had complete loss of catalytic and transport activity, whereas others lost transport activity but retained phosphor-intermediate formation or had partial losses of activity. In mammalian cells, transport-competent variants differed in stability and subcellular localization. CONCLUSIONS Variants in ATP7B associated with Wilson disease disrupt the protein’s transport activity, result in its mislocalization, and reduce its stability. Single assays are insufficient to accurately predict the effects of ATP7B variants the function of its product and development of Wilson disease. These findings will contribute to our understanding of genotype–phenotype correlation and mechanisms of disease pathogenesis. PMID:22240481

  15. Wilson's disease in children: clinical and diagnostic features

    International Nuclear Information System (INIS)

    Ayesha, H.; Choudhry, A.A.; Javed, M.T.; Javed, F.

    2002-01-01

    Objective: To study the clinical and diagnostic laboratory features of Wilsons disease in children and adolescents. Design: A prospective cohort study. Place and Duration of study: The study included patients diagnosed as Wilson s disease at the Department of Pediatrics Allied Hospital, Punjab medical College, Faisalabad from May 1997 to June 2001. Patients and methods: Patients presenting with liver or suggestive neurological disease were investigated. Others were diagnosed as a result of family screening. Diagnosis of neurologic disease was made if two of the following were present: Typical neurological findings, Kayser Fleischer corneal rings and low serum ceruloplasmin ( 100 mu gm) free serum copper (>10 mu gm/dl). In other forms and for family screening, 24 hours. Urinary copper (> 100 mu gm), free serum copper (>10 mu gm/dl), and wherever possible liver biopsy for histopathology and cytochemical staining by rubeanic acid was also done. Results: Twenty-seven patients with a mean age of 10.2 years were diagnosed as suffering from Wilson disease. Mean age for hepatic and neurological disease was 9 years and 11.5 years respectively. Youngest patient (neurologic) was 6 years old. 48% cases presented with neurological, 41% with hepatic and 4% with skeletal manifestations while 7 % were asymptomatic. Mean duration of symptoms before diagnosis was 6.1 months. Dysarthria (84.6%), tremors (69.2%), rigidity and poor school performance and hand writing (61.5%), dysphagia (46.1%) and dystonia (38.5%), were the most common neurologic findings. Chronic liver disease was seen in 73 % while acute forms were seen in 27 % cases. Two cases presented with fulminant hepatic failure. Consanguineous marriage of the parents was found in 70 % and family history of disease was present in 65 % cases. K-F (Kayser Fleischer) rings and low serum ceruloplasmin(<20 mg/dl) was found in 85% of all patients. In non neurologic types other tests of copper metabolism were done. Elevated urinary

  16. [Wilson disease. A case report and review of the literature].

    Science.gov (United States)

    Alva-Moncayo, Edith; Castro-Tarín, María; González-Serrano, Adolfo

    2011-01-01

    Wilson disease is a problem of cuprum metabolism, with recesive autosomic hereditary transmission and a prevalence of one in 30,000 habitants. The cuprum is deposit in a progressive and irreversible way in the liver and encephalus and it is not liberated with quelant treatment. Neurological manifestations are tremor, disartria, extrapiramidal manifestations or distonia. Ophthalmic exploration shows corneal limb with sign of Kayser-Fleischer. a 15-year-old masculine patient with previous hepatitis outbreak in two times. During the last year he presented distonia, bradicinecious, stiffness and indifference with ictericia. Ophthalmological examination reported Kayser-Fleisher rings. Magnetic resonance of brain showed high dense images in lenticular, pallidus globe and caudate nucleus suggestive of Wilson disease. Ceruloplasmin concentration, cuprum in the liver biopsy confirmed the diagnosis. the importance of the case was the hepatic initial manifestations and two years after presented with inexpressive face, and it was considered a psychiatric disease, but the neurological evaluation and the liver biopsy confirmed the diagnosis of Wilson disease.

  17. Middle-aged heterozygous carriers of Wilson's disease do not ...

    Indian Academy of Sciences (India)

    957 Warsaw, Poland. 2Medical University of Warsaw, Department of Experimental and Clinical Pharmacology, 00–325 Warsaw, Poland. Introduction. Wilson disease (WD) is an autosomal recessive disor- der of copper (Cu) metabolism (OMIM ...

  18. The cerebral lesions of Wilson's disease on computer tomography

    International Nuclear Information System (INIS)

    Rodiek, S.

    1983-01-01

    M. Wilson is often being mistaken as such for several years and kept for psychosis or another extrapyramidal disease. When the disease causes neuro-psychiatric symptoms a certain part of cases shows typical lesions in CT mainly affecting the Nucleus lentiformis and frontal cortex. From our own material two cases of M. Wilson are shown and compared with two other cases with identical patterns of lesions following toxic and hypoxic brain damage. (orig.) [de

  19. Importance and significance of liver echotomography in Wilson disease childhood

    Energy Technology Data Exchange (ETDEWEB)

    Corda, R; Nurchi, A M; Corrias, A; Corda, A; Giagheddu, M; Campisi, G

    1987-01-01

    We studed the hepatic echography patterns of young patients suffering from Wilson's Disease and compared these with results obtained from laboratory tests and parenchymal biopsy. Eight children, aged between 5 and 12 years (4 males and 4 females), were examined. The symptomatological pattern showed hepatomegaly and liver dysfunction with undetectable or very low serum ceruloplasmine levels and typical aspects of organic copper metabolism. In 50% of cases echography revealed a variable hyperreflection of the whole parenchyma, in connection with the presence of steatosis and aspects of intralobular inflammation. Fine and linear echoes were present, in 50% of the cases, with varying degrees of brightness, which was associated with the presence of fibrotic component or copper granules. Further echographic modifications were less frequent. Echography in close relatives of our patients was observed hepatomegaly and alteration of hepatic reflection associated with fibrotic component. In the evaluation of liver involvement in Wilson's Disease, these findings show that echotomography, when compared to hepatic biopsy, is less efficient in detecting different types of hepatic lesion but on a clinical basis it offers the possibility of evaluating their presence and gravity during the evolutive phase of the illness. This examination, unlike other methods, is completely non invasive; it may easily be repeated and may, in the future, come to be used as more precise diagnostic complement. 30 refs.

  20. Frequency-dependent changes in the amplitude of low-frequency fluctuations in patients with Wilson's disease: a resting-state fMRI study.

    Science.gov (United States)

    Hu, Xiaopeng; Chen, Siyi; Huang, Chang-Bing; Qian, Yinfeng; Yu, Yongqiang

    2017-06-01

    To investigate the frequency-dependent changes in the amplitude of low-frequency fluctuations (ALFF) in patients with Wilson's disease (WD). Resting-state function magnetic resonance imaging (R-fMRI) were employed to measure the amplitude of ALFF in 28 patients with WD and 27 matched normal controls. Slow-5 (0.01-0.027 Hz) and slow-4 (0.027-0.073 Hz) frequency bands were analyzed. Apart from the observation of atrophy in the cerebellum, basal ganglia, occipital gyrus, frontal gyrus, precentral gyrus, and paracentral lobule, we also found widespread differences in ALFF of the two bands in the medial frontal gyrus, inferior temporal gyrus, insula, basal ganglia, hippocampus/parahippocampal gyrus, and thalamus bilaterally. Compared to normal controls, WD patients had increased ALFF in the posterior lobe of the cerebellum, inferior temporal gyrus, brain stem, basal ganglia, and decreased ALFF in the anterior lobe of the cerebellum and medial frontal gyrus. Specifically, we observed that the ALFF abnormalities in the cerebellum and middle frontal gyrus were greater in the slow-5 than in the slow-4 band. Correlation analysis showed consistently positive correlations between urinary copper excretion (Cu), serum ceruloplasmin (CP) and ALFFs in the cerebellum. Our study suggests the accumulation of copper profoundly impaired intrinsic brain activity and the impairments seem to be frequency-dependent. These results provide further insights into the understanding of the pathophysiology of WD.

  1. Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients

    OpenAIRE

    Marianna Spunton; Livia Garavelli; Paola Cerutti Mainardi; Uta Emmig; Enrico Finale; Andrea Guala

    2018-01-01

    Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and characterized by typical clinical features. The congenital malformations typical of this syndrome call for early diagnostic and surgical procedures requiring general anesthesia, but few information about the anesthesiology management of such patients is available. We enrolled 11 families of patients with Mowat-Wilson syndrome who had undergone surgical or diagnostic procedures requiri...

  2. Wilson's disease: cranial MRI observations and clinical correlation

    International Nuclear Information System (INIS)

    Sinha, S.; Taly, A.B.; Prashanth, L.K.; Venugopal, K.S.; Arunodaya, G.R.; Swamy, H.S.; Ravishankar, S.; Vasudev, M.K.

    2006-01-01

    Study of MRI changes may be useful in diagnosis, prognosis and better understanding of the pathophysiology of Wilson's disease (WD). We aimed to describe and correlate the MRI abnormalities of the brain with clinical features in WD. MRI evaluation was carried out in 100 patients (57 males, 43 females; mean age 19.3±8.9 years) using standard protocols. All but 18 patients were on de-coppering agents. Their history, clinical manifestations and scores for severity of disease were noted. The mean duration of illness and treatment were 8.3±10.8 years and 7.5±7.1 years respectively. MRI of the brain was abnormal in all the 93 symptomatic patients. The most conspicuous observations were atrophy of the cerebrum (70%), brainstem (66%) and cerebellum (52%). Signal abnormalities were also noted: putamen (72%), caudate (61%), thalami (58%), midbrain (49%), pons (20%), cerebral white matter (25%), cortex (9%), medulla (12%) and cerebellum (10%). The characteristic T2-W globus pallidal hypointensity (34%), ''Face of giant panda'' sign (12%), T1-W striatal hyperintensity (6%), central pontine myelinosis (7%), and bright claustral sign (4%) were also detected. MRI changes correlated with disease severity scores (P<0.001) but did not correlate with the duration of illness. MRI changes were universal but diverse and involved almost all the structures of the brain in symptomatic patients. A fair correlation between MRI observations and various clinical features provides an explanation for the protean manifestations of the disease. (orig.)

  3. MRI manifestation of Wilson's disease accompanied with central pontine myelinolysis

    International Nuclear Information System (INIS)

    Zhang Jingsong; Huan Yi; Chang Yingjuan; Chang Yingjuan; Ge Yali; Zhang Guangyun; Han Yuedong; Zhao Haitao; Yang Chunmin; Yang Yan

    2004-01-01

    Objective: To discuss MRI manifestation of Wilson's disease accompanied with central pontine myelinolysis (CPM), and to especially detect the value of diffusion-weighted MRI (DWI) in this disease. Methods: Two cases of Wilson's disease accompanied with CPM were performed with sequent MR examination including T 1 WI, T 2 WI, FLAIR, DWI, and contrast-enhanced MRI (CE MRI) by a 1.5 T magnetic resonance system (Philips gyroscan master). Results: Symmetric long T 1 and T 2 signals were found in central pontine region, lenticular nucleus, caudate nucleus, and thalamus. CEMRI showed no apparent enhanced lesions. DWI showed obviously high signal intensities in central pontine region with apparent diffusion coefficient values fluctuated between (100-300) x 10 -6 mm 2 /s while FLAIR images just showed slightly high signal in the same area, which suggested that cytotoxic edema did in fact exist in CPM. Meanwhile, DWI also showed high signals in bilateral lenticular nucleus with apparent diffusion coefficient values fluctuated between (300-600) x 10 -6 mm 2 /s, however, FLAIR images showed heterogeneous high signals and one case presented low DWI signals in bilateral head of caudate nucleus, all these signs might be explained by mixed-changes of cytotoxic edema and vasogenic edema in long period of Wilson's disease. Conclusion: Wilson's disease and CPM have characteristic MRI manifestation and DWI may be a very useful way to confirm a correct diagnosis. (authors)

  4. Epidemiology and introduction to the clinical presentation of Wilson disease.

    Science.gov (United States)

    Lo, Christine; Bandmann, Oliver

    2017-01-01

    Our understanding of the epidemiology of Wilson disease has steadily grown since Sternlieb and Scheinberg's first prevalence estimate of 5 per million individuals in 1968. Increasingly sophisticated genetic techniques have led to revised genetic prevalence estimates of 142 per million. Various population isolates exist where the prevalence of Wilson disease is higher still, the highest being 885 per million from within the mountainous region of Rucar in Romania. In Sardinia, where the prevalence of Wilson disease has been calculated at 370 per million births, six mutations account for around 85% of Wilson disease chromosomes identified. Significant variation in the patterns of presentation may however exist, even between individuals carrying the same mutations. At either extremes of presentation are an 8-month-old infant with abnormal liver function tests and individuals diagnosed in their eighth decade of life. Three main patterns of presentation have been recognized - hepatic, neurologic, and psychiatric - prompting their presentation to a diverse range of specialists. Deviations in the family history from the anticipated autosomal-recessive mode of inheritance, with apparent "pseudodominance" and mechanisms of inheritance that include uniparental isodisomy (the inheritance of both chromosomal copies from a single parent), may all further cloud the diagnosis. It can therefore take the efforts of an astute clinician with a high clinical index of suspicion to clinch the diagnosis of this eminently treatable condition. © 2017 Elsevier B.V. All rights reserved.

  5. Increased cerebral iron uptake in Wilson's disease : A (52)Fe-citrate PET study

    NARCIS (Netherlands)

    Bruehlmeier, M; Leenders, KL; Vontobel, P; Calonder, C; Antonini, A; Weindl, A

    Toxicity of abundant copper is the main cause of brain and liver tissue damage in patients with Wilson's disease (WD). However, there is also evidence of a disturbed iron metabolism in this genetically determined disorder. This PET study was undertaken to assess cerebral iron metabolism in WD

  6. Potential of radiocopper in the diagnosis of Wilson disease

    International Nuclear Information System (INIS)

    Archambaud, F.; Yvart, J.; Moati, F.; Bernard, O.; Dommergues, J.P.; Desgrez, A.; Odievre, M.

    1988-01-01

    The purpose of the study is to establish if a simple test with 64 Cu is a valuable means of differenciating homozygotes for the ''Wilson's disease gene'' from heterozygous carriers and normal subjects for copper metabolism. A group of 73 subjects were studied. The only parameter which appears to be interesting is the percentage of administrated 64 Cu incorporated into ceruloplasmin at 48h. This test appears to be interesting to predict the disease and to avoid biopsy for determination of hepatic copper concentration [fr

  7. Presentación clínica, diagnóstico y evolución a largo plazo en 29 pacientes con enfermedad de Wilson Clinical presentation, diagnosis, and long-term outcome of 29 patients with Wilson's disease

    Directory of Open Access Journals (Sweden)

    J. L. Rodrigo Agudo

    2008-08-01

    Full Text Available Objetivo: analizar las características clínicas, el tratamiento y evolución de los pacientes diagnosticados de enfermedad de Wilson (EW en la región de Murcia. Pacientes y método: se realizó un análisis retrospectivo de las historias clínicas de los 29 pacientes (edad media ± DE, 20,3 ± 13,4 años con EW diagnosticados en los últimos 16 años. Resultados: el motivo de consulta más frecuente fue el descubrimiento de transaminasas elevadas, en casi la mitad de los pacientes, seguido de temblor o distonía en el 17% respectivamente. El anillo de Kayser-Fleischer se objetivó en 17 de los 29 (58,6% pacientes (100% de los pacientes con afectación neurológica pura y en el 35,3% de los pacientes con clínica hepática pura; p Objective: to analyze the clinical characteristics, treatment, and follow-up of a cohort of 29 patients with Wilson's disease (WD within the region of Murcia. Patients and method: we reviewed the medical records of 29 cases of WD (mean age, 20.3 ± 13.4 years diagnosed during the last 16 years. Results: the most frequent reason for consultation was upon discovering a high transaminase level in almost half the patients, followed by tremors or dystonia in 17% of patients, respectively. A Kayser-Fleischer ring was observed in 17/29 (58.6% of patients (100% of patients with pure neurological involvement and 35% of patients with pure clinical hepatic disease; p < 0.001. Blood copper levels not associated with ceruloplasmin as well as cupruria were notably superior in patients with neurological symptoms and in those with liver cirrhosis at the time of diagnosis. Patient clinical symptoms remained stable with D-penicillamine or trientine, or improved during the observation period, for 18 out of 29 patients (62%, while 11 out of 29 patients (38% got worse. Conclusions: in our region patients with WD are diagnosed at a younger age, and in most cases for hepatic disease. Patients with neurological disease o liver cirrhosis had

  8. Dystonic Dysarthria in Wilson Disease: Efficacy of Zolpidem

    Directory of Open Access Journals (Sweden)

    Aurélia Poujois

    2017-10-01

    Full Text Available Wilson disease (WD is a rare genetic disorder characterized by copper overload in the liver and the brain. Neurological presentations are mainly related to the accumulation of copper in the basal ganglia, the brainstem, and the cerebellum. Dysarthria is a frequent symptom, with dystonic, spastic, or parkinsonian components and is usually resistant to medical or voice rehabilitation therapies. Here, we report the case of a patient with WD diagnosed at the age of 12, who presented a severe and constant dysarthria from dystonic origin which was unresponsive to benzodiazepines and anticholinergic drugs. When she was 25-year-old, she tried zolpidem at bedtime for sleeping difficulties and reported a paradoxical effect of this drug on her voice. To confirm the effect of zolpidem on her dystonic dysarthria, we realized a full evaluation of her dysarthria at baseline without zolpidem and after 4 days of treatment by 10 mg twice a day. Lexical access was evaluated by the semantic fluency; dysarthria by the Intelligibility Score, the spontaneous speech and reading rates, the maximum phonation time on the sustained vowel [a] and by a perceptive evaluation. Two hours after the intake of zolpidem, improvement of all the parameters tested, with the exception of the maximum phonation time, was observed. Semantic fluency increased by 59%, the spontaneous speech rate by 88% and the reading rate by 76%. General dystonia remained unchanged and the tolerance of zolpidem was satisfactory. Since then, the patient takes zolpidem 5 mg five times a day, and 4 years later shows persistent improvement in oral communication and a good drug tolerance. In this single-case study, we showed that regular daytime intake of zolpidem could have a persisting effect on a complex dystonic dysarthria that was resistant to usual medical treatments.

  9. Persistently and asymptomatic raised liver enzymes as a form of presentation of Wilson's disease at pediatric age

    Directory of Open Access Journals (Sweden)

    Catarina Matos

    2015-06-01

    Full Text Available Background: Wilson`s disease is a rare autosomal recessive disorder characterized by a change in the transport of copper in the liver, with progressive accumulation in this and other organs such as brain, kidney and cornea. Phenotypic expression of the disease varies widely and can range from elevated liver enzymes, fatty liver or gallstones in asymptomatic patients, to cirrhosis and fulminant hepatic failure, or disabling neuropsychiatric disease. Aim: To characterize a sample of patients with Wilson´s disease. Patients and Methods: Retrospective survey including children diagnosed with Wilson´s disease between 2002 and 2011 according to the criteria of the European Association for the Study of the Liver (2012. We analyzed family history; age, clinical data, imaging and histology at the time of diagnosis; genetic analysis; treatment and side effects; follow-up and current status. Results: We identified five patients. Three had a family history of disease. All were asymptomatic and had maintained raised liver enzymes. No patient had clinical stigmata of chronic liver disease. One female patient had overweight. All were treated with D-penicillamine, withdrawn in two patients because of side effects. Currently all patients remain asymptomatic, without evidence of progression of liver disease, with a median follow-up of 5 years and 3 months. Discussion: Our series show that Wilson´s disease may be present with raised liver enzymes in asymptomatic children. The overweight patient alerts us to screen the disease in overweight/obese patients with raised liver enzymes and/or steatosis persisting for more than six months after weight loss.

  10. Microstructure assessment of the thalamus in Wilson's disease using diffusion tensor imaging

    International Nuclear Information System (INIS)

    Li, G.; Zhou, X.; Xu, P.; Pan, X.; Chen, Y.

    2014-01-01

    Aim: To assess diffusion changes of the thalamus in Wilson's disease using diffusion tensor imaging (DTI). Materials and methods: Fifteen patients with Wilson's disease and an abnormal signal in the thalamus (designated as group 1) and 18 patients with Wilson's disease with a normal-appearing thalamus (designated as group 2) at conventional magnetic resonance imaging (MRI) were recruited. Fifteen age-matched and sex-matched healthy volunteers were also enrolled as the control group (designated as group 3). The fractional anisotropy (FA), primary eigenvalue (λ1), second eigenvalue (λ2), and third eigenvalue (λ3) of the thalamus were measured and the differences were compared. Results: The FA values of the thalamus were different in the three groups (group 1: 0.36 ± 0.02; group 2: 0.38 ± 0.02; group 3: 0.43 ± 0.02; F = 54.51, p 2 /s, 1.11 ± 0.06 mm 2 /s, and 1.10 ± 0.04 mm 2 /s of λ1 in group 1, group 2, and group 3, respectively; 0.82 ± 0.08 mm 2 /s, 0.78 ± 0.05 mm 2 /s, and 0.72 ± 0.02 mm 2 /s of λ2 in group 1, group 2, and group 3, respectively; 0.52 ± 0.05 mm 2 /s, 0.49 ± 0.06 mm 2 /s, and 0.42 ± 0.06 mm 2 /s of λ3 in group 1, group 2, and group 3, respectively; F = 1.65, p = 0.203 of λ1; F = 10.55, p < 0.001 of λ2; F = 4.21, p = 0.021 of λ3; respectively). A statistically significant difference in the λ2 value was observed between group 1 and group 3 (p < 0.001) and group 2 and group 3 (p = 0.005). A statistically significant difference in the λ3 value was also observed between group 1 and group 3 (p = 0.007). No significant difference in the λ1 value was noted between each of the two groups. Conclusions: Damage of the thalamus in Wilson's disease patients can be detected using DTI. DTI may provide information regarding thalamus damage in patients with Wilson's disease before abnormal signals on conventional MRI

  11. Urinary excretion of radiocopper in presymptomatic and symptomatic Wilson's disease, heterozygotes and controls: its significance in diagnosis and management

    Energy Technology Data Exchange (ETDEWEB)

    Gibbs, K; Hanka, R; Walshe, J M [Cambridge Univ. (UK). Clinical School

    1978-07-01

    Radiocopper (/sup 64/Cu, /sup 67/Cu), given intravenously, has been used to study the pattern of excretion of copper in patients with presymptomatic, symptomatic and treated Wilson's disease, together with heterozygotes for the Wilson's disease gene and a control group of patients with a variety of neurological lesions mimicking wilson's disease. The most important radiochemical findings were as follows. Heterozygotes excreted less of the injected copper than controls both under basal conditions and after penicillamine. Presymptomatic patients excreted less radiocopper than heterozygotes after penicillamine although the excretion during the basal 24 hour period was very much greater. Patients with symptomatic Wilson's disease had by far the highest excretion of radiocopper in all three time periods which fell after treatment, pro rata with time, as had been found for stable copper. These results were subjected to computer analysis. There was no overlap between the various groups with the exception of a single control subject who had combined pyramidal and extrapyramidal system degeneration of obscure aetiology. This patient was classified by the computer as 'heterozygote'. These findings lend further support to the hypothesis that the loss of a single gene for copper balance can be detected with a high degree of accuracy and also that presymptomatic patients can be selected from a sibship for prophylactic treatment without the risk of subjecting healthy heterozygotes to unnecessary and potentially hazardous longterm therapy.

  12. Successful Splenectomy for Hypersplenism in Wilson's Disease: A Single Center Experience from China.

    Science.gov (United States)

    Li, Liang-Yong; Yang, Wen-Ming; Chen, Huai-Zhen; Wu, Yun-Hu; Fang, Xiang; Zhang, Jing; Wang, Zhen; Han, Yong-Sheng; Wang, Yu

    2015-01-01

    Splenomegaly and pancytopenia are common in Wilson's disease (WD) and splenectomy is one of the conventional treatments for splenomegaly and the associated pancytopenia. However, splenectomy remained controversial for hypersplenism in WD as it was reported that splenectomy leaded to serious emotional and neurological deterioration in WD patients with hypersplenism. In the current study, we present our experiences in 70 WD patients with hypersplenism who had undergone splenectomy, outlining the safety and efficacy of splenectomy in WD. The clinical database of 70 WD patients with hypersplenism who had undergone splenectomy in our hospital between 2009 and 2013 were reviewed and followed-up regularly. Before splenectomy, all the patients accepted a short period of anti-copper treatment with intravenous sodium 2, 3-dimercapto-1-propane sulfonate (DMPS). All the patients demonstrated a marked improvement in platelet and leucocyte counts after splenectomy. No severe postoperative complication was observed. In particular, none of the 37 patients with mixed neurologic and hepatic presentations experienced neurological deterioration after splenectomy, and none of the patients with only hepatic presentations newly developed neurological symptoms. During the one year follow-up period, no patient presented hepatic failure or hepatic encephalopathy, no hepatic patient newly developed neurological presentations, and only 3 patients with mixed neurologic and hepatic presentations suffered neurological deterioration and these 3 patients had poor compliance of anti-copper treatment. Quantative analysis of the neurological symptoms in the 37 patients using the Unified Wilson's Disease Rating Scale (UWDRS) showed that the neurological symptoms were not changed in a short-term of one week after splenectomy but significantly improved in a long-term of one year after splenectomy. Additionally, compared to that before splenectomy, the esophageal gastric varices in most patients

  13. Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity.

    Directory of Open Access Journals (Sweden)

    Relu Cocoş

    Full Text Available Wilson's disease is an autosomal recessive disorder caused by more than 500 mutations in ATP7B gene presenting considerably clinical manifestations heterogeneity even in patients with a particular mutation. Previous findings suggested a potential role of additional genetic modifiers and environment factors on phenotypic expression among the affected patients. We conducted clinical and genetic investigations to perform genotype-phenotype correlation in two large families living in a socio-culturally isolated community with the highest prevalence of Wilson's disease ever reported of 1 ∶ 1130. Sequencing of ATP7B gene in seven affected individuals and 43 family members identified a common compound heterozygous genotype, H1069Q/M769H-fs, in five symptomatic and two asymptomatic patients and detected the presence of two out of seven identified single nucleotide polymorphisms in all affected patients. Symptomatic patients had similar clinical phenotype and age at onset (18 ± 1 years showing dysarthria and dysphagia as common clinical features at the time of diagnosis. Moreover, all symptomatic patients presented Kayser-Fleischer rings and lack of dystonia accompanied by unfavourable clinical outcomes. Our findings add value for understanding of genotype-phenotype correlations in Wilson's disease based on a multifamily study in an isolated population with high extent of genetic and environmental homogeneity as opposed to majority of reports. We observed an equal influence of presumed other genetic modifiers and environmental factors on clinical presentation and age at onset of Wilson's disease in patients with a particular genotype. These data provide valuable inferences that could be applied for predicting clinical management in asymptomatic patients in such communities.

  14. Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients

    Directory of Open Access Journals (Sweden)

    Marianna Spunton

    2018-03-01

    Full Text Available Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and characterized by typical clinical features. The congenital malformations typical of this syndrome call for early diagnostic and surgical procedures requiring general anesthesia, but few information about the anesthesiology management of such patients is available. We enrolled 11 families of patients with Mowat-Wilson syndrome who had undergone surgical or diagnostic procedures requiring general anesthesia, and sent them a retrospective questionnaire including 16 open questions about the procedures. They were further contacted by phone for a semi-structured interview. A total of 37 procedures requiring general anesthesia was reported in 11 patients. Only two patients reported anesthesia-related complications during the procedure. No true additional anesthesia-related risk was present for the patients with MW syndrome, besides difficult intubation, weaning and lower respiratory tract infection. Perception of risk, however, is derived by non-medical observation on the part of the parents.

  15. Metabolism of 25-hydroxyvitamin D in copper-laden rat: A model of Wilson's disease

    International Nuclear Information System (INIS)

    Carpenter, T.O.; Pendrak, M.L.; Anast, C.S.

    1988-01-01

    Wilson's disease results in excess tissue accumulation of copper and is often complicated by skeletal and mineral abnormalities. The authors investigated vitamin D metabolism in rats fed a copper-laden diet rendering hepatic copper content comparable with that found in Wilson's disease. Injection of 25-hydroxyvitamin D 3 [25(OH)D 3 ] resulted in reduced 1,25--dihydroxyvitamin D [1,25(OH) 2 D] levels in copper-intoxicated rats. In vitro 25(OH)D-1α-hydroxylase activity was impaired in renal mitochondria from copper-intoxicated animals. Activity was also inhibited in mitochondrial from controls when copper was added to incubation media. Impaired conversion of 25(OH)D to 1,25(OH) 2 D occurs in copper intoxication and suggests that altered vitamin D metabolism is a potential factor in the development of bone and mineral abnormalities in Wilson's disease

  16. Magnetic resonance tomography and computed tomography of the brain for diagnosing Wilson's disease

    International Nuclear Information System (INIS)

    Uhlenbrock, D.; Straube, A.; Beyer, H.K.; Leopold, H.C.

    1985-01-01

    The authors report on two woman patients with confirmed Wilson's desease (hepatolenticular degeneration) who had neurological deficits and showed typical changes evident from laboratory data. Both computed tomography and magnetic resonance tomography revealed degenerative changes in the basal ganglia, especially of the lenticular nucleus, MR showing these defects more clearly than CT. There was a noticeable symmetrical enhancement of signals in the lenticular nucleus which was particularly evident on the image basing on the T 2 (spin-spin relaxation time constant) values. MR could be superior to CT with regard to showing up pathological changes in the basal ganglia. The future indication of MR could be the establishment of an exact correlation between clinical signs and symptoms on the one hand, and morphological findings on the other. Over and above this, it should be explored to what extent MR can already detect degenerative changes in the brain in primarily hepatic types of the disease even without prior neurological examination. (orig.) [de

  17. Update on the clinical management of Wilson's disease

    Directory of Open Access Journals (Sweden)

    Hedera P

    2017-01-01

    Full Text Available Peter Hedera Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA Abstract: Wilson’s disease (WD, albeit relatively rare, is an important genetic metabolic disease because of highly effective therapies that can be lifesaving. It is a great imitator and requires a high index of suspicion for correct and timely diagnosis. Neurologic, psychiatric and hepatologic problems in WD are very nonspecific, and we discuss the most common clinical phenotypes. The diagnosis remains laboratory based, and here we review the most important challenges and pitfalls in laboratory evaluation of WD, including the emerging role of genetic testing in WD diagnosis. WD is a monogenic disorder but has very high allelic heterogeneity with >500 disease-causing mutations identified, and new insights into phenotype–genotype correlations are also reviewed. The gold standard of therapy is chelation of excessive copper, but many unmet needs exist because of possible clinical deterioration in treated patients and potential adverse effects associated with currently available chelating medications. We also review the most promising novel therapeutic approaches, including chelators targeting specific cell types, cell transplantation and gene therapy. Keywords: Wilson’s disease, copper, ATP7B, chelation, gene therapy

  18. Wilson's Disease: a challenge of diagnosis. The 5-year experience of a tertiary centre.

    Science.gov (United States)

    Gheorghe, Liana; Popescu, Irinel; Iacob, Speranta; Gheorghe, Cristian; Vaidan, Roxana; Constantinescu, Alexandra; Iacob, Razvan; Becheanu, Gabriel; Angelescu, Corina; Diculescu, Mircea

    2004-09-01

    Because molecular diagnosis is considered impractical and no patognomonic features have been described, diagnosis of Wilson's disease (WD) using clinical and biochemical findings is still challenging. We analysed predictive factors for the diagnosis in 55 patients with WD diagnosed in our centre between 1st January 1999 and 1st April 2004. All patients presented predominant liver disease classified as: 1) asymptomatic, found incidentally, 2) chronic hepatitis or cirrhosis, or 3) fulminant hepatic failure. Diagnosis was considered as classic (two out of the three following criteria: 1) serum ceruloplasmin 250 mg/g dry weight liver tissue), and non-classic (clinical manifestations plus laboratory parameters suggesting impaired copper metabolism). The association between the predictive factors and non-classic diagnosis was assessed based on the level of statistical significance (p value18 years (p=0.03), increased copper excretion (p<0.0001), Coombs-negative hemolysis (p=0.03), absence of neurological manifestations (p<0.0001). Multivariate analysis identified age over 18 years, increased urinary copper, and isolated hepatic involvement as independent predictors. In clinical practice, WD should be considered also in patients who do not fulfil classic criteria. Independent factors associated with non-classic diagnosis were age over 18 years, increased cupruresis and isolated liver disease.

  19. Doença de Wilson em crianças e adolescentes: diagnóstico e tratamento Wilson's disease in children and adolescents: diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Stephania de Andrade Sócio

    2010-06-01

    Pediatric Hepatology Ambulatory of the Hospital das Clínicas of Universidade Federal de Minas Gerais, Brazil, from 1985 to 2008. Data were collected by revision of medical charts and during clinical follow-up. RESULTS: Patients were 2.8 to 15.1 years old, with a mean age of 8.8±0.9 years. The disease main presentation was hepatic (53%, followed by the asymptomatic form, diagnosed by family screening. The Kayser-Fleischer ring was observed in 41% of the patients. The ceruloplasmin was altered in 15 out of 17 patients, and the urinary copper varied from 24 to 1000mcg/24h (median: 184mcg/24h. The treatment was stablished with D-penicillamine in all cases. Slight side effects were observed in five children, with no need to interrupt or change medication. Clinical and laboratory responses to treatment, with normalization of aminotransferases levels, were shown in 14 patients after a median of 10.7 months. Although treated, three patients died (one due to fulminant hepatitis and two due to severe hepatic failure. CONCLUSIONS: Wilson's disease is rare in the pediatric group. In children, the main presentation is the liver disease. The diagnosis can be established by reduced ceruloplasmin levels and elevated copper excretion in the 24-hour urine, but it demands high suspicion level. There are good tolerance and response to medical treatment.

  20. Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis

    NARCIS (Netherlands)

    Polishchuk, Elena V.; Concilli, Mafalda; Iacobacci, Simona; Chesi, Giancarlo; Pastore, Nunzia; Piccolo, Pasquale; Paladino, Simona; Baldantoni, Daniela; van IJzendoorn, Sven C. D.; Chan, Jefferson; Chang, Christopher J.; Amoresano, Angela; Pane, Francesca; Pucci, Piero; Tarallo, Antonietta; Parenti, Giancarlo; Brunetti-Pierri, Nicola; Settembre, Carmine; Ballabio, Andrea; Polishchuk, Roman S.

    2014-01-01

    Copper is an essential yet toxic metal and its overload causes Wilson disease, a disorder due to mutations in copper transporter ATP7B. To remove excess copper into the bile, ATP7B traffics toward canalicular area of hepatocytes. However, the trafficking mechanisms of ATP7B remain elusive. Here, we

  1. Wilson's disease: cranial MRI observations and clinical correlation

    Energy Technology Data Exchange (ETDEWEB)

    Sinha, S.; Taly, A.B.; Prashanth, L.K.; Venugopal, K.S.; Arunodaya, G.R.; Swamy, H.S. [National Institute of Mental Health and Neurosciences (NIMHANS), Department of Neurology, Bangalore (India); Ravishankar, S.; Vasudev, M.K. [National Institute of Mental Health and Neurosciences (NIMHANS), Department of Neuroimaging and Interventional Radiology, Bangalore (India)

    2006-09-15

    Study of MRI changes may be useful in diagnosis, prognosis and better understanding of the pathophysiology of Wilson's disease (WD). We aimed to describe and correlate the MRI abnormalities of the brain with clinical features in WD. MRI evaluation was carried out in 100 patients (57 males, 43 females; mean age 19.3{+-}8.9 years) using standard protocols. All but 18 patients were on de-coppering agents. Their history, clinical manifestations and scores for severity of disease were noted. The mean duration of illness and treatment were 8.3{+-}10.8 years and 7.5{+-}7.1 years respectively. MRI of the brain was abnormal in all the 93 symptomatic patients. The most conspicuous observations were atrophy of the cerebrum (70%), brainstem (66%) and cerebellum (52%). Signal abnormalities were also noted: putamen (72%), caudate (61%), thalami (58%), midbrain (49%), pons (20%), cerebral white matter (25%), cortex (9%), medulla (12%) and cerebellum (10%). The characteristic T2-W globus pallidal hypointensity (34%), ''Face of giant panda'' sign (12%), T1-W striatal hyperintensity (6%), central pontine myelinosis (7%), and bright claustral sign (4%) were also detected. MRI changes correlated with disease severity scores (P<0.001) but did not correlate with the duration of illness. MRI changes were universal but diverse and involved almost all the structures of the brain in symptomatic patients. A fair correlation between MRI observations and various clinical features provides an explanation for the protean manifestations of the disease. (orig.)

  2. Brain MRI and SPECT in the diagnosis of early neurological involvement in Wilson's disease

    International Nuclear Information System (INIS)

    Piga, Mario; Satta, Loredana; Serra, Alessandra; Loi, Gianluigi; Murru, Alessandra; Demelia, Luigi; Sias, Alessandro; Marrosu, Francesco

    2008-01-01

    To evaluate the impact of brain MRI and single-photon emission computed tomography (SPECT) in early detection of central nervous system abnormalities in patients affected by Wilson's disease (WD) with or without neurological involvement. Out of 25 consecutive WD patients, 13 showed hepatic involvement, ten hepatic and neurological manifestations, and twp hepatic, neurological, and psychiatric symptoms, including mainly movement disorders, major depression, and psychosis. Twenty-four healthy, age-gender matched subjects served as controls. All patients underwent brain MRI and 99m Tc-ethyl-cysteinate dimer (ECD) SPECT before starting specific therapy. Voxel-by-voxel analyses were performed using statistical parametric mapping to compare differences in 99m Tc-ECD brain uptake between the two groups. Brain MRI showed T2-weighted hyperintensities in seven patients (28%), six of whom were affected by hepatic and neurological forms. Brain perfusion SPECT showed pathological data in 19 patients (76%), revealing diffuse or focal hypoperfusion in superior frontal (Brodmann area (BA) 6), prefrontal (BA 9), parietal (BA 40), and occipital (BA 18, BA 39) cortices in temporal gyri (BA 37, BA 21) and in caudatus and putamen. Moreover, hepatic involvement was detected in nine subjects; eight presented both hepatic and neurological signs, while two exhibited WD-correlated hepatic, neurological, and psychiatric alterations. All but one patient with abnormal MRI matched with abnormal ECD SPECT. Pathologic MRI findings were obtained in six out of ten patients with hepatic and neurological involvement while abnormal ECD SPECT was revealed in eight patients. Both patients with hepatic, neurological, and psychiatric involvement displayed abnormal ECD SPECT and one displayed an altered MRI. These findings suggest that ECD SPECT might be useful in detecting early brain damage in WD, not only in the perspective of assessing and treating motor impairment but also in evaluating better the

  3. Study on intelligence level and intelligence structure in brain type patients with Wilson's disease%脑型Wilson病患者智力水平及智力结构的研究

    Institute of Scientific and Technical Information of China (English)

    李波; 王共强; 韩咏竹; 韩永升; 马心峰

    2014-01-01

    Objective Through conducting neuropsychological test to evaluate crystallized intelligence and fluid intelligence of brain type patients with Wilson's disease ( WD) ,to analyze the characteristics of intelligence structure changing and other related factors .Methods Wechsler intelligence test and Raven's standard progressive matrices ( R'SPM) were conducted among 32 brain type WD patients ,in order to assess crystallized intelligence and fluid intelligence .The diversities of patients crystallized intelligence , fluid intelligence and other related factors were analysed by using SPSS 11.5 software.Results 43.75%brain type WD patients showed a decrease in crystallized intelligence while 78.13%patients showed fluid intelligence drop .Moreover,Raven's standard progressive matrices intelligence quotient (RWIQ) ranking was significantly less than full measuring scale intelligence quotient (FIQ) (P0.05).Conclusion Brain type WD pa-tients'intelligence structure has unbalanced damage ,and fluid intelligence decreases more obviously than crystallized intelligence .The fluid in-telligence and crystallized intelligence cannot replace with each other .%目的:通过神经心理学测验评估脑型Wilson病(Wilson's disease,WD)患者晶体智力和流体智力水平,探讨其智力结构变化的特点及相关因素。方法选取32例脑型WD患者为研究对象,采用韦氏智力量表、瑞文标准推理测验( R′SPM )进行晶体智力和流体智力测评,运用SPSS 11.5软件分析患者的晶体智力、流体智力变化及相关因素。结果43.75%脑型WD患者晶体智力水平下降,78.13%脑型WD患者流体智力水平下降,瑞文标准推理测验智商(RWIQ)得分低于韦氏智力测定全量表智商(FIQ)得分(P<0.05);韦氏智力测定言语量表智商(VIQ)、韦氏智力测定操作量表智商(PIQ)与FIQ呈正相关(P<0.05),瑞文标准推理测验E分测验(RWE)

  4. Wilson's disease: 31P and 1H MR spectroscopy and clinical correlation

    International Nuclear Information System (INIS)

    Sinha, Sanjib; Taly, A.B.; Prashanth, L.K.; Ravishankar, S.; Vasudev, M.K.

    2010-01-01

    Proton ( 1 H) magnetic resonance spectroscopy (MRS) changes are noted in Wilson's disease (WD). However, there are no studies regarding membrane phospholipid abnormality using 31 P MRS in these patients. We aimed to analyze the striatal spectroscopic abnormalities using 31 P and 1 H MRS in WD. Forty patients of WD (treated, 29; untreated,11) and 30 controls underwent routine MR image sequences and in vivo 2-D 31 P and 1 H MRS of basal ganglia using an image-selected technique on a 1.5-T MRI scanner. Statistical analysis was done using Student's t test. The mean durations of illness and treatment were 6.2 ± 7.4 and 4.8 ± 5.9 years, respectively. MRI images were abnormal in all the patients. 1 H MRS revealed statistically significant reduction of N-acetyl aspartate (NAA)/choline (Cho) and NAA/creatine ratios in striatum ( 1 H MRS) of treated patients compared to controls. The mean values of phosphomonoesters (PME) (p 31 P MRS study. The duration of illness correlated well with increased PME/PDE [p < 0.001], PME/TPh [p < 0.05], and PDE/TPh [p < 0.05] and decreased NAA/Cho [p < 0.05] ratios. There was correlation of MRI score and reduced NAA/Cho ratio with disease severity. The PME/PDE ratio (right) was elevated in the treated group [p < 0.001] compared to untreated group. There is reduced breakdown and/or increased synthesis of membrane phospholipids and increased neuronal damage in basal ganglia in patients with WD. (orig.)

  5. Biopolymer strategy for the treatment of Wilson´s disease

    Czech Academy of Sciences Publication Activity Database

    Vetrík, Miroslav; Mattová, J.; Macková, Hana; Kučka, Jan; Poučková, P.; Kukačková, Olivia; Brus, Jiří; Eigner-Henke, S.; Sedláček, Ondřej; Šefc, L.; Štěpánek, Petr; Hrubý, Martin

    2018-01-01

    Roč. 273, 10 March (2018), s. 131-138 ISSN 0168-3659 R&D Projects: GA ČR(CZ) GA16-02870S; GA MZd(CZ) NV15-25781A; GA MŠk(CZ) LM2015064; GA MŠk(CZ) LO1507 Institutional support: RVO:61389013 Keywords : Wilson's disease * copper chelators * biopolymers Subject RIV: CD - Macromolecular Chemistry OBOR OECD: Polymer science Impact factor: 7.786, year: 2016

  6. Wilson's disease: two treatment modalities. Correlations to pretreatment and posttreatment brain MRI

    Energy Technology Data Exchange (ETDEWEB)

    Leiros da Costa, Maria do Desterro [Federal University of Paraiba, Movement Disorders Unit, Paraiba (Brazil); Spitz, Mariana; Bacheschi, Luiz Alberto; Barbosa, Egberto Reis [University of Sao Paulo, Movement Disorders Unit, Sao Paulo (Brazil); Leite, Claudia Costa; Lucato, Leandro Tavares [University of Sao Paulo, Department of Radiology, Sao Paulo (Brazil)

    2009-10-15

    Brain magnetic resonance imaging (MRI) studies on Wilson's disease (WD) show lack of correlations between neurological and neuroimaging features. Long-term follow-up reports with sequential brain MRI in patients with neurological WD comparing different modalities of treatment are scarce. Eighteen patients with neurological WD underwent pretreatment and posttreatment brain MRI scans to evaluate the range of abnormalities and the evolution along these different periods. All patients underwent at least two MRI scans at different intervals, up to 11 years after the beginning of treatment. MRI findings were correlated with clinical picture, clinical severity, duration of neurological symptoms, and treatment with two different drugs. Patients were divided into two groups according to treatment: d-penicillamine (D-P), zinc (Zn), and Zn after the onset of severe intolerance to D-P. MRI scans before treatment showed, in all patients, hypersignal intensity lesions on T2- and proton-density-weighted images bilaterally and symmetrically at basal nuclei, thalamus, brain stem, cerebellum, brain cortex, and brain white matter. The most common neurological symptoms were: dysarthria, parkinsonism, dystonia, tremor, psychiatric disturbances, dysphagia, risus sardonicus, ataxia, chorea, and athetosis. From the neurological point of view, there was no difference on the evolution between the group treated exclusively with D-P and the one treated with Zn. Analysis of MRI scans with longer intervals after the beginning of treatment depicted a trend for neuroimaging worsening, without neurological correspondence, among patients treated with Zn. Neuroimaging pattern of evolution was more favorable for the group that received exclusively D-P. (orig.)

  7. Wilson's disease: two treatment modalities. Correlations to pretreatment and posttreatment brain MRI

    International Nuclear Information System (INIS)

    Leiros da Costa, Maria do Desterro; Spitz, Mariana; Bacheschi, Luiz Alberto; Barbosa, Egberto Reis; Leite, Claudia Costa; Lucato, Leandro Tavares

    2009-01-01

    Brain magnetic resonance imaging (MRI) studies on Wilson's disease (WD) show lack of correlations between neurological and neuroimaging features. Long-term follow-up reports with sequential brain MRI in patients with neurological WD comparing different modalities of treatment are scarce. Eighteen patients with neurological WD underwent pretreatment and posttreatment brain MRI scans to evaluate the range of abnormalities and the evolution along these different periods. All patients underwent at least two MRI scans at different intervals, up to 11 years after the beginning of treatment. MRI findings were correlated with clinical picture, clinical severity, duration of neurological symptoms, and treatment with two different drugs. Patients were divided into two groups according to treatment: d-penicillamine (D-P), zinc (Zn), and Zn after the onset of severe intolerance to D-P. MRI scans before treatment showed, in all patients, hypersignal intensity lesions on T2- and proton-density-weighted images bilaterally and symmetrically at basal nuclei, thalamus, brain stem, cerebellum, brain cortex, and brain white matter. The most common neurological symptoms were: dysarthria, parkinsonism, dystonia, tremor, psychiatric disturbances, dysphagia, risus sardonicus, ataxia, chorea, and athetosis. From the neurological point of view, there was no difference on the evolution between the group treated exclusively with D-P and the one treated with Zn. Analysis of MRI scans with longer intervals after the beginning of treatment depicted a trend for neuroimaging worsening, without neurological correspondence, among patients treated with Zn. Neuroimaging pattern of evolution was more favorable for the group that received exclusively D-P. (orig.)

  8. Wilson?s disease presenting as rapid eye movement sleep behavior disorder: a possible window to early treatment

    Directory of Open Access Journals (Sweden)

    Gotthard G. Tribl

    2014-09-01

    Full Text Available Objective To describe characteristics of REM sleep behavior disorder in Wilson’s disease. Method Questionnaire-based interviews (patients and relatives, neurological examinations, two-week prospective dream-diary, video-polysomnography, transcranial sonography, MRI. Results Four Wilson’s disease cases with REM sleep behavior disorder were described; three had REM sleep behavior disorder as initial symptom. All showed mesencephalic tegmental/tectal sonographic hyperechogenicities and two presented ponto-mesencephalic tegmental MRI hyperintensities. Conclusion This first description of REM sleep behavior disorder in Wilson’s disease in literature documents REM sleep behavior disorder as a possible presenting symptom of Wilson’s disease and adds further evidence to the parallelism of Parkinson’s disease and Wilson’s disease in phenotype and brainstem topography, which ought to be further studied. REM sleep behavior disorder has prognostic relevance for neurodegeneration in α-synucleinopathies. In Wilson’s disease, usefulness of early diagnosis and treatment are already well established. REM sleep behavior disorder in Wilson’s disease offers a possible theoretical model for potential early treatment in this extrapyramidal and brainstem paradigm syndrome, previewing the possibility of neuroprotective treatment for REM sleep behavior disorder in “pre-clinical” Parkinson’s disease.

  9. Discontinuation of penicillamine in the absence of alternative orphan drugs (trientine-zinc): a case of decompensated liver cirrhosis in Wilson's disease.

    Science.gov (United States)

    Ping, C C; Hassan, Y; Aziz, N A; Ghazali, R; Awaisu, A

    2007-02-01

    To report a case of early-decompensated liver cirrhosis secondary to discontinuation of penicillamine therapy in a patient with Wilson's disease. A 33-year-old Chinese female patient was diagnosed with Wilson's disease, for which penicillamine 250 mg p.o. once daily was prescribed. However, the patient developed intolerance and penicillamine was discontinued without alternative treatment. Five months later, she developed decompensated liver cirrhosis with hepatic encephalopathy. Eventually, the patient died because of the complications of sepsis and decompensated liver failure. Chelating agent is the mainstay of treatment in Wilson's disease, which is an inherited disorder of hepatic copper metabolism. Therapy must be instituted and continued for life once diagnosis is confirmed. Interruption of therapy can be fatal or cause irreversible relapse. Penicillamine given orally is the chelating agent of first choice. However, its unfavourable side-effects profile leads to discontinuation of therapy in 20-30% of patients. In most case reports, cessation of penicillamine without replacement treatment causes rapid progression to fulminant hepatitis, which is fatal unless liver transplantation is performed. In this, we highlight a case of discontinuation of penicillamine in a patient with Wilson's disease without substitution with alternative regimen. This was caused by unavailability of the alternative agents such as trientine in our country. Consequently, the patient progressed to decompensated liver cirrhosis with encephalopathy and eventually passed-away within 5 months. One recent study supports a combination of trientine and zinc in treating patient with decompensated liver cirrhosis. This combination is capable of reversing liver failure and prevents the need of liver transplantation. Both trientine and zinc are not registered in Malaysia. Therefore, liver transplantation was probably the only treatment option for this patient. Hence, non-availability of orphan drugs

  10. Wilson Disease

    Science.gov (United States)

    ... and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis. WD is diagnosed with tests that ... and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis. WD is diagnosed with tests that ...

  11. Wilson Disease

    Science.gov (United States)

    ... helps the body digest fats and the fat-soluble vitamins A, D, E, and K. removing waste products ... pipes may pick up copper residue, but running water lowers the level to within ... use of vitamins and dietary supplements, with their health care provider. ...

  12. Wilson disease

    Science.gov (United States)

    Symptoms may include: Abnormal posture of arms and legs Confusion or delirium Dementia Difficulty moving arms and legs, stiffness Difficulty walking (ataxia) Emotional or behavioral changes Enlargement of ...

  13. Wilson's disease: Rapid diagnosis and differentiation of heterozygous and homozygous carriers with 64CuCl2

    International Nuclear Information System (INIS)

    Wesch, H.; Przuntek, H.; Feist, D.; Wuerzburg Univ.; Heidelberg Univ.

    1980-01-01

    In the modified radiocopper test, a constant amount of copper and not of radioactivity is injected, a difference being made between males and females. The rate of incorporation of 64 Cu into caeruloplasmin and urinary excretion of nuclides is measured. It is a method with low radiation exposure, providing a definite diagnosis after 30 hours. This was demonstrated in 27 homozygous patients, 30 parents and 33 siblings, and 25 controls: a clear-cut diagnosis was made in all untreated homozygous patients. In five of eight patients treated with D-penicillamine for several years, the values were in the range of heterozygotes, so that the test makes treatment control possible. The recognition of heterozygous carriers is interfered with by contraceptives and infections. The results in control subjects were all widely outside the range for patients with Wilson's disease. (orig.) [de

  14. Disartria na doença de Wilson: análise de dois casos em fases distintas Dysarthria in Wilson's disease: analysis of two cases in different stages

    Directory of Open Access Journals (Sweden)

    Natália Casagrande Brabo

    2010-06-01

    Full Text Available TEMA: disartria na Doença de Wilson. PROCEDIMENTOS: estudo de caso de dois pacientes com o diagnóstico da doença, ambos adultos jovens, do sexo feminino e com seis anos de escolaridade. Quatro fonoaudiólogas realizaram a avaliação perceptivo-auditiva de modo independente, na qual foram investigados os seguintes parâmetros: tipo de voz, loudness, pitch, ataque vocal, instabilidade fonatória e ressonância. O grau de alteração de cada parâmetro foi mensurado através de uma escala analógico-visual. Além disso, foram obtidas medidas de inteligibilidade por transcrição ortográfica. A análise acústica foi realizada por meio do programa Praat, com a obtenção de medidas de frequência fundamental, de perturbação e ruído e medidas temporais. RESULTADOS: a fala de ambos os pacientes foi caracterizada por: redução do tempo máximo de fonação, voz soprosa e tensa, ataques vocais aspirados, instabilidade vocal, aumento de shimmer e proporção ruído-harmônico, hipernasalidade, redução da diadococinesia oral, da inteligibilidade e da velocidade da fala. Os resultados obtidos sugeriram que o paciente que cursa com a Doença de Wilson há mais tempo, apresentou prejuízo mais acentuado na maioria dos parâmetros perceptuais e acústicos analisados. CONCLUSÃO: foram identificadas manifestações comuns entre os casos, as quais podem constituir-se em traços característicos da fala de pacientes disártricos com Doença de Wilson. Todavia, diferenças também foram evidenciadas, as quais podem estar relacionadas ao tempo de evolução da doença.BACKGROUND: dysarthria in Wilson's disease. PROCEDURES: case study of two patients with disease's diagnosis, both young female adults, with six years of schooling. Perceptual analysis was done by four speech therapists. The following parameters were assessed: voice quality, loudness, pitch, vocal attack, vocal stability and resonance, as well as the degree of deviated parameters, measured

  15. Mowat-Wilson syndrome: neurological and molecular study in seven patients

    Directory of Open Access Journals (Sweden)

    José Albino da Paz

    2015-01-01

    Full Text Available Objective To present a seven-cases serie of Mowat-Wilson syndrome (MWS. Method All patients with positive mutation for the ZEB2 were evaluated by a geneticist and a neurologist, with clinical and laboratorial characterization. Results A peculiar facies and mental retardation were present in all patients. The Denver II scale showed intense delay in all aspects, especially fine motor and adaptive. Acquired microcephaly was observed in five patients. Only one patient did not present epilepsy. Epilepsy was focal and predominating in sleep, with status epilepticus in three patients. The initial seizure was associated with fever in most patients (4/6. The EEG showed epileptic focal activity (5/7. The imaging studies revealed total agenesis (4/7 and partial agenesis of the corpus callosum (1/7. Conclusion Physicians who care for patients with mental retardation and epilepsy should be aware of SMW.

  16. Dream Recall Frequencies and Dream Content in Wilson's Disease with and without REM Sleep Behaviour Disorder: A Neurooneirologic Study.

    Science.gov (United States)

    Tribl, Gotthard G; Trindade, Mateus C; Schredl, Michael; Pires, Joana; Reinhard, Iris; Bittencourt, Thais; Lorenzi-Filho, Geraldo; Alves, Rosana Cardoso; de Andrade, Daniel Ciampi; Fonoff, Erich T; Bor-Seng-Shu, Edson; Machado, Alexandre A; Teixeira, Manoel J; Barbosa, Egberto R

    2016-01-01

    Objective. Violent dream content and its acting out during rapid eye movement sleep are considered distinctive for rapid eye movement sleep behaviour disorder (RBD). This study reports first quantitative data on dreaming in a cohort of patients with treated Wilson's disease (WD) and in patients with WD with RBD. Methods. Retrospective questionnaires on different dimensions of dreaming and a prospective two-week home dream diary with self-rating of emotions and blinded, categorical rating of content by an external judge. Results. WD patients showed a significantly lower dream word count and very few other differences in dream characteristics compared to age- and sex-matched healthy controls. Compared to WD patients without RBD, patients with WD and RBD reported significantly higher nightmare frequencies and more dreams with violent or aggressive content retrospectively; their prospectively collected dream reports contained significantly more negative emotions and aggression. Conclusions. The reduction in dream length might reflect specific cognitive deficits in WD. The lack of differences regarding dream content might be explained by the established successful WD treatment. RBD in WD had a strong impact on dreaming. In accordance with the current definition of RBD, violent, aggressive dream content seems to be a characteristic of RBD also in WD.

  17. Wilson's Disease in Children : A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition

    NARCIS (Netherlands)

    Socha, Piotr; Janczyk, Wojciech; Dhawan, Anil; Baumann, Ulrich; D'Antiga, Lorenzo; Tanner, Stuart; Iorio, Raffaele; Vajro, Pietro; Houwen, Roderick; Fischler, Björn; Dezsofi, Antal; Hadzic, Nedim; Hierro, Loreto; Jahnel, Jörg; McLin, Valérie; Nobili, Valerio; Smets, Francoise; Verkade, Henkjan J.; Debray, Dominique

    BACKGROUND: Clinical presentations of Wilson's disease (WD) in childhood ranges from asymptomatic liver disease to cirrhosis or acute liver failure, whereas neurological and psychiatric symptoms are rare. The basic diagnostic approach includes serum ceruloplasmin and 24-hour urinary copper

  18. The plant decapeptide OSIP108 prevents copper-induced toxicity in various models for Wilson disease

    Energy Technology Data Exchange (ETDEWEB)

    Spincemaille, Pieter [Centre of Microbial and Plant Genetics (CMPG), KU Leuven, Kasteelpark Arenberg 20, 3001 Heverlee (Belgium); Pham, Duc-Hung [Laboratory for Molecular Biodiscovery, KU Leuven, Campus Gasthuisberg, Herestraat 49, O and N2, 3000 Leuven (Belgium); Chandhok, Gursimran [Clinic for Transplantation Medicine, Münster University Hospital, Albert-Schweitzer-Campus 1, Building A14, D-48149 Münster (Germany); Verbeek, Jef [Department of Hepatology and Metabolic Center, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven (Belgium); Zibert, Andree [Clinic for Transplantation Medicine, Münster University Hospital, Albert-Schweitzer-Campus 1, Building A14, D-48149 Münster (Germany); Libbrecht, Louis [Department of Hepatology and Metabolic Center, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven (Belgium); Department of Pathology, University Hospital Ghent, De Pintelaan 185, 9000 Ghent (Belgium); Schmidt, Hartmut [Clinic for Transplantation Medicine, Münster University Hospital, Albert-Schweitzer-Campus 1, Building A14, D-48149 Münster (Germany); Esguerra, Camila V.; Witte, Peter A.M. de [Laboratory for Molecular Biodiscovery, KU Leuven, Campus Gasthuisberg, Herestraat 49, O and N2, 3000 Leuven (Belgium); Cammue, Bruno P.A., E-mail: bruno.cammue@biw.kuleuven.be [Centre of Microbial and Plant Genetics (CMPG), KU Leuven, Kasteelpark Arenberg 20, 3001 Heverlee (Belgium); Department of Plant Systems Biology, VIB, Technologiepark 927, 9052 Ghent (Belgium); Cassiman, David [Department of Hepatology and Metabolic Center, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven (Belgium); Thevissen, Karin [Centre of Microbial and Plant Genetics (CMPG), KU Leuven, Kasteelpark Arenberg 20, 3001 Heverlee (Belgium)

    2014-10-15

    Background: Wilson disease (WD) is caused by accumulation of excess copper (Cu) due to a mutation in the gene encoding the liver Cu transporter ATP7B, and is characterized by acute liver failure or cirrhosis and neuronal cell death. We investigated the effect of OSIP108, a plant derived decapeptide that prevents Cu-induced apoptosis in yeast and human cells, on Cu-induced toxicity in various mammalian in vitro models relevant for WD and in a Cu-toxicity zebrafish larvae model applicable to WD. Methods: The effect of OSIP108 was evaluated on viability of various cell lines in the presence of excess Cu, on liver morphology of a Cu-treated zebrafish larvae strain that expresses a fluorescent reporter in hepatocytes, and on oxidative stress levels in wild type AB zebrafish larvae. Results: OSIP108 increased not only viability of Cu-treated CHO cells transgenically expressing ATP7B and the common WD-causing mutant ATP7B{sup H1069Q}, but also viability of Cu-treated human glioblastoma U87 cells. Aberrancies in liver morphology of Cu-treated zebrafish larvae were observed, which were further confirmed as Cu-induced hepatotoxicity by liver histology. Injections of OSIP108 into Cu-treated zebrafish larvae significantly increased the amount of larvae with normal liver morphology and decreased Cu-induced production of reactive oxygen species. Conclusions: OSIP108 prevents Cu-induced toxicity in in vitro models and in a Cu-toxicity zebrafish larvae model applicable to WD. General significance: All the above data indicate the potential of OSIP108 as a drug lead for further development as a novel WD treatment. - Highlights: • Wilson disease (WD) is characterized by accumulation of toxic copper (Cu). • OSIP108 increases viability of Cu-treated cellular models applicable to WD. • OSIP108 injections preserve liver morphology of Cu-treated zebrafish larvae. • OSIP108 injections into zebrafish larvae abrogates Cu-induced oxidative stress.

  19. Brain MRI and SPECT in the diagnosis of early neurological involvement in Wilson's disease

    Energy Technology Data Exchange (ETDEWEB)

    Piga, Mario; Satta, Loredana; Serra, Alessandra; Loi, Gianluigi [Policlinico Universitario, University of Cagliari, Nuclear Medicine, Department of Medical Science, Monserrato, Cagliari (Italy); Murru, Alessandra; Demelia, Luigi [Policlinico Universitario, University of Cagliari, Gastroenterology, Department of Medical Science, Monserrato, Cagliari (Italy); Sias, Alessandro [Policlinico Universitario, University of Cagliari, Radiology, Department of Medical Science, Monserrato, Cagliari (Italy); Marrosu, Francesco [Policlinico Universitario, University of Cagliari, Neurology, Department of Medical Science, Monserrato, Cagliari (Italy)

    2008-04-15

    To evaluate the impact of brain MRI and single-photon emission computed tomography (SPECT) in early detection of central nervous system abnormalities in patients affected by Wilson's disease (WD) with or without neurological involvement. Out of 25 consecutive WD patients, 13 showed hepatic involvement, ten hepatic and neurological manifestations, and twp hepatic, neurological, and psychiatric symptoms, including mainly movement disorders, major depression, and psychosis. Twenty-four healthy, age-gender matched subjects served as controls. All patients underwent brain MRI and {sup 99m}Tc-ethyl-cysteinate dimer (ECD) SPECT before starting specific therapy. Voxel-by-voxel analyses were performed using statistical parametric mapping to compare differences in {sup 99m}Tc-ECD brain uptake between the two groups. Brain MRI showed T2-weighted hyperintensities in seven patients (28%), six of whom were affected by hepatic and neurological forms. Brain perfusion SPECT showed pathological data in 19 patients (76%), revealing diffuse or focal hypoperfusion in superior frontal (Brodmann area (BA) 6), prefrontal (BA 9), parietal (BA 40), and occipital (BA 18, BA 39) cortices in temporal gyri (BA 37, BA 21) and in caudatus and putamen. Moreover, hepatic involvement was detected in nine subjects; eight presented both hepatic and neurological signs, while two exhibited WD-correlated hepatic, neurological, and psychiatric alterations. All but one patient with abnormal MRI matched with abnormal ECD SPECT. Pathologic MRI findings were obtained in six out of ten patients with hepatic and neurological involvement while abnormal ECD SPECT was revealed in eight patients. Both patients with hepatic, neurological, and psychiatric involvement displayed abnormal ECD SPECT and one displayed an altered MRI. These findings suggest that ECD SPECT might be useful in detecting early brain damage in WD, not only in the perspective of assessing and treating motor impairment but also in evaluating

  20. Woodrow Wilson's hidden stroke of 1919: the impact of patient-physician confidentiality on United States foreign policy.

    Science.gov (United States)

    Menger, Richard P; Storey, Christopher M; Guthikonda, Bharat; Missios, Symeon; Nanda, Anil; Cooper, John M

    2015-07-01

    World War I catapulted the United States from traditional isolationism to international involvement in a major European conflict. Woodrow Wilson envisaged a permanent American imprint on democracy in world affairs through participation in the League of Nations. Amid these defining events, Wilson suffered a major ischemic stroke on October 2, 1919, which left him incapacitated. What was probably his fourth and most devastating stroke was diagnosed and treated by his friend and personal physician, Admiral Cary Grayson. Grayson, who had tremendous personal and professional loyalty to Wilson, kept the severity of the stroke hidden from Congress, the American people, and even the president himself. During a cabinet briefing, Grayson formally refused to sign a document of disability and was reluctant to address the subject of presidential succession. Wilson was essentially incapacitated and hemiplegic, yet he remained an active president and all messages were relayed directly through his wife, Edith. Patient-physician confidentiality superseded national security amid the backdrop of friendship and political power on the eve of a pivotal juncture in the history of American foreign policy. It was in part because of the absence of Woodrow Wilson's vocal and unwavering support that the United States did not join the League of Nations and distanced itself from the international stage. The League of Nations would later prove powerless without American support and was unable to thwart the rise and advance of Adolf Hitler. Only after World War II did the United States assume its global leadership role and realize Wilson's visionary, yet contentious, groundwork for a Pax Americana. The authors describe Woodrow Wilson's stroke, the historical implications of his health decline, and its impact on United States foreign policy.

  1. Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

    Directory of Open Access Journals (Sweden)

    Ricardo Schmitt de Bem

    2013-08-01

    Full Text Available OBJECTIVE: Wilson's disease (WD is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil. METHODS: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. RESULTS: Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1% followed by the c.3402delC at exon 15 (allelic frequency=11.4%. The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time. CONCLUSION: The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.

  2. Spatial investigation of the elemental distribution in Wilson's disease liver after d-penicillamine treatment by LA-ICP-MS.

    Science.gov (United States)

    Hachmöller, Oliver; Zibert, Andree; Zischka, Hans; Sperling, Michael; Groba, Sara Reinartz; Grünewald, Inga; Wardelmann, Eva; Schmidt, Hartmut H-J; Karst, Uwe

    2017-12-01

    At present, the copper chelator d-penicillamine (DPA) is the first-line therapy of Wilson's disease (WD), which is characterized by an excessive copper overload. Lifelong DPA treatments aim to reduce the amount of detrimental excess copper retention in the liver and other organs. Although DPA shows beneficial effect in many patients, it may cause severe adverse effects. Despite several years of copper chelation therapy, discontinuation of DPA therapy can be linked to a rapidly progressing liver failure, indicating a high residual liver copper load. In order to investigate the spatial distribution of remaining copper and additional elements, such as zinc and iron, in rat and human liver samples after DPA treatment, a high resolution (spotsize of 10μm) laser ablation-inductively coupled plasma-mass spectrometry (LA-ICP-MS) imaging method was applied. Untreated LPP -/- rats, an established animal model for WD, appeared with a high overall copper concentration and a copper distribution of hotspots distributed over the liver tissue. In contrast, a low (>2-fold decreased) overall copper concentration was detected in liver of DPA treated animals. Importantly, however, copper distribution was highly inhomogeneous with lowest concentrations in direct proximity to blood vessels, as observed using novel zonal analysis. A human liver needle biopsy of a DPA treated WD patient substantiated the finding of an inhomogeneous copper deposition upon chelation therapy. In contrast, comparatively homogenous distributions of zinc and iron were observed. Our study indicates that a high resolution LA-ICP-MS analysis of liver samples is excellently suited to follow efficacy of chelator therapy in WD patients. Copyright © 2017 Elsevier GmbH. All rights reserved.

  3. Wilson's disease: {sup 31}P and {sup 1}H MR spectroscopy and clinical correlation

    Energy Technology Data Exchange (ETDEWEB)

    Sinha, Sanjib; Taly, A.B.; Prashanth, L.K. [National Institute of Mental Health and Neurosciences (NIMHANS), Department of Neurology, Bangalore (India); Ravishankar, S.; Vasudev, M.K. [National Institute of Mental Health and Neurosciences (NIMHANS), Department of Neuroimaging and Interventional Radiology, Bangalore (India)

    2010-11-15

    Proton ({sup 1}H) magnetic resonance spectroscopy (MRS) changes are noted in Wilson's disease (WD). However, there are no studies regarding membrane phospholipid abnormality using {sup 31}P MRS in these patients. We aimed to analyze the striatal spectroscopic abnormalities using {sup 31}P and {sup 1}H MRS in WD. Forty patients of WD (treated, 29; untreated,11) and 30 controls underwent routine MR image sequences and in vivo 2-D {sup 31}P and {sup 1}H MRS of basal ganglia using an image-selected technique on a 1.5-T MRI scanner. Statistical analysis was done using Student's t test. The mean durations of illness and treatment were 6.2 {+-} 7.4 and 4.8 {+-} 5.9 years, respectively. MRI images were abnormal in all the patients. {sup 1}H MRS revealed statistically significant reduction of N-acetyl aspartate (NAA)/choline (Cho) and NAA/creatine ratios in striatum ({sup 1}H MRS) of treated patients compared to controls. The mean values of phosphomonoesters (PME) (p < 0.0001), phosphodiesters (PDE) (p < 0.0001), and total phosphorus (TPh) (p < 0.0001) were elevated in patients compared to controls. Statistically significant elevated levels of ratio of PME/PDE (p = 0.05) observed in the striatum were noted in treated patients as compared to controls in the {sup 31}P MRS study. The duration of illness correlated well with increased PME/PDE [p < 0.001], PME/TPh [p < 0.05], and PDE/TPh [p < 0.05] and decreased NAA/Cho [p < 0.05] ratios. There was correlation of MRI score and reduced NAA/Cho ratio with disease severity. The PME/PDE ratio (right) was elevated in the treated group [p < 0.001] compared to untreated group. There is reduced breakdown and/or increased synthesis of membrane phospholipids and increased neuronal damage in basal ganglia in patients with WD. (orig.)

  4. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

    DEFF Research Database (Denmark)

    Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe

    2018-01-01

    PurposeMowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to be...

  5. Wilson's Disease in Children : A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition

    NARCIS (Netherlands)

    Socha, Piotr; Janczyk, Wojciech; Dhawan, Anil; Baumann, Ulrich; D'Antiga, Lorenzo; Tanner, Stuart; Iorio, Raffaele; Vajro, Pietro; Houwen, Roderick; Fischler, Björn; Dezsofi, Antal; Hadzic, Nedim; Hierro, Loreto; Jahnel, Jörg; McLin, Valérie; Nobili, Valerio; Smets, Francoise; Verkade, Henkjan J; Debray, Dominique

    Background:Clinical presentations of Wilson's disease (WD) in childhood ranges from asymptomatic liver disease to cirrhosis or acute liver failure, whereas neurological and psychiatric symptoms are rare. The basic diagnostic approach includes serum ceruloplasmin and 24-hour urinary copper excretion.

  6. Esclusa Wilson

    Directory of Open Access Journals (Sweden)

    Editorial, Equipo

    1959-11-01

    Full Text Available En la presa Wilson, construida sobre el río Tennessee, ya existía una esclusa y canal que permitía la navegación fluvial por el río. Este rio tiene un curso de difícil navegación en una extensión próxima a la presa, pero la construcción de canales y esclusas ha permitido mejorar estas vías navegables. Estos últimos años ha aumentado tanto la navegación, que la esclusa existente no bastaba para hacer frente al paso de tantas embarcaciones dedicadas al transporte de mercancías que, aún en competencia con él transporte por ferrocarril y carretera, ha llegado a un volumen anual de unos trece millones de toneladas.

  7. Influence of IL-1RN intron 2 variable number of tandem repeats (VNTR) polymorphism on the age at onset of neuropsychiatric symptoms in Wilson's disease.

    Science.gov (United States)

    Gromadzka, Grazyna; Członkowska, Anna

    2011-01-01

    ABSTRACT Wilson's disease (WND) is an autosomal recessive copper storage disease characterized with diverse clinical pictures with the hepatic and/or neuropsychiatric symptoms manifesting at variable age. On the basis of the existing knowledge on possible copper-proinflammatory cytokines interactions, we hypothesized that in WND hereditary, over-/underexpression of PC or anti-inflammatory cytokines may have an impact on the course of the disease. We analyzed the clinical manifestations of WND in relationship to polymorphisms within genes for interleukin-1 receptor antagonist (IL1RN intron 2 VNTR polymorphism), interleukin-1α (IL1A G4845T), IL-1β (IL1B C-511T), IL-6 (IL6 G-174C), and tumor necrosis factor (TNF G-308A) in a total sample of 332 patients. The IL1B C-511T and IL1RN VNTR polymorphisms had an impact on copper metabolism parameters. None of the studied gene polymorphisms had effect on the mode of WND manifestation (neuropsychiatric vs. hepatic). Carriership of the IL1RN *2 allele was related to earlier WND onset, especially among patients with neuropsychiatric form of the disease (median 27.5 vs. 32.0 years, p = .003). Because of the crucial modulatory role of IL1ra on IL-1α and IL-1β proinflammatory functions, IL1ra and its interactions may play a role in the pathogenesis of the neurodegenerative process in WND; our results need to be replicated, possibly in different ethnic groups.

  8. Identification of p38 MAPK and JNK as New Targets for Correction of Wilson Disease-Causing ATP7B Mutants

    NARCIS (Netherlands)

    Chesi, Giancarlo; Hegde, Ramanath N.; Iacobacci, Simona; Concilli, Mafalda; Parashuraman, Seetharaman; Festa, Beatrice Paola; Polishchuk, Elena V.; Di Tullio, Giuseppe; Carissimo, Annamaria; Montefusco, Sandro; Canetti, Diana; Monti, Maria; Amoresano, Angela; Pucci, Piero; Sluis, van de Bart; Lutsenko, Svetlana; Luini, Alberto; Polishchuk, Roman S.

    Wilson disease (WD) is an autosomal recessive disorder that is caused by the toxic accumulation of copper (Cu) in the liver. The ATP7B gene, which is mutated in WD, encodes a multitransmembrane domain adenosine triphosphatase that traffics from the trans-Golgi network to the canalicular area of

  9. Mowat-Wilson syndrome

    Science.gov (United States)

    Garavelli, Livia; Mainardi, Paola Cerruti

    2007-01-01

    Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. The prevalence of MWS is currently unknown, but 171 patients have been reported so far. It seems probable that MWS is under-diagnosed, particularly in patients without HSCR. MWS is caused by heterozygous mutations or deletions in the Zinc finger E-box-binding homeobox 2 gene, ZEB2, previously called ZFHX1B (SIP1). To date, over 100 deletions/mutations have been reported in patients with a typical phenotype; they are frequently whole gene deletions or truncating mutations, suggesting that haploinsufficiency is the main pathological mechanism. Studies of genotype-phenotype analysis show that facial gestalt and delayed psychomotor development are constant clinical features, while the frequent and severe congenital malformations are variable. In a small number of patients, unusual mutations can lead to an atypical phenotype. The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark warranting ZEB2 mutational analysis, even in the absence of HSCR. The majority of MWS cases reported so far were sporadic, therefore the recurrence risk is low. Nevertheless, rare cases of sibling recurrence have been observed. Congenital malformations and seizures require precocious clinical

  10. Mowat-Wilson syndrome

    Directory of Open Access Journals (Sweden)

    Mainardi Paola

    2007-10-01

    Full Text Available Abstract Mowat-Wilson syndrome (MWS is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin, moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR, genitourinary anomalies (in particular hypospadias in males, congenital heart defects, agenesis of the corpus callosum and eye anomalies. The prevalence of MWS is currently unknown, but 171 patients have been reported so far. It seems probable that MWS is under-diagnosed, particularly in patients without HSCR. MWS is caused by heterozygous mutations or deletions in the Zinc finger E-box-binding homeobox 2 gene, ZEB2, previously called ZFHX1B (SIP1. To date, over 100 deletions/mutations have been reported in patients with a typical phenotype; they are frequently whole gene deletions or truncating mutations, suggesting that haploinsufficiency is the main pathological mechanism. Studies of genotype-phenotype analysis show that facial gestalt and delayed psychomotor development are constant clinical features, while the frequent and severe congenital malformations are variable. In a small number of patients, unusual mutations can lead to an atypical phenotype. The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark warranting ZEB2 mutational analysis, even in the absence of HSCR. The majority of MWS cases reported so far were sporadic, therefore the recurrence risk is low. Nevertheless, rare cases of sibling recurrence have been observed. Congenital malformations and seizures require

  11. disease patient

    Directory of Open Access Journals (Sweden)

    Setareh Mamishi

    2016-09-01

    Full Text Available Background and Purpose: Chronic granulomatous disease (CGD is an inherited disorder of the nicotinamide adenine dinucleotide phosphate (NADPH oxidase complex. This disorder results in recurrent life-threatening bacterial and fungal infections. Aspergillus species are the most common fungal infections in these patients. Case Report: Herein, we present a case of fungal infection in a girl with CGD. We confirmed aspergillosis through the positive microscopic and macroscopic examinations, as well as radiology results. Invasive aspergillosis in this patient with pneumonia, lung abscess, and osteomyelitis of the ribs was not initially treated with amphotericin B (Am B and recombinant interferon-gamma. Conclusion: Among infectious diseases, fungal infections, in particular aspergillosis, remain a serious problem in CGD patients. Considering poor clinical response and deficient immune system, rapid diagnosis of fungal infection and optimizing the treatment of these patients are recommended.

  12. Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review.

    Science.gov (United States)

    Zhang, Qi-Jie; Xu, Liu-Qing; Wang, Chong; Hu, Wei; Wang, Ning; Chen, Wan-Jin

    2016-12-01

    Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism with excellent prognosis if treated timely. However, WD is usually prone to neglect and misdiagnosis at an early stage. We reported a rare WD pedigree, and the clinical features, laboratory tests, and gene mutations were analyzed in detail. The patient was a 17-year-old and 136-cm-tall girl who presented with limb weakness, combined with multi-organ disorders including blind eye, epilepsy, and hypopituitarism. Clinical tests showed a low serum ceruloplasmin level, high urinary copper excretion and Kayser-Fleischer (K-F) rings. She carried a compound heterozygous mutations in ATP7B gene (c.2828G>A and c.3884C>T). Her younger brother, as an asymptomatic patient, manifested with elevation of transaminases but without neurological and hepatic symptoms. They were diagnosed as WD finally. They were treated with sodium dimercaptosulphonate, supplemented with zinc gluconate, vitamin B6, vitamin C, as well as restriction of dietary copper. The urinary copper excretion and serum transaminase level decreased gradually. The abnormal signals in brainstem and basal ganglia were also remarkably decreased after 4-year of de-copper treatment. As to the patients with complicated clinical manifestations, the extrapyramidal symptom and basal ganglia signals should be concerned. The serum ceruloplasmin detection and ATP7B gene mutation screening are necessary.

  13. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.

    Science.gov (United States)

    Gromadzka, Graznya; Schmidt, Harmut H J; Genschel, Janine; Bochow, Bettina; Rodo, M; Tarnacka, Beatek; Litwin, Thomas; Chabik, Grzegorz; Członkowska, Anna

    2006-02-01

    We compared the effect of the p.H1069Q mutation and other non-p.H1069Q mutations in ATP7B on the phenotypic expression of Wilson's disease (WD), and assessed whether the clinical phenotype of WD in compound heterozygotes depends on the type of mutation coexisting with the p.H1069Q. One hundred forty-two patients with clinically, biochemically, and genetically diagnosed WD were studied. The mutational analysis of ATP7B was performed by direct sequencing. A total number of 26 mutations in ATP7B were identified. The p.His1069Gln was the most common mutation (allelic frequency: 72%). Seventy-three patients were homozygous for this mutation. Of compound heterozygotes, 37 had frameshift/nonsense mutation, and 20 had other missense mutation on one of their ATP7B alleles. Twelve patients had two non-p.H1069Q mutations. Patients homozygous for the p.H1069Q mutation had the less severe disturbances of copper metabolism and the latest presentation of first WD symptoms. The most severely disturbed copper metabolism and the earliest age at initial disease manifestation was noticed in non-p.H1069Q patients. In compound heterozygotes, the type of mutation coexisting with the p.H1069Q to a small extent influenced WD phenotype. The phenotype of WD varied considerably among patients with the same genotype. The p.H1069Q mutation is associated with late WD manifestation and with a mild disruption of copper metabolism. In compound heterozygotes, the phenotype of WD to a small extent depends on the type of mutation coexisting with the p.H1069Q. Besides genotype, additional modifying factors seem to determine WD manifestations. Copyright (c) 2005 Movement Disorder Society.

  14. [A young boy with elevated aminotransferases in physical examination--Two novel missense mutations associated with Wilson's disease were found].

    Science.gov (United States)

    Zhu, Yu; Deng, Si-Yan; Wan, Chao-Min

    2015-07-01

    A 3-year-old boy had abnormal liver function, which was found in physical examination, for 5 months before admission. He had no symptoms such as anorexia, poor appetite, and jaundice, had normal growth and development, and showed no hepatosplenomegaly. Laboratory examination revealed significantly reduced ceruloplasmin (35 mg/L), as well as negative hepatotropic virus, cytomegalovirus, and Epstein-Barr virus. There were normal muscle enzymes, blood glucose, and blood ammonia and negative liver-specific autoantibodies. The boy had negative K-F ring and normal 24-hour urine copper (0.56 μmol/L). The ATP7B gene testing for the boy, his sister, and their parents detected two novel missense mutations in the boy and his sister, i.e., compound heterozygous mutations in exon 7 (c.2075T>C, p.L692P) and exon 13 (c.3044T>C, p.L1015P), which were inherited from their father and mother, respectively. Wilson's disease was confirmed by genetic diagnosis in the boy and his sister. The boy and his sister were given a low-copper diet. The boy was administered with penicillamine for decoppering and zinc supplement against copper uptake. His sister received zinc supplement alone because no clinical symptoms were observed. The boy showed normal liver function in the reexamination after 3 months of treatment.

  15. The Wilson films--Huntington's chorea.

    Science.gov (United States)

    Klein, Christine

    2011-12-01

    Wilson's Queen Square Case 9 with Huntington's chorea shows a 68-year-old man with mild to moderate generalized chorea, impaired fixation, and probable cognitive decline in keeping with a diagnosis of Huntington's disease (HD). An age of onset in the late sixties and a negative family history suggest a relatively small expanded trinucleotide repeat in the HTT gene in the patient and reduced penetrance of an even shorter repeat allele in one of his parents. A highly sensitive and specific gene test has been offered worldwide for diagnostic testing of HD for almost two decades. This test, obviously unavailable at Wilson's times, became the historic frontrunner for guidelines of symptomatic, presymptomatic, and prenatal testing for an adult-onset neurodegenerative disorder. Regarding treatment of HD, however, we are still awaiting the successful translation of research results into the development of effective cause-directed, neuropreventive and neurorestaurative therapies. Copyright © 2011 Movement Disorder Society.

  16. Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests

    DEFF Research Database (Denmark)

    Korman, J.D.; Volenberg, I.; Balko, J.

    2008-01-01

    a diagnostic sensitivity of 21% and specificity of 84% while, by nephelometry, a sensitivity of 56% and specificity of 63%. Serum copper levels exceeded 200 microg/dL in all ALF-WD patients measured (13/16), but were also elevated in non-WD ALF. An alkaline phosphatase (AP) to total bilirubin (TB) ratio ... and specificity of 100%. CONCLUSION: Conventional WD testing utilizing serum ceruloplasmin and/or serum copper levels are less sensitive and specific in identifying patients with ALF-WD than other available tests. More readily available laboratory tests including alkaline phosphatase, bilirubin and serum...

  17. Neuroimaging findings in Mowat-Wilson syndrome

    DEFF Research Database (Denmark)

    Garavelli, Livia; Ivanovski, Ivan; Caraffi, Stefano Giuseppe

    2017-01-01

    PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency o...

  18. Liver failure with coagulopathy, hyperammonemia and cyclic vomiting in a toddler revealed to have combined heterozygosity for genes involved with ornithine transcarbamylase deficiency and Wilson disease.

    Science.gov (United States)

    Mira, Valerie; Boles, Richard G

    2012-01-01

    A girl with a 2 month history of cyclic episodes of vomiting, diarrhea, and lethargy lasting 2-3 days each presented with acute hepatopathy (ALT 3,500 IU/L) with coagulopathy (PT 55 s) and hyperammonemia (207 μmol/L) at age 1½ years. Biochemical and molecular analyzes revealed ornithine transcarbamylase (OTC) deficiency. While laboratory signs of mild hepatocellular dysfunction are common in OTC deficiency, substantial liver failure with coagulopathy is generally not seen, although four others cases have been reported, three of which presented with cyclic vomiting. Further evaluation in our case revealed elevated urine (198.8 μg/g creatinine) and liver (103 μg/g dry weight) copper content, and a heterozygous mutation in the Wilson disease gene, ATP7B. Our patient, now aged 5 years, has remained in excellent health with normal growth and development on fasting avoidance, a modified vegan diet, and sodium phenylbutyrate.These five cases demonstrate that generalized liver dysfunction/failure is a potential serious complication of OTC deficiency, although not a common one, and suggests that an ALT and PT should be obtained in OTC patients during episodes of hyperammonemia. Cyclic vomiting is a known presentation of OTC deficiency; it is not known if comorbid liver failure predisposes toward this phenotype. We propose that the heterozygote state in ATP7B increases the liver copper content, thus predisposing our patient with OTC deficiency to develop liver failure during a hyperammonemic episode. Our present case is an example of the opportunity of molecular diagnostics to identify putative modifier genes in patients with atypical presentations of genetic disorders.

  19. Development of cytochrome P450 2D6-specific LKM-autoantibodies following liver transplantation for Wilson's disease -- possible association with a steroid-resistant transplant rejection episode.

    Science.gov (United States)

    Lohse, A W; Obermayer-Straub, P; Gerken, G; Brunner, S; Altes, U; Dienes, H P; Manns, M P; Meyer zum Büschenfelde, K H

    1999-07-01

    Antibodies to cytochrome P450 2D6, also known as LKM1-autoantibodies, are characteristic for a subgroup of patients with autoimmune hepatitis, but can also occasionally be found in hepatitis C. We observed the occurrence of LKM1-autoantibodies 4 months after liver transplantation for Wilson's disease, in close association with a steroid-resistant rejection episode, in the absence of evidence for autoimmune hepatitis or hepatitis C. Sera from several time points prior to and following transplantation were tested for LKM-reactivity by immunofluorescence, ELISA and Western blotting. Antigen specificity was confirmed by Western blotting analysis on different cytochrome P450 isoenzymes. The absence of viral hepatitis C and hepatitis G virus infection was confirmed by polymerase chain reaction. The serum of the organ donor was also tested. All the sera prior to transplantation and up to 4 months after transplantation were LKM-negative by all assay systems used. In the course of a steroid-resistant rejection episode at this time, the patient developed LKM antibodies at high titre (70% in inhibition ELISA) and has remained positive since (now more than 4 years). Reactivity was exclusively to the cytochrome isoenzyme 2D6. Hepatitis C infection never occurred, but hepatitis G was transiently present many years prior to transplantation. The donor serum was negative for all autoantibodies and for hepatitis C and G virus infection. We here describe a patient developing LKM1-autoantibodies without evidence of autoimmune or viral hepatitis. The close temporal association with a transplant rejection episode suggests immunological mechanisms of rejection together with hepatocellular injury as a pathogenetic mechanism.

  20. Age-dependent changes of cerebral copper metabolism in Atp7b -/- knockout mouse model of Wilson's disease by [64Cu]CuCl2-PET/CT.

    Science.gov (United States)

    Xie, Fang; Xi, Yin; Pascual, Juan M; Muzik, Otto; Peng, Fangyu

    2017-06-01

    Copper is a nutritional metal required for brain development and function. Wilson's disease (WD), or hepatolenticular degeneration, is an inherited human copper metabolism disorder caused by a mutation of the ATP7B gene. Many WD patients present with variable neurological and psychiatric symptoms, which may be related to neurodegeneration secondary to copper metabolism imbalance. The objective of this study was to explore the feasibility and use of copper-64 chloride ([ 64 C]CuCl 2 ) as a tracer for noninvasive assessment of age-dependent changes of cerebral copper metabolism in WD using an Atp7b -/- knockout mouse model of WD and positron emission tomography/computed tomography (PET/CT) imaging. Continuing from our recent study of biodistribution and radiation dosimetry of [ 64 C]CuCl 2 in Atp7b -/- knockout mice, PET quantitative analysis revealed low 64 Cu radioactivity in the brains of Atp7b -/- knockout mice at 7th weeks of age, compared with 64 Cu radioactivity in the brains of age- and gender-matched wild type C57BL/6 mice, at 24 h (h) post intravenous injection of [ 64 C]CuCl 2 as a tracer. Furthermore, age-dependent increase of 64 Cu radioactivity was detected in the brains of Atp7b -/- knockout mice from the 13th to 21th weeks of age, based on the data derived from a longitudinal [ 64 C]CuCl 2 -PET/CT study of Atp7b -/- knockout mice with orally administered [ 64 Cu]CuCl 2 as a tracer. The findings of this study support clinical use of [ 64 Cu]CuCl 2 -PET/CT imaging as a tool for noninvasive assessment of age-dependent changes of cerebral copper metabolism in WD patients presenting with variable neurological and psychiatric symptoms.

  1. On multivariate Wilson bases

    DEFF Research Database (Denmark)

    Bownik, Marcin; Jakobsen, Mads Sielemann; Lemvig, Jakob

    2017-01-01

    A Wilson system is a collection of finite linear combinations of time frequency shifts of a square integrable function. In this paper we give an account of the construction of bimodular Wilson bases in higher dimensions from Gabor frames of redundancy two.......A Wilson system is a collection of finite linear combinations of time frequency shifts of a square integrable function. In this paper we give an account of the construction of bimodular Wilson bases in higher dimensions from Gabor frames of redundancy two....

  2. Investigating the influence of standard staining procedures on the copper distribution and concentration in Wilson's disease liver samples by laser ablation-inductively coupled plasma-mass spectrometry.

    Science.gov (United States)

    Hachmöller, Oliver; Aichler, Michaela; Schwamborn, Kristina; Lutz, Lisa; Werner, Martin; Sperling, Michael; Walch, Axel; Karst, Uwe

    2017-12-01

    The influence of rhodanine and haematoxylin and eosin (HE) staining on the copper distribution and concentration in liver needle biopsy samples originating from patients with Wilson's disease (WD), a rare autosomal recessive inherited disorder of the copper metabolism, is investigated. In contemporary diagnostic of WD, rhodanine staining is used for histopathology, since rhodanine and copper are forming a red to orange-red complex, which can be recognized in the liver tissue using a microscope. In this paper, a laser ablation-inductively coupled plasma-mass spectrometry (LA-ICP-MS) method is applied for the analysis of eight different WD liver samples. Apart from a spatially resolved elemental detection as qualitative information, this LA-ICP-MS method offers also quantitative information by external calibration with matrix-matched gelatine standards. The sample set of this work included an unstained and a rhodanine stained section of each WD liver sample. While unstained sections of WD liver samples showed very distinct structures of the copper distribution with high copper concentrations, rhodanine stained sections revealed a blurred copper distribution with significant decreased concentrations in a range from 20 to more than 90%. This implies a copper removal from the liver tissue by complexation during the rhodanine staining. In contrast to this, a further HE stained sample of one WD liver sample did not show a significant decrease in the copper concentration and influence on the copper distribution in comparison to the unstained section. Therefore, HE staining can be combined with the analysis by means of LA-ICP-MS in two successive steps from one thin section of a biopsy specimen. This allows further information to be gained on the elemental distribution by LA-ICP-MS additional to results obtained by histological staining. Copyright © 2017 Elsevier GmbH. All rights reserved.

  3. A John Wilson

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education. A John Wilson. Articles written in Resonance – Journal of Science Education. Volume 11 Issue 7 July 2006 pp 70-76 Classroom. Inverting Matrices Constructed from Roots of Unity · A John Wilson · More Details Fulltext PDF ...

  4. FERMILAB: Bob Wilson 80

    Energy Technology Data Exchange (ETDEWEB)

    Anon.

    1994-06-15

    On March 4, an international symposium and tribute was held at Fermilab in honour of the Laboratory's founding director Robert Rathbun Wilson on the occasion of his 80th birthday. The symposium - 'Celebrating an Era of Courage and Creativity' - featured talks and reflections by many of Wilson's colleagues and friends including Fermilab Director John Peoples and Director Emeritus Leon Lederman.

  5. In Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease.

    Science.gov (United States)

    Mercer, Stephen W; Wang, Jianbin; Burke, Richard

    2017-03-10

    Copper is an essential biometal, and several inherited diseases are directly associated with a disruption to normal copper homeostasis. The best characterized are the copper deficiency and toxicity disorders Menkes and Wilson diseases caused by mutations in the p-type Cu-ATPase genes ATP7A and ATP7B , respectively. Missense mutations in the C-terminal portion of ATP7A have also been shown to cause distal motor neuropathy, whereas polymorphisms in ATP7B are associated with increased risk of Alzheimer's disease. We have generated a single, in vivo model for studying multiple pathogenic mutations in ATP7 proteins using Drosophila melanogaster , which has a single orthologue of ATP7A and ATP7B. Four pathogenic ATP7A mutations and two ATP7B mutations were introduced into a genomic ATP7 rescue construct containing an in-frame C-terminal GFP tag. Analysis of the wild type ATP7-GFP transgene confirmed that ATP7 is expressed at the basolateral membrane of larval midgut copper cells and that the transgene can rescue a normally early lethal ATP7 deletion allele to adulthood. Analysis of the gATP7-GFP transgenes containing pathogenic mutations showed that the function of ATP7 was affected, to varying degrees, by all six of the mutations investigated in this study. Of particular interest, the ATP7B K832R Alzheimer's disease susceptibility allele was found, for the first time, to be a loss of function allele. This in vivo system allows us to assess the severity of individual ATP7A / B mutations in an invariant genetic background and has the potential to be used to screen for therapeutic compounds able to restore function to faulty copper transport proteins. © 2017 by The American Society for Biochemistry and Molecular Biology, Inc.

  6. Mowat–Wilson syndrome – case study

    Directory of Open Access Journals (Sweden)

    Kamil Faltin

    2016-06-01

    Full Text Available Mowat–Wilson syndrome is a rare genetic condition characterised by a number of congenital anomalies, including facial dysmorphia, heart and kidney anomalies, Hirschsprung’s disease, intellectual disability and abnormalities of reproductive organs. In the paper, we present a case of a girl who was admitted to the Department of Paediatrics, Immunology and Nephrology at the age of 3 months, with a suspicion of tubulointerstitial nephritis. The patient had facial dysmorphia, congenital malformations of the nervous system and Hirschsprung’s disease. During hospitalisation, congenital urinary anomalies (bilateral vesicoureteral reflux and heart defects were diagnosed. On the basis of the clinical picture, the diagnostics was expanded to genetic tests for Mowat–Wilson syndrome, which revealed an 857_858delAG pathogenic mutation in one of the ZEB2 gene alleles (exon 7 – one of the rarer causes of Mowat–Wilson syndrome. At present, the girl is 13 months old. Her development is delayed. Currently, the girl is under multidisciplinary care and she is undergoing intensive rehabilitation. The knowledge of the syndrome’s clinical features allows a faster diagnosis to be made and multispecialty care to be provided to the child.

  7. Acute putaminal necrosis and white matter demyelination in a child with subnormal copper metabolism in Wilson disease: MR imaging and spectroscopic findings

    International Nuclear Information System (INIS)

    Juan, Chun-Jung; Chung, Hsiao-Wen; Chen, Cheng-Yu.; Chin, Shy-Chy; Hsueh, Chun-Jen; Liu, Yi-Jui; Chu, Hsin; Zimmerman, Robert A.

    2005-01-01

    Wilson disease (WD) that manifests solely with acute and severe neurological damage in the absence of hepatic disease and Kayser-Fleischer ring of the cornea is rare and difficult to diagnose at the acute setting. This report describes unusual diffusion and proton spectroscopic magnetic resonance (MR) imaging findings in a 12-year-old boy with WD who presented with hemichorea and subnormal copper metabolism. The MR imaging findings of lactate accumulation, decrease of N-acerylaspartate/creatinine (NAA/Cr) ratio and markedly increased apparent diffusion coefficient (ADC) value of the asymmetrical edematous putaminal lesions in the early stage were suggestive of acute necrosis with anaerobic metabolism of glucose leading to poor clinical outcome at follow-up. (orig.)

  8. Acute putaminal necrosis and white matter demyelination in a child with subnormal copper metabolism in Wilson disease: MR imaging and spectroscopic findings

    Energy Technology Data Exchange (ETDEWEB)

    Juan, Chun-Jung; Chung, Hsiao-Wen [National Taiwan University, Department of Electrical Engineering, Taipei (Taiwan); Tri-Service General Hospital, Department of Radiology, Taipei (Taiwan); Chen, Cheng-Yu.; Chin, Shy-Chy; Hsueh, Chun-Jen [Tri-Service General Hospital, Department of Radiology, Taipei (Taiwan); Liu, Yi-Jui [Feng Chia University, Department of Automatic Control Engineering, Taichung (Taiwan); Chu, Hsin [National Defense Medical Center, Department of Neurology, Taipei (Taiwan); Zimmerman, Robert A. [Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, Pennsylvania (United States)

    2005-06-01

    Wilson disease (WD) that manifests solely with acute and severe neurological damage in the absence of hepatic disease and Kayser-Fleischer ring of the cornea is rare and difficult to diagnose at the acute setting. This report describes unusual diffusion and proton spectroscopic magnetic resonance (MR) imaging findings in a 12-year-old boy with WD who presented with hemichorea and subnormal copper metabolism. The MR imaging findings of lactate accumulation, decrease of N-acerylaspartate/creatinine (NAA/Cr) ratio and markedly increased apparent diffusion coefficient (ADC) value of the asymmetrical edematous putaminal lesions in the early stage were suggestive of acute necrosis with anaerobic metabolism of glucose leading to poor clinical outcome at follow-up. (orig.)

  9. FERMILAB: Bob Wilson 80

    International Nuclear Information System (INIS)

    Anon.

    1994-01-01

    On March 4, an international symposium and tribute was held at Fermilab in honour of the Laboratory's founding director Robert Rathbun Wilson on the occasion of his 80th birthday. The symposium - 'Celebrating an Era of Courage and Creativity' - featured talks and reflections by many of Wilson's colleagues and friends including Fermilab Director John Peoples and Director Emeritus Leon Lederman

  10. Differential alteration of the nigrostriatal dopaminergic system in Wilson's disease investigated with [123I]ss-CIT and high-resolution SPET

    International Nuclear Information System (INIS)

    Barthel, H.; Sorger, D.; Kluge, R.; Kuehn, H.-J.; Wagner, A.; Hermann, W.

    2001-01-01

    Wilson's disease (WD) is a copper deposition disorder which can result in a number of extrapyramidal motoric symptoms such as parkinsonism. Therefore, this study was carried out to investigate, for the first time, nigrostriatal dopaminergic function in WD in relation to different courses and severity of the disease. Using high-resolution single-photon emission tomography (SPET) after administration of 2ss-carbomethoxy-3ss-(4[ 123 I]iodophenyl)tropane ([ 123 I]ss-CIT), striatal dopamine transporters (DAT) were imaged in 43 WD patients and a control group of ten subjects. From the SPET images, specific [ 123 I]ss-CIT binding ratios were obtained for the caudate heads, putamina and entire corpus striatum. In addition, to evaluate a putative dissociation between the caudate and putaminal [ 123 I]ss-CIT binding ratios, the ratio between these binding ratios was calculated (CA/PU ratio). The SPET data were compared with clinical data on the course of the disease (CD), the severity of neurological symptoms and the degree of hepatic alteration. Whereas the specific regional [ 123 I]ss-CIT binding ratios in patients with asymptomatic/hepatic CD did not differ from those in the control group (e.g. striatal ratios: 13.4±3.0 vs 11.7±2.8), in patients with neurological CD the ratios were significantly reduced for all striatal substructures (P=0.003 after one-factor ANOVA). For the different subgroups a tendency was detected towards a stepwise decrease in the specific [ 123 I]ss-CIT binding ratios from pseudo-sclerosis CD (9.4±2.3), through pseudo-parkinsonian CD (9.1±2.1) to arrhythmic-hyperkinetic CD (8.5±1.6). However, these group differences reached significance only for the comparison with asymptomatic/hepatic CD (P=0.02). The CA/PU ratio was significantly higher in WD than in the control group (1.30±0.19 vs 1.11±0.08; P=0.003). Severity of neurological symptoms was significantly correlated with all specific regional [ 123 I]ss-CIT binding ratios (r=-0.49 to -0

  11. Diffusion of Wilson loops

    International Nuclear Information System (INIS)

    Brzoska, A.M.; Lenz, F.; Thies, M.; Negele, J.W.

    2005-01-01

    A phenomenological analysis of the distribution of Wilson loops in SU(2) Yang-Mills theory is presented in which Wilson loop distributions are described as the result of a diffusion process on the group manifold. It is shown that, in the absence of forces, diffusion implies Casimir scaling and, conversely, exact Casimir scaling implies free diffusion. Screening processes occur if diffusion takes place in a potential. The crucial distinction between screening of fundamental and adjoint loops is formulated as a symmetry property related to the center symmetry of the underlying gauge theory. The results are expressed in terms of an effective Wilson loop action and compared with various limits of SU(2) Yang-Mills theory

  12. Ebot, Wilson Atem

    African Journals Online (AJOL)

    Ebot, Wilson Atem. Vol 8-9, No 1 (1995) - Articles Language and socio-cultural change in Ejagham Abstract PDF. ISSN: 1016-0728. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use · Contact AJOL ...

  13. Are irreversible morphological [corrected] signs of portal hypertension in neurological form of Wilson's disease associated with treatment delay?

    DEFF Research Database (Denmark)

    Kozic, D B; Semnic, R; Petrovic, I

    2012-01-01

    of the patients from group A and in 4 (44%) patients from group B. In addition, macronodular liver cirrhosis and peritoneal effusion were evident in two and one patient from group B, respectively, and in none of the patients from group A. Our results suggest that severe portal hypertension and liver damage...

  14. Characterization of Timed Changes in Hepatic Copper Concentrations, Methionine Metabolism, Gene Expression, and Global DNA Methylation in the Jackson Toxic Milk Mouse Model of Wilson Disease

    Directory of Open Access Journals (Sweden)

    Anh Le

    2014-05-01

    Full Text Available Background: Wilson disease (WD is characterized by hepatic copper accumulation with progressive liver damage to cirrhosis. This study aimed to characterize the toxic milk mouse from The Jackson Laboratory (Bar Harbor, ME, USA (tx-j mouse model of WD according to changes over time in hepatic copper concentrations, methionine metabolism, global DNA methylation, and gene expression from gestational day 17 (fetal to adulthood (28 weeks. Methods: Included liver histology and relevant biochemical analyses including hepatic copper quantification, S-adenosylmethionine (SAM and S-adenosylhomocysteine (SAH liver levels, qPCR for transcript levels of genes relevant to methionine metabolism and liver damage, and DNA dot blot for global DNA methylation. Results: Hepatic copper was lower in tx-j fetuses but higher in weanling (three weeks and adult tx-j mice compared to controls. S-adenosylhomocysteinase transcript levels were significantly lower at all time points, except at three weeks, correlating negatively with copper levels and with consequent changes in the SAM:SAH methylation ratio and global DNA methylation. Conclusion: Compared to controls, methionine metabolism including S-adenosylhomocysteinase gene expression is persistently different in the tx-j mice with consequent alterations in global DNA methylation in more advanced stages of liver disease. The inhibitory effect of copper accumulation on S-adenosylhomocysteinase expression is associated with progressively abnormal methionine metabolism and decreased methylation capacity and DNA global methylation.

  15. Genetics Home Reference: Hirschsprung disease

    Science.gov (United States)

    ... occur in combination with other conditions, such as Waardenburg syndrome , type IV; Mowat-Wilson syndrome ; or congenital central ... Disease MalaCards: hirschsprung disease 1 Orphanet: Hirschsprung disease Patient Support and Advocacy Resources (4 links) Bowel Group ...

  16. Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.

    Directory of Open Access Journals (Sweden)

    Julnar Usta

    Full Text Available Genotype phenotype correlations in Wilson disease (WD are best established in homozygous patients or in compound heterozygous patients carrying the same set of mutations. We determined the clinical phenotype of patients with WD carrying the c.2298_2299insC in Exon 8 (c.2299insC or the p. Ala1003Thr missense substitution in Exon 13 mutations in the homozygous or compound heterozygous state. We investigated 76 members of a single large Lebanese family. Their genotypes were determined, and clinical assessments were carried out for affected subjects. We also performed a literature search retrieving the phenotypes of patients carrying the same mutations of our patients in the homozygous or compound heterozygous state. There were 7 consanguineous marriages in this family and the prevalence of WD was 8.9% and of carriers of ATP7B mutation 44.7%. WD was confirmed in 9 out of 76 subjects. All 9 had the c.2299insC mutation, 5 homozygous and 4-compound heterozygous with p. Ala1003Thr. Six of our patients had hepatic, 2 had neurologic and 1 had asymptomatic phenotype. Based on our data and a literature review, clear phenotypes were reported for 38 patients worldwide carrying the c.2299insC mutation. About 53% of those have hepatic and 29% have neurologic phenotype. Furthermore, there were 10 compound heterozygous patients carrying the p. Ala1003Thr mutation. Among those, 80% having c.2299insC as the second mutation had hepatic phenotype, and all others had neurologic phenotype. We hereby report an association between the c.2299insC mutation and hepatic phenotype and between the p. Ala1003Thr mutation and neurologic phenotype.

  17. Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.

    Science.gov (United States)

    Ariss, Michelle; Natan, Kristina; Friedman, Neil; Traboulsi, Elias I

    2012-09-01

    Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies. Ophthalmological abnormalities have been rarely described in patients with this condition which is caused by mutations in the ZEB2 gene. We report a 9-year-old female with this syndrome who has severe ocular abnormalities including bilateral microphthalmia, cataract, and retinal aplasia.

  18. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders

    Directory of Open Access Journals (Sweden)

    Hille Fieten

    2016-01-01

    Full Text Available The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the genes coding for the copper transporters ATP7A and ATP7B. Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. Mutations in ATP7B lead to Wilson disease, which is characterized by a predominantly hepatic copper accumulation. The low incidence and the phenotypic variability of human copper toxicosis hamper identification of causal genes or modifier genes involved in the disease pathogenesis. The Labrador retriever was recently characterized as a new canine model for copper toxicosis. Purebred dogs have reduced genetic variability, which facilitates identification of genes involved in complex heritable traits that might influence phenotype in both humans and dogs. We performed a genome-wide association study in 235 Labrador retrievers and identified two chromosome regions containing ATP7A and ATP7B that were associated with variation in hepatic copper levels. DNA sequence analysis identified missense mutations in each gene. The amino acid substitution ATP7B:p.Arg1453Gln was associated with copper accumulation, whereas the amino acid substitution ATP7A:p.Thr327Ile partly protected against copper accumulation. Confocal microscopy indicated that aberrant copper metabolism upon expression of the ATP7B variant occurred because of mis-localization of the protein in the endoplasmic reticulum. Dermal fibroblasts derived from ATP7A:p.Thr327Ile dogs showed copper accumulation and delayed excretion. We identified the Labrador retriever as the first natural, non-rodent model for ATP7B-associated copper toxicosis. Attenuation of copper accumulation by the ATP7A mutation sheds an interesting light on the interplay of copper transporters in body copper homeostasis and warrants a thorough investigation of ATP7A as a modifier gene in copper-metabolism disorders. The identification of two new functional

  19. Wilson Disease: Frequently Asked Questions

    Science.gov (United States)

    ... Family Foundation and Consumers Union, the publisher of Consumer Reports magazine. A Consumer Guide to Handling Disputes With ... in the free consumer advice section of the Consumer Reports magazine website, http://www.consumerreports.org/. For further ...

  20. [Jacqueline Wilson. Tracy Beakeri sari] / Krista Kivisalu

    Index Scriptorium Estoniae

    Kivisalu, Krista, 1968-

    2016-01-01

    Tutvustus: Wilson, Jacqueline. Tracy Beakeri lugu. [Tallinn] : Pegasus, 2015 ; Wilson, Jacqueline. Pühadeüllatus. [Tallinn] : Pegasus, c2015 ; Wilson, Jacqueline. Julgusmäng. [Tallinn] : Pegasus, c2015

  1. String breaking with Wilson loops?

    CERN Document Server

    Kratochvila, S; Kratochvila, Slavo; Forcrand, Philippe de

    2003-01-01

    A convincing, uncontroversial observation of string breaking, when the static potential is extracted from Wilson loops only, is still missing. This failure can be understood if the overlap of the Wilson loop with the broken string is exponentially small. In that case, the broken string ground state will only be seen if the Wilson loop is long enough. Our preliminary results show string breaking in the context of the 3d SU(2) adjoint static potential, using the L\\"uscher-Weisz exponential variance reduction approach. As a by-product, we measure the fundamental SU(2) static potential with improved accuracy and see clear deviations from Casimir scaling.

  2. Renal disease in patients with celiac disease.

    Science.gov (United States)

    Boonpheng, Boonphiphop; Cheungpasitporn, Wisit; Wijarnpreecha, Karn

    2018-04-01

    Celiac disease, an inflammatory disease of small bowel caused by sensitivity to dietary gluten and related protein, affects approximately 0.5-1% of the population in the Western world. Extra-intestinal symptoms and associated diseases are increasingly recognized including diabetes mellitus type 1, thyroid disease, dermatitis herpetiformis and ataxia. There have also been a number of reports of various types of renal involvement in patients with celiac disease including diabetes nephropathy, IgA nephropathy, membranous nephropathy, membranoproliferative glomerulonephritis, nephrotic syndrome related to malabsorption, oxalate nephropathy, and associations of celiac disease with chronic kidney disease and end-stage kidney disease. This review aims to present the current literature on possible pathologic mechanisms underlying renal disease in patients with celiac disease.

  3. Wilson loops in Kerr gravitation

    International Nuclear Information System (INIS)

    Bollini, C.G.; Giambiagi, J.J.; Tiomno, J.

    1981-01-01

    The ordered integrals for several paths in Kerr gravitation is computed in a compact form. When the path is closed its relation with the angular parallel displacement is discussed and the corresponding Wilson loop is calculated. The validity of Mandelstam relations for gauge fields is also explicitly verified. (Author) [pt

  4. Robert Wilson's Invitation to Insanity.

    Science.gov (United States)

    Stephens, Judith L.

    The plays of stage director Robert Wilson are devices presenting alternative modes of perception to theatre audiences accustomed to verbal/aural structures of experience. Uniting his interests in the arts and therapy, his plays create a theatrical event promoting empathy with the perceptions of the mentally or physically handicapped and…

  5. Sextet Model with Wilson Fermions

    DEFF Research Database (Denmark)

    Hansen, Martin; Pica, Claudio

    2017-01-01

    We present new results from our ongoing study of the SU(3) sextet model with two flavors in the two-index symmetric representation of the gauge group. In the simulations use unimproved Wilson fermions to investigate the infrared properties of the model. We have previously presented results...

  6. Wilson fermions at finite temperature

    International Nuclear Information System (INIS)

    Creutz, M.

    1996-01-01

    The author conjectures on the phase structure expected for lattice gauge theory with two flavors of Wilson fermions, concentrating on large values of the hopping parameter. Numerous phases are expected, including the conventional confinement and deconfinement phases, as well as an Aoki phase with spontaneous breaking of flavor and parity and a large hopping phase corresponding to negative quark masses

  7. Perturbation calculations with Wilson loop

    International Nuclear Information System (INIS)

    Peixoto Junior, L.B.

    1984-01-01

    We present perturbative calculations with the Wilson loop (WL). The dimensional regularization method is used with a special attention concerning to the problem of divergences in the WL expansion in second and fourth orders, in three and four dimensions. We show that the residue in the pole, in 4d, of the fourth order graphs contribution sum is important for the charge renormalization. We compute up to second order the exact expression of the WL, in three-dimensional gauge theories with topological mass as well as its assimptotic behaviour for small and large distances. the author [pt

  8. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders

    NARCIS (Netherlands)

    Fieten, Hille; Gill, Yadvinder; Martin, Alan J.; Concilli, Mafalda; Dirksen, Karen; van Steenbeek, Frank G.; Spee, Bart; van den Ingh, Ted S. G. A. M.; Martens, Ellen C. C. P.; Festa, Paola; Chesi, Giancarlo; van de Sluis, Bart; Houwen, Roderick H. J. H.; Watson, Adrian L.; Aulchenko, Yurii S.; Hodgkinson, Victoria L.; Zhu, Sha; Petris, Michael J.; Polishchuk, Roman S.; Leegwater, Peter A. J.; Rothuizen, Jan

    2016-01-01

    The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the genes coding for the copper transporters ATP7A and ATP7B. Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. Mutations in ATP7B lead to

  9. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers : a new canine model for copper-metabolism disorders

    NARCIS (Netherlands)

    Fieten, Hille; Gill, Yadvinder; Martin, Alan J.; Concilli, Mafalda; Dirksen, Karen; van Steenbeek, Frank G.; Spee, Bart; van den Ingh, Ted S. G. A. M.; Martens, Ellen C. C. P.; Festa, Paola; Chesi, Giancarlo; Sluis, van de Bart; Houwen, Roderick H. J. H.; Watson, Adrian L.; Aulchenko, Yurii S.; Hodgkinson, Victoria L.; Zhu, Sha; Petris, Michael J.; Polishchuk, Roman S.; Leegwater, Peter A. J.; Rothuizen, Jan

    2016-01-01

    The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the genes coding for the copper transporters ATP7A and ATP7B. Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. Mutations in ATP7B lead to

  10. Wilson lines in quantum field theory

    CERN Document Server

    Cherednikov, Igor O; Veken, Frederik F van der

    2014-01-01

    The objective of this book is to get the reader acquainted with theoretical and mathematical foundations of the concept of Wilson loops in the context of modern quantum field theory. It teaches how to perform independently with some elementary calculations on Wilson lines, and shows the recent development of the subject in different important areas of research.

  11. Compact lattice QED with Wilson fermions

    International Nuclear Information System (INIS)

    Hoferichter, A.

    1994-08-01

    We study the phase structure and the chiral limit of 4d compact lattice QED with Wilson fermions (both dynamical and quenched). We use the standard Wilson gauge action and also a modified one suppressing lattice artifacts. Different techniques and observables to locate the chiral limit are discussed. (orig.)

  12. The Wilson loop and some applications

    International Nuclear Information System (INIS)

    Bezerra, V.B.

    1983-04-01

    A simple relation between the classical Wilson loop and the angular deviation in the parallel displacement is found. An example of potentials which give field copies and which suplly the same classical Wilson loop for a particular trajectory is exhibited. The asymptotic behaviour of the Wilson loop for the BPST instanton and the meron, is discussed. By using the dimensional regularization technique to calculate the second order term of the quantum Wilson loop, the influence of geometrical factors for the residue in the pole due to contact points, cuspides and intersections, in function of the space-time ν, is investigated. Charge renormalization in Quantum electrodynamics is finally calculated by using the quantum Wilson loop. (L.C.) [pt

  13. The Wilson loop and some applications

    International Nuclear Information System (INIS)

    Bezerra, V.B.

    1983-01-01

    A simple relation between the classical Wilson loop and the angular deviation in the parallel shift is found. An example of potential which given field copies and which give the same classical Wilson loop for a given trajectory is exchibited. Afterwards, the asymptotic behaviour of the Wilson loop for the BPST instanton and meron is discussed. Using the dimensional regularization technique to calculate the second order term of Quantum Wilson loop, the influence of geometrical factors for the residue in the polo due to contact points, cusp and intersections, in function of the upsilon dimension of the space-time is investigated. Finally, the charge renormalization in Quantum Electrodynamics using Quantum Wilson loop is calculated. (L.C.) [pt

  14. Wilson loops in minimal surfaces

    International Nuclear Information System (INIS)

    Drukker, Nadav; Gross, David J.; Ooguri, Hirosi

    1999-01-01

    The AdS/CFT correspondence suggests that the Wilson loop of the large N gauge theory with N = 4 supersymmetry in 4 dimensions is described by a minimal surface in AdS 5 x S 5 . The authors examine various aspects of this proposal, comparing gauge theory expectations with computations of minimal surfaces. There is a distinguished class of loops, which the authors call BPS loops, whose expectation values are free from ultra-violet divergence. They formulate the loop equation for such loops. To the extent that they have checked, the minimal surface in AdS 5 x S 5 gives a solution of the equation. The authors also discuss the zig-zag symmetry of the loop operator. In the N = 4 gauge theory, they expect the zig-zag symmetry to hold when the loop does not couple the scalar fields in the supermultiplet. They will show how this is realized for the minimal surface

  15. Wilson loops and minimal surfaces

    International Nuclear Information System (INIS)

    Drukker, Nadav; Gross, David J.; Ooguri, Hirosi

    1999-01-01

    The AdS-CFT correspondence suggests that the Wilson loop of the large N gauge theory with N=4 supersymmetry in four dimensions is described by a minimal surface in AdS 5 xS 5 . We examine various aspects of this proposal, comparing gauge theory expectations with computations of minimal surfaces. There is a distinguished class of loops, which we call BPS loops, whose expectation values are free from ultraviolet divergence. We formulate the loop equation for such loops. To the extent that we have checked, the minimal surface in AdS 5 xS 5 gives a solution of the equation. We also discuss the zigzag symmetry of the loop operator. In the N=4 gauge theory, we expect the zigzag symmetry to hold when the loop does not couple the scalar fields in the supermultiplet. We will show how this is realized for the minimal surface. (c) 1999 The American Physical Society

  16. Symptom Status Predicts Patient Outcomes in Persons with HIV and Comorbid Liver Disease

    Directory of Open Access Journals (Sweden)

    Wendy A. Henderson

    2012-01-01

    Full Text Available Persons living with human immunodeficiency virus (HIV are living longer; therefore, they are more likely to suffer significant morbidity due to potentially treatable liver diseases. Clinical evidence suggests that the growing number of individuals living with HIV and liver disease may have a poorer health-related quality of life (HRQOL than persons living with HIV who do not have comorbid liver disease. Thus, this study examined the multiple components of HRQOL by testing Wilson and Cleary’s model in a sample of 532 individuals (305 persons with HIV and 227 persons living with HIV and liver disease using structural equation modeling. The model components include biological/physiological factors (HIV viral load, CD4 counts, symptom status (Beck Depression Inventory II and the Medical Outcomes Study HIV Health Survey (MOS-HIV mental function, functional status (missed appointments and MOS-HIV physical function, general health perceptions (perceived burden visual analogue scale and MOS-HIV health transition, and overall quality of life (QOL (Satisfaction with Life Scale and MOS-HIV overall QOL. The Wilson and Cleary model was found to be useful in linking clinical indicators to patient-related outcomes. The findings provide the foundation for development and future testing of targeted biobehavioral nursing interventions to improve HRQOL in persons living with HIV and liver disease.

  17. Empowering Patients with Chronic Diseases

    DEFF Research Database (Denmark)

    Bestek, Mate; Meglič, Matic; Kurent, Blaž

    2012-01-01

    Background: Chronic diseases require most of the resources in todays healthcare systems. Healthcare systems, as such, are thus not sustainable in the long term. Solutions to this problem are needed and a lot of research is focused on finding new approaches to more sustainable healthcare systems...... himself to become empowered. The patient needs to see data about his health in order to start thinking about new decisions in life that can lead to change in his behaviour. Objective: We have approached the problem of empowering patients with chronic diseases from a biological, psychological, sociological....... We want to develop extensible technology to support even more new interventions for different chronic diseases. We want the technology to enable semantic interoperability with other systems. Methods: We have collaborated with doctors in order to model the care plans for different chronic diseases...

  18. Kenneth G Wilson (1936–2013)

    Indian Academy of Sciences (India)

    The best reference for anyone interested in the development of Wilson's thinking in this period ... work on the critical point was a seminar in the Chemistry Department by his ... The basic theoretical tool used was the renormalization group.

  19. Zero Point Energy of Renormalized Wilson Loops

    OpenAIRE

    Hidaka, Yoshimasa; Pisarski, Robert D.

    2009-01-01

    The quark antiquark potential, and its associated zero point energy, can be extracted from lattice measurements of the Wilson loop. We discuss a unique prescription to renormalize the Wilson loop, for which the perturbative contribution to the zero point energy vanishes identically. A zero point energy can arise nonperturbatively, which we illustrate by considering effective string models. The nonperturbative contribution to the zero point energy vanishes in the Nambu model, but is nonzero wh...

  20. Eigenvalue distributions of Wilson loops

    International Nuclear Information System (INIS)

    Lohmayer, Robert

    2010-01-01

    In the first part of this thesis, we focus on the distribution of the eigenvalues of the unitary Wilson loop matrix in the two-dimensional case at arbitrary finite N. To characterize the distribution of the eigenvalues, we introduce three density functions (the ''symmetric'', the ''antisymmetric'', and the ''true'' eigenvalue density) which differ at finite N but possess the same infinite-N limit, exhibiting the Durhuus-Olesen phase transition. Using expansions of determinants and inverse determinants in characters of totally symmetric or totally antisymmetric representations of SU(N), the densities at finite N can be expressed in terms of simple sums involving only dimensions and quadratic Casimir invariants of certain irreducible representations of SU(N), allowing for a numerical computation of the densities at arbitrary N to any desired accuracy. We find that the true eigenvalue density, adding N oscillations to the monotonic symmetric density, is in some sense intermediate between the symmetric and the antisymmetric density, which in turn is given by a sum of N delta peaks located at the zeros of the average of the characteristic polynomial. Furthermore, we show that the dependence on N can be made explicit by deriving integral representations for the resolvents associated to the three eigenvalue densities. Using saddle-point approximations, we confirm that all three densities reduce to the Durhuus-Olesen result in the infinite-N limit. In the second part, we study an exponential form of the multiplicative random complex matrix model introduced by Gudowska-Nowak et al. Varying a parameter which can be identified with the area of the Wilson loop in the unitary case, the region of non-vanishing eigenvalue density of the N-dimensional complex product matrix undergoes a topological change at a transition point in the infinite-N limit. We study the transition by a detailed analysis of the average of the modulus square of the characteristic polynomial. Furthermore

  1. Eigenvalue distributions of Wilson loops

    Energy Technology Data Exchange (ETDEWEB)

    Lohmayer, Robert

    2010-07-01

    In the first part of this thesis, we focus on the distribution of the eigenvalues of the unitary Wilson loop matrix in the two-dimensional case at arbitrary finite N. To characterize the distribution of the eigenvalues, we introduce three density functions (the ''symmetric'', the ''antisymmetric'', and the ''true'' eigenvalue density) which differ at finite N but possess the same infinite-N limit, exhibiting the Durhuus-Olesen phase transition. Using expansions of determinants and inverse determinants in characters of totally symmetric or totally antisymmetric representations of SU(N), the densities at finite N can be expressed in terms of simple sums involving only dimensions and quadratic Casimir invariants of certain irreducible representations of SU(N), allowing for a numerical computation of the densities at arbitrary N to any desired accuracy. We find that the true eigenvalue density, adding N oscillations to the monotonic symmetric density, is in some sense intermediate between the symmetric and the antisymmetric density, which in turn is given by a sum of N delta peaks located at the zeros of the average of the characteristic polynomial. Furthermore, we show that the dependence on N can be made explicit by deriving integral representations for the resolvents associated to the three eigenvalue densities. Using saddle-point approximations, we confirm that all three densities reduce to the Durhuus-Olesen result in the infinite-N limit. In the second part, we study an exponential form of the multiplicative random complex matrix model introduced by Gudowska-Nowak et al. Varying a parameter which can be identified with the area of the Wilson loop in the unitary case, the region of non-vanishing eigenvalue density of the N-dimensional complex product matrix undergoes a topological change at a transition point in the infinite-N limit. We study the transition by a detailed analysis of the average of the

  2. Conformal anomaly of super Wilson loop

    Energy Technology Data Exchange (ETDEWEB)

    Belitsky, A.V., E-mail: andrei.belitsky@asu.edu [Department of Physics, Arizona State University, Tempe, AZ 85287-1504 (United States)

    2012-09-11

    Classically supersymmetric Wilson loop on a null polygonal contour possesses all symmetries required to match it onto non-MHV amplitudes in maximally supersymmetric Yang-Mills theory. However, to define it quantum mechanically, one is forced to regularize it since perturbative loop diagrams are not well defined due to presence of ultraviolet divergences stemming from integration in the vicinity of the cusps. A regularization that is adopted by practitioners by allowing one to use spinor helicity formalism, on the one hand, and systematically go to higher orders of perturbation theory is based on a version of dimensional regularization, known as Four-Dimensional Helicity scheme. Recently it was demonstrated that its use for the super Wilson loop at one loop breaks both conformal symmetry and Poincare supersymmetry. Presently, we exhibit the origin for these effects and demonstrate how one can undo this breaking. The phenomenon is alike the one emerging in renormalization group mixing of conformal operators in conformal theories when one uses dimensional regularization. The rotation matrix to the diagonal basis is found by means of computing the anomaly in the Ward identity for the conformal boost. Presently, we apply this ideology to the super Wilson loop. We compute the one-loop conformal anomaly for the super Wilson loop and find that the anomaly depends on its Grassmann coordinates. By subtracting this anomalous contribution from the super Wilson loop we restore its interpretation as a dual description for reduced non-MHV amplitudes which are expressed in terms of superconformal invariants.

  3. Cerebrovascular disease in pediatric patients

    Directory of Open Access Journals (Sweden)

    Rotta Newra Tellechea

    2002-01-01

    Full Text Available Although rare in childhood, stroke may have a serious impact when it happens in this stage of life. Also, it may be the first sign of a systemic disease. We report 12 cases of patients with stroke treated in the Neuropediatrics Unit of Hospital de Clínicas de Porto Alegre (HCPA from March 1997 to March 2000. All patients, from term infants to 12-year-old children hospitalized in the Pediatrics Unit of HCPA, had clinical suspicion of stroke, which was later confirmed by radiological studies. Patient follow up ranged from 1 to 6 years (mean = 3.4 years. Presenting symptoms were hemiparesis in 9 patients, seizures in 7, deviation of labial commissure in 3, and loss of consciousness in 1. The increase in the number of cases of childhood stroke identified and later confirmed by noninvasive methods had helped in the determination of different ethiologies of stroke: the most frequent being hematologic, cardiac and genetic diseases. However, our study included 6 newborns with stroke whose ethiology was not identified. Seven children with seizures received phenobarbital. Six term infants had neonatal seizures secondary to stroke and restricted to the first 72 hours of life.

  4. Observing string breaking with Wilson loops

    CERN Document Server

    Kratochvila, S; Kratochvila, Slavo; Forcrand, Philippe de

    2003-01-01

    An uncontroversial observation of adjoint string breaking is proposed, while measuring the static potential from Wilson loops only. The overlap of the Wilson loop with the broken-string state is small, but non-vanishing, so that the broken-string groundstate can be seen if the Wilson loop is long enough. We demonstrate this in the context of the (2+1)d SU(2) adjoint static potential, using an improved version of the Luscher-Weisz exponential variance reduction. To complete the picture we perform the more usual multichannel analysis with two basis states, the unbroken-string state and the broken-string state (two so-called gluelumps). As by-products, we obtain the temperature-dependent static potential measured from Polyakov loop correlations, and the fundamental SU(2) static potential with improved accuracy. Comparing the latter with the adjoint potential, we see clear deviations from Casimir scaling.

  5. The Universal Askey-Wilson Algebra

    Directory of Open Access Journals (Sweden)

    Paul Terwilliger

    2011-07-01

    Full Text Available In 1992 A. Zhedanov introduced the Askey-Wilson algebra AW=AW(3 and used it to describe the Askey-Wilson polynomials. In this paper we introduce a central extension Δ of AW, obtained from AW by reinterpreting certain parameters as central elements in the algebra. We call Δ the universal Askey-Wilson algebra. We give a faithful action of the modular group PSL_2(Z on Δ as a group of automorphisms. We give a linear basis for Δ. We describe the center of Δ and the 2-sided ideal Δ[Δ,Δ]Δ. We discuss how Δ is related to the q-Onsager algebra.

  6. Zero point energy of renormalized Wilson loops

    International Nuclear Information System (INIS)

    Hidaka, Yoshimasa; Pisarski, Robert D.

    2009-01-01

    The quark-antiquark potential, and its associated zero point energy, can be extracted from lattice measurements of the Wilson loop. We discuss a unique prescription to renormalize the Wilson loop, for which the perturbative contribution to the zero point energy vanishes identically. A zero point energy can arise nonperturbatively, which we illustrate by considering effective string models. The nonperturbative contribution to the zero point energy vanishes in the Nambu model, but is nonzero when terms for extrinsic curvature are included. At one loop order, the nonperturbative contribution to the zero point energy is negative, regardless of the sign of the extrinsic curvature term.

  7. Gallstones in Patients with Chronic Liver Diseases

    Directory of Open Access Journals (Sweden)

    Xu Li

    2017-01-01

    Full Text Available With prevalence of 10–20% in adults in developed countries, gallstone disease (GSD is one of the most prevalent and costly gastrointestinal tract disorders in the world. In addition to gallstone disease, chronic liver disease (CLD is also an important global public health problem. The reported frequency of gallstone in chronic liver disease tends to be higher. The prevalence of gallstone disease might be related to age, gender, etiology, and severity of liver disease in patients with chronic liver disease. In this review, the aim was to identify the epidemiology, mechanisms, and treatment strategies of gallstone disease in chronic liver disease patients.

  8. Wilson lines in quantum field theory

    Energy Technology Data Exchange (ETDEWEB)

    Cherednikov, Igor Olegovich [Antwerpen Univ., Antwerp (Belgium). Fysica Dept.; Joint Institute of Nuclear Research, Moscow (Russian Federation). Bogoliubov Lab. of Theoretical Physics; Mertens, Tom; Veken, Frederik F. van der [Antwerpen Univ., Antwerp (Belgium). Fysica Dept.

    2014-07-01

    Wilson lines (also known as gauge links or eikonal lines) can be introduced in any gauge field theory. Although the concept of the Wilson exponentials finds an enormously wide range of applications in a variety of branches of modern quantum field theory, from condensed matter and lattice simulations to quantum chromodynamics, high-energy effective theories and gravity, there are surprisingly few books or textbooks on the market which contain comprehensive pedagogical introduction and consecutive exposition of the subject. The objective of this book is to get the potential reader acquainted with theoretical and mathematical foundations of the concept of the Wilson loops in the context of modern quantum field theory, to teach him/her to perform independently some elementary calculations with Wilson lines, and to familiarize him/her with the recent development of the subject in different important areas of research. The target audience of the book consists of graduate and postgraduate students working in various areas of quantum field theory, as well as researchers from other fields.

  9. Wilson lines in quantum field theory

    International Nuclear Information System (INIS)

    Cherednikov, Igor Olegovich; Joint Institute of Nuclear Research, Moscow; Mertens, Tom; Veken, Frederik F. van der

    2014-01-01

    Wilson lines (also known as gauge links or eikonal lines) can be introduced in any gauge field theory. Although the concept of the Wilson exponentials finds an enormously wide range of applications in a variety of branches of modern quantum field theory, from condensed matter and lattice simulations to quantum chromodynamics, high-energy effective theories and gravity, there are surprisingly few books or textbooks on the market which contain comprehensive pedagogical introduction and consecutive exposition of the subject. The objective of this book is to get the potential reader acquainted with theoretical and mathematical foundations of the concept of the Wilson loops in the context of modern quantum field theory, to teach him/her to perform independently some elementary calculations with Wilson lines, and to familiarize him/her with the recent development of the subject in different important areas of research. The target audience of the book consists of graduate and postgraduate students working in various areas of quantum field theory, as well as researchers from other fields.

  10. Wilson Fermions with Four Fermion Interactions

    DEFF Research Database (Denmark)

    Rantaharju, Jarno; Drach, Vincent; Hietanen, Ari

    2015-01-01

    We present a lattice study of a four fermion theory, known as Nambu Jona-Lasinio (NJL) theory, via Wilson fermions. Four fermion interactions naturally occur in several extensions of the Standard Model as a low energy parameterisation of a more fundamental theory. In models of dynamical electroweak...

  11. SU(3) sextet model with Wilson fermions

    DEFF Research Database (Denmark)

    Hansen, Martin; Drach, Vincent; Pica, Claudio

    2017-01-01

    to be inside or very close to the lower boundary of the conformal window. We use the Wilson discretization for the fermions and map the phase structure of the lattice model. We study several spectral and gradient flow observables both in the bulk and the weak coupling phases. While in the bulk phase we find...

  12. Kenneth G Wilson (1936–2013)

    Indian Academy of Sciences (India)

    perceptions of strongly interacting systems – either in particle physics or in condensed matter. The Nobel citation mentions the cryptic term 'renormalization group'. An article elsewhere in this issue ... young research student who had graduated from Harvard University in 1956 – Kenneth Wilson. Gell-Mann suggested that ...

  13. Spectrum of the Wilson Dirac operator at finite lattice spacings

    DEFF Research Database (Denmark)

    Akemann, G.; Damgaard, Poul Henrik; Splittorff, Kim

    2011-01-01

    We consider the effect of discretization errors on the microscopic spectrum of the Wilson Dirac operator using both chiral Perturbation Theory and chiral Random Matrix Theory. A graded chiral Lagrangian is used to evaluate the microscopic spectral density of the Hermitian Wilson Dirac operator...... as well as the distribution of the chirality over the real eigenvalues of the Wilson Dirac operator. It is shown that a chiral Random Matrix Theory for the Wilson Dirac operator reproduces the leading zero-momentum terms of Wilson chiral Perturbation Theory. All results are obtained for fixed index...... of the Wilson Dirac operator. The low-energy constants of Wilson chiral Perturbation theory are shown to be constrained by the Hermiticity properties of the Wilson Dirac operator....

  14. Nucleon electromagnetic form factors with Wilson fermions

    International Nuclear Information System (INIS)

    Goeckeler, M.; Haegler, P.; Horsley, R.

    2007-10-01

    The nucleon electromagnetic form factors continue to be of major interest for experimentalists and phenomenologists alike. They provide important insights into the structure of nuclear matter. For a range of interesting momenta they can be calculated on the lattice. The limiting factor continues to be the value of the pion mass. We present the latest results of the QCDSF collaboration using gauge configurations with two dynamical, non-perturbatively improved Wilson fermions at pion masses as low as 350 MeV. (orig.)

  15. Nucleon electromagnetic form factors with Wilson fermions

    Energy Technology Data Exchange (ETDEWEB)

    Goeckeler, M. [Regensburg Univ. (Germany). Inst. fuer Theoretische Physik; Haegler, P. [Technische Univ. Muenchen, Garching (Germany). Inst. fuer Theoretische Physik; Horsley, R. [Edinburgh Univ. (GB). School of Physics] (and others)

    2007-10-15

    The nucleon electromagnetic form factors continue to be of major interest for experimentalists and phenomenologists alike. They provide important insights into the structure of nuclear matter. For a range of interesting momenta they can be calculated on the lattice. The limiting factor continues to be the value of the pion mass. We present the latest results of the QCDSF collaboration using gauge configurations with two dynamical, non-perturbatively improved Wilson fermions at pion masses as low as 350 MeV. (orig.)

  16. Dermatological diseases in patients with chronic kidney disease.

    Science.gov (United States)

    Gagnon1, Amy L; Desai, Tejas

    2013-04-01

    There are a variety of dermatological diseases that are more commonly seen in patients with chronic kidney disease (CKD) and renal transplants than the general population. Directory of Open Access Journals (DOAJ), Google Scholar, Pubmed (NLM), LISTA (EBSCO) and Web of Science has been searched. Some cutaneous diseases are clearly unique to this population. Of them, Lindsay's Nails, xerosis cutis, dryness of the skin, nephrogenic systemic fibrosis and acquired perforating dermatosis have been described in chronic kidney disease patients. The most common malignancy found in all transplant recipients is non-melanoma skin cancer. It is important for patients and physicians to recognize the manifestations of skin disease in patients suffering from chronic kidney disease to mitigate the morbidity associated with these conditions.

  17. Wireless Monitoring for Patients with Cardiovascular Diseases and Parkinson's Disease.

    Science.gov (United States)

    Kefaliakos, Antonios; Pliakos, Ioannis; Charalampidou, Martha; Diomidous, Marianna

    2016-01-01

    The use of applications for mobile devices and wireless sensors is common for the sector of telemedicine. Recently various studies and systems were developed in order to help patients suffering from severe diseases such as cardiovascular diseases and Parkinson's disease. They present a challenge for the sector because such systems demand the flow of accurate data in real time and the use of specialized sensors. In this review will be presented some very interesting applications developed for patients with cardiovascular diseases and Parkinson's disease.

  18. The Legacy of G. Wilson Knight

    Directory of Open Access Journals (Sweden)

    Raw Laurence

    2017-06-01

    Full Text Available G. Wilson Knight (1897-1985 was one of the most influential Shakespearean critics of the mid-twentieth century. This piece surveys his work from 1930 until the early 1980s. Much affected by the First World War, he developed a style of criticism based on Christian principles of respect for other people and belief in an all-powerful God. Many of his most famous pieces (in THE WHEEL OF FIRE, for instance argue for human insignificance in an indifferent universe. It is up to all of us as individuals to develop methods of coping with this world. Wilson Knight’s ideas gained particular currency during the Second World War, when Britain’s very future seemed at risk due to the threat of Nazi invasion. Although much derided for his use of transcendent language—especially by his contemporary F. R. Leavis—Wilson Knight’s ideas seem to have acquired new significance in a globalized world, where individuals fight to main their identity in a technology-driven environment.

  19. Ted Wilson passes on the torch

    CERN Multimedia

    2003-01-01

    As part of the Laboratory's outreach programme, the CERN Accelerator School (CAS) brings together students and experienced physicists from all over the world with the aim of promoting the understanding of accelerator physics. As head of the School for 11 years, Ted Wilson became a CERN ambassador to the outside community. He retired in March, handing over the reigns of the CAS to Daniel Brandt. Ted Wilson and his assistant, Suzanne von Wartburg, during an EPAC meeting in 1994.The accelerator schools allowed some time for relaxation in the local surrounding for students as well as for the director of CAS.As a boy, Ted Wilson could have embarked on a career in pop music rather than physics, rubbing shoulders at secondary school in Liverpool with two of the future Beatles. But prefering classical music and answering the call of science, he took the more serious of the two paths, studying physics first at Oxford University then at the Rutherford Laboratory. After a year at CERN and four years at the Rutherford La...

  20. [Inpatients days in patients with respiratory diseases and periodontal disease].

    Science.gov (United States)

    Fernández-Plata, Rosario; Olmedo-Torres, Daniel; Martínez-Briseño, David; González-Cruz, Herminia; Casa-Medina, Guillermo; García-Sancho, Cecilia

    2017-01-01

    Periodontal disease is a chronic inflammatory gingival process that has been associated with the severity of respiratory diseases. In Mexico a prevalence of 78% was found in population with social security and > 60 years old. The aim of this study is to establish the association between periodontal disease and respiratory diseases according to the inpatient days. A cross-sectional study was conducted from January to December 2011. We included hospitalized patients, ≥ 18 years of age, without sedation or intubated. A dentist classified patients into two groups according to the severity of the periodontal disease: mild-to-moderate and severe. We estimated medians of inpatient days by disease and severity. Negative binomial models were adjusted to estimate incidence rate ratios and predicted inpatient days. 3,059 patients were enrolled. The median of observed and predicted inpatient days was higher in the group of severe periodontal disease (p disease, tuberculosis, and influenza had the highest incidence rates ratios of periodontal disease (p periodontal disease is positively -associated with inpatient days of patients with respiratory diseases.

  1. Quality of patients life with celiac disease

    OpenAIRE

    Bičíková, Michaela

    2016-01-01

    This thesis is dealing with the quality of life of patients with celiac disease. In the theoretical part, I am presenting the characteristics of celiac disease and I am describing its history briefly. For better orientation in the issue, I also joined a description of the anatomy of the small intestine and pathophysiology of celiac disease. In this thesis I am also dealing with incidence of disease, etiology and risk factors participating in the development of celiac disease, symptoms and the...

  2. Management of patients with chronic kidney disease

    African Journals Online (AJOL)

    management of the complications of CKD, e.g. renal anaemia, ... ARTICLE. Management of patients with chronic kidney disease. T Gerntholtz,1 FCP (SA); G Paget,2 ..... Telmisartan, ramipril, or both in patients at high risk for vascular events.

  3. Radiotherapy in patients with connective tissue diseases.

    Science.gov (United States)

    Giaj-Levra, Niccolò; Sciascia, Savino; Fiorentino, Alba; Fersino, Sergio; Mazzola, Rosario; Ricchetti, Francesco; Roccatello, Dario; Alongi, Filippo

    2016-03-01

    The decision to offer radiotherapy in patients with connective tissue diseases continues to be challenging. Radiotherapy might trigger the onset of connective tissue diseases by increasing the expression of self-antigens, diminishing regulatory T-cell activity, and activating effectors of innate immunity (dendritic cells) through Toll-like receptor-dependent mechanisms, all of which could potentially lead to breaks of immune tolerance. This potential risk has raised some debate among radiation oncologists about whether patients with connective tissue diseases can tolerate radiation as well as people without connective tissue diseases. Because the number of patients with cancer and connective tissue diseases needing radiotherapy will probably increase due to improvements in medical treatment and longer life expectancy, the issue of interactions between radiotherapy and connective tissue diseases needs to be clearer. In this Review, we discuss available data and evidence for patients with connective tissue diseases treated with radiotherapy. Copyright © 2016 Elsevier Ltd. All rights reserved.

  4. Heart valve disease among patients with hyperprolactinemia

    DEFF Research Database (Denmark)

    Steffensen, Maria Charlotte; Maegbaek, Merete Lund; Laurberg, Peter

    2012-01-01

    Increased risk of heart valve disease during treatment with certain dopamine agonists, such as cabergoline, has been observed in patients with Parkinson's disease. The same compound is used to treat hyperprolactinemia, but it is unknown whether this also associates with heart valve disease....

  5. Helping Patients Cope with Inflammatory Bowel Disease.

    Science.gov (United States)

    1984-01-01

    these strategies can be effective as long as the strategy leads to 1) containment of guilt, fear, anxiety, and grief, 2) generation of hope , 3...patients with a sense of hope and a feeling that the disease can be coped with. The most difficult aspect of living with inflammatory bowel disease is...Recovery (mastectomy patients) and the Ostomy Association. They consist of people with Inflammatory Bowel Disease. Members support one another by sharing

  6. Wilson loops, instantons and quantum mechanics

    International Nuclear Information System (INIS)

    Schiereck, Marc

    2014-05-01

    In this thesis we examine two different problems. The first is the computation of vacuum expectation values of Wilson loop operators in ABJM theory, the other problem is finding the instanton series of the refined topological string on certain local Calabi-Yau geometries in the Nekrasov-Shatashvili limit. Based on the description of ABJM theory as a matrix model, it is possible to find a description of it in terms of an ideal Fermi gas with a non-trivial one-particle Hamiltonian. The vacuum-expectation-values of Wilson loop operators in ABJM theory correspond to averages of operators in the statistical-mechanical problem. Using the WKB expansion, it is possible to extract the full 1/N expansion of the vevs, up to exponentially small contributions, for arbitrary Chern-Simons coupling. We compute these vevs for the 1/6 and 1/2 BPS Wilson loops at any winding number. These can be written in terms of the Airy function. The expressions we found reproduce the low genus results previously obtained in the 't Hooft expansion. In another problem we use mirror symmetry, quantum geometry and modularity properties of elliptic curves to calculate the refined free energies, given in terms of an instanton sum, in the Nekrasov-Shatashvili limit on non-compact toric Calabi-Yau manifolds, based on del Pezzo surfaces. Quantum geometry here is to be understood as a quantum deformed version of rigid special geometry, which has its origin in the quantum mechanical behavior of branes in the topological string B-model. We argue that in the Seiberg-Witten picture only the Coulomb parameters lead to quantum corrections, while the mass parameters remain uncorrected. In certain cases we also compute the expansion of the free energies at the orbifold point and the conifold locus. We compute the quantum corrections order by order on ℎ by deriving second order differential operators, which act on the classical periods.

  7. Hodgkin's disease: Analysis of 75 patients

    International Nuclear Information System (INIS)

    Akram, M.; Cheema, M. H.; Sana, S.; Aziz, Z.

    2001-01-01

    Objective: To evaluate patients suffering from Hodgkin's disease to identify its epidemiological characteristics, modalities of treatment and features of survival. Place and Duration of Study: The study was conducted between July 1997 to June 1999 at the Oncology Department of Jinnah Hospital, Lahore. Subjects and Methods: A total 75 patient with Hodgkin's disease underwent Cotswold staging classification, complete hematological, renal and hepatic profile, LDH and uric acid. Chest radiograph abdominal and pelvic ultrasonography and CT scan/MRI bone marrow biopsies. All the patients received combination chemotherapy. Patients with bulky disease received field radiation. Results: Median age was eight ( 18 years). Male to female ratio was 3.5:1, advanced disease accounted for 68%, mixed cellularity was documented in 61% of patients. Eighty-two percent of patients belonged to lower socioeconomic strata. Forty-six patients (65.4%) achieved complete remission (CR) Major toxicities were hematological with febrile neutropenia in 14.6% patients. OS of patients achieving CR with good socioeconomic status was superior compared to patients with lower socioeconomic status (p<0.02). Treatment delays were due to economic constraints, illiteracy, malnutrition and co-morbid conditions. Conclusion: Advanced disease, mixed cellularity and male predominance was common. Socioeconomic status had a significant impact on the presentation of the disease. Poor tolerance to chemotherapy and enhanced toxicities are especially seen in the low socioeconomic group. (author)

  8. Olin C. Wilson (1909-1994)

    Science.gov (United States)

    Preston, George W.

    1995-02-01

    Congenial, fiercely independent, and firmly grounded in the virtues of experimental science, Olin Wilson was a canny practitioner of the art of the possible in observational astrophysics as it flourished in the middle of the 20th century. He enjoyed a long association with the Astronomical Society of the Pacific as a contributor to its Publications, as President of the Society, and as recipient of its Catherine Wolfe Bruce Medal. By the time he departed, stellar astrophysics had matured and had acquired new dimensions due to Olin's diligence and curiosity. (SECTION: Obituary)

  9. Perturbative evaluation of the Thermal Wilson Loop

    International Nuclear Information System (INIS)

    Gava, E.; Jengo, R.

    1981-06-01

    The Thermal Wilson Loop 0 sup(β) dtauA 0 (tau, x-vector)>, representing an order parameter for the gauge theory and expected to be zero in the confining phase, is perturbatively evaluated up to the O(g 4 ) included for an SU(N) pure Yang-Mills theory. This evaluation should be meaningful at high temperature, β → 0. Its behaviour is discussed and a possible need for non-perturbative instanton-like contributions is pointed out. (author)

  10. On Wilson bases in $L^2(\\mathbb{R}^d)$

    DEFF Research Database (Denmark)

    Bownik, Marcin; Sielemann Jakobsen, Mads; Lemvig, Jakob

    2017-01-01

    A Wilson system is a collection of finite linear combinations of time frequency shifts of a square integrable function. It is well known that, starting from a tight Gabor frame for $L^{2}(\\mathbb{R})$ with redundancy 2, one can construct an orthonormal Wilson basis for $L^2(\\mathbb{R})$ whose...... of redundancy $2^k$, where $k=1, 2, \\hdots, d$. These results generalize most of the known results about the existence of orthonormal Wilson bases....

  11. Wilson and Gisvold's textbook of organic medicinal and pharmaceutical chemistry

    National Research Council Canada - National Science Library

    Wilson, Charles Owens; Beale, John Marlowe; Block, John H

    2011-01-01

    "For over half a century, Wilson and Gisvold's Textbook of Organic Medicinal and Pharmaceutical Chemistry has served the discipline of medicinal chemistry for both graduate and undergraduate pharmacy...

  12. Toward precision holography with supersymmetric Wilson loops

    Energy Technology Data Exchange (ETDEWEB)

    Faraggi, Alberto [Instituto de Física, Pontificia Universidad Católica de Chile,Casilla 306, Santiago (Chile); Zayas, Leopoldo A. Pando [The Abdus Salam International Centre for Theoretical Physics,Strada Costiera 11, 34014 Trieste (Italy); Michigan Center for Theoretical Physics, Department of Physics,University of Michigan, Ann Arbor, MI 48109 (United States); Silva, Guillermo A. [Instituto de Física de La Plata - CONICET & Departamento de Física - UNLP,C.C. 67, 1900 La Plata (Argentina); Trancanelli, Diego [Institute of Physics, University of São Paulo,05314-970 São Paulo (Brazil)

    2016-04-11

    We consider certain 1/4 BPS Wilson loop operators in SU(N)N=4 supersymmetric Yang-Mills theory, whose expectation value can be computed exactly via supersymmetric localization. Holographically, these operators are mapped to fundamental strings in AdS{sub 5}×S{sup 5}. The string on-shell action reproduces the large N and large coupling limit of the gauge theory expectation value and, according to the AdS/CFT correspondence, there should also be a precise match between subleading corrections to these limits. We perform a test of such match at next-to-leading order in string theory, by deriving the spectrum of quantum fluctuations around the classical string solution and by computing the corresponding 1-loop effective action. We discuss in detail the supermultiplet structure of the fluctuations. To remove a possible source of ambiguity in the ghost zero mode measure, we compare the 1/4 BPS configuration with the 1/2 BPS one, dual to a circular Wilson loop. We find a discrepancy between the string theory result and the gauge theory prediction, confirming a previous result in the literature. We are able to track the modes from which this discrepancy originates, as well as the modes that by themselves would give the expected result.

  13. Symmetries of Ginsparg-Wilson chiral fermions

    International Nuclear Information System (INIS)

    Mandula, Jeffrey E.

    2009-01-01

    The group structure of the variant chiral symmetry discovered by Luescher in the Ginsparg-Wilson description of lattice chiral fermions is analyzed. It is shown that the group contains an infinite number of linearly independent symmetry generators, and the Lie algebra is given explicitly. CP is an automorphism of this extended chiral group, and the CP transformation properties of the symmetry generators are found. The group has an infinite-parameter invariant subgroup, and the factor group, whose elements are its cosets, is isomorphic to the continuum chiral symmetry group. Features of the currents associated with these symmetries are discussed, including the fact that some different, noncommuting symmetry generators lead to the same Noether current. These are universal features of lattice chiral fermions based on the Ginsparg-Wilson relation; they occur in the overlap, domain-wall, and perfect-action formulations. In a solvable example, free overlap fermions, these noncanonical elements of lattice chiral symmetry are related to complex energy singularities that violate reflection positivity and impede continuation to Minkowski space.

  14. Peripheral vascular disease in patients with coronary artery disease

    International Nuclear Information System (INIS)

    Bashir, E. A.; Aslam, N.

    2001-01-01

    Objective: The prevalence of peripheral vascular disease (PVD) in patients with coronary artery disease (CAD) has been investigated in many different ways. It depends on the diagnostic methods used and definition of atherosclerotic manifestations in the different vascular beds. This study was carried out to determine the prevalence of PVD in the lower limbs in group of patients with CAD. Design: This is a prospective observational study. Place and duration of study: The study was conducted at Combined Military Hospital/Armed Forces institute of Cardiology, Rawalpindi, over a period of one year (January 1998 to January 1999). Subjects and methods: A total number of 200 patient (171 male and 29 females) aged 55-77 years with CAD. Diagnosed by coronary angiography were included in the study. In all patients blood pressure was recorded in both arms by sphygmomanometer and ankle systolic pressure by Doppler ultrasound. Ankle branchial index was calculated. Demographic data were obtained from the patient's hospital files. Results: The prevalence of PVD was 22.5% in patients with CAD in agreement with the results of most previous investigation. There was tendency towards increasing prevalence of PVD with more advanced CAD. Thirty patients (27%) showed evidence of triple vessel disease as compared to 13 patient (18%) with double vessel and 2 patients (1%) with single vessel disease. Conclusion: A non-invasive investigation of peripheral arterial circulation should be included early in the clinical consideration of patients with chest pain or similar symptoms suggesting coronary artery disease. Ankle systolic pressure appears to be simple and cheap technique for evaluation of results. (author)

  15. Rheumatic Disease Autoantibodies in Patients with Autoimmune Thyroid Diseases.

    Science.gov (United States)

    Nisihara, Renato; Pigosso, Yasmine; Prado, Nathalia; Utiyama, Shirley R R; Carvalho, Gisah; Skare, Thelma

    2018-06-04

    Patients with autoimmune thyroid diseases (ATD) such as Graves' disease (GD) and Hashimoto thyroiditis (HT) may have non-organ specific autoantibodies such as ANA (antinuclear antibodies) and RF (rheumatoid factor). To study the prevalence of rheumatic autoantibodies in a group of ATD patients without known rheumatic diseases and to evaluate its association with the patients' epidemiological and treatment profile. To follow positive non-organ specific autoantibody-positive ATD individuals to investigate whether they will develop a rheumatic disorder. A sample of 154 ATD patients (70 HT and 84 GD; mean age 45.3 ± 14.2) had determination of ANA by immunofluorescence, using hep-2 cells as substrate, extractable nuclear antigen (ENA) profile by ELISA kits and RF by latex agglutination. Epidemiological and treatment profile were obtained through chart review. These patients were followed for the mean period of five years, between 2010 to 2015. Positive ANA was found in 17.5% (27/154) of the patients: anti-Ro/SS-A in 4/154 (2.5%); anti-RNP in 4/154 (2.5%) and anti-La/SS-B in 3/154 (1.9%). None had anti-Sm antibodies. RF was detected in 12/154 (7.7%) of ATD patients and was more common in older individuals (p = 0.007). There was a positive association between the presence of RF and ANA (p = 0.03; OR = 3.89; 95% CI = 1.1-13.3). None of the patients with positive autoantibodies developed clinical rheumatic diseases during the period of observation. We found rheumatic autoantibodies in 17.5% of ATD patients without rheumatic diseases. None of them were associated with the appearance of clinical rheumatic disorder during the period of five years. ©2018The Author(s). Published by S. Karger AG, Basel.

  16. Periodontal disease and the special needs patient.

    Science.gov (United States)

    Brown, Louise F; Ford, Pauline J; Symons, Anne L

    2017-06-01

    Individuals with special needs are at more risk of dental disease, including periodontal diseases, and have a greater prevalence and incidence of periodontal diseases than the rest of the population. Genetic or medical conditions, and/or the use of prescription medication or recreational substances, may further increase the risk for susceptibility to periodontal disease. The success of preventing or controlling periodontal diseases amongst this group of patients has not been established. Even those individuals who access regular and comprehensive dental care appear to develop periodontal diseases as they age, and this development occurs at a rate comparable to the natural history of the disease. The reasons behind the lack of success of interventions in reducing the incidence of periodontal diseases are complex and part of the lack of success may relate to the professional challenges in treating individuals with special needs. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Dental considerations in patients with heart disease

    OpenAIRE

    Cruz Pamplona, Marta; Jiménez Soriano, Yolanda; Sarrión Pérez, María Gracia

    2011-01-01

    Summary: Cardiovascular diseases are one of the main causes of death in the developed world, and represent the first cause of mortality in Spain. In addition to their associated morbidity, such disorders are important due to the number of affected individuals and the many patients subjected to treatment because of them. Objective: An update is provided on the oral manifestations seen in patients with arterial hypertension, ischemic heart disease, arrhythmias and heart failure, and...

  18. Pentazocine dependence among sickle cell disease patients ...

    African Journals Online (AJOL)

    Introduction: Sickle cell disease is a chronic disease. Severe bone pain is commonly the hallmark of clinical features. This commonly necessitates the use of analgesics especially Opioids which unfortunately have a high potential to produce dependence. The complications of dependence in patients on any psychoactive ...

  19. Woodrow Wilson: Prophet of Peace. Teaching with Historic Places.

    Science.gov (United States)

    Goehner, Thomas B.

    This lesson describes President Woodrow Wilson's struggle with and his ultimate failure at achieving lasting world peace through the League of Nations. The lesson focuses on November 23, 1923, the eve of the fifth anniversary of the Armistice that concluded World War I, when a frail and ill Wilson was ready to deliver a commemorative address by…

  20. Density-dependent mass gain by Wilson's Warblers during stopover

    Science.gov (United States)

    Jeffrey F. Kelly; Linda S. DeLay; Deborah M. Finch

    2002-01-01

    The need restore energetic reserves at stopover sites constrains avian migration ecology. To describe that constraint, we examined relationships among mass gained by Wilson's Warblers (Wilsonia pusilla) during stopover, abundance of Wilson's Warblers (i.e. capture rate), and arthropod abundance during autumn migration. We found that amount...

  1. Large Wilson loop averages from the Schwinger-Dyson equation

    International Nuclear Information System (INIS)

    Xue Shesheng

    1987-01-01

    Using Schwinger-Dyson equations for the large Wilson loop in abelian lattice gauge theories, we evaluate the vacuum expectation values of the Wilson loop of sizes 1x2, 2x2, 2x3, and so on, from which the string tension is extracted. (orig.)

  2. Near BPS Wilson loop in β-deformed theories

    International Nuclear Information System (INIS)

    Chu, C-S; Giataganas, Dimitrios

    2007-01-01

    We propose a definition of the Wilson loop operator in the N = 1 β-deformed supersymmetric Yang-Mills theory. Although the operator is not BPS, it has a finite expectation value at least up to order (g 2 N) 2 . This does not happen generally for a generic non-BPS Wilson loop whose expectation value is UV divergent. For this reason we call this a near-BPS Wilson loop. We derive the general form of the boundary condition satisfied by the dual string worldsheet and find that it is deformed. Finiteness of the expectation value of the Wilson loop fixes the boundary condition to be one which is characterized by the vielbein of the deformed supergravity metric. The Wilson loop operators provide natural candidates as dual descriptions to some of the existing D-brane configurations in the Lunin-Maldacena background. We also construct the string dual configuration for a near-1/4 BPS circular Wilson loop operator. The string lies on a deformed three-sphere instead of a two-sphere as in the undeformed case. The expectation value of the Wilson loop operator is computed using the AdS/CFT correspondence and is found to be independent of the deformation. We conjecture that the exact expectation value of the Wilson loop is given by the same matrix model as in the undeformed case

  3. Scaling properties of Wilson loops pierced by P-vortices

    DEFF Research Database (Denmark)

    Dunn, Patrick; Greensite, Jeffrey Paul

    2012-01-01

    P-vortices, in an SU(N) lattice gauge theory, are excitations on the center-projected Z(N) lattice. We study the ratio of expectation values of SU(2) Wilson loops, on the unprojected lattice, linked to a single P-vortex, to that of Wilson loops which are not linked to any P-vortices. When...

  4. Wilson loops to 20th order numerical stochastic perturbation theory

    Energy Technology Data Exchange (ETDEWEB)

    Horsley, R. [Edinburgh Univ. (United Kingdom). School of Physics; Hotzel, G.; Perlt, H.; Schiller, A. [Leipzig Univ. (Germany). Inst. fuer Theoretische Physik; Ilgenfritz, E.M. [Humboldt-Universitaet, Berlin (Germany). Inst. fuer Physik; Joint Institute for Nuclear Research, VBLHEP, Dubna (Russian Federation); Millo, R.; Rakow, P.E.L. [Liverpool Univ. (Germany). Theoretical Physics Div.; Nakamura, Y. [RIKEN Advanced Institute for Computational Science, Kobe, Hyogo (Japan); Schierholz, G. [Deutsches Elektronen-Synchrotron (DESY), Hamburg (Germany)

    2012-05-15

    We calculate Wilson loops of various sizes up to 20 loops in SU(3) pure lattice gauge theory at different lattice sizes for Wilson gauge action using the technique of numerical stochastic perturbation theory. This allows us to investigate the perturbative series for various Wilson loops at high loop orders. We observe differences in the behavior of those series as function of the loop order. Up to n=20 we do not find evidence for the factorial growth of the expansion coefficients often assumed to characterize an asymptotic series. Based on the actually observed behavior we sum the series in a model parametrized by hypergeometric functions. Alternatively we estimate the total series in boosted perturbation theory using information from the first 14 loops. We introduce generalized ratios of Wilson loops of different sizes. Together with the corresponding Wilson loops from standard Monte Carlo measurements they enable us to assess their non-perturbative parts.

  5. Color Discrimination in Patients with Gaucher Disease and Parkinson Disease.

    Science.gov (United States)

    Simon-Tov, Shlomi; Dinur, Tama; Giladi, Nir; Bar-Shira, Anat; Zelis, Mayaan; Zimran, Ari; Elstein, Deborah

    2015-01-01

    Poor color discrimination among patients with Parkinson disease (PD) has long been recognized. It has been shown that carrying one or two mutations in the β-glucocerebrosidase gene (GBA) for the autosomal disease Gaucher disease (GD), as based initially on clinical evidence, is a genetic risk factor for early-onset PD. The purpose of this study was to assess color discrimination in patients with one or two GBA mutations relative to healthy controls to ascertain whether this function is affected when persons with GD or even one GBA mutation develop PD. The Farnsworth-Munsell 100 hue test (FMHT) was evaluated among patients with GD+PD compared to patients with GD only, obligate GBA carriers with and without PD, patients with PD only, and healthy controls. FMHT outcome include computer-generated TES (Total Error Score) and values recommended by Vingrys & King-Smith. Six groups of 10 persons were tested. Significant differences were seen for male GD+PD and for age in PD. The highest mean TES was in the PD only group, the lowest in the GD only group. There was a significant difference because of PD in groups with GD and GBA carriers. GD+PD means were between GD only and PD only mean scores. These findings confirm that PD impacts color discrimination, more in males with GD+PD but nonetheless, GD+PD patients (but not GBA carriers) had better scores than PD only patients.

  6. ABJM Wilson loops in arbitrary representations

    Energy Technology Data Exchange (ETDEWEB)

    Hatsuda, Yasuyuki [Deutsches Elektronen-Synchrotron (DESY), Hamburg (Germany). Theory Group; Tokyo Institute of Technology (Japan). Dept. of Physics; Honda, Masazumi [High Energy Accelerator Research Organization (KEK), Tsukuba, Ibaraki (Japan); Moriyama, Sanefumi [Nagoya Univ. (Japan). Kobayashi Maskawa Inst. and Graduate School of Mathematics; Okuyama, Kazumi [Shinshu Univ., Matsumoto, Nagano (Japan). Dept. of Physics

    2013-06-15

    We study vacuum expectation values (VEVs) of circular half BPS Wilson loops in arbitrary representations in ABJM theory. We find that those in hook representations are reduced to elementary integrations thanks to the Fermi gas formalism, which are accessible from the numerical studies similar to the partition function in the previous studies. For non-hook representations, we show that the VEVs in the grand canonical formalism can be exactly expressed as determinants of those in the hook representations. Using these facts, we can study the instanton effects of the VEVs in various representations. Our results are consistent with the worldsheet instanton effects studied from the topological string and a prescription to include the membrane instanton effects by shifting the chemical potential, which has been successful for the partition function.

  7. ABJM Wilson loops in arbitrary representations

    International Nuclear Information System (INIS)

    Hatsuda, Yasuyuki; Moriyama, Sanefumi; Okuyama, Kazumi

    2013-06-01

    We study vacuum expectation values (VEVs) of circular half BPS Wilson loops in arbitrary representations in ABJM theory. We find that those in hook representations are reduced to elementary integrations thanks to the Fermi gas formalism, which are accessible from the numerical studies similar to the partition function in the previous studies. For non-hook representations, we show that the VEVs in the grand canonical formalism can be exactly expressed as determinants of those in the hook representations. Using these facts, we can study the instanton effects of the VEVs in various representations. Our results are consistent with the worldsheet instanton effects studied from the topological string and a prescription to include the membrane instanton effects by shifting the chemical potential, which has been successful for the partition function.

  8. Wilson Dslash Kernel From Lattice QCD Optimization

    Energy Technology Data Exchange (ETDEWEB)

    Joo, Balint [Jefferson Lab, Newport News, VA; Smelyanskiy, Mikhail [Parallel Computing Lab, Intel Corporation, California, USA; Kalamkar, Dhiraj D. [Parallel Computing Lab, Intel Corporation, India; Vaidyanathan, Karthikeyan [Parallel Computing Lab, Intel Corporation, India

    2015-07-01

    Lattice Quantum Chromodynamics (LQCD) is a numerical technique used for calculations in Theoretical Nuclear and High Energy Physics. LQCD is traditionally one of the first applications ported to many new high performance computing architectures and indeed LQCD practitioners have been known to design and build custom LQCD computers. Lattice QCD kernels are frequently used as benchmarks (e.g. 168.wupwise in the SPEC suite) and are generally well understood, and as such are ideal to illustrate several optimization techniques. In this chapter we will detail our work in optimizing the Wilson-Dslash kernels for Intel Xeon Phi, however, as we will show the technique gives excellent performance on regular Xeon Architecture as well.

  9. Mortality in patients with Parkinson's disease

    DEFF Research Database (Denmark)

    Wermuth, L; Stenager, E; Stenager, E

    1995-01-01

    INTRODUCTION: After the introduction of L-dopa the mortality rate in Parkinson's disease (PD) patients has changed, but is still higher than in the background population. MATERIAL & METHODS: Mortality, age at death and cause of death in a group of PD patients compared with the background population...

  10. Retrograde amnesia in patients with Alzheimer's disease

    NARCIS (Netherlands)

    Meeter, M.; Eijsackers, E; Mulder, J

    2006-01-01

    Patients with mild to moderate Alzheimer's disease and normal controls were tested on two retrograde memory tests, one based on public events, and the other querying autobiographical memory. On both tests, patients showed strong decrements as compared to normal controls, pointing to retrograde

  11. [Hypothyroidism in patients with heart disease].

    Science.gov (United States)

    Jiskra, Jan

    Hypothyroidism is frequently found in patients with heart disease. It is a risk factor for atherosclerosis and ischemic heart disease and has a direct negative effect on both the left and right ventricular functions (hypothyroidism-induced cardiomyopathy). The confirmed manifest hypothyroidism is always a reason for replacement therapy with levothyroxine; regarding patients with heart disease, we always begin treatment with a small dose and increase it gradually. The treatment of subclinical hypothyroidism in patients with heart disease is disputable and its benefits probably depend on age. At a higher age, the therapy-related risks often outweigh its benefits, so we make do with the target levels of the thyroid stimulating hormone being within the upper band of the normal range, or even slightly above it, rather than overdosing the patient. To summarize in a simplified way, the treatment of subclinical hypothyroidism in patients with heart disease is the most effective in younger individuals, mainly those aged below 65, while at a higher age > 80 years the risk usually outweighs the benefit.Key words: cardiovascular risk - hypothyroidism - ischemic heart disease - left ventricular dysfunction - right ventricular dysfunction - subclinical hypothyroidism - thyroid peroxidase antibodies.

  12. [Thyroid cancer in patients with Grave's Disease].

    Science.gov (United States)

    Mssrouri, R; Benamr, S; Essadel, A; Mdaghri, J; Mohammadine, El H; Lahlou, M-K; Taghy, A; Belmahi, A; Chad, B

    2008-01-01

    To evaluate the incidence of thyroid carcinoma in patients operated on for Graves' disease, to identify criteria which may predict malignancy, and to develop a practical approach to determine the extensiveness of thyroidectomy. Retrospective study of all patients who underwent thyroidectomy for Graves' disease between 1995 and 2005. 547 patients underwent subtotal thyroidectomy for Graves' disease during this period. Post-operative pathology examination revealed six cases of thyroid cancer (1.1%). All six cases had differentiated thyroid carcinoma (papillary carcinoma in 3 cases, follicular carcinoma in 2 cases and papillo-follicular carcinoma in 1 case). The indication for initial thyroidectomy was a palpable thyroid nodule in 3 cases (50%), failure of medical treatment for Grave's disease in 2 cases (33%), and signs of goiter compression in 1 case (17%). Five patients underwent re-operative total thyroidectomy. This study shows that while malignancy in Grave's disease is uncommon, the presence of thyroid nodule(s) in patients with Grave's disease may be considered as an indication for radical surgery. The most adequate radical surgery in this situation is to perform a total thyroidectomy.

  13. Knowledge acquisition in patients with heart disease

    OpenAIRE

    Rydell Karlsson, Monica

    2007-01-01

    The general aim was to evaluate different aspects of the knowledge acquisition process in patients with heart disease. Three different education programs were evaluated. In Paper I 208 patients with systolic heart failure (HF) aged >60 years, were included. They were randomized to the nurse-based outpatient clinic or to the patients´ general practitioners (GP). The aim was to assess effects of a nurse-based management program intended to increase the knowledge of the H...

  14. Current treatments for patients with Alzheimer disease.

    Science.gov (United States)

    Osborn, Gerald G; Saunders, Amanda Vaughn

    2010-09-01

    There is neither proven effective prevention for Alzheimer disease nor a cure for patients with this disorder. Nevertheless, a spectrum of biopsychosocial therapeutic measures is available for slowing progression of the illness and enhancing quality of life for patients. These measures include a range of educational, psychological, social, and behavioral interventions that remain fundamental to effective care. Also available are a number of pharmacologic treatments, including prescription medications approved by the US Food and Drug Administration for Alzheimer disease, "off-label" uses of medications to manage target symptoms, and controversial complementary therapies. Physicians must make the earliest possible diagnosis to use these treatments most effectively. Physicians' goals should be to educate patients and their caregivers, to plan long-term care options, to maximally manage concurrent illnesses, to slow and ameliorate the most disabling symptoms, and to preserve effective functioning for as long as possible. The authors review the various current treatments for patients with Alzheimer disease.

  15. [Disease management for chronic heart failure patient].

    Science.gov (United States)

    Bläuer, Cornelia; Pfister, Otmar; Bächtold, Christa; Junker, Therese; Spirig, Rebecca

    2011-02-01

    Patients with chronic heart failure (HF) are limited in their quality of life, have a poor prognosis and face frequent hospitalisations. Patient self-management was shown to improve quality of life, reduce rehospitalisations and costs in patients with chronic HF. Comprehensive disease management programmes are critical to foster patient self-management. The chronic care model developed by the WHO serves as the basis of such programmes. In order to develop self-management skills a needs orientated training concept is mandatory, as patients need both knowledge of the illness and the ability to use the information to make appropriate decisions according to their individual situation. Switzerland has no established system for the care of patients with chronic diseases in particular those with HF. For this reason a group of Swiss experts for HF designed a model for disease management for HF patients in Switzerland. Since 2009 the Swiss Heart Foundation offers an education programme based on this model. The aim of this programme is to offer education and support for practitioners, patients and families. An initial pilot evaluation of the program showed mixed acceptance by practitioners, whereas patient assessed the program as supportive and in line with their requirements.

  16. Cardiometabolic factors and disease duration in patients with Parkinson's disease.

    Science.gov (United States)

    Cassani, Erica; Cereda, Emanuele; Barichella, Michela; Madio, Carmen; Cancello, Raffaella; Caccialanza, Riccardo; Zini, Michela; Cilia, Roberto; Pezzoli, Gianni

    2013-01-01

    Previous studies have reported that patients with Parkinson's disease (PD) have a favorable cardiometabolic risk profile. The aim of this study was to investigate the relationship between cardiometabolic risk factors and the duration of disease. One hundred and fifty patients with PD (56.7% men) were studied, measuring body mass index (BMI), waist circumference (WC), body fat percentage (BF%) by impedance, fasting glucose, serum lipids, and transaminases. In sex- and age-adjusted correlation models, duration of PD was inversely related to BMI (r = -0.20; P HDL) levels were positively correlated with disease duration (P HDL-cholesterol ratio was also inversely associated with duration of PD (P HDL levels and total HDL-cholesterol ratio were favorably associated with duration of PD. This factor may contribute to cardiometabolic protection in PD. The mechanisms underlying this association deserve further investigation. Copyright © 2013 Elsevier Inc. All rights reserved.

  17. Celiac disease: implications for patient management.

    Science.gov (United States)

    Ryan, Megan; Grossman, Sheila

    2011-01-01

    Celiac disease is an autoimmune disorder that is known specifically for causing inflammation of the mucosa in the small intestine. Through multiple diagnostic and screening tools such as small intestinal biopsy sample, serological testing, and human leukocyte antigen testing, healthcare providers can diagnose this disease that contains components related to genetic predisposition and intake of gluten proteins found in wheat, barley, and rye. There are some who believe that having an autoimmune disease may predispose one to acquiring another disease. With patients experiencing mostly diarrhea, abdominal pain, and weight loss, the implementation of a gluten-free diet is the treatment that healthcare providers recommend. Through monitoring gluten intake and providing nutritional supplementation, those diagnosed with celiac disease can lead a relatively normal life without complications. With celiac disease affecting all age ranges in the population, and with a documented higher frequency, there is a growing awareness in society that can be easily seen in grocery stores, restaurants, and food manufacturers.

  18. Dental profile of patients with Gaucher disease

    Science.gov (United States)

    Fischman, Stuart L; Elstein, Deborah; Sgan-Cohen, Harold; Mann, Jonathan; Zimran, Ari

    2003-01-01

    Background This study was conducted to determine whether patients with Gaucher disease had significant dental pathology because of abnormal bone structure, pancytopenia, and coagulation abnormalities. Methods Each patient received a complete oral and periodontal examination in addition to a routine hematological evaluation. Results Gaucher patients had significantly fewer carious lesions than otherwise healthy carriers. Despite prevalence of anemia, there was no increase in gingival disease; despite the high incidence of thrombocytopenia, gingival bleeding was not noted; and despite radiological evidence of bone involvement, there was no greater incidence loss of teeth or clinical tooth mobility. Conclusions These data represent the first survey of the oral health of a large cohort of patients with Gaucher disease. It is a pilot study of a unique population and the results of the investigation are indications for further research. Based on our findings, we recommend regular oral examinations with appropriate dental treatment for patients with Gaucher disease as for other individuals. Consultation between the dentist and physician, preferably one with experience with Gaucher disease, should be considered when surgical procedures are planned. PMID:12875661

  19. Mortality in patients with pituitary disease.

    LENUS (Irish Health Repository)

    Sherlock, Mark

    2010-06-01

    Pituitary disease is associated with increased mortality predominantly due to vascular disease. Control of cortisol secretion and GH hypersecretion (and cardiovascular risk factor reduction) is key in the reduction of mortality in patients with Cushing\\'s disease and acromegaly, retrospectively. For patients with acromegaly, the role of IGF-I is less clear-cut. Confounding pituitary hormone deficiencies such as gonadotropins and particularly ACTH deficiency (with higher doses of hydrocortisone replacement) may have a detrimental effect on outcome in patients with pituitary disease. Pituitary radiotherapy is a further factor that has been associated with increased mortality (particularly cerebrovascular). Although standardized mortality ratios in pituitary disease are falling due to improved treatment, mortality for many conditions are still elevated above that of the general population, and therefore further measures are needed. Craniopharyngioma patients have a particularly increased risk of mortality as a result of the tumor itself and treatment to control tumor growth; this is a key area for future research in order to optimize the outcome for these patients.

  20. [Serum glycosaminoglycans in Graves' disease patients].

    Science.gov (United States)

    Winsz-Szczotka, Katarzyna B; Olczyk, Krystyna Z; Koźma, Ewa M; Komosińska-Vassev, Katarzyna B; Wisowski, Grzegorz R; Marcisz, Czesław

    2006-01-01

    The aim of the study was to determine the blood serum sulfated glycosaminoglycans (GAGs) and hyaluronic acid (HA) concentration of Graves' disease patients before treatment and after attainment of the euthyroid state. The study was carried out on the blood serum obtained from 17 patients with newly recognised Graves' disease and from the same patients after attainment of the euthyroid state. Graves' patients had not any clinical symptoms neither of ophthalmopathy nor pretibial myxedema. GAGs were isolated from the blood serum by the multistage extraction and purification using papaine hydrolysis, alkali elimination, as well as cetylpyridium chloride binding. Total amount of GAGs was quantified by the hexuronic acids assay. HA content in obtained GAGs sample was evaluated by the ELISA method. Increased serum concentration of sulfated GAGs in non-treated Graves' disease patients was found. Similarly, serum HA level in untreated patients was significantly elevated. The attainment of euthyroid state was accompanied by the decreased serum sulfated GAGs level and by normalization of serum HA concentration. In conclusion, the results obtained demonstrate that the alterations of GAGs metabolism connected with Graves' disease can lead to systemic changes of the extracellular matrix properties.

  1. Cardiovascular disease in patients with rheumatoid arthritis

    DEFF Research Database (Denmark)

    Naranjo, Antonio; Sokka, Tuulikki; Descalzo, Miguel

    2008-01-01

    ABSTRACT: INTRODUCTION: We analyzed the prevalence of cardiovascular (CV) disease in patients with rheumatoid arthritis (RA) and its association with traditional CV risk factors, clinical features of RA, and the use of disease-modifying antirheumatic drugs (DMARDs) in a multinational cross...... by patients. The clinical assessment included a review of clinical features of RA and exposure to DMARDs over the course of RA. Comorbidities were recorded; CV morbidity included myocardial infarction, angina, coronary disease, coronary bypass surgery, and stroke. Traditional risk factors recorded were...... any CV event and age and male gender and between extra-articular disease and myocardial infarction. Prolonged exposure to methotrexate (HR 0.85; 95% CI 0.81 to 0.89), leflunomide (HR 0.59; 95% CI 0.43 to 0.79), sulfasalazine (HR 0.92; 95% CI 0.87 to 0.98), glucocorticoids (HR 0.95; 95% CI 0.92 to 0...

  2. LOCAL ANESTHETICS IN PATIENTS WITH CARDIOVASCULAR DISEASES.

    Directory of Open Access Journals (Sweden)

    risto Daskalov

    2015-03-01

    Full Text Available A significant problem in the dental medicine is pain alleviation. Many studies in the dental anesthesiology result in the production of new agents for locoregional anesthesia. Objective: This article aim to present the results of the last studies on the effect of the local anesthetics used in the oral surgery on patients with cardiovascular diseases. Material: A general review of the existing literature on the effect of the adrenaline, included as vasoconstrictor in the local anesthetics, used in patients with cardiovascular diseases is made. The benefits of vasoconstrictors for the quality of the anesthetic effect are proven. Conclusion: A small amount of adrenaline in the anesthetic solution does not result in complications development in patients with controlled cardiovascular diseases. Articaine is recommended agent of first choice for local anesthesia in the oral surgery.

  3. Neoplastic pericardial disease. Analysis of 26 patients

    Directory of Open Access Journals (Sweden)

    Helena Nogueira Soufen

    1999-01-01

    Full Text Available PURPOSE: To characterize patients with neoplastic pericardial disease diagnosed by clinical presentation, complementary test findings, and the histological type of tumor. METHODS: Twenty-six patients with neoplastic pericardial disease were retrospectively analyzed. RESULTS: Clinical manifestations and abnormalities in chest roentgenograms and electrocardiograms were frequent, but were not specific. Most patients underwent surgery. There was a high positivity of the pericardial biopsy when associated with the cytological analysis of the pericardial liquid used to determine the histological type of the tumor, particularly when the procedure was performed with the aid of pericardioscopy. CONCLUSION: The correct diagnosis of neoplastic pericardial disease involves suspicious but nonspecific findings during clinical examination and in screen tests. The suspicious findings must be confirmed through more invasive diagnostic approaches, in particular pericardioscopy with biopsy and cytological study.

  4. Suicide in patients with motor neuron disease

    DEFF Research Database (Denmark)

    Bak, Søren; Stenager, E N; Stenager, Egon

    1994-01-01

    The aim of the present study was to assess, through an epidemiological study, whether suicide risk is increased in patients with motor neuron disease (MND). The study involved 116 patients with MND. In the study period 92 patients died, 47 males and 45 females. No patients committed suicide....... The number of expected suicides was 0.27 for males and 0.12 for females, a total of 0.38. The difference between observed and expected suicides was not statistically significant for males and females....

  5. Stress Ulcer Disease in the Burned Patient

    Science.gov (United States)

    1981-03-01

    appearance of gastritis and duodenitis and their morphologic and histologic characteristics point to impaired mucosal blood flow and focal is...Gastric Duodenal disease disease study study Total number of patients 54 37 Gastritis 45 18 Duodenitis 34 15 Acute gastric ulcer 14 6...early mucosai slough, which ap- peared to be incipient ulcerations, showed in- farction necrosis on histologic examination. The le- sions of each of

  6. Operator product expansion on the lattice: analytic Wilson coefficients

    Science.gov (United States)

    Perlt, Holger

    2006-12-01

    We present first results for Wilson coefficients of operators up to first order in the covariant deriva- tives for the case of Wilson fermions. They are derived from the off-shell Compton scattering amplitude Wµν (a, p, q) of massless quarks with momentum p. The Wilson coefficients are clas- sified according to the transformation of the corresponding operators under the hypercubic group H(4). We give selected examples for a special choice of the momentum transfer q. All Wil- son coefficients are given in closed analytic form and in an expansion in powers of a up to first corrections.

  7. Heart disease in patients with pulmonary embolism.

    Science.gov (United States)

    Pesavento, Raffaele; Piovella, Chiara; Prandoni, Paolo

    2010-09-01

    Several heart diseases are promoters of left-side cardiac thrombosis and could lead to arterial embolism. The same mechanism may be responsible for right-side cardiac thrombosis and therefore be a direct source of pulmonary embolism. Yasuoka et al. showed a higher incidence of perfusion defects in lung scan in patients with spontaneous echocontrast in the right atrium than in those without it (40% and 7% respectively; P=0.006). We recently assessed the prevalence of heart diseases in 11.236 consecutive patients older than 60 years discharged from Venetian hospitals with a diagnosis of pulmonary embolism. We observed a higher prevalence of all-cause heart diseases (odds ratio 1.26; 95% confidence interval, 1.13-1.40) in patients with a diagnosis of pulmonary embolism alone (secondary or unprovoked) compared with those discharged with a diagnosis of pulmonary embolism associated with deep vein thrombosis, generating the hypothesis that some specific heart diseases in older patients could themselves be a possible source of pulmonary emboli. Further prospective studies are required to confirm these findings, which have the potential to open new horizons for the interpretation and management of venous thromboembolic disease.

  8. Pancytopenia in a Patient with Grave's Disease.

    Science.gov (United States)

    Loh, Huai Heng; Tan, Florence

    2013-08-01

    Pancytopenia can rarely complicate Grave's disease. It can be due to uncontrolled thyrotoxicosis or as a result of rare side effect of antithyroid medication. Pernicious anemia leading to Vitamin B12 deficiency is another rare associated cause. We report a case of a patient with Grave's disease and undiagnosed pernicious anemia whom was assumed to have antithyroid drug induced pancytopenia. Failure to recognize this rare association of pernicious anemia as a cause of pancytopenia had resulted in delay in treatment and neurological complication in our patient.

  9. Cushing's disease in the elderly patient

    Directory of Open Access Journals (Sweden)

    Maritza Cardosa Samón

    2012-05-01

    Full Text Available Introduction: Cushing's disease arises from increased ACTH secretion from a pituitary tumor that stimulates the area fasciculata of the adrenal cortex and produces hypersecretion of glucocorticoids. Objectives: To explain the clinical and humoral manifestations of Cushing's disease in elderly adults. Methods: The article is a descriptive and retrospective study of a case report on a 62 year old patient that is admitted to our Center with manifestations of facial plethora and centripetal obesity. Onset was characterized by hypertension and diabetes mellitus. Definitive diagnosis was Cushing's disease from a macroadenoma with increased ACTH secretion.

  10. [Metronome therapy in patients with Parkinson disease].

    Science.gov (United States)

    Enzensberger, W; Oberländer, U; Stecker, K

    1997-12-01

    We studied 10 patients with Parkinson's disease and 12 patients with Parkinson-plus-syndrome, trying to improve patients' gait by application of various external rhythmic stimuli, including metronome stimulation (96 beats per minute = middle andante). The test course of the patients was 4 x 10 meters and 3 U-turns. The patients' gait quality under stimulation was compared with their free walk (velocity, number of steps, number of freezing episodes). Metronome stimulation significantly reduced the time and number of steps needed for the test course and also diminished the number of freezing episodes. March music stimulation was less effective and tactile stimulation (rhythmically tapping on the patient's shoulder) even produced negative results. The positive effect of metronome stimulation was also found, when the tests were not performed inside the hospital building, but outside in the hospital parc. Metronome stimulation was comparably effective in both patient sub-groups examined in this study (M. Parkinson, Parkinson-plus-syndrome) and seems to be an important additional help in the treatment of these patients. Electronical metronomes are not expensive, easy in handling, and portable. A theoretical explanation of metronome stimulation effectivity in patients with Parkinson's disease still needs to be elucidated.

  11. Visualization of logistic algorithm in Wilson model

    Science.gov (United States)

    Glushchenko, A. S.; Rodin, V. A.; Sinegubov, S. V.

    2018-05-01

    Economic order quantity (EOQ), defined by the Wilson's model, is widely used at different stages of production and distribution of different products. It is useful for making decisions in the management of inventories, providing a more efficient business operation and thus bringing more economic benefits. There is a large amount of reference material and extensive computer shells that help solving various logistics problems. However, the use of large computer environments is not always justified and requires special user training. A tense supply schedule in a logistics model is optimal, if, and only if, the planning horizon coincides with the beginning of the next possible delivery. For all other possible planning horizons, this plan is not optimal. It is significant that when the planning horizon changes, the plan changes immediately throughout the entire supply chain. In this paper, an algorithm and a program for visualizing models of the optimal value of supplies and their number, depending on the magnitude of the planned horizon, have been obtained. The program allows one to trace (visually and quickly) all main parameters of the optimal plan on the charts. The results of the paper represent a part of the authors’ research work in the field of optimization of protection and support services of ports in the Russian North.

  12. Obituary: Peter Robert Wilson, 1929-2007

    Science.gov (United States)

    Snodgrass, Herschel B.

    2009-01-01

    It is with great sadness that I report the passing of Peter Robert Wilson, a well-known and well-loved figure in the solar physics community. Peter was on the faculty of the Department of Applied Mathematics at the University of Sydney for 39 years, and Chair of the department for 24 of these years. He was the author or co-author of more than 80 scientific research papers and a book, Solar and Stellar Activity Cycles (1994), published by Cambridge University Press. He died suddenly of a heart attack, at his home in Glebe, Australia, in the early morning of 11 November 2007. Peter was an organizer of, and participant in, many international conferences and workshops. He traveled extensively, holding visiting appointments at the University of Colorado (JILA), at Cambridge University, at the College de France (Paris), and at the California Institute of Technology [CalTech]. Most of his work was in the field of solar physics, but he also did some work on the philosophy of science and on tides. Peter came from a line of mathematicians. His father, Robert Wilson, immigrated to Australia from Glasgow in 1911, and became a mathematics teacher at Scotch College, a private school in Melbourne. There his name was changed to 'Bill' because 'Bob' was already taken." Peter's enjoyment of this story as characteristic of Australian academia (as any fan of Monty Python would understand) is indicative of his infectious sense of humor. In a similar vein, he claimed ancestry traced back to the eighteenth-century Scottish mathematician Alexander Wilson, Professor of Astronomy at the University of Glasgow. That Wilson is famous in the solar physics community for his discovery, known as the "Wilson Effect," of the photospheric depressions associated with sunspots. Peter himself could not resist writing a paper on this subject, and was delighted when the bait was taken by some less-informed colleagues who chided him for "naming an effect after himself." "Bill" Wilson married Naomi

  13. Perioperative Management of Patients with Rheumatic Diseases

    Science.gov (United States)

    Bissar, Lina; Almoallim, Hani; Albazli, Khaled; Alotaibi, Manal; Alwafi, Samar

    2013-01-01

    This paper aims to explore the assessment of patients with rheumatologic diseases, especially rheumatoid arthritis (RA), before undergoing orthopedic surgery. Perioperative assessment ensures an early diagnosis of the patient's medical condition, overall health, medical co-morbidities, and the assessment of the risk factors associated with the proposed procedures. Perioperative assessment allows for proper postoperative management of complications and of the management of drugs such as disease-modifying anti-rheumatic drugs (DMARD) and anti-platelets, and corticosteroids. The assessment also supports follow up plans, and patient education. Perioperative assessment enables the discussion of the proposed treatment plans and the factors associated with them in each case among the different specialists involved to facilitate an appropriate early decision-making about the assessment and treatment of patients with rheumatologic diseases. It also enables the discussion of both condition and procedure with the patient to ensure a good postoperative care. The article identifies the components of perioperative medical evaluation, discusses perioperative management of co-morbidities and the management of specific clinical problems related to RA, systemic lupus erythematosus, the management of DMARDs, like methotrexate (MTX) and biologic therapies, prophylactic antibiotics, and postoperative follow up, including patient education and rehabilitation PMID:24062860

  14. Learning disabilities in Darier's disease patients.

    Science.gov (United States)

    Dodiuk-Gad, R; Lerner, M; Breznitz, Z; Cohen-Barak, E; Ziv, M; Shani-Adir, A; Amichai, B; Zlotogorski, A; Shalev, S; Rozenman, D

    2014-03-01

    Neuropsychiatric features and intellectual difficulties have been reported in studies of Darier's disease. Learning disabilities have never been reported or evaluated systematically in these patients. To assess the prevalence of learning disabilities in 76 patients with Darier's disease, and cognitive functioning in 19 of them. The data were collected by two methods: a questionnaire, as part of a larger study on the clinical characteristics of 76 patients; and neuropsychological measures for the assessment of learning disabilities in 19 of them. Thirty-one of the 76 patients reported learning disabilities (41%) and 56 (74%) reported a family history of learning disabilities. Significant differences were found between the 19 patients evaluated on cognitive tasks and a control group of 42 skilled learners on subtraction and multiplication tasks. Six (32%) of the 19 were identified as having reading difficulties and five (26%) exhibited low performance on the Concentration Performance Test. All patients had general cognitive ability in the average range. Findings suggest an association between Darier's disease and learning disabilities, a heretofore unreported association, pointing to the need to obtain personal and family history of such disabilities in order to refer cases of clinical concern for further study. © 2013 The Authors Journal of the European Academy of Dermatology and Venereology © 2013 European Academy of Dermatology and Venereology.

  15. Interacting open Wilson lines from noncommutative field theories

    International Nuclear Information System (INIS)

    Kiem, Youngjai; Lee, Sangmin; Rey, Soo-Jong; Sato, Haru-Tada

    2002-01-01

    In noncommutative field theories, it is known that the one-loop effective action describes the propagation of noninteracting open Wilson lines, obeying the flying dipole's relation. We show that the two-loop effective action describes the cubic interaction among 'closed string' states created by open Wilson line operators. Taking d-dimensional λ[Φ 3 ] * theory as the simplest setup, we compute the nonplanar contribution at a low-energy and large noncommutativity limit. We find that the contribution is expressible in a remarkably simple cubic interaction involving scalar open Wilson lines only and nothing else. We show that the interaction is purely geometrical and noncommutative in nature, depending only on the size of each open Wilson line

  16. Uncovering the triple omeron vertex from Wilson line formalism

    International Nuclear Information System (INIS)

    Chirilli, G. A.; Szymanowski, L.; Wallon, S.

    2011-01-01

    We compute the triple omeron vertex from the Wilson line formalism, including both planar and nonplanar contributions, and get perfect agreement with the result obtained in the Extended Generalized Logarithmic Approximation based on Reggeon calculus.

  17. Mortality in patients with Parkinson's disease

    DEFF Research Database (Denmark)

    Wermuth, L; Stenager, E; Stenager, E

    1995-01-01

    INTRODUCTION: After the introduction of L-dopa the mortality rate in Parkinson's disease (PD) patients has changed, but is still higher than in the background population. MATERIAL & METHODS: Mortality, age at death and cause of death in a group of PD patients compared with the background population....... In the background population the median age at death was 80.69 years for men and 84.37 years for women. The SMR for men was 1.92 and for women 2.47. Infections, in particular lung infections, and heart diseases were the most common causes of death. Seventy percent of the death certificates had PD as a diagnosis....... CONCLUSION: It is likely that several factors can influence the changed mortality of PD: more effective treatment, changing diagnostic practice, and inter-disease competition....

  18. Chronic kidney disease in HIV patients

    Science.gov (United States)

    Bakri, S.; Rasyid, H.; Kasim, H.; Katu, S.

    2018-03-01

    Chronic kidney disease (CKD) is a health problem in human immunodeficiency virus (HIV) population. Prediction of CKD in HIV patients needsto have done. This study aimis to identify the prevalence of CKD in HIV patients.Thisis a cross-sectional studyofmale and female, age 18-60 years old, diagnosedHIVat Wahidin Sudirohusodo & Hasanuddin University Hospital Makassar. Diagnosed as CKD if estimated glomerular filtration rate (eGFR) HIV patients included in the analyses. Distribution of CKD, showed 3 (3.5%) subjects with eGFRHIV populations in Makassar is still quite low.

  19. [Stoma care in patients with malignant disease].

    Science.gov (United States)

    Egawa, Akiko; Suwa, Katsuhito

    2013-12-01

    The aim of stoma care and rehabilitation is improving the quality of life of the patient with a stoma. There are more than 1,700 stoma specialist nurses in Japan, eg, enterostomal therapists(ET)and wound, ostomy, and continence nurses(WOCN), who are involved in the care of patients with stomas. In this manuscript, we describe our role in the care of patients with temporary/permanent stomas created for emergency disease and/or palliative care, and the adverse effects of various current chemotherapies.

  20. Taking Charge: Walter Sydney Adams and the Mount Wilson Observatory

    Science.gov (United States)

    Brashear, R.

    2004-12-01

    The growing preeminence of American observational astronomy in the first half of the 20th century is a well-known story and much credit is given to George Ellery Hale and his skill as an observatory-building entrepreneur. But a key figure who has yet to be discussed in great detail is Walter Sydney Adams (1876-1956), Hale's Assistant Director at Mount Wilson Observatory. Due to Hale's illnesses, Adams was Acting Director for much of Hale's tenure, and he became the second Director of Mount Wilson from 1923 to 1946. Behind his New England reserve Adams was instrumental in the growth of Mount Wilson and thus American astronomy in general. Adams was hand-picked by Hale to take charge of stellar spectroscopy work at Yerkes and Mount Wilson and the younger astronomer showed tremendous loyalty to Hale and Hale's vision throughout his career. As Adams assumed the leadership role at Mount Wilson he concentrated on making the observatory a place where researchers worked with great freedom but maintain a high level of cooperation. This paper will concentrate on Adams's early years and look at his growing relationship with Hale and how he came to be the central figure in the early history of Mount Wilson as both a solar and stellar observatory. His education, his years at Dartmouth and Yerkes (including his unfortunate encounter with epsilon Leonis), and his formative years on Mount Wilson are all important in learning how he shaped the direction of Mount Wilson and the development of American astronomy in the first half of the 20th century. This latter history cannot be complete until we bring Adams into better focus.

  1. Towards a nonperturbative calculation of weak Hamiltonian Wilson coefficients

    Science.gov (United States)

    Bruno, Mattia; Lehner, Christoph; Soni, Amarjit; Rbc; Ukqcd Collaborations

    2018-04-01

    We propose a method to compute the Wilson coefficients of the weak effective Hamiltonian to all orders in the strong coupling constant using Lattice QCD simulations. We perform our calculations adopting an unphysically light weak boson mass of around 2 GeV. We demonstrate that systematic errors for the Wilson coefficients C1 and C2 , related to the current-current four-quark operators, can be controlled and present a path towards precise determinations in subsequent works.

  2. Monte Carlo calculation with unquenched Wilson-Fermions

    International Nuclear Information System (INIS)

    Montvay, I.

    1984-01-01

    A Monte Carlo updating procedure taking into account the virtual quark loops is described. It is based on high order hopping parameter expansion of the quark determinant for Wilson-fermions. In a first test run Wilson-loop expectation values are measured on 6 4 lattice at β=5.70 using 16sup(th) order hopping parameter expansion for the quark determinant. (orig.)

  3. Electrocardiographic Characteristics of Patients with Chronic Obstructive Pulmonary Disease

    NARCIS (Netherlands)

    Warnier, M.J.; Rutten, F.H.; Numans, M.E.; Kors, J.A.; Tan, H.L.; de Boer, A.; Hoes, A.W.; de Bruin, M.L.

    2013-01-01

    Patients with chronic obstructive pulmonary disease (COPD) are at increased risk of cardiovascular disease. Electrocardiography (ECG) carries information about cardiac disease and prognosis, but studies comparing ECG characteristics between patients with and without COPD are lacking. We related ECG

  4. Asymmetrical Pedaling Patterns in Parkinson's Disease Patients

    Science.gov (United States)

    Penko, Amanda L.; Hirsch, Joshua R.; Voelcker-Rehage, Claudia; Martin, Philip E.; Blackburn, Gordon; Alberts, Jay L.

    2015-01-01

    Background Approximately 1.5 million Americans are affected by Parkinson's disease [1] which includes the symptoms of postural instability and gait dysfunction. Currently, clinical evaluations of postural instability and gait dysfunction consist of a subjective rater assessment of gait patterns using items from the Unified Parkinson's Disease Rating Scale, and assessments can be insensitive to the effectiveness of medical interventions. Current research suggests the importance of cycling for Parkinson's disease patients, and while Parkinson's gait has been evaluated in previous studies, little is known about lower extremity control during cycling. The purpose of this study is to examine the lower extremity coordination patterns of Parkinson's patients during cycling. Methods Twenty five participants, ages 44-72, with a clinical diagnosis of idiopathic Parkinson's disease participated in an exercise test on a cycle ergometer that was equipped with pedal force measurements. Crank torque, crank angle and power produced by right and left leg were measured throughout the test to calculate Symmetry Index at three stages of exercise (20 Watt, 60 Watt, maximum performance). Findings Decreases in Symmetry Index were observed for average power output in Parkinson's patients as workload increased. Maximum power Symmetry Index showed a significant difference in symmetry between performance at both the 20 Watt and 60 Watt stage and the maximal resistance stage. Minimum power Symmetry Index did not show significant differences across the stages of the test. While lower extremity asymmetries were present in Parkinson's patients during pedaling, these asymmetries did not correlate to postural instability and gait dysfunction Unified Parkinson's Disease Rating Scale scores. Interpretation This pedaling analysis allows for a more sensitive measure of lower extremity function than the Unified Parkinson's Disease Rating Scale and may help to provide unique insight into current and

  5. Oral Hygiene in Patients with Parkinson's Disease.

    Science.gov (United States)

    Batista, Leonardo M; Portela de Oliveira, Millena Teles; Magalhaes, Wilrama B; Bastos, Poliana Lima

    2015-11-02

    Parkinson's disease is a chronic progressive neurodegenerative disorder with a multifactorial etiology. The symptoms are characterized by motor disorders - tremor, rigidity, bradykinesia and postural instability, which hinder oral hygiene. Oral and dental health in Parkinson's disease has been under-documented and findings are conflicting. Moreover, a number of dentists have limited experience regarding the management of these patients. This article reviews literature published within the last fifteen years, to better understand the impact of this disease in oral health. A literature search (MEDLINE and PUBMED), using keywords Parkinson Disease and Oral Hygiene, yielded 27 articles, from which 20 were selected. All of the articles were published in English in the last 15 years.

  6. Chirally improving Wilson fermions I. O(a) improvement

    International Nuclear Information System (INIS)

    Frezzotti, R.; Rossi, G.C.

    2004-01-01

    We show that it is possible to improve the chiral behaviour and the approach to the continuum limit of correlation functions in lattice QCD with Wilson fermions by taking arithmetic averages of correlators computed in theories regularized with Wilson terms of opposite sign. Improved hadronic masses and matrix elements can be obtained by similarly averaging the corresponding physical quantities separately computed within the two regularizations. To deal with the problems related to the spectrum of the Wilson-Dirac operator, which are particularly worrisome when Wilson and mass terms are such as to give contributions of opposite sign to the real part of the eigenvalues, we propose to use twisted-mass lattice QCD for the actual computation of the quantities taking part to the averages. The choice ±π/2 for the twisting angle is particularly interesting, as O(a) improved estimates of physical quantities can be obtained even without averaging data from lattice formulations with opposite Wilson terms. In all cases little or no extra computing power is necessary, compared to simulations with standard Wilson fermions or twisted-mass lattice QCD. (author)

  7. Baryon Wilson loop area law in QCD

    International Nuclear Information System (INIS)

    Cornwall, J.M.

    1996-01-01

    There is still confusion about the correct form of the area law for the baryonic Wilson loop (BWL) of QCD. Strong-coupling (i.e., finite lattice spacing in lattice gauge theory) approximations suggest the form exp[-KA Y ], where K is the q bar q string tension and A Y is the global minimum area, generically a three-bladed area with the blades joined along a Steiner line (Y configuration). However, the correct answer is exp[-(K/2)(A 12 +A 13 +A 23 )], where, e.g., A 12 is the minimal area between quark lines 1 and 2 (Δ configuration). This second answer was given long ago, based on certain approximations, and is also strongly favored in lattice computations. In the present work, we derive the Δ law from the usual vortex-monopole picture of confinement, and show that, in any case, because of the 1/2 in the Δ law, this law leads to a larger value for the BWL (smaller exponent) than does the Y law. We show that the three-bladed, strong-coupling surfaces, which are infinitesimally thick in the limit of zero lattice spacing, survive as surfaces to be used in the non-Abelian Stokes close-quote theorem for the BWL, which we derive, and lead via this Stokes close-quote theorem to the correct Δ law. Finally, we extend these considerations, including perturbative contributions, to gauge groups SU(N), with N>3. copyright 1996 The American Physical Society

  8. Nonmotor symptoms in patients with Parkinson disease

    Science.gov (United States)

    Zhang, Tie-mei; Yu, Shu-yang; Guo, Peng; Du, Yang; Hu, Yang; Piao, Ying-shan; Zuo, Li-jun; Lian, Teng-hong; Wang, Rui-dan; Yu, Qiu-jin; Jin, Zhao; Zhang, Wei

    2016-01-01

    Abstract Parkinson disease (PD) is usually accompanied by numerous nonmotor symptoms (NMS), such as neuropsychiatric symptoms, sleep disorders, autonomic dysfunctions, and sensory disturbances. However, it is not clear that the factors influencing the occurrence of NMS and its sequence with motor symptoms (MS). We conducted comprehensive assessments of NMS by using 13 scales in 1119 PD patients. A total of 70.8% PD patients present NMS. Olfactory dysfunction tends to occur in PD patients with older age, more severe depression, sleep problems, and autonomic dysfunctions. Older patients are more likely to have olfactory dysfunction before MS than younger patients. Rapid eye movement behavior disorder is more prone to happen in patients with older age, older onset age, more severe depression, sleep problems, and autonomic dysfunctions. Patients with rapid eye movement behavior disorder before MS are older in onset age than after group. Olfactory dysfunction, constipation, rapid eye movement behavior disorder, and depression, as early warning NMSs of PD, connected to each other. There is a clinical heterogeneity that older patients are more likely to have NMS before MS, while younger patients are opposite. PMID:27977578

  9. Articular manifestations in patients with Lyme disease.

    Science.gov (United States)

    Vázquez-López, María Esther; Díez-Morrondo, Carolina; Sánchez-Andrade, Amalia; Pego-Reigosa, Robustiano; Díaz, Pablo; Castro-Gago, Manuel

    To determine the percentage of Lyme patients with articular manifestations in NW Spain and to know their evolution and response to treatment. A retrospective study (2006-2013) was performed using medical histories of confirmed cases of Lyme disease showing articular manifestations. Clinical and laboratory characteristics, together with the treatment and evolution of the patients, were analysed. Seventeen out of 108 LD confirmed patients (15.7%) showed articular manifestations. Regarding those 17 patients, 64.7%, 29.4% and 5.9% presented arthritis, arthralgia and bursitis, respectively. The knee was the most affected joint. Articular manifestations were often associated to neurological, dermatological and cardiac pathologies. Otherwise, most patients were in Stage III. The 11.8% of the cases progressed to a recurrent chronic arthritis despite the administration of an appropriate treatment. Lyme disease patients showing articular manifestations should be included in the diagnosis of articular affections in areas of high risk of hard tick bite, in order to establish a suitable and early treatment and to avoid sequels. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  10. Heart failure in patients with kidney disease.

    Science.gov (United States)

    Tuegel, Courtney; Bansal, Nisha

    2017-12-01

    Heart failure (HF) is a leading cause of morbidity and mortality in patients with chronic kidney disease (CKD), and the population of CKD patients with concurrent HF continues to grow. The accurate diagnosis of HF is challenging in patients with CKD in part due to a lack of validated imaging and biomarkers specifically in this population. The pathophysiology between the heart and the kidneys is complex and bidirectional. Patients with CKD have greater prevalence of traditional HF risk factors as well as unique kidney-specific risk factors including malnutrition, acid-base alterations, uraemic toxins, bone mineral changes, anemia and myocardial stunning. These risk factors also contribute to the decline of kidney function seen in patients with subclinical and clinical HF. More targeted HF therapies may improve outcomes in patients with kidney disease as current HF therapies are underutilised in this population. Further work is also needed to develop novel HF therapies for the CKD population. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  11. [Anesthesia for patients with neurological diseases].

    Science.gov (United States)

    Kimura, Masafumi; Saito, Shigeru

    2010-09-01

    Several surgical treatments can be employed for the patients with neurological disorders, such as multiple sclerosis, Guillain-Barré syndrome, Parkinson's disease, amyotrophic lateral sclerosis, Alzheimer disease and spinal cord injury. It is possible that anesthesia related complications are induced in these neurologically complicated patients in the perioperative period. Respiratory dysfunction and autonomic nervous system dysfunction are most common in this population. Respiratory muscle weakness and bulbar palsy may cause aspiration pneumonia. Sometimes, postoperative ventilatory support is mandatory in these patients. Autonomic nervous system dysfunction may cause hypotension secondary to postural changes, blood loss, or positive airway pressure. Some therapeutic agents prescribed for neurological symptoms have drug interaction with anesthetic agents. Patients with motor neuron disease should be considered to be vulnerable to hyperkalemia in response to a depolarizing muscle relaxant. Although perioperative treatment guideline for most neurologic disorders has not been reported to lessen perioperative morbidity, knowledge of the clinical features and the interaction of common anesthetics with the drug therapy is important in planning intraoperative and postoperative management.

  12. Hyperintense basal ganglia lesions on T1-weighted MR images in asymptomatic patients with hepatic dysfunction

    Energy Technology Data Exchange (ETDEWEB)

    Saatci, I. [Dept. of Radiology, Hacettepe Univ. Hospital, Ankara (Turkey); Cila, A. [Dept. of Radiology, Hacettepe Univ. Hospital, Ankara (Turkey); Dincer, F.F. [Dept. of Radiology, Hacettepe Univ. Hospital, Ankara (Turkey)

    1995-12-31

    Cranial MRI findings in four patients who had hepatic dysfunction, including one with sole hepatic form of Wilson`s disease, were reported. The MR examinations revealed bilateral, symmetric hyperintensity in the globus pallidus, subthalamic nuclei and mesencephalon on T1-weighted images with no corresponding abnormality on T2-weighted sequences. The basal ganglia were normal on CT examinations in all patients. None of the patients had the clinical findings of hepatic encephalopathy. The MR findings in our patients did not correlate with the degree or duration of hepatic dysfunction. (orig.)

  13. [NSAID GASTROPATHY IN PATIENTS WITH COMORBID DISEASES].

    Science.gov (United States)

    Morozova, T E; Rykova, S M; Chukina, M A

    2015-01-01

    The widespread use in clinical practice of non-steroidal anti-inflammatory drugs (NSAIDs), largely due to the general trend towards an aging population and, as a consequence, increase the number of individuals with comorbid conditions and diseases, including the most common are diseases of the cardiovascular system, diseases of the joints and spine, requiring of therapy with, combining the anti-inflammatory and analgesic properties. However, NSAIDs not only have favorable effects, but have quite a wide range of adverse effects, an important place among which is NSAID-induced gastropathy. The article deals with the rational choice of NSAIDs in patients depending on the degree of cardiovascular risk and gastrointenstinalnogo, as well as the possibility of preventing NSAID-associated gastropathy. Particular attention is paid to the choice of individual NSAIDs with regard to their pharmacological properties.

  14. Spiritual Needs of Patients with Chronic Diseases

    Directory of Open Access Journals (Sweden)

    Harold G. Koenig

    2010-11-01

    Full Text Available For many patients confronted with chronic diseases, spirituality/religiosity is an important resource for coping. Patients often report unmet spiritual and existential needs, and spiritual support is also associated with better quality of life. Caring for spiritual, existential and psychosocial needs is not only relevant to patients at the end of their life but also to those suffering from long-term chronic illnesses. Spiritual needs may not always be associated with life satisfaction, but sometimes with anxiety, and can be interpreted as the patients’ longing for spiritual well-being. The needs for peace, health and social support are universal human needs and are of special importance to patients with long lasting courses of disease. The factor, Actively Giving, may be of particular importance because it can be interpreted as patients’ intention to leave the role of a `passive sufferer´ to become an active, self-actualizing, giving individual. One can identify four core dimensions of spiritual needs, i.e., Connection, Peace, Meaning/Purpose, and Transcendence, which can be attributed to underlying psychosocial, emotional, existential, and religious needs. The proposed model can provide a conceptual framework for further research and clinical practice. In fact, health care that addresses patients’ physical, emotional, social, existential and spiritual needs (referring to a bio-psychosocial-spiritual model of health care will contribute to patients’ improvement and recovery. Nevertheless, there are several barriers in the health care system that makes it difficult to adequately address these needs.

  15. Obituary: Andrew Stephen Wilson, 1947-2008

    Science.gov (United States)

    Veilleux, Sylvain

    2009-01-01

    On 24 May 2008, Andrew Stephen Wilson passed away at the age of 61, in his home in Silver Spring, Maryland, from complications resulting from a painful spinal illness. Andrew was arguably one of the first truly multi-wavelength astronomers of his generation. His scientific work on active galactic nuclei [AGN] spanned the entire electromagnetic spectrum from the radio to the X-rays. Andrew was born in Doncaster, Yorkshire, England, on 26 March 1947. He was the younger of two brothers whose births were separated by the Second World War. His father, Norman, came from a relatively affluent family who were coal merchants. His mother, Mary, came from a less comfortable background, one of seven children, daughter of a skilled cabinet maker/French polisher, who went through a very hard time during the depression. As a teacher, she placed enormous value on hard work and education as a way of gaining advancement in life. When Andrew was four, the family moved to Skipton, a nice market town in the Yorkshire dales. Andrew went to a small village school until age eleven when he entered Ermysted's Grammar School. He was an enthusiastic soccer and cricket player. He never lost his enthusiasm for soccer and supported the local soccer team, Leeds United, for all his life. Andrew also followed the Yorkshire county cricket team. Andrew's interest in astronomy stemmed from the fact that at Ermysted's Grammar School someone donated a four-inch refracting telescope, so he and his friends used to go back in the evenings to investigate the rings of Saturn, the moons of Jupiter, and various nebulae. While an undergraduate at Cambridge, Andrew joined the astronomy club and ground an 8-inch mirror by hand as a part of a telescope that he set up in the backyard of his parents' house. Andrew spent hours observing with this telescope, and it was the wonder of the family. At Cambridge, Andrew obtained his bachelor's degree with first-class honors in 1969. During a short visit in London with his

  16. Detection of arousals in Parkinson's disease patients

    DEFF Research Database (Denmark)

    Sørensen, Gertrud Laura; Kempfner, Jacob; Jennum, Poul

    2011-01-01

    sleepiness. Manual scoring of arousals is time-consuming and the inter-score agreement is highly varying especially for patients with sleep related disorders. The aim of this study was to design an arousal detection algorithm capable of detecting arousals from sleep, in both non-REM and REM sleep in patients......Arousal from sleep are short awakenings, which can be identified in the EEG as an abrupt change in frequency. Arousals can occur in all sleep stages and the number and frequency increase with age. Frequent arousals during sleep results in sleep fragmentation and is associated with daytime...... suffering from Parkinson's disease (PD). The proposed algorithm uses features from EEG, EMG and the manual sleep stage scoring as input to a feed-forward artificial neural network (ANN). The performance of the algorithm has been assessed using polysomnographic (PSG) recordings from a total of 8 patients...

  17. [Psychopharmacotherapy in patients with cardiovascular diseases].

    Science.gov (United States)

    Cordes, J; Lange-Asschenfeldt, C; Hiemke, C; Kahl, K G

    2012-11-01

    Increased cardiometabolic morbidity and increased overall mortality has been observed in patients with severe mental disorders. Therefore, cardiometabolic safety is an important issue in the treatment of patients with psychiatric disorders, in particular in patients with comorbid cardiometabolic diseases. Frequent adverse side effects include disturbances of lipid and glucose metabolism, body weight changes and alterations of the QTc interval. Dependent on the particular substance used and on factors concerning individual vulnerability, these side effects vary in relative frequency. Therefore, regular monitoring is recommended including ECG. Furthermore, interactions between different medicaments may occur, either leading to enhanced or decreased drug concentrations. Prior to psychopharmacological treatment, proper cardiological treatment is recommended. The management of cardiovascular risks under psychopharmacology requires interdisciplinary cooperation between the cardiologist, general practitioner and psychiatrist.

  18. Two-loop polygon Wilson loops in N = 4 SYM

    International Nuclear Information System (INIS)

    Anastasiou, C.; Brandhuber, A.; Heslop, P.; Spence, B.; Travaglini, G.; Khoze, V.V.

    2009-01-01

    We compute for the first time the two-loop corrections to arbitrary n-gon lightlike Wilson loops in N = 4 supersymmetric Yang-Mills theory, using efficient numerical methods. The calculation is motivated by the remarkable agreement between the finite part of planar six-point MHV amplitudes and hexagon Wilson loops which has been observed at two loops. At n = 6 we confirm that the ABDK/BDS ansatz must be corrected by adding a remainder function, which depends only on conformally invariant ratios of kinematic variables. We numerically compute remainder functions for n = 7,8 and verify dual conformal invariance. Furthermore, we study simple and multiple collinear limits of the Wilson loop remainder functions and demonstrate that they have precisely the form required by the collinear factorisation of the corresponding two-loop n-point amplitudes. The number of distinct diagram topologies contributing to the n-gon Wilson loops does not increase with n, and there is a fixed number of 'master integrals', which we have computed. Thus we have essentially computed general polygon Wilson loops, and if the correspondence with amplitudes continues to hold, all planar n-point two-loop MHV amplitudes in the N = 4 theory.

  19. Auditory Dysfunction in Patients with Cerebrovascular Disease

    Directory of Open Access Journals (Sweden)

    Sadaharu Tabuchi

    2014-01-01

    Full Text Available Auditory dysfunction is a common clinical symptom that can induce profound effects on the quality of life of those affected. Cerebrovascular disease (CVD is the most prevalent neurological disorder today, but it has generally been considered a rare cause of auditory dysfunction. However, a substantial proportion of patients with stroke might have auditory dysfunction that has been underestimated due to difficulties with evaluation. The present study reviews relationships between auditory dysfunction and types of CVD including cerebral infarction, intracerebral hemorrhage, subarachnoid hemorrhage, cerebrovascular malformation, moyamoya disease, and superficial siderosis. Recent advances in the etiology, anatomy, and strategies to diagnose and treat these conditions are described. The numbers of patients with CVD accompanied by auditory dysfunction will increase as the population ages. Cerebrovascular diseases often include the auditory system, resulting in various types of auditory dysfunctions, such as unilateral or bilateral deafness, cortical deafness, pure word deafness, auditory agnosia, and auditory hallucinations, some of which are subtle and can only be detected by precise psychoacoustic and electrophysiological testing. The contribution of CVD to auditory dysfunction needs to be understood because CVD can be fatal if overlooked.

  20. Caring for Patients With Intractable Neurological Diseases

    Directory of Open Access Journals (Sweden)

    Masako Nagase

    2014-08-01

    Full Text Available This is a qualitative descriptive study examining nurses’ attitudes about caring for patients with intractable neurological diseases, with a focus on dedication and conflicts. Semistructured interviews were conducted on 11 nurses with more than 5 years of clinical experience in addition to more than 3 years of experience in neurology wards. Senior nursing officers from each hospital selected the participants. In general, these nurses expressed distress over the inevitable progression of disease. Nurses talked about the “basis of dedication,” “conflicts with dedication,” “reorganization for maintaining dedication,” and “the reason for the change from conflict to commitment.” “Reorganization for maintaining dedication” meant that nurses were able to handle the prospect of rededicating themselves to their patients. Furthermore, “the reason for the change from conflict to commitment” referred to events that changed nurses’ outlooks on nursing care, their pride as nurses, or their learning experiences. They felt dedicated and conflicted both simultaneously and separately. While committing to their patients’ physical care, nurses were empowered to think positively and treat patients with dignity in spite of the care taking much time and effort, as well as entailing considerable risk.

  1. Wilson loop's phase transition probed by non-local observable

    Directory of Open Access Journals (Sweden)

    Hui-Ling Li

    2018-04-01

    Full Text Available In order to give further insights into the holographic Van der Waals phase transition, it would be of great interest to investigate the behavior of Wilson loop across the holographic phase transition for a higher dimensional hairy black hole. We offer a possibility to proceed with a numerical calculation in order to discussion on the hairy black hole's phase transition, and show that Wilson loop can serve as a probe to detect a phase structure of the black hole. Furthermore, for a first order phase transition, we calculate numerically the Maxwell's equal area construction; and for a second order phase transition, we also study the critical exponent in order to characterize the Wilson loop's phase transition.

  2. Solar rotation measurements at Mount Wilson. Pt. 2

    International Nuclear Information System (INIS)

    Labonte, B.J.; Howard, R.; Carnegie Institution of Washington, Pasadena

    1981-01-01

    Possible sources of systematic error in solar Doppler rotational velocities are examined. Scattered light is shown to affect the Mount Wilson solar rotation results, but this effect is not enough to bring the spectroscopic results in coincidence with the sunspot rotation. Interference fringes at the spectrograph focus at Mount Wilson have in two intervals affected the rotation results. It has been possible to correlate this error with temperature and thus correct for it. A misalignment between the entrance and exit slits is a possible source of error, but for the Mount Wilson slit configuration the amplitude of this effect is negligibly small. Rapid scanning of the solar image also produces no measurable effect. (orig.)

  3. Conformal blocks from Wilson lines with loop corrections

    Science.gov (United States)

    Hikida, Yasuaki; Uetoko, Takahiro

    2018-04-01

    We compute the conformal blocks of the Virasoro minimal model or its WN extension with large central charge from Wilson line networks in a Chern-Simons theory including loop corrections. In our previous work, we offered a prescription to regularize divergences from loops attached to Wilson lines. In this paper, we generalize our method with the prescription by dealing with more general operators for N =3 and apply it to the identity W3 block. We further compute general light-light blocks and heavy-light correlators for N =2 with the Wilson line method and compare the results with known ones obtained using a different prescription. We briefly discuss general W3 blocks.

  4. Sexual Health Concerns in Patients with Cardiovascular Disease

    Science.gov (United States)

    ... Patient Page Sexual Health Concerns in Patients With Cardiovascular Disease Lindsey Rosman , John M. Cahill , Susan L. McCammon , ... and difficulty achieving and maintaining an erection. 2 Cardiovascular disease and its treatment may also affect a man’s ...

  5. Olfactory training in patients with Parkinson's disease.

    Directory of Open Access Journals (Sweden)

    Antje Haehner

    Full Text Available OBJECTIVE: Decrease of olfactory function in Parkinson's disease (PD is a well-investigated fact. Studies indicate that pharmacological treatment of PD fails to restore olfactory function in PD patients. The aim of this investigation was whether patients with PD would benefit from "training" with odors in terms of an improvement of their general olfactory function. It has been hypothesized that olfactory training should produce both an improved sensitivity towards the odors used in the training process and an overall increase of olfactory function. METHODS: We recruited 70 subjects with PD and olfactory loss into this single-center, prospective, controlled non-blinded study. Thirty-five patients were assigned to the olfactory training group and 35 subjects to the control group (no training. Olfactory training was performed over a period of 12 weeks while patients exposed themselves twice daily to four odors (phenyl ethyl alcohol: rose, eucalyptol: eucalyptus, citronellal: lemon, and eugenol: cloves. Olfactory testing was performed before and after training using the "Sniffin' Sticks" (thresholds for phenyl ethyl alcohol, tests for odor discrimination, and odor identification in addition to threshold tests for the odors used in the training process. RESULTS: Compared to baseline, trained PD patients experienced a significant increase in their olfactory function, which was observed for the Sniffin' Sticks test score and for thresholds for the odors used in the training process. Olfactory function was unchanged in PD patients who did not perform olfactory training. CONCLUSION: The present results indicate that olfactory training may increase olfactory sensitivity in PD patients.

  6. Notes on winter feeding behavior and molt in Wilson's phalaropes

    Science.gov (United States)

    Burger, J.; Howe, M.

    1975-01-01

    Wilson's Phalaropes, Steganopus tricolor, migrate in late summer from the prairie regions of North America to their wintering grounds in the highlands of Peru and the inland and coastal waters of Chile, Bolivia, Paraguay, Uruguay, and Argentina (Holmes 1939, Meyer de Schauensee 1970). Reports on these birds from their wintering habitat are few. This paper describes numbers, feeding behavior, and molt of Wilson's Phalaropes wintering in a freshwater marsh in central Argentina. Fieldwork in Argentina was conducted by the senior author. The junior author analyzed molt patterns of birds collected there and added data he collected in North Dakota in 1968 and 1969.

  7. Topological susceptibility in lattice QCD with unimproved Wilson fermions

    International Nuclear Information System (INIS)

    Chowdhury, Abhishek; De, Asit K.; De Sarkar, Sangita; Harindranath, A.; Mondal, Santanu; Sarkar, Anwesa; Maiti, Jyotirmoy

    2012-01-01

    We address a long standing problem regarding topology in lattice simulations of QCD with unimproved Wilson fermions. Earlier attempt with unimproved Wilson fermions at β=5.6 to verify the suppression of topological susceptibility with decreasing quark mass (m q ) was unable to unambiguously confirm the suppression. We carry out systematic calculations for two degenerate flavours at two different lattice spacings (β=5.6 and 5.8). The effects of quark mass, lattice volume and the lattice spacing on the spanning of different topological sectors are presented. We unambiguously demonstrate the suppression of the topological susceptibility with decreasing quark mass, expected from chiral Ward identity and chiral perturbation theory.

  8. Mowat-Wilson-syndrom hos tre danske børn

    DEFF Research Database (Denmark)

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

    2011-01-01

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

  9. Famous Stone Patients and Their Disease

    Science.gov (United States)

    Moran, Michael E.

    2007-04-01

    The fact that stone patients have endured much throughout the ages and that prior to our current era, when the ultimate horror, "being cut for the stone" was the only alternative to the repeated episodes of colic, should be recalled from time to time. Urolithiasis has affected humanity throughout the ages and has been indiscriminate to those lives it touched. A full accounting of those who have suffered and recorded their agonies is beyond the scope of this investigation; however, even a partial accounting is valuable for present day physicians who care for those with stone disease. For the present work, the historical accounts of stone disease literature were scrutinized for individual sufferers who could be cross-referenced from other sources as legitimately afflicted by stones. Only those patients that could be documented and were (or are) well known were included, because the internet is now a verdant repository of thousands of "not so well knowns." Reliable historical data was found for a variety of persons from the pre-Christian era to the present, including those remembered as philosophers and scientists, physicians, clergy, leaders and rulers, entertainers, athletes and fictitious/Hollywood-type individuals. Verified accounts of famous stone formers were chosen for this paper, and are presented in chronological order. The list of urolithiasis sufferers presented here is undoubtedly incomplete, but it is not through lack of trying that they are missing. Most often, the suffering do so silently, and that is always allowed.

  10. [Two patients with mitochondrial respiratory chain disease].

    Science.gov (United States)

    Bangma, H R; Smit, G P A; Kuks, J B M; Grevink, R G; Wolffenbuttel, B H R

    2008-10-18

    A 23-year-old woman and a 13-year-old boy were diagnosed with mitochondrial respiratory chain disease. The woman had muscle pain, fatigue and bilateral ophthalmoplegia--symptoms consistent with Kearns-Sayre syndrome. The boy had aspecific symptoms; eventually, reduced activity of complex 1 was found to be the cause of the mitochondrial respiratory chain disease in the boy and his mother, who had suffered from unexplained fatigue and muscle pain for 15 years. Mitochondrial diseases often involve several organ systems. Diagnosis can be difficult, because laboratory tests such as serum and urinary lactate and creatine kinase have low sensitivity and specificity. Biochemical assessment of muscle biopsy can reveal reduced oxidation ATP synthesis and sometimes specific abnormalities in individual protein complexes. DNA analysis may be helpful in demonstrating mitochondrial or nuclear mutations or deletions. The goal of treatment is to increase mitochondrial ATP production, improve clinical symptoms and enhance stamina. Replacement of the following substances (also referred to as cofactors) may be attempted: co-enzyme Q10, antioxidants (lipoic acid, vitamins C and E), riboflavin, thiamine, creatine and carnitine. Evidence regarding the optimal treatment approach is lacking; one usually has to rely on observing effects in the individual patient.

  11. Correlation of thrombocytopenia with grading of esophageal varices in chronic liver disease patients

    International Nuclear Information System (INIS)

    Abbasi, A.; Butt, N.; Bhutto, A.R.; Munir, S.M.

    2010-01-01

    To determine the severity of thrombocytopenia in different grades of esophageal varices. Study Design: Cross-sectional analytical study. Place and Duration of Study: Jinnah Postgraduate Medical Centre, Karachi, Medical Unit-III, Ward-7 from January to December 2008. Methodology: Subjects were eligible if they had a diagnosis of cirrhosis. Patient with advanced cirrhosis (Child-Pugh class C), human immunodeficiency virus (HIV) infection, hepatocellular carcinoma, portal vein thrombosis, parenteral drug addiction, current alcohol abuse and previous or current treatment with b-blockers, diuretics and other vasoactive drugs were excluded from the study. All patients under went upper gastrointestinal endoscopy after consent. On the basis of platelet count patients were divided into four groups. Group I with platelets greater or equal to 20000/mm/sup 3/, Group II with values of 21000- 50000/mm/sup 3/, Group III with count of 51000-99000/mm/sup 3/ and Group IV with count of 100000-150000/mm/sup 3/. Correlation of severity of thrombocytopenia with the grading of esophageal varices was assessed using Spearman's correlation with r-values of 0.01 considered significant. Results: One hundred and two patients with thrombocytopenia and esophageal varices were included in the study. There were 62 (60.8%) males and 40 (39.2%) females. The mean age of onset of the disease in these patients was 49.49 +- 14.3 years with range of 11-85 years. Major causes of cirrhosis were hepatitis C (n=79, 77.5%), hepatitis B (n=12, 11.8%), mixed hepatitis B and C infection (n=8, 7.8%) and Wilson's disease (n=3,2.9%). Seven patients had esophageal grade I, 24 had grade II, 35 had grade III, and 36 had grade IV. Gastric varices were detected in 2 patients. Portal hypertensive gastropathy were detected in 87 patients. There was an inverse correlation of platelet count with grading of esophageal varices (r=-0.321, p < 0.001). Conclusion: The severity of thrombocytopenia increased as the grading of

  12. Survival of Alzheimer's disease patients in Korea.

    Science.gov (United States)

    Go, Seok Min; Lee, Kang Soo; Seo, Sang Won; Chin, Juhee; Kang, Sue J; Moon, So Young; Na, Duk L; Cheong, Hae-Kwan

    2013-01-01

    The natural history of Alzheimer's disease (AD) has rarely been studied in the Korean population. Our study on survival analyses in Korean AD patients potentially provides a basis for cross-cultural comparisons. We studied 724 consecutive patients from a memory disorder clinic in a tertiary hospital in Seoul, who were diagnosed as having AD between April 1995 and December 2005. Deaths were identified by the Statistics Korea database. The Kaplan-Meier method was used for survival analysis, and a Cox proportional hazard model was used to assess factors related to patient survival. The overall median survival from the onset of first symptoms and from the time of diagnosis was 12.6 years (95% confidence interval 11.7-13.4) and 9.3 years (95% confidence interval 8.7-9.9), respectively. The age of onset, male gender, history of diabetes mellitus, lower Mini-Mental State Examination score, and higher Clinical Dementia Rating score were negatively associated with survival. There was a reversal of risk of AD between early-onset and later-onset AD, 9.1 years after onset. The results of our study show a different pattern of survival compared to those studies carried out with western AD populations. Mortality risk of early-onset AD varied depending on the duration of follow-up. Copyright © 2013 S. Karger AG, Basel.

  13. Radiologic study of 42 cases of Wilson disease

    International Nuclear Information System (INIS)

    Xie, Y.; Zhang, X.; Xu, X.; Zhang, Z.; Feng, Y.

    1985-01-01

    This paper reports 42 cases of bone and joint radiographic changes in hepatolenticular degeneration. The cases were proven clinically by opthalmologic and laboratory study, and their radiographic and joint changes were divided into five groups: no abnormal findings, osteoporosis, osteomalacia (rickets), distinct changes, and miscellaneous. Distinct changes include marginal bone fragments, angulation of carpal bones, squaring of metacarpal heads, and calcification of the joint capsule or tendon insertion. The mechanism causing the bone changes in heptolenticular degeneration is also discussed. (orig.)

  14. Radiologic study of 42 cases of Wilson disease

    Energy Technology Data Exchange (ETDEWEB)

    Xie, Y.; Zhang, X.; Xu, X.; Zhang, Z.; Feng, Y.

    1985-02-01

    This paper reports 42 cases of bone and joint radiographic changes in hepatolenticular degeneration. The cases were proven clinically by opthalmologic and laboratory study, and their radiographic and joint changes were divided into five groups: no abnormal findings, osteoporosis, osteomalacia (rickets), distinct changes, and miscellaneous. Distinct changes include marginal bone fragments, angulation of carpal bones, squaring of metacarpal heads, and calcification of the joint capsule or tendon insertion. The mechanism causing the bone changes in heptolenticular degeneration is also discussed.

  15. Transformation of a Free-Wilson matrix into Fourier coefficients

    Czech Academy of Sciences Publication Activity Database

    Holík, M.; Halámek, Josef

    2002-01-01

    Roč. 20, - (2002), s. 422 - 428 ISSN 0931-8771 Institutional research plan: CEZ:AV0Z2065902 Keywords : Free-Wilson matrix * Fourier transform * multivariate regression Subject RIV: JA - Electronics ; Optoelectronics, Electrical Engineering Impact factor: 1.558, year: 2002

  16. Wilson loops en la correspondencia AdS/CFT

    OpenAIRE

    Aguilera Damia, Jeremías

    2017-01-01

    Esta tesis está abocada al estudio de operadores no locales e invariantes de gauge, denominados Wilson loops, tanto a través de técnicas propias de teoría de cuerdas como por medio de técnicas avanzadas en teorías de gauge.

  17. BOOK REVIEW: Democracy and Political Life in Nigeria | Wilson ...

    African Journals Online (AJOL)

    In this review of Victor Dike's book - \\"Democracy and Political Life in Nigeria\\", Inam Wilson underscores the author's attempts to draw a connection between Nigeria's chequered political history and her present economic trajectory to explain why Nigeria is today facing numerous sociopolitical and economic challenges, ...

  18. Nambu-Jona-Lasinio model with Wilson fermions

    DEFF Research Database (Denmark)

    Rantaharju, Jarno; Drach, Vincent; Pica, Claudio

    2017-01-01

    We present a lattice study of a Nambu-Jona-Lasinio (NJL) model using Wilson fermions. Four-fermion interactions are a natural part of several extensions of the Standard Model, appearing as a low-energy description of a more fundamental theory. In models of dynamical electroweak symmetry breaking...

  19. Lifebox | Wilson | Southern African Journal of Anaesthesia and ...

    African Journals Online (AJOL)

    Southern African Journal of Anaesthesia and Analgesia. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 18, No 1 (2012) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Lifebox. IH Wilson. Abstract.

  20. Tuning up an oldtimer: hybrid Monte Carlo with Wilson fermions

    International Nuclear Information System (INIS)

    Schilling, K.; Hannemann, V.; Lippert, T.; Noeckel, B.

    1995-01-01

    We show that BiCGStab inversion algorithm helps to speed up by 50% the computation of the fermionic force inside the Hybrid Monte Carlo (HMC) simulation of full QCD with Wilson fermions, in the chiral regime of small quark masses. ((orig.))

  1. Values in Higher Education. The Wilson Lecture Series.

    Science.gov (United States)

    Wilson, O. Meredith

    The text of a lecture in the University of Arizona Wilson Lecture Series on values in higher education is presented, with responses by Richard H. Gallagher, Jeanne McRae McCarthy, and Raymond H. Thompson. The theme of the talk is that man is by evolution and by necessity a thinking animal, who now finds himself in a technologically dependent…

  2. Multivariable biorthogonal continuous--discrete Wilson and Racah polynomials

    International Nuclear Information System (INIS)

    Tratnik, M.V.

    1990-01-01

    Several families of multivariable, biorthogonal, partly continuous and partly discrete, Wilson polynomials are presented. These yield limit cases that are purely continuous in some of the variables and purely discrete in the others, or purely discrete in all the variables. The latter are referred to as the multivariable biorthogonal Racah polynomials. Interesting further limit cases include the multivariable biorthogonal Hahn and dual Hahn polynomials

  3. INTESTINAL PERMEABILITY IN PATIENTS WITH CELIAC-DISEASE AND RELATIVES OF PATIENTS WITH CELIAC-DISEASE

    NARCIS (Netherlands)

    van Elburg, R. M.; Uil, J. J.; Mulder, C. J.; Heymans, H. S.

    1993-01-01

    The functional integrity of the small bowel is impaired in coeliac disease. Intestinal permeability, as measured by the sugar absorption test probably reflects this phenomenon. In the sugar absorption test a solution of lactulose and mannitol was given to the fasting patient and the

  4. INTESTINAL PERMEABILITY IN PATIENTS WITH CELIAC-DISEASE AND RELATIVES OF PATIENTS WITH CELIAC-DISEASE

    NARCIS (Netherlands)

    VANELBURG, RM; UIL, JJ; MULDER, CJJ; HEYMANS, HSA

    The functional integrity of the small bowel is impaired in coeliac disease. Intestinal permeability, as measured by the sugar absorption test probably reflects this phenomenon. In the sugar absorption test a solution of lactulose and mannitol was given to the fasting patient and the

  5. Near patient cholesterol testing in patients with peripheral arterial disease.

    Science.gov (United States)

    Hobbs, S D; Jones, A; Wilmink, A B; Bradbury, A W

    2003-09-01

    To assess the bias, precision and utility of the Bioscanner 2000 for near patient testing of total cholesterol (NPTC) in patients with peripheral arterial disease (PAD). One hundred consecutive patients attending a hospital-based clinic with symptomatic PAD underwent non-fasting NPTC using finger prick blood sample and a laboratory total cholesterol (TC) using blood drawn from an antecubital fossa vein. The Bioscanner 2000 showed good precision with a coefficient of variation of 1.8-3.8%. NPTC was significantly lower than laboratory TC (mean (S.D.) 4.67 (1.1) vs. 5.12 (1.2) mmol/l), p Bioscanner 2000 compared to laboratory testing, which was demonstrated to be a systematic bias using a Bland-Altman plot. Almost half (46%) of the readings differed by > 0.5 mmol/l, 16% by > 1.0 mmol/l and 3% by > 2 mmol/l. This means that if the cut-off for statin treatment were taken as a TC of 5.0 or 3.5 mmol/l then, based on NPTC, alone 18 and 6% of patients, respectively, would not have received a statin. In the present study, NPTC significantly under-estimated TC when compared to laboratory testing. However, in the majority of cases, this would not have affected the decision to prescribe a statin and NPTC testing allows the immediate institution or titration of statin treatment.

  6. Chronic Inflammatory Periodontal Disease in Patients with Human Immunodeficiency Virus.

    OpenAIRE

    Vania López Rodríguez; Emilio Carpio Muñoz; Vicente Fardales Macías; Iralys Benítez Guzmán

    2009-01-01

    Background: The Chronic Inflammatory Periodontal Disease is related with multiple risk factors. Those patients with human immunodeficiency virus have higher risk of presenting this disease and it is usually more serious in these cases. Objective: To describe the prevalence of Chronic Inflammatory Periodontal Disease in patients with HIV. Methods: Descriptive, observational, cross-sectional study including patients with HIV in Sancti Spiritus province. The occurrence of the disease was determi...

  7. Time estimation in mild Alzheimer's disease patients

    Directory of Open Access Journals (Sweden)

    Nichelli Paolo

    2009-07-01

    Full Text Available Abstract Background Time information processing relies on memory, which greatly supports the operations of hypothetical internal timekeepers. Scalar Expectancy Theory (SET postulates the existence of a memory component that is functionally separated from an internal clock and other processing stages. SET has devised several experimental procedures to map these cognitive stages onto cerebral regions and neurotransmitter systems. One of these, the time bisection procedure, has provided support for a dissociation between the clock stage, controlled by dopaminergic systems, and the memory stage, mainly supported by cholinergic neuronal networks. This study aimed at linking the specific memory processes predicted by SET to brain mechanisms, by submitting time bisection tasks to patients with probable Alzheimer's disease (AD, that are known to present substantial degeneration of the fronto-temporal regions underpinning memory. Methods Twelve mild AD patients were required to make temporal judgments about intervals either ranging from 100 to 600 ms (short time bisection task or from 1000 to 3000 ms (long time bisection task. Their performance was compared with that of a group of aged-matched control participants and a group of young control subjects. Results Long time bisection scores of AD patients were not significantly different from those of the two control groups. In contrast, AD patients showed increased variability (as indexed by increased WR values in timing millisecond durations and a generalized inconsistency of responses over the same interval in both the short and long bisection tasks. A similar, though milder, decreased millisecond interval sensitivity was found for elderly subjects. Conclusion The present results, that are consistent with those of previous timing studies in AD, are interpreted within the SET framework as not selectively dependent on working or reference memory disruptions but as possibly due to distortions in different

  8. Preoperative management in patients with Graves' disease.

    Science.gov (United States)

    Piantanida, Eliana

    2017-10-01

    Graves' disease is the most frequent cause of hyperthyroidism in iodine-sufficient geographical areas and is characterized by the presence in patients' serum of autoantibodies directed against the thyrotropin receptor (TRAb) that cause overproduction and release of thyroid hormones. Clinical presentation results from both hyperthyroidism and underlying autoimmunity. The diagnosis is based on characteristic clinical features and biochemical abnormalities. If serum thyrotropin (TSH) is low, serum free thyroxine (FT4) and free triiodothyronine (FT3) concentrations should be measured to distinguish between subclinical (with normal circulating thyroid hormones) and overt hyperthyroidism (with increased circulating thyroid hormones). Graves' disease is treated with any of three effective and relatively safe initial treatment options: antithyroid drugs (ATDs), radioactive iodine ablation (RAIU), and surgery. Total thyroidectomy is favored in several clinical situations, such as intolerance, ineffectiveness or recurrence after ATD treatment, radioiodine therapy contraindicated, documented or suspected thyroid malignancy, one or more large thyroid nodules, coexisting moderate-to-severe active Graves' orbitopathy, women planning a pregnancy within 6 months. Whenever surgery is selected as treatment, selection of an expert high-volume thyroid surgeons is fundamental and careful preoperative management is essential to optimize surgical outcomes. Pretreatment with ATDs in order to promptly achieve the euthyroid state is recommended to avoid the risk of precipitating thyroid storm during surgery. For the majority of patients, euthyroidism is achieved after few weeks of ATD treatment. Beta-blockers, such as propranolol, are often added effectively to control hyperthyroid symptoms. Saturated solution of potassium iodide (SSKI) or potassium iodine (Lugol's solution), given for a short period prior to surgery, in order to reduce both thyroid hormone release and thyroid gland

  9. Radiation therapy in patients with hematologic diseases

    International Nuclear Information System (INIS)

    Hennequin, C.; Maylin, C.

    1995-01-01

    Radiation therapy has a significant place in the treatment of hematologic diseases. Irradiation is a key component of the treatment strategy for Hodgkin's disease and has benefited from clinical studies aimed at improving its therapeutic index. There have been many recent improvements, in particular with regard to accuracy of techniques, imagery, dosimetry, and implementation of quality-control procedures. In localized non-Hodgkin's lymphoma, the gold-standard treatment is radiation therapy coupled with a short course of chemotherapy. In contrast, the place of irradiation in disseminated lymphomas remains to be defined. Prophylactic irradiation of the brain is still used in patients with acute lymphoblastic leukemia. Radiation therapy is of value as palliative treatment of bone lesions of myeloma, in chemo-resistant lymphomas, and in relapses of leukemia. Total body irradiation is a cumbersome but irreplaceable method, which has also benefited from recent clinical and biological studies. Optimal radiation therapy with the best possible therapeutic index requires adequate technological and human resources. (authors). 30 refs., 1 tab

  10. Kleptomania in Patients with Neuro-Behçet's Disease

    OpenAIRE

    Shugaiv, Erkingül; Kıyat-Atamer, Aslı; Tüzün, Erdem; Kürtüncü, Murat; Baral-Kulaksızoğlu, Işın; Akman Demir, Gülşen

    2013-01-01

    Objective This study was conducted to characterize the prevalence and clinical features of kleptomania, an impulse control disorder, in patients with Behçet's disease involving the central nervous system. Subjects and Methods Medical records of 350 patients with neuro-Behçet's disease were evaluated, and clinical and neuropsychological features of patients with kleptomania were noted. Results Of the 350 neuro-Behçet's disease patients 6 (1.7%) had presented with symptoms that fulfilled the cr...

  11. Role of hepatic resection for patients with carcinoid heart disease

    DEFF Research Database (Denmark)

    Bernheim, A.M.; Connolly, H.M.; Rubin, J.

    2008-01-01

    OBJECTIVE: To evaluate the effects of resection of hepatic carcinoid metastases on progression and prognosis of carcinoid heart disease. PATIENTS AND METHODS: From our database of 265 consecutive patients diagnosed as having carcinoid heart disease from January 1, 1980, through December 31, 2005...... nonrandomized study, our data suggest that patients with carcinoid heart disease who undergo hepatic resection have decreased cardiac progression and improved prognosis. Eligible patients should be considered for hepatic surgery Udgivelsesdato: 2008/2...

  12. Prognosis of patients with rheumatic diseases admitted to intensive care.

    Science.gov (United States)

    Beil, M; Sviri, S; de la Guardia, V; Stav, I; Ben-Chetrit, E; van Heerden, P V

    2017-01-01

    Variable mortality rates have been reported for patients with rheumatic diseases admitted to an intensive care unit (ICU). Due to the absence of appropriate control groups in previous studies, it is not known whether the presence of a rheumatic disease constitutes a risk factor. Moreover, the accuracy of the Acute Physiology and Chronic Health Evaluation II (APACHE II) score for predicting outcome in this group of patients has been questioned. The primary goal of this study was to compare outcome of patients with rheumatic diseases admitted to a medical ICU to those of controls. The records of all patients admitted between 1 April 2003 and 30 June 2014 (n=4020) were screened for the presence of a rheumatic disease during admission (n=138). The diagnosis of a rheumatic disease was by standard criteria for these conditions. An age- and gender-matched control group of patients without a rheumatic disease was extracted from the patient population in the database during the same period (n=831). Mortality in ICU, in hospital and after 180 days did not differ significantly between patients with and without rheumatic diseases. There was no difference in the performance of the APACHE II score for predicting outcome in patients with rheumatic diseases and controls. This score, as well as a requirement for the use of inotropes or vasopressors, accurately predicted hospital mortality in the group of patients with rheumatic diseases. In conclusion, patients with a rheumatic condition admitted to intensive care do not do significantly worse than patients without such a disease.

  13. August Wilson's Presentation of Interracial Movements in 1960s

    Science.gov (United States)

    Li, Yanghua

    2018-01-01

    August Wilson's "Two Trains Running" tells the life predicaments of the patrons at Memphis' restaurant in the 1960s. Though Wilson avoids addressing the interracial conflicts and movements on stage to eschew protesting and propaganda, they as social background could not be totally ignored in the play. The paper analyses Wilson's use of…

  14. Role of CT in patients with prostatic disease

    International Nuclear Information System (INIS)

    Yoshizako, Takeshi; Sugimura, Kazuro; Kaji, Yasushi; Moriyama, Masahiro; Ishida, Tetsuya

    1994-01-01

    The purpose of this study was to evaluate the role of CT in patients with and without prostatic disease. CT and MR findings were reviewed in 25 patients without known prostatic disease, 11 patients with benign prostatic hyperplasia and 11 patients with prostatic cancer. Differential attenuation allowed for distinction of the peripheral zone and inner gland of the prostate by CT in 72% of normal patients. The distinction rate of prostatic zonal anatomy by CT decreased to 30% in the diseased group. When zonal anatomy of the prostate is not visualized on pelvic enhanced CT, the presence of prostatic disease might be considered. (author)

  15. Nonalcoholic Fatty Liver Disease & NASH

    Science.gov (United States)

    ... Eating, Diet, & Nutrition Clinical Trials Wilson Disease Nonalcoholic Fatty Liver Disease & NASH View or Print All Sections Definition & Facts Nonalcoholic fatty liver disease (NAFLD) is a condition in which fat ...

  16. Prevalence of mucocutaneous findings in Celiac disease patients

    Directory of Open Access Journals (Sweden)

    Derya Yayla

    2015-12-01

    Full Text Available Background and Design: Celiac disease is an immune-mediated enteropathy which develops as a result of exposure to gluten in food products in individuals with a genetic predisposition. Gastrointestinal and extra-gastrointestinal clinical findings can be seen in these patients. An increased frequence of autoimmune diseases has been reported in patients with celiac disease. Some dermatological diseases, such as dermatitis herpetiformis, vitiligo, psoriasis, alopecia areata and recurrent aphthous stomatitis have been reported to be more common among patients with celiac disease. However, there are no controlled studies on this subject. The aim of this study was to identify the mucocutaneous symptoms seen in celiac patients and to compare these findings with a control group. Materials and Methods: Forty-nine celiac patients and 54 age-and sex-matched healthy volunteers were included in the study. In the patient group, celiac disease history, height and weight parameters, the medications of the patients, compliance to a gluten-free diet, concomitant skin disorders and additional illnesses were questioned; height and weight parameters, diagnosed illnesses, and medications were questioned in the control group. Dermatological analyses were performed in all participants. Results: Mucocutaneous findings were found to be present in 38 patients (77.6% in the celiac patient group and in 31 (57.4% individuals in the control group. The presence of mucocutaneous findings in celiac patients was significantly more common than in the control group. While immune-mediated mucocutaneous diseases were detected in 8 celiac patients (16.3%, none of the individuals in the control group had immune-mediated mucocutaneous diseases and a statistically significant difference was found between the two groups. Conclusion: In celiac patients, the frequency of immune-mediated mucocutaneous diseases and all mucocutaneous diseases were found to be increased. Therefore, we suggest

  17. Lumbar Spine Surgery in Patients with Parkinson Disease.

    Science.gov (United States)

    Schroeder, Joshua E; Hughes, Alexander; Sama, Andrew; Weinstein, Joseph; Kaplan, Leon; Cammisa, Frank P; Girardi, Federico P

    2015-10-21

    Parkinson disease is the second most common neurodegenerative condition. The literature on patients with Parkinson disease and spine surgery is limited, but increased complications have been reported. All patients with Parkinson disease undergoing lumbar spine surgery between 2002 and 2012 were identified. Patients' charts, radiographs, and outcome questionnaires were reviewed. Parkinson disease severity was assessed with use of the modified Hoehn and Yahr staging scale. Complications and subsequent surgeries were analyzed. Risk for reoperation was assessed. Ninety-six patients underwent lumbar spine surgery. The mean patient age was 63.0 years. The mean follow-up duration was 30.1 months. The Parkinson disease severity stage was Parkinson disease severity stage of ≥3 (p Parkinson disease is good, with improvement of spine-related pain. A larger prospective study is warranted. Copyright © 2015 by The Journal of Bone and Joint Surgery, Incorporated.

  18. Cardiovascular disease and cognitive function in maintenance hemodialysis patients

    Science.gov (United States)

    Cardiovascular disease (CVD) and cognitive impairment are common in dialysis patients. Given the proposed role of microvascular disease on cognitive function, particularly cognitive domains that incorporate executive functions, we hypothesized that prevalent systemic CVD would be associated with wor...

  19. ISCHEMIC HEART DISEASE IN PATIENTS OF CHRONIC KIDNEY DISEASE ON MAINTENANCE HEMODIALYSIS

    OpenAIRE

    Dr. Aijaz Ahmed, Dr. Muhammad Nadeem Ahsan, Dr. Pooran Mal*, Dr. Hamid Nawaz Ali Memon, Dr. Samreen and Dr. Sajjad Ali

    2017-01-01

    Objective: To determine the frequency of ischemic heart disease in patients of chronic kidney disease on maintenance hemodialysis Patients and Methods: A total of 160 patients with diagnosis of CKD in department of Nephrology, Liaquat National Hospital Karachi were recruited in this six months cross sectional study. Demographic information was recorded. Then patients were underwent ECG. Reports were assessed and ischemic heart disease was labeled while all the data was collected using the pro...

  20. Prevalence of coeliac disease in Italian patients affected by Addison's disease.

    Science.gov (United States)

    Biagi, Federico; Campanella, Jonia; Soriani, Alessandra; Vailati, Alberto; Corazza, Gino R

    2006-03-01

    It is well known that coeliac disease is associated with autoimmune endocrine diseases, such as autoimmune thyroid disease and insulin-dependent diabetes mellitus. Recently, coeliac disease has been shown in approximately 10% of patients with autoimmune Addison's disease. Addison's disease is the most common cause of primary adrenocortical insufficiency and it shares several clinical features with coeliac disease. Although hyperpigmentation and hypotension are the most specific signs, gastrointestinal symptoms are common and can be the first complaints of the patients. The aim of our study was to investigate the prevalence of coeliac disease in Italian patients with Addison's disease. Seventeen consecutive patients affected by Addison's disease (14 F, mean age 53.9 years, range 26-79 years) were enrolled in the study. Eleven of them were affected by Addison's disease associated with autoimmune thyroid disease and/or insulin-dependent diabetes mellitus; the other 6 patients were suffering from isolated Addison's disease. Diagnosis had been performed at the age of 40.5 years (range 23-55). Steroid treatment had already been started in 16 of the patients. Endomysial antibodies were tested in all of them and a duodenal biopsy was taken in those found to be positive for antiendomysial antibody (EMA). One out of 17 patients was found to be EMA positive. Duodenal biopsy confirmed the diagnosis of coeliac disease by showing subtotal villous atrophy. Although we studied only a small sample, our preliminary results confirmed that Addison's disease is associated with coeliac disease, being present in 5.9% of patients with Addison's disease. Since the symptoms can be similar and treatment of Addison's disease can mask coeliac disease, this association should always be actively investigated.

  1. Clinically Unsuspected Prion Disease Among Patients With Dementia Diagnoses in an Alzheimer's Disease Database.

    Science.gov (United States)

    Maddox, Ryan A; Blase, J L; Mercaldo, N D; Harvey, A R; Schonberger, L B; Kukull, W A; Belay, E D

    2015-12-01

    Brain tissue analysis is necessary to confirm prion diseases. Clinically unsuspected cases may be identified through neuropathologic testing. National Alzheimer's Coordinating Center (NACC) Minimum and Neuropathologic Data Set for 1984 to 2005 were reviewed. Eligible patients had dementia, underwent autopsy, had available neuropathologic data, belonged to a currently funded Alzheimer's Disease Center (ADC), and were coded as having an Alzheimer's disease clinical diagnosis or a nonprion disease etiology. For the eligible patients with neuropathology indicating prion disease, further clinical information, collected from the reporting ADC, determined whether prion disease was considered before autopsy. Of 6000 eligible patients in the NACC database, 7 (0.12%) were clinically unsuspected but autopsy-confirmed prion disease cases. The proportion of patients with dementia with clinically unrecognized but autopsy-confirmed prion disease was small. Besides confirming clinically suspected cases, neuropathology is useful to identify unsuspected clinically atypical cases of prion disease. © The Author(s) 2015.

  2. Wilson loops in very high order lattice perturbation theory

    International Nuclear Information System (INIS)

    Ilgenfritz, E.M.; Nakamura, Y.; Perlt, H.; Schiller, A.; Rakow, P.E.L.; Schierholz, G.; Regensburg Univ.

    2009-10-01

    We calculate Wilson loops of various sizes up to loop order n=20 for lattice sizes of L 4 (L=4,6,8,12) using the technique of Numerical Stochastic Perturbation Theory in quenched QCD. This allows to investigate the behaviour of the perturbative series at high orders. We discuss three models to estimate the perturbative series: a renormalon inspired fit, a heuristic fit based on an assumed power-law singularity and boosted perturbation theory. We have found differences in the behavior of the perturbative series for smaller and larger Wilson loops at moderate n. A factorial growth of the coefficients could not be confirmed up to n=20. From Monte Carlo measured plaquette data and our perturbative result we estimate a value of the gluon condensate left angle (α)/(π)GG right angle. (orig.)

  3. On the duality-transformed Wilson loop operator

    International Nuclear Information System (INIS)

    Mizrachi, L.

    1981-08-01

    Duality transformation of the vacuum expectation value of the Wilson loop operator is performed in the radial gauge (xsub(μ)Asub(μ)sup(a)(x) = 0). It is found to be equal, up to a multiplicative constant, to , where O(c) is a line integral along the loop c (defining the Wilson loop operator) of a function of the dual field variables. In the weak coupling region self duality is recovered in the sense that the Lagrangian is local gauge invariant defined in terms of the dual gauge potentials but with g (the coupling constant) replaced by 1/g, and O(c) is simply the line integral of the dual gauge potentials. For large g, a strong coupling expansion is suggested (but the theory is not local gauge invariant). (author)

  4. Improved quasi parton distribution through Wilson line renormalization

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Jiunn-Wei [Department of Physics, Center for Theoretical Sciences, and Leung Center for Cosmology and Particle Astrophysics, National Taiwan University, Taipei, 106, Taiwan (China); Center for Theoretical Physics, Massachusetts Institute of Technology, Cambridge, MA 02139 (United States); Ji, Xiangdong [INPAC, Department of Physics and Astronomy, Shanghai Jiao Tong University, Shanghai, 200240 (China); Maryland Center for Fundamental Physics, Department of Physics, University of Maryland, College Park, MD 20742 (United States); Zhang, Jian-Hui, E-mail: jianhui.zhang@physik.uni-regensburg.de [Institut für Theoretische Physik, Universität Regensburg, D-93040 Regensburg (Germany)

    2017-02-15

    Recent developments showed that hadron light-cone parton distributions could be directly extracted from spacelike correlators, known as quasi parton distributions, in the large hadron momentum limit. Unlike the normal light-cone parton distribution, a quasi parton distribution contains ultraviolet (UV) power divergence associated with the Wilson line self energy. We show that to all orders in the coupling expansion, the power divergence can be removed by a “mass” counterterm in the auxiliary z-field formalism, in the same way as the renormalization of power divergence for an open Wilson line. After adding this counterterm, the quasi quark distribution is improved such that it contains at most logarithmic divergences. Based on a simple version of discretized gauge action, we present the one-loop matching kernel between the improved non-singlet quasi quark distribution with a lattice regulator and the corresponding quark distribution in dimensional regularization.

  5. Improved quasi parton distribution through Wilson line renormalization

    Directory of Open Access Journals (Sweden)

    Jiunn-Wei Chen

    2017-02-01

    Full Text Available Recent developments showed that hadron light-cone parton distributions could be directly extracted from spacelike correlators, known as quasi parton distributions, in the large hadron momentum limit. Unlike the normal light-cone parton distribution, a quasi parton distribution contains ultraviolet (UV power divergence associated with the Wilson line self energy. We show that to all orders in the coupling expansion, the power divergence can be removed by a “mass” counterterm in the auxiliary z-field formalism, in the same way as the renormalization of power divergence for an open Wilson line. After adding this counterterm, the quasi quark distribution is improved such that it contains at most logarithmic divergences. Based on a simple version of discretized gauge action, we present the one-loop matching kernel between the improved non-singlet quasi quark distribution with a lattice regulator and the corresponding quark distribution in dimensional regularization.

  6. Meson masses in electromagnetic fields with Wilson fermions

    Science.gov (United States)

    Bali, G. S.; Brandt, B. B.; Endrődi, G.; Gläßle, B.

    2018-02-01

    We determine the light meson spectrum in QCD in the presence of background magnetic fields using quenched Wilson fermions. Our continuum extrapolated results indicate a monotonous reduction of the connected neutral pion mass as the magnetic field grows. The vector meson mass is found to remain nonzero, a finding relevant for the conjectured ρ -meson condensation at strong magnetic fields. The continuum extrapolation was facilitated by adding a novel magnetic field-dependent improvement term to the additive quark mass renormalization. Without this term, sizable lattice artifacts that would deceptively indicate an unphysical rise of the connected neutral pion mass for strong magnetic fields are present. We also investigate the impact of these lattice artifacts on further observables like magnetic polarizabilities and discuss the magnetic field-induced mixing between ρ -mesons and pions. We also derive Ward-Takashi identities for QCD +QED both in the continuum formulation and for (order a -improved) Wilson fermions.

  7. Exact results for Wilson loops in arbitrary representations

    Energy Technology Data Exchange (ETDEWEB)

    Fiol, Bartomeu; Torrents, Genís [Departament de Física Fonamental i Institut de Ciències del Cosmos, Universitat de Barcelona,Martí i Franquès 1, 08028 Barcelona, Catalonia (Spain)

    2014-01-08

    We compute the exact vacuum expectation value of 1/2 BPS circular Wilson loops of N=4 U(N) super Yang-Mills in arbitrary irreducible representations. By localization arguments, the computation reduces to evaluating certain integrals in a Gaussian matrix model, which we do using the method of orthogonal polynomials. Our results are particularly simple for Wilson loops in antisymmetric representations; in this case, we observe that the final answers admit an expansion where the coefficients are positive integers, and can be written in terms of sums over skew Young diagrams. As an application of our results, we use them to discuss the exact Bremsstrahlung functions associated to the corresponding heavy probes.

  8. Hypoglycemia in Patients with Diabetes and Renal Disease

    OpenAIRE

    Alsahli, Mazen; Gerich, John E.

    2015-01-01

    This article summarizes our current knowledge of the epidemiology, pathogenesis, and morbidity of hypoglycemia in patients with diabetic kidney disease and reviews therapeutic limitations in this situation.

  9. Hypoglycemia in Patients with Diabetes and Renal Disease.

    Science.gov (United States)

    Alsahli, Mazen; Gerich, John E

    2015-05-13

    This article summarizes our current knowledge of the epidemiology, pathogenesis, and morbidity of hypoglycemia in patients with diabetic kidney disease and reviews therapeutic limitations in this situation.

  10. Wilson line distributions in hot SU(2) gluodynamics

    International Nuclear Information System (INIS)

    Ilgenfritz, E.M.

    1982-01-01

    Monte-Carlo results concerning the order parameter related to confinement and its distribution from the point of view of the dilute instanton gas approximation are Discussed. Identified is a threshold effect in the Wilson line distribution with the onset of instantons and established is the relation between the temperature of instanton saturation and the confinement temperature. Some other details of our Monte-Carlo results are reported as well

  11. SU(2) string tension from large Wilson loops

    International Nuclear Information System (INIS)

    Karsch, F.; Lang, C.B.

    1984-01-01

    We determine expectation values of Wilson loops and correlations of Polyakov loops on lattices of size 10 X 16 3 and 8 X 16 3 at β values 2.25 and 2.375. Utilizing a recently proposed method to reduce the variance of loop expectation values, we are able to measure loops up to 6 X 6. We find Λsub(L) = 0.0151 +- 0.0006√sub(K) at β = 2.375. (orig.)

  12. Corrections to the Banks-Casher relation with Wilson quarks

    CERN Document Server

    Necco, S

    2013-01-01

    The Banks-Casher relation links the spectral density of the Dirac operator with the existence of a chiral condensate and spontaneous breaking of chiral symmetry. This relation receives corrections from a finite value of the quark mass, a finite space-time volume and, if evaluated on a discrete lattice, from the finite value of the lattice spacing a. We present a status report of a determination of these corrections for Wilson quarks.

  13. Raising and Lowering Operators for Askey-Wilson Polynomials

    Directory of Open Access Journals (Sweden)

    Siddhartha Sahi

    2007-01-01

    Full Text Available In this paper we describe two pairs of raising/lowering operators for Askey-Wilson polynomials, which result from constructions involving very different techniques. The first technique is quite elementary, and depends only on the ''classical'' properties of these polynomials, viz. the q-difference equation and the three term recurrence. The second technique is less elementary, and involves the one-variable version of the double affine Hecke algebra.

  14. Wilson flow and scale setting from lattice QCD

    Energy Technology Data Exchange (ETDEWEB)

    Bornyakov, V.G. [Institute for High Energy Physics, Protvino (Russian Federation); Institute of Theoretical and Experimental Physics, Moscow (Russian Federation); Far Eastern Federal Univ., Vladivostok (Russian Federation). School of Biomedicine; Horsley, R. [Edinburgh Univ. (United Kingdom). School of Physics and Astronomy; Hudspith, R. [York Univ., Toronto, ON (Canada). Dept. of Mathematics and Statistics; Collaboration: QCDSF-UKQCD Collaboration; and others

    2015-08-15

    We give a determination of the phenomenological value of the Wilson (or gradient) flow scales t{sub 0} and w{sub 0} for 2+1 flavours of dynamical quarks. The simulations are performed keeping the average quark mass constant, which allows the approach to the physical point to be made in a controlled manner. O(a) improved clover fermions are used and together with four lattice spacings this allows the continuum extrapolation to be taken.

  15. A conditioning technique for matrix inversion for Wilson fermions

    International Nuclear Information System (INIS)

    DeGrand, T.A.

    1988-01-01

    I report a simple technique for conditioning conjugate gradient or conjugate residue matrix inversion as applied to the lattice gauge theory problem of computing the propagator of Wilson fermions. One form of the technique provides about a factor of three speedup over an unconditioned algorithm while running at the same speed as an unconditioned algorithm. I illustrate the method as it is applied to a conjugate residue algorithm. (orig.)

  16. Pontes e rupturas no fabular de Wilson Bueno

    OpenAIRE

    Furquim, Fulvia Maria Giaretta de Almeida

    2008-01-01

    O trabalho tem por objetivo analisar tres obras contemporaneas do escritor paranaense Wilson Bueno (1949- ), que fazem parte de um projeto literario, em que as personagens sao apresentadas de uma visao inicialmente plural, como se apenas uma delas pudesse ser a representacao do todo, para uma optica individualista, caracteristica de um sistema capitalista. Sao elas: Manual de Zoofilia (1991), Jardim Zoologico (1999) e Cachorrros do Ceu (2005). O escritor contemporaneo segue a tradicao dos bes...

  17. Wilson and Domainwall Kernels on Oakforest-PACS

    Science.gov (United States)

    Kanamori, Issaku; Matsufuru, Hideo

    2018-03-01

    We report the performance of Wilson and Domainwall Kernels on a new Intel Xeon Phi Knights Landing based machine named Oakforest-PACS, which is co-hosted by University of Tokyo and Tsukuba University and is currently fastest in Japan. This machine uses Intel Omni-Path for the internode network. We compare performance with several types of implementation including that makes use of the Grid library. The code is incorporated with the code set Bridge++.

  18. Wilson Martins: between the intelligentsia and the university (1951

    Directory of Open Access Journals (Sweden)

    Névio de Campos

    2012-05-01

    Full Text Available Abstract The purpose of this article is to analyze the presence of Ortega y Gasset in the Parana’s State group during the 1950s, especially his influence in the thinking of Wilson Martins, and to emphasize the debate on the ideas of the intellectual and the university. The article discusses about the contributions of this Parana’s thinker on the Parana’s university teaching constituting and organizing process, and emphasizes that the Wilson Martins’ role consisted in promoting the debate on the presence of the intellectual person in modern society, attributing the mission as guardian of the moral and herald of cultural renovation, without forgetting the Brazilian and European political-cultural context as the founding background to higher education. It bases itself on the speech entitled “The rebellion against intelligence and the mission of the university”, that occurred at the University of Parana in 1951, and on the work The History of Brazilian Intelligence, written by Wilson Martins.

  19. The Observatory as Laboratory: Spectral Analysis at Mount Wilson Observatory

    Science.gov (United States)

    Brashear, Ronald

    2018-01-01

    This paper will discuss the seminal changes in astronomical research practices made at the Mount Wilson Observatory in the early twentieth century by George Ellery Hale and his staff. Hale’s desire to set the agenda for solar and stellar astronomical research is often described in terms of his new telescopes, primarily the solar tower observatories and the 60- and 100-inch telescopes on Mount Wilson. This paper will focus more on the ancillary but no less critical parts of Hale’s research mission: the establishment of associated “physical” laboratories as part of the observatory complex where observational spectral data could be quickly compared with spectra obtained using specialized laboratory equipment. Hale built a spectroscopic laboratory on the mountain and a more elaborate physical laboratory in Pasadena and staffed it with highly trained physicists, not classically trained astronomers. The success of Hale’s vision for an astronomical observatory quickly made the Carnegie Institution’s Mount Wilson Observatory one of the most important astrophysical research centers in the world.

  20. Factors associated with gastro-duodenal disease in patients ...

    African Journals Online (AJOL)

    use two weeks preceding endoscopic analysis and patients with oesophageal disease were excluded from further study. Korle-Bu receives out-patient referrals from sever- al primary and specialist centres across Southern Ghana. One hundred ...

  1. Physical Activity Recommendations in Patients with Chronic Obstructive Pulmonary Disease

    NARCIS (Netherlands)

    Hartman, Jorine E.; Boezen, H. Marike; Zuidema, Menno J.; de Greef, Mathieu H. G.; ten Hacken, Nick H. T.; Boezen, Hendrika

    2014-01-01

    Background: Physical activity recommendations are hardly studied in patients with chronic obstructive pulmonary disease (COPD), and specifically recommendations that are individualized to a patient's aerobic fitness level are not studied. Objectives: To compare individualized (relative) and

  2. Can Patients with Cardiovascular Disease Take Nonsteroidal Antiinflammatory Drugs?

    Science.gov (United States)

    ... of the American Heart Association Cardiology Patient Page Can Patients With Cardiovascular Disease Take Nonsteroidal Antiinflammatory Drugs? ... It also does not upset the gastrointestinal tract. Can People With CVD Take an NSAID? If you ...

  3. Psychotropic medication use among patients with celiac disease.

    Science.gov (United States)

    Zylberberg, Haley M; Ludvigsson, Jonas F; Green, Peter H R; Lebwohl, Benjamin

    2018-03-27

    Celiac disease is a multi-system disorder with manifestations that may result in psychiatric disorders. We assessed the prevalence of medication use to treat psychiatric disorders in celiac disease patients. We conducted a cross-sectional study of patients undergoing esophagogastroduodenoscopy over 9-years at a celiac disease referral center. We compared the prevalence of psychotropic medication use among celiac disease patients (n = 1293) to a control group (n = 1401) with abdominal pain or reflux. Among all patients the mean age was 48.4 years, most were female (69.5%), and 22.7% used any psychotropic medication. There was no difference between overall psychotropic medication use among celiac disease patients and controls (23.9% vs 21.8%, OR 1.16; 95% CI 0.96-1.39, p = 0.12). However, those with celiac disease were more likely to use antidepressants on univariate (16.4% vs 13.4%, p = 0.03) and multivariate analysis (OR 1.28; 95% CI 1.03-1.59; p = 0.03). Use of psychotropic medications was not associated with disease duration or mode of presentation of celiac disease. Celiac disease patients use psychotropic medications at similar rates as those with other gastrointestinal diseases, though subgroup analysis suggests they may use more antidepressants. Future studies should investigate whether celiac disease is associated with mood disorders that are not treated with medications.

  4. The spectrum of bone disease in Jordanian hemodialysis patients

    International Nuclear Information System (INIS)

    Younes, Nidal A.; Al-Mansour, M.; Sroujieh, Ahmad S.; Wahbeh, A.; Ailabouni, W.; Hamzah, Y.; Mahafzah, W.

    2006-01-01

    To evaluate the spectrum of mineral abnormalities and bone disease (BD) in hemodialysis patients at Jordan University Hospital (JUH), Amman, Jordan. A cross-sectional study was conducted among 63 patients (38 males and 25 females), mean age 44.19 years (range 17-76 years), with chronic kidney disease (CKD) on regular hemodialysis at JUH between November 2004 and April 2005. All patients have undergone complete blood count, chemistry profile, alkaline phosphatase, serum albumin, intact parathyroid hormone (iPTH) and plain x-rays. Bone disorders were identified in 45 patients on x-rays (70%). Osteopenia was found in 43 patients (68.3%), subperiosteal resorption in 24 patients (38.3%) and metastatic calcification in 22 patients (35%). Hypocalcemia was found in 28.6% and hypercalcemia in 7.9%. All patients were taking calcium carbonate, and 55.5% of patients were on vitamin D supplements. The calcium levels in 63.5% and the phosphorus levels in 50.8% of patients were within the recommended guidelines of the National Kidney Foundation Kidney Disease Outcomes Quality Initiative (K/DOQI). Serum i-PTH level was above 300 pg/ml high turnover bone disease in 24.6% of patients, 21.3% had iPTH of 150-300 pg/ml target, and 44.3% had i-PTH levels below 100 pg/mL suggesting a dynamic bone disease. Patients with severe bone disease had a statistically significant higher iPTH levels (p<0.005). Bone disease and mineral abnormalities are common in hemodialysis patients at JUH. Earlier detection of bone disease and better overall management strategy may reduce the frequency and severity of bone disease in CKD patients in Jordan. (author)

  5. Prevalence and overlap of Disease Management Program diseases in older hospitalized patients

    DEFF Research Database (Denmark)

    Juul-Larsen, Helle Gybel; Petersen, Janne; Sivertsen, Ditte Maria

    2017-01-01

    Many countries, like Denmark, have tailored Disease Management Programs (DMPs) based on patients having single chronic diseases [defined institutionally as "program diseases" (PDs)], which can complicate treatment for those with multiple chronic diseases. The aims of this study were (a) to assess...... the prevalence and overlap among acutely hospitalized older medical patients of PDs defined by the DMPs, and (b) to examine transitions between different departments during hospitalization and mortality and readmission within two time intervals among patients with the different PDs. We conducted a registry study...... of 4649 acutely hospitalized medical patients ≥65 years admitted to Copenhagen University Hospital, Hvidovre, Denmark, in 2012, and divided patients into six PD groups (type 2 diabetes, chronic obstructive pulmonary disease, cardiovascular disease, musculoskeletal disease, dementia and cancer), each...

  6. Celiac disease and other autoimmune diseases in patients with collagenous colitis.

    Science.gov (United States)

    Vigren, Lina; Tysk, Curt; Ström, Magnus; Kilander, Anders F; Hjortswang, Henrik; Bohr, Johan; Benoni, Cecilia; Larson, Lasse; Sjöberg, Klas

    2013-08-01

    Collagenous colitis (CC) is associated with autoimmune disorders. The aim of the present study was to investigate the relationship between CC and autoimmune disorders in a Swedish multicenter study. Patients with CC answered questionnaires about demographic data and disease activity. The patient's files were scrutinized for information about autoimmune diseases. A total number of 116 CC patients were included; 92 women, 24 men, median age 62 years (IQR 55-73). In total, 30.2% had one or more autoimmune disorder. Most common were celiac disease (CeD; 12.9%) and autoimmune thyroid disease (ATD, 10.3%), but they also had Sjögren's syndrome (3.4%), diabetes mellitus (1.7%) and conditions in skin and joints (6.0%). Patients with associated autoimmune disease had more often nocturnal stools. The majority of the patients with associated CeD or ATD got these diagnoses before the colitis diagnosis. Autoimmune disorders occurred in one-third of these patients, especially CeD. In classic inflammatory bowel disease (IBD), liver disease is described in contrast to CC where no cases occurred. Instead, CeD was prevalent, a condition not reported in classic IBD. Patients with an associated autoimmune disease had more symptoms. Patients with CC and CeD had an earlier onset of their colitis. The majority of the patients with both CC and CeD were smokers. Associated autoimmune disease should be contemplated in the follow-up of these patients.

  7. Patient-centered care in Parkinson's disease

    NARCIS (Netherlands)

    Eijk, M. van der

    2015-01-01

    Patient centeredness means providing care that is respectful of and responsive to individual patient preferences, needs and values, and ensuring that patient values guide all clinical decisions’.The concept assumes that both physicians and patients are experts; physicians in diagnostic and

  8. Predictive factors of thyroid cancer in patients with Graves' disease.

    Science.gov (United States)

    Ren, Meng; Wu, Mu Chao; Shang, Chang Zhen; Wang, Xiao Yi; Zhang, Jing Lu; Cheng, Hua; Xu, Ming Tong; Yan, Li

    2014-01-01

    The best preoperative examination in Graves' disease with thyroid cancer still remains uncertain. The objectives of the present study were to investigate the prevalence of thyroid cancer in Graves' disease patients, and to identify the predictive factors and ultrasonographic features of thyroid cancer that may aid the preoperative diagnosis in Graves' disease. This retrospective study included 423 patients with Graves' disease who underwent surgical treatment from 2002 to 2012 at our institution. The clinical features and ultrasonographic findings of thyroid nodules were recorded. The diagnosis of thyroid cancer was determined according to the pathological results. Thyroid cancer was discovered in 58 of the 423 (13.7 %) surgically treated Graves' disease patients; 46 of those 58 patients had thyroid nodules, and the other 12 patients were diagnosed with incidentally discovered thyroid carcinomas without thyroid nodules. Among the 58 patients with thyroid cancer, papillary microcarcinomas were discovered in 50 patients, and multifocality and lymph node involvement were detected in the other 8 patients. Multivariate regression analysis showed younger age was the only significant factor predictive of metastatic thyroid cancer. Ultrasonographic findings of calcification and intranodular blood flow in thyroid nodules indicate that they are more likely to harbor thyroid cancers. Because the influencing factor of metastatic thyroid cancers in Graves' disease is young age, every suspicious nodule in Graves' disease patients should be evaluated and treated carefully, especially in younger patients because of the potential for metastasis.

  9. Two adolescent patients with coexistent Graves' disease and Moyamoya disease in Korea.

    Science.gov (United States)

    Cheon, Chong Kun; Kim, Su Yung; Yoo, Jae-Ho

    2014-06-01

    Moyamoya disease is a cerebrovascular condition that results in the narrowing of the vessels of the circle of Willis and collateral vessel formation at the base of the brain. Although relationships between Graves' disease and cerebrovascular accidents in Moyamoya disease are obscure, the coexistence of the two diseases is noteworthy. Moyamoya disease has been rarely reported in adolescent patients with thyrotoxicosis. Recently, we encountered two adolescent Korean patients with Moyamoya disease associated with Graves' disease who presented with episodic right-sided hemiparesis and syncope. These two girls who had Graves' disease had no history of other diseases or head trauma. A thyroid function test revealed a euthyroid state and a high thyroid-stimulating hormone (TSH) receptor antibody titer at that time. The patients were diagnosed with Moyamoya disease based on brain magnetic resonance angiography and cerebral four-vessel angiography. The patients underwent cranial revascularization by encephalo-duroarterio-synangiosis as soon as a diagnosis was made, which resulted in successful symptom resolution. They fared well and had no additional neurological symptoms as of their last follow-up visits. Here, we report these two cases of confirmed Moyamoya disease complicated by Graves' disease with a review of the literature, and discuss the possible association between the two diseases. To our knowledge, this is the first report in South Korea on Moyamoya disease associated with Graves' disease in adolescents with a euthyroid.

  10. Symmetries of Maldacena-Wilson loops from integrable string theory

    International Nuclear Information System (INIS)

    Muenkler, Hagen

    2017-01-01

    This thesis discusses hidden symmetries within N=4 supersymmetric Yang-Mills theory or its AdS/CFT dual, string theory in AdS 5 x S 5 . Here, we focus on the Maldacena-Wilson loop, which is a suitable object for this study since its vacuum expectation value is finite for smooth contours and the conjectured duality to scattering amplitudes provides a conceptual path to transfer its symmetries to other observables. Its strong-coupling description via minimal surfaces in AdS 5 allows to construct the symmetries from the integrability of the underlying classical string theory. This approach has been utilized before to derive a strong-coupling Yangian symmetry of the Maldacena-Wilson loop and describe equiareal deformations of minimal surfaces in AdS 3 . These two findings are connected and extended in the present thesis. In order to discuss the symmetries systematically, we first discuss the symmetry structure of the underlying string model. The discussion can be generalized to the discussion of generic symmetric space models. For these, we find that the symmetry which generates the equiareal deformations of minimal surfaces in AdS 3 has a central role in the symmetry structure of the model: It acts as a raising operator on the infinite tower of conserved charges, thus generating the spectral parameter, and can be employed to construct all symmetry variations from the global symmetry of the model. It is thus referred to as the master symmetry of symmetric space models. Additionally, the algebra of the symmetry variations and the conserved charges is worked out. For the concrete case of minimal surfaces in AdS 5 , we discuss the deformation of the four-cusp solution, which provides the dual description of the four-gluon scattering amplitude. This marks the first step toward transferring the master symmetry to scattering amplitudes. Moreover, we compute the master and Yangian symmetry variations of generic, smooth boundary curves. The results leads to a coupling

  11. Symmetries of Maldacena-Wilson loops from integrable string theory

    Energy Technology Data Exchange (ETDEWEB)

    Muenkler, Hagen

    2017-09-11

    This thesis discusses hidden symmetries within N=4 supersymmetric Yang-Mills theory or its AdS/CFT dual, string theory in AdS{sub 5} x S{sup 5}. Here, we focus on the Maldacena-Wilson loop, which is a suitable object for this study since its vacuum expectation value is finite for smooth contours and the conjectured duality to scattering amplitudes provides a conceptual path to transfer its symmetries to other observables. Its strong-coupling description via minimal surfaces in AdS{sub 5} allows to construct the symmetries from the integrability of the underlying classical string theory. This approach has been utilized before to derive a strong-coupling Yangian symmetry of the Maldacena-Wilson loop and describe equiareal deformations of minimal surfaces in AdS{sub 3}. These two findings are connected and extended in the present thesis. In order to discuss the symmetries systematically, we first discuss the symmetry structure of the underlying string model. The discussion can be generalized to the discussion of generic symmetric space models. For these, we find that the symmetry which generates the equiareal deformations of minimal surfaces in AdS{sub 3} has a central role in the symmetry structure of the model: It acts as a raising operator on the infinite tower of conserved charges, thus generating the spectral parameter, and can be employed to construct all symmetry variations from the global symmetry of the model. It is thus referred to as the master symmetry of symmetric space models. Additionally, the algebra of the symmetry variations and the conserved charges is worked out. For the concrete case of minimal surfaces in AdS{sub 5}, we discuss the deformation of the four-cusp solution, which provides the dual description of the four-gluon scattering amplitude. This marks the first step toward transferring the master symmetry to scattering amplitudes. Moreover, we compute the master and Yangian symmetry variations of generic, smooth boundary curves. The results

  12. Genetic analysis of 55 northern Vietnamese patients with Wilson ...

    Indian Academy of Sciences (India)

    Le Anh Tuan Pham

    2017-12-19

    Dec 19, 2017 ... et al. 1993). The ATP7B gene consists of 21 exons and 20 introns. It is ∼7.5 kb in size and ... tal in Hanoi from 2010 to 2015. Diagnosis of WD ..... 6, 616–623. Figus A., Angius A., Loudianos G., Bertini C., Dessi V., Loi. A. et al ...

  13. Genetic analysis of 55 northern Vietnamese patients with Wilson ...

    Indian Academy of Sciences (India)

    We used Sanger sequencing to identify mutation hot spots in 55 northern Vietnamese with a clinical diagnosis of WD. Mutations were screened and detected by direct DNA sequencing. A total of 26 different ATP7B gene mutations were identified, including seven novel mutations (five nonsense and two missense mutations).

  14. Genetic analysis of 55 northern Vietnamese patients with Wilson ...

    Indian Academy of Sciences (India)

    2017-12-19

    Dec 19, 2017 ... We used Sanger sequencing to identify mutation hot spots in 55 northern Vietnamese with a clinical diagnosis of WD. Mutations were screened and detected by direct DNA sequencing. A total of 26 different ATP7B gene mutations were identified, including seven novel mutations (five nonsense and two ...

  15. Urinary Exertion Of Calcium By Urinary Stone Disease Patients And ...

    African Journals Online (AJOL)

    To compare the urinary excretion of calcium by subjects in a known area of high incidence of urinary stone disease, and a known area of low incidence, 12 adult male patients with idiopathic calcigerous urinary stone disease in south-East Nigeria and 55 similar patients from Scotland, United Kingdom were analyzed ...

  16. Profile of Ear Diseases among Elderly Patients in Sagamu, South ...

    African Journals Online (AJOL)

    The importance of screening for hearing impairment in the elderly patients was also stressed. KEYWORDS: Cerumen, Ear disease, Elderly, Otitis, Presbycusis. Erratum Note: Olusola AS on the article “Profile of Ear Diseases among Elderly Patients in Sagamu, South-Western Nigeria” on Page Nig. J. Med 2013. 143-147.

  17. Diagnosis and treatment of invasive fungal diseases in patients with severe liver diseases

    Directory of Open Access Journals (Sweden)

    ZANG Hong

    2016-09-01

    Full Text Available Invasive fungal diseases (IFDs are an important factor affecting the prognosis of patients with severe liver diseases, and their early diagnosis remains a challenge for clinicians. The four most commonly seen IFDs are candidiasis, aspergillosis, cryptococcosis, and pneumocystis pneumonia. We should pay attention to the risk of developing IFDs in patients with severe liver diseases during clinical management. Particularly, early diagnosis and proper treatment of IFDs are important in high-risk patients. These are vital to improving the prognosis of patients with severe liver diseases.

  18. Proportion of patients in the Uganda rheumatic heart disease ...

    African Journals Online (AJOL)

    Proportion of patients in the Uganda rheumatic heart disease registry with advanced ... of Cardiology guidelines on the management of valvular heart disease. ... disease that require surgical treatment yet they cannot access this therapy due to ... By Country · List All Titles · Free To Read Titles This Journal is Open Access.

  19. Factors associated with gastro-duodenal disease in patients ...

    African Journals Online (AJOL)

    Background: There is a high prevalence of gastro-duodenal disease in sub Saharan Africa. Peptic ulcer disease in dyspeptic patients, 24.5%, was comparable to prevalence of gastro-duodenal disease among symptomatic individuals in developed countries (12 – 25%). Limited data exists regarding its associated risk ...

  20. Periodontal disease in diabetic patients - clinical and histopathological aspects.

    Science.gov (United States)

    Corlan Puşcu, Dorina; Ciuluvică, Radu Constantin; Anghel, Andreea; Mălăescu, Gheorghe Dan; Ciursaş, Adina Nicoleta; Popa, Gabriel Valeriu; Agop Forna, Doriana; Busuioc, Cristina Jana; Siloşi, Izabela

    2016-01-01

    Periodontal disease is one of the most frequent diseases affecting people all over the world. The relation between periodontal disease and diabetes mellitus raised the interest both of dentists and doctors treating metabolic diseases, as the two conditions influence one another. In our study, we analyzed a number of 75 patients with diabetes mellitus and periodontal disease that presented to the medical consultory for conditions of the dental maxillary system. The clinical study showed that periodontal disease and diabetes may affect young adults as well, still this pathological association more frequently appears after the age of 50. The disease was identified especially in the women living in urban area. The clinical examination of the dental maxillary system identified the presence of gingival ulcerations, dental calculus, gingival bleeding, radicular leftovers with anfractuous margins, fixed prostheses with an inappropriate cervical adjustment. Of the systemic diseases associated to periodontal disease and diabetes mellitus, there was observed that 66.66% of the patients also suffered from cardiovascular diseases (high blood pressure, ischemic cardiopathy, heart failure), and 37.33% suffered from obesity. The histopathological and immunohistochemical tests highlighted the presence of an inflammatory chronic, intense reaction, mainly formed of lymphocytes, plasmocytes, macrophages and granulocytes, heterogeneously disseminated and alteration of the structure of marginal and superficial periodontium. The inflammatory reaction in the patients with periodontal disease and diabetes was more intense than in the patients with periodontal disease without diabetes.

  1. Hormones and arterial stiffness in patients with chronic kidney disease.

    Science.gov (United States)

    Gungor, Ozkan; Kircelli, Fatih; Voroneanu, Luminita; Covic, Adrian; Ok, Ercan

    2013-01-01

    Cardiovascular disease constitutes the major cause of mortality in patients with chronic kidney disease. Arterial stiffness is an important contributor to the occurrence and progression of cardiovascular disease. Various risk factors, including altered hormone levels, have been suggested to be associated with arterial stiffness. Based on the background that chronic kidney disease predisposes individuals to a wide range of hormonal changes, we herein review the available data on the association between arterial stiffness and hormones in patients with chronic kidney disease and summarize the data for the general population.

  2. Osteoporosis in chronic obstructive pulmonary disease patients

    DEFF Research Database (Denmark)

    Jørgensen, Niklas Rye; Schwarz, Peter

    2008-01-01

    The purpose of this review is to examine the state of knowledge and clinical practice in the association of chronic obstructive pulmonary disease to osteoporosis and fracture incidence.......The purpose of this review is to examine the state of knowledge and clinical practice in the association of chronic obstructive pulmonary disease to osteoporosis and fracture incidence....

  3. Factors contributing to malnutrition in patients with Parkinson's disease.

    Science.gov (United States)

    Kim, Sung R; Chung, Sun J; Yoo, Sung-Hee

    2016-04-01

    Our objective in this study was to evaluate the nutritional status and to identify clinical, psychosocial, and nutritional factors contributing to malnutrition in Korean patients with Parkinson's disease. We used a descriptive, cross-sectional study design. Of 102 enrolled patients, 26 (25.5%) were malnourished and 27 (26.5%) were at risk of malnutrition based on Mini-Nutritional Assessment scores. Malnutrition was related to activity of daily living score, Hoehn and Yahr stage, duration of levodopa therapy, Beck Depression Inventory and Spielberger's Anxiety Inventory scores, body weight, body weight at onset of Parkinson's disease, and body mass index. On multiple logistic regression analysis, anxiety score, duration of levodopa therapy, body weight at onset of Parkinson's disease, and loss of body weight were significant factors predicting malnutrition in Parkinson's disease patients. Therefore, nutritional assessment, including psychological evaluation, is required for Parkinson's disease patients to facilitate interdisciplinary nutritional intervention for malnourished patients. © 2014 John Wiley & Sons Australia, Ltd.

  4. Medications Used for Cognitive Enhancement in Patients With Schizophrenia, Bipolar Disorder, Alzheimer's Disease, and Parkinson's Disease.

    Science.gov (United States)

    Hsu, Wen-Yu; Lane, Hsien-Yuan; Lin, Chieh-Hsin

    2018-01-01

    Cognitive impairment, which frequently occurs in patients with schizophrenia, bipolar disorder, Alzheimer's disease, and Parkinson's disease, has a significant impact on the daily lives of both patients and their family. Furthermore, since the medications used for cognitive enhancement have limited efficacy, the issue of cognitive enhancement still remains a clinically unsolved challenge. We reviewed the clinical studies (published between 2007 and 2017) that focused on the efficacy of medications used for enhancing cognition in patients with schizophrenia, bipolar disorder, Alzheimer's disease, and Parkinson's disease. Acetylcholinesterase inhibitors and memantine are the standard treatments for Alzheimer's disease and Parkinson's disease. Some studies have reported selective cognitive improvement in patients with schizophrenia following galantamine treatment. Newer antipsychotics, including paliperidone, lurasidone, aripiprazole, ziprasidone, and BL-1020, have also been reported to exert cognitive benefits in patients with schizophrenia. Dopaminergic medications were found to improve language function in patients with Parkinson's disease. However, no beneficial effects on cognitive function were observed with dopamine agonists in patients with schizophrenia. The efficacies of nicotine and its receptor modulators in cognitive improvement remain controversial, with the majority of studies showing that varenicline significantly improved the cognitive function in schizophrenic patients. Several studies have reported that N -methyl-d-aspartate glutamate receptor (NMDAR) enhancers improved the cognitive function in patients with chronic schizophrenia. NMDAR enhancers might also have cognitive benefits in patients with Alzheimer's disease or Parkinson's disease. Raloxifene, a selective estrogen receptor modulator, has also been demonstrated to have beneficial effects on attention, processing speed, and memory in female patients with schizophrenia. Clinical trials with

  5. Epiretinal membrane removal in patients with Stargardt disease

    Directory of Open Access Journals (Sweden)

    Muna Bhende

    2015-01-01

    Full Text Available Epiretinal membranes (ERMs in Stargardt disease have been known to undergo spontaneous separation in children. Results of surgical intervention in adult patients with Stargardt disease have rarely been reported. A retrospective review of results of surgical intervention for ERM causing visual impairment in two adult patients of Stargardt disease was carried out. Both patients developed ERM in one eye during their follow-up period with the resultant drop in their preexisting visual acuity. Postsurgery, restoration of foveal contour with some improvement in visual acuity was observed in both patients. No adverse effect of surgery was noted.

  6. Celiac disease in patients with Williams-Beuren syndrome.

    Science.gov (United States)

    Mıhçı, Ercan; Nur, Banu Güzel; Berker-Karaüzüm, Sibel; Yılmaz, Aygen; Artan, Reha

    2015-01-01

    Celiac disease is an autoimmune, gastrointestinal disorder characterized by intolerance to the dietary grain protein gluten. An increased prevalence of celiac disease has been reported in Down syndrome and Turner syndrome, but there has been only few previous reports with respect to the association of celiac disease in Williams-Beuren syndrome. The aim of this study was to evaluate the frequency of celiac disease in our 24 Williams-Beuren syndrome patients. Gastrointestinal problems and celiac disease symptoms of patients were noted. All patients were analyzed by the titer of tissue transglutaminases IgA and IgG. HLA genotyping and intestinal biopsy was performed to the patients with positive serology. We also performed gluten free diet in the presence of compatible symptoms, serology, HLA genotyping and intestinal biopsy. In our study, two patients had positive tTG antibodies, but only one had positive biopsy finding for celiac disease. The frequency of celiac disease in patients with Williams-Beuren syndrome was estimated as 1/24 (4.1%). Though the number of participants in this study was limited, the results show that the frequency of celiac disease is higher in Williams-Beuren syndrome compared to the general population. We suggest that a high suspicion and testing for celiac disease should be recommended at certain intervals in all cases with Williams-Beuren syndrome to detect the cause of growth retardation and gastrointestinal problems.

  7. Transvascular lipoprotein transport in patients with chronic renal disease

    DEFF Research Database (Denmark)

    Jensen, Trine Krogsgaard; Nordestgaard, Børge Grønne; Feldt-Rasmussen, Bo

    2004-01-01

    BACKGROUND: While increased plasma cholesterol is a well-established cardiovascular risk factor in the general population, this is not so among patients with chronic renal disease. We hypothesized that the transvascular lipoprotein transport, in addition to the lipoprotein concentration in plasma......, determines the degree of atherosclerosis among patients with chronic renal disease. METHODS: We used an in vivo method for measurement of transvascular transport of low-density lipoprotein (LDL) in 21 patients with chronic renal disease and in 42 healthy control patients. Autologous 131-iodinated LDL...... was reinjected intravenously, and the 1-hour fractional escape rate was taken as index of transvascular transport. RESULTS: Transvascular LDL transport tended to be lower in patients with chronic renal disease than in healthy control patients [3.3 (95% CI 2.4-4.2) vs. 4.2 (3.7-4.2)%/hour; NS]. However...

  8. [The older patient with malignant diseases].

    Science.gov (United States)

    Buske, C; Hiddemann, W

    2007-11-01

    Most malignancies show a steep increase of incidence with growing age. Because of this age specific incidence and the general aging of the population in western industrial countries the number of elderly cancer patients continuously and rapidly increases. Despite this development elderly cancer patients are currently underrepresented in clinical trials. This is caused in part by the lack of a common definition of the elderly patient and by the fact that a part of the elderly patients suffers from co-morbidities, not allowing a more dose intense treatment in these patients. It is one of the key current challenges to compensate this deficit and to develop therapeutic concepts specifically for the elderly patients, taking the individual somatic, but also social situation and finally the quality and perspective of life of the elderly patient into account.

  9. Treatment of patients with minimal stage IIIA Hodgkin's disease

    International Nuclear Information System (INIS)

    Powlis, W.D.; Mauch, P.; Goffman, T.; Goodman, R.L.

    1987-01-01

    Treatment recommendations for patients with upper abdominal Stage IIIA Hodgkin's (III1A) disease have varied widely. The current study reports on a combined institutional retrospective review of 85 patients with surgically staged III1A Hodgkin's disease. Twenty-two patients received combined modality therapy (CMT), 36 patients were treated initially with total nodal irradiation (TNI), and 27 with mantle and para-aortic radiotherapy (MPA). Patients treated with CMT had an actuarial 8-year freedom from relapse (FFR) of 96% as compared to a FFR of 51% in TNI treated patients (p = 0.002), and a FFR of 54% in MPA treated patients (p = 0.004). Of the 11 relapses in MPA treated patients, 7 had a component of their failure in the untreated pelvic or inguinal nodes. The patients treated with CMT had an 8-year actuarial survival of 100% as compared to 79% in TNI treated patients (p = 0.055) and 78% in patients treated with MPA (p = 0.025). Histology and the number of splenic nodules were the most important prognostic variables. Patients with MC/LD histology and greater than or equal to 5 splenic nodules have a high risk of relapse (10/13) when treated with radiation alone (TNI or MPA). We recommend CMT for this group of patients. Patients with NS/LP histology and 1-4 splenic nodules represent a favorable subset of Stage III1A patients. Only 4/21 patients have relapsed and all 21 patients are currently alive without disease regardless of treatment. We currently feel that patients with Stage III1A Hodgkin's disease with NS/LP histology and splenic disease limited to 1-4 nodules are good candidates for MPA as an alternative to TNI or CMT

  10. [Vitamins and microelements in patients with chronic kidney disease].

    Science.gov (United States)

    Małgorzewicz, Sylwia; Jankowska, Magdalena; Kaczkan, Małgorzata; Czajka, Beata; Rutkowski, Bolesław

    2014-01-01

    The supply of vitamins and microelements in patients with chronic kidney disease (CKD) is very important and requires special attention. CKD patients presented deficiency of these substances in the diet and in organism, but also excess of fat-soluble vitamins or trace elements is observed. Studies indicate that deficiency of vitamins and antioxidants in diet and also enhanced oxidative stress are cause of many complications for example: accelerated process of arteriosclerosis in patients with chronic kidney disease.

  11. Disease management programs for CKD patients: the potential and pitfalls.

    Science.gov (United States)

    Rocco, Michael V

    2009-03-01

    Disease management describes the use of a number of approaches to identify and treat patients with chronic health conditions, especially those that are expensive to treat. Disease management programs have grown rapidly in the United States in the past several years. These programs have been established for patients with chronic kidney disease (CKD), but some have been discontinued because of the high cost of the program. Disease management programs for CKD face unique challenges. Identification of patients with CKD is hampered by incomplete use of the International Classification of Diseases, Ninth Revision (ICD-9) codes for CKD by physicians and the less than universal use of estimated glomerular filtration rate from serum creatinine measurements to identify patients with an estimated glomerular filtration rate less than 60 mL/min/1.73 m(2). CKD affects multiple organ systems. Thus, a comprehensive disease management program will need to manage each of these aspects of CKD. These multiple interventions likely will make a CKD disease management program more costly than similar disease management programs designed for patients with diabetes mellitus, congestive heart failure, or other chronic diseases. The lack of data that can be used to develop effective disease management programs in CKD makes it difficult to determine goals for the management of each organ system affected by CKD. Finally, long periods of observation will be needed to determine whether a particular disease management program is effective in not only improving patient outcomes, but also decreasing both resource use and health care dollars. This long-term observation period is contrary to how most disease management contracts are written, which usually are based on meeting goals during a 1- to 3-year period. Until these challenges are resolved, it likely will be difficult to maintain effective disease management programs for CKD.

  12. Pain Correlates with Sleep Disturbances in Parkinson's Disease Patients.

    Science.gov (United States)

    Fu, Yun-Ting; Mao, Cheng-Jie; Ma, Li-Jing; Zhang, Hui-Jun; Wang, Yi; Li, Jie; Huang, Jun-Ying; Liu, Jun-Yi; Liu, Chun-Feng

    2018-01-01

    Both sleep disorders and pain decrease quality of life in patients with Parkinson's disease (PD). However, little is known about the relationship between objective sleep disturbances and pain in patients with PD. This study aimed to (1) examine the clinical characteristics of pain in PD patients and (2) explore the correlation between pain and sleep disturbances in PD patients. Parkinson's disease patients (N = 144) underwent extensive clinical evaluations of motor and nonmotor symptoms and characteristics of pain. Overnight video-polysomnography was also conducted. Clinical characteristics and sleep parameters were compared between PD patients with or without pain. Pain was reported by 75 patients (52.1%), with 49 (65.3%) reporting pain of at least moderate severity. PD patients with pain were older and had longer disease duration, more severe PD symptoms as assessed by Hoehn and Yahr stage and the Unified Parkinson's Disease Rating Scale, and higher L-dopa equivalent daily dose compared with PD patients without pain. PD patients with pain also showed significantly decreased sleep efficiency (57.06% ± 15.84% vs. 73.80% ± 12.00%, P daily living, depressed mood, higher percentage of N1 sleep, and lower sleep efficiency were independent predictors of pain in patients with PD. Musculoskeletal pain is the most common type of pain in patients with PD. Disrupted sleep continuity, altered sleep architecture, depressed mood, and compromised activities of daily living may be associated with pain in patients with PD. © 2017 World Institute of Pain.

  13. Wolman disease in patients with familial hemophagocytic ...

    African Journals Online (AJOL)

    Solaf Elsayed

    2015-09-26

    Sep 26, 2015 ... Marine Gil b ... many inborn errors of metabolism and lysosomal storage diseases in which hemophagocytic ... The diagnosis of secondary HLH is usually made in association with infection by viruses, bacteria, fungi, or para-.

  14. Coronary artery disease in patients with cerebrovascular disease: a prospective study

    International Nuclear Information System (INIS)

    Rokey, R.; Rolak, L.A.; Harati, Y.; Kutka, N.; Verani, M.S.

    1984-01-01

    Coronary artery disease is the cause of death in most patients who have transient ischemic attacks or stroke. Evaluation for this condition is not routinely performed in such patients, and no prospective studies have been reported. We prospectively examined 50 consecutive patients with transient ischemic attacks or mild stroke to determine the prevalence and importance of coronary artery disease. All patients were examined by a cardiologist and underwent both exercise thallium-201 scintigraphy and exercise radionuclide ventriculography. Sixteen patients were suspected to have coronary artery disease on the basis of clinical evaluation. In 15 of these the was confirmed by the nuclear scans. The remaining 34 patients had no clinical evidence of heart disease, yet 14 had abnormal cardiac scans. Twenty of 22 patients with abnormal scans who underwent cardiac catheterization had significant coronary artery disease or a cardiomyopathy. The discovery of heart disease altered clinical management in 13 patients. Overall, 29 of 50 patients had significant coronary artery disease, compared with a 7% prevalence of the condition in other patients of similar age at the same institution

  15. Survival Analysis of Patients with End Stage Renal Disease

    Science.gov (United States)

    Urrutia, J. D.; Gayo, W. S.; Bautista, L. A.; Baccay, E. B.

    2015-06-01

    This paper provides a survival analysis of End Stage Renal Disease (ESRD) under Kaplan-Meier Estimates and Weibull Distribution. The data were obtained from the records of V. L. MakabaliMemorial Hospital with respect to time t (patient's age), covariates such as developed secondary disease (Pulmonary Congestion and Cardiovascular Disease), gender, and the event of interest: the death of ESRD patients. Survival and hazard rates were estimated using NCSS for Weibull Distribution and SPSS for Kaplan-Meier Estimates. These lead to the same conclusion that hazard rate increases and survival rate decreases of ESRD patient diagnosed with Pulmonary Congestion, Cardiovascular Disease and both diseases with respect to time. It also shows that female patients have a greater risk of death compared to males. The probability risk was given the equation R = 1 — e-H(t) where e-H(t) is the survival function, H(t) the cumulative hazard function which was created using Cox-Regression.

  16. Risk of primary biliary cirrhosis in patients with coeliac disease

    DEFF Research Database (Denmark)

    Sørensen, Henrik Toft; Thulstrup, Ane Marie; Blomqvist, P

    1999-01-01

    BACKGROUND: Several case reports, but only a few studies, have examined the coexistence of coeliac disease and primary biliary cirrhosis. AIM: To estimate the risk of primary biliary cirrhosis in two national cohorts of patients with coeliac disease in Denmark and Sweden. METHODS: Through record...... linkage all Danish patients hospitalised with coeliac disease were followed for possible occurrence of primary biliary cirrhosis from 1 January 1977 until 31 December 1992. All patients hospitalised with coeliac disease in Sweden from 1987 to 1996 were also followed in a separate analysis. RESULTS......: A total of 896 patients with coeliac disease were identified in Denmark with a median follow up period of 9.1 years for a total of 8040 person-years at risk. Two cases of primary biliary cirrhosis were observed where 0.07 were expected, giving a standardised incidence ratio of 27.6 (95% confidence...

  17. Analysis of electrocardiogram in chronic obstructive pulmonary disease patients.

    Science.gov (United States)

    Lazović, Biljana; Svenda, Mirjana Zlatković; Mazić, Sanja; Stajić, Zoran; Delić, Marina

    2013-01-01

    Chronic obstructive pulmonary disease is the fourth leading cause of mortality worldwide. It is defined as a persistent airflow limitation usually progressive and not fully reversible to treatment. The diagnosis of chronic obstructive pulmonary disease and severity of disease is confirmed by spirometry. Chronic obstructive pulmonary disease produces electrical changes in the heart which shows characteristic electrocardiogram pattern. The aim of this study was to observe and evaluate diagnostic values of electrocardiogram changes in chronic obstructive pulmonary disease patients with no other comorbidity. We analyzed 110 electrocardiogram findings in clinically stable chronic obstructive pulmonary disease patients and evaluated the forced expiratory volume in the first second, ratio of forces expiratory volume in the first second to the fixed vital capacity, chest radiographs and electrocardiogram changes such as p wave height, QRS axis and voltage, right bundle branch block, left bundle branch block, right ventricular hypertrophy, T wave inversion in leads V1-V3, S1S2S3 syndrome, transition zone in praecordial lead and QT interval. We found electrocardiogram changes in 64% patients, while 36% had normal electrocardiogram. The most frequent electrocardiogram changes observed were transition zone (76.36%) low QRS (50%) and p pulmonale (14.54%). Left axis deviation was observed in 27.27% patients. Diagnostic values of electrocardiogram in patients with chronic obstructive pulmonary disease suggest that chronic obstructive pulmonary disease patients should be screened electrocardiographically in addition to other clinical investigations.

  18. Adult Congenital Heart Disease Patients Experience Similar Symptoms of Disease Activity.

    Science.gov (United States)

    Cedars, Ari M; Stefanescu Schmidt, Ada; Broberg, Craig; Zaidi, Ali; Opotowsky, Alexander; Grewal, Jasmine; Kay, Joseph; Bhatt, Ami B; Novak, Eric; Spertus, John

    2016-03-01

    There is a lack of objective data on the symptoms characterizing disease activity among adults with congenital heart disease (ACHD). The purpose of this study was to elicit the most important symptoms from patients across the spectrum of ACHD and to examine whether reported symptoms were similar across the spectrum of ACHD as a foundation for creating a patient-reported outcome measure(s). We constructed a 39-item survey using input from physicians specializing in ACHD to assess the symptoms patients associate with disease activity. Patients (n=124) prospectively completed this survey, and the results were analyzed based on underlying anatomy and disease complexity. A confirmatory cohort of patients (n=40) was then recruited prospectively to confirm the validity of the initial data. When grouped based on underlying anatomy, significant differences in disease-related symptom rankings were found for only 6 of 39 symptoms. Six symptoms were identified which were of particular significance to patients, regardless of underlying anatomy. Patients with anatomy of great complexity experienced greater overall symptom severity than those with anatomy of low or moderate complexity, attributable exclusively to higher ranking of 5 symptoms. The second patient cohort had symptom experiences similar to those of the initial cohort, differing in only 5 of 39 symptoms. This study identified 6 symptoms relevant to patients across the spectrum of ACHD and remarkable homogeneity of patient experience, suggesting that a single disease-specific patient-reported outcome can be created for quality and outcome assessments. © 2016 American Heart Association, Inc.

  19. Abdominal fat and risk of coronary heart disease in patients with peripheral arterial disease

    NARCIS (Netherlands)

    Brouwer, Beate G.; Visseren, Frank L. J.; Stolk, Ronald P.; van der Graaf, Yolanda

    Objective: We investigated whether the presence of concomitant coronary heart disease (CHD) in patients with peripheral arterial disease (PAD) can be explained by intra-abdominal fat accumulation and compared different measures of adiposity as predictors of CHD in patients with PAD. Research Methods

  20. Thrombophilic Risk Factors in Patients With Inflammatory Bowel Disease.

    Science.gov (United States)

    Yazici, Ayten; Senturk, Omer; Aygun, Cem; Celebi, Altay; Caglayan, Cigdem; Hulagu, Sadettin

    2010-06-01

    Inflammatory bowel disease (IBD) patients have an increased risk for thromboembolism. The aim of this study was to assess the presence of thrombophilic risk factors in IBD patients and to assess the associations of these factors with disease activity. Forty-eight patients with IBD (24 ulcerative colitis, 24 Crohn's disease) and 40 matched healthy control individuals were enrolled. In addition to routine biochemical analysis, fasting blood samples were studied for prothrombin time (PT), activated partial thromboplastin time (aPTT), fibrinogen, protein-C, protein-S, antithrombin III, factor VII, factor VIII, D-dimer, vitamin B 12 , folic acid and homocysteine. Levels of erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), fibrinogen, D-dimer and the number of platelets were significantly higher in patients with IBD. When compared to control group, in patients with Crohn's disease serum homocystein levels were significantly higher (p = 0.025) while serum folic acid levels were significantly lower (p homocystein and the number of platelets were found to be significantly higher in Crohn's disease patients who were in active period of the disease. Thrombophilic defects are multifactorial and might be frequently seen in IBD patients. They might contribute to thrombotic complications of this disease.

  1. Addiction or pseudoaddiction in sickle cell disease patients: Time to ...

    African Journals Online (AJOL)

    Objective: The objective of this report is to highlight the background factors associated with opioid abuse among Sickle Cell Disease (SCD) patients. Patients: Eleven patients aged 13-53 years (mean, 26.1yrs) which included six female and five male were seen in the last six year at a tertiary health facility. The modes of ...

  2. Screening for anxiety disorders in patients with coronary artery disease

    NARCIS (Netherlands)

    Bunevicius, A.; Staniute, M.; Brozaitiene, J.; Pop, V.J.M.; Neverauskas, J.; Bunevicius, R.

    2013-01-01

    Background Anxiety disorders are prevalent and associated with poor prognosis in patients with coronary artery disease (CAD). However, studies examining screening of anxiety disorders in CAD patients are lacking. In the present study we evaluated the prevalence of anxiety disorders in patients with

  3. Colorectal cancer in patients with inflammatory bowel disease

    DEFF Research Database (Denmark)

    Andersen, Vibeke; Halfvarson, Jonas; Vogel, Ulla Birgitte

    2012-01-01

    The inflammatory bowel diseases (IBD), Crohn's disease (CD) and ulcerative colitis (UC), may be complicated by colorectal cancer (CRC). In a recent population-based cohort study of 47 347 Danish patients with IBD by Tine Jess and colleagues 268 patients with UC and 70 patients with CD developed C...... preventive strategies in order to avoid CRC in IBD patients. The achieved knowledge may also be relevant for other inflammation-associated cancers.......The inflammatory bowel diseases (IBD), Crohn's disease (CD) and ulcerative colitis (UC), may be complicated by colorectal cancer (CRC). In a recent population-based cohort study of 47 347 Danish patients with IBD by Tine Jess and colleagues 268 patients with UC and 70 patients with CD developed CRC...... during 30 years of observation. The overall risk of CRC among patients with UC and CD was comparable with that of the general population. However, patients diagnosed with UC during childhood or as adolescents, patients with long duration of disease and those with concomitant primary sclerosing...

  4. Cardiovascular disease in patients with end-stage renal disease on hemodialysis in a developing country

    Directory of Open Access Journals (Sweden)

    Leila S. V. Silva

    2012-01-01

    Full Text Available Cardiovascular disease is the main cause of death among patients with end-stage renal disease (ESRD. The present study was undertaken to identify the main cardiovascular diseases and their risk factors in 160 patients with ESRD on hemodialysis (HD in Brazil. Their mean age was 47 ± 39 years. The main risk factors for cardiovascular diseases were arterial hypertension (89.4%, dyslipidemia (78.3%, low high-density lipoprotein levels (84.2% and low physical activity (64.1%. Family history of coronary insufficiency and high low-density lipoprotein levels were significantly associated with coronary artery disease (P = 0.005 and P = 0.029, respectively. Sedentary life style, diabetes mellitus, secondary hyperparathyroidism and hyperglycemia also showed a significant association with the underlying vascular disease (P = 0.017, P = 0.039, P = 0.037 and P = 0.030, respectively. Hypercalcemia, hypertension and black race were factors significantly associated with left ventricular systolic dysfunction (P = 0.01, P = 0.0013 and P = 0.024, respectively. Our study shows that the most prevalent cardiovascular diseases in patients with ESRD were left ventricular hypertrophy, atherosclerotic disease, valvular disease and coronary artery disease. Hypertension and dyslipidemia were the common risk factors associated with cardiovascular diseases. The present study was undertaken to identify the main cardiovascular diseases and their risk factors in 160 patients with ESRD on HD in a single center in Brazil.

  5. String corrections to circular Wilson loop and anomalies

    Science.gov (United States)

    Cagnazzo, Alessandra; Medina-Rincon, Daniel; Zarembo, Konstantin

    2018-02-01

    We study string quantum corrections to the ratio of latitude and circular Wilson loops in N = 4 super-Yang-Mills theory at strong coupling. Conformal gauge for the corresponding minimal surface in AdS5 × S 5 is singular and we show that an IR anomaly associated with the divergence in the conformal factor removes previously reported discrepancy with the exact field-theory result. We also carefully check conformal anomaly cancellation and recalculate fluctuation determinants by directly evaluting phaseshifts for all the fluctuation modes.

  6. [Wilson's principles--a base of modern teratology].

    Science.gov (United States)

    Burdan, Franciszek; Bełzek, Artur; Szumiło, Justyna; Dudka, Jarosław; Korobowicz, Agnieszka; Tokarska, Edyta; Klepacz, Lidia; Bełzek, Marta; Klepacz, Robert

    2006-03-01

    Wilson's principles were formulated after thalidomide tragedy. They become a fundamental for teratological studies with drugs and other factors that may disturb fetal development. It is postulated that susceptibility to teratogen depends on the genotype and developmental stage of the conceptus. Teratogenic agents act in specific manner on developing cells and tissues. The exposition depends on the agent's nature and availability. Manifestations of deviant development depends on the dosage and exposure frequency. In case of abnormal development the final manifestations include death of embryo or fetus, malformation, growth retardation and functional disorder.

  7. Adaptive Multigrid Algorithm for the Lattice Wilson-Dirac Operator

    International Nuclear Information System (INIS)

    Babich, R.; Brower, R. C.; Rebbi, C.; Brannick, J.; Clark, M. A.; Manteuffel, T. A.; McCormick, S. F.; Osborn, J. C.

    2010-01-01

    We present an adaptive multigrid solver for application to the non-Hermitian Wilson-Dirac system of QCD. The key components leading to the success of our proposed algorithm are the use of an adaptive projection onto coarse grids that preserves the near null space of the system matrix together with a simplified form of the correction based on the so-called γ 5 -Hermitian symmetry of the Dirac operator. We demonstrate that the algorithm nearly eliminates critical slowing down in the chiral limit and that it has weak dependence on the lattice volume.

  8. Wilson Fermions and Axion Electrodynamics in Optical Lattices

    International Nuclear Information System (INIS)

    Bermudez, A.; Martin-Delgado, M. A.; Mazza, L.; Rizzi, M.; Goldman, N.; Lewenstein, M.

    2010-01-01

    We show that ultracold Fermi gases in optical superlattices can be used as quantum simulators of relativistic lattice fermions in 3+1 dimensions. By exploiting laser-assisted tunneling, we find an analogue of the so-called naive Dirac fermions, and thus provide a realization of the fermion doubling problem. Moreover, we show how to implement Wilson fermions, and discuss how their mass can be inverted by tuning the laser intensities. In this regime, our atomic gas corresponds to a phase of matter where Maxwell electrodynamics is replaced by axion electrodynamics: a 3D topological insulator.

  9. Topology, the Wilson flow and the HMC algorithm

    CERN Document Server

    Luscher, Martin

    2010-01-01

    An old and apparently persistent problem in numerical lattice QCD is that the simulations tend to get trapped in a sector of fixed topological charge when the lattice spacing is taken to zero. The effect sets in very rapidly and may invalidate the simulation results in certain cases. In this talk, the issue is discussed using the Wilson flow as a tool. The flow has a simple scaling behaviour and allows one to understand how exactly the topological sectors emerge in the continuum limit. Further studies however suggest that the observed slowdown of the simulations at small lattice spacings is only partly caused by the emergence of the sectors.

  10. Syndrome parkinsonien secondaire à une maladie de Wilson chez ...

    African Journals Online (AJOL)

    Nous apportons une observation d'un cas de la maladie de Wilson, révélé par un syndrome parkinsonien. Le diagnostic a reposé sur les troubles neuropsychiques, la présence de l'anneau cornéen de Kayser-Fleischer, et les troubles du métabolisme du cuivre. Le scanner cérébral était normal, et l'IRM cérébrale a montré ...

  11. Parallel tempering in full QCD with Wilson fermions

    International Nuclear Information System (INIS)

    Ilgenfritz, E.-M.; Kerler, W.; Mueller-Preussker, M.; Stueben, H.

    2002-01-01

    We study the performance of QCD simulations with dynamical Wilson fermions by combining the hybrid Monte Carlo algorithm with parallel tempering on 10 4 and 12 4 lattices. In order to compare tempered with standard simulations, covariance matrices between subensembles have to be formulated and evaluated using the general properties of autocorrelations of the parallel tempering algorithm. We find that rendering the hopping parameter κ dynamical does not lead to an essential improvement. We point out possible reasons for this observation and discuss more suitable ways of applying parallel tempering to QCD

  12. Critical behavior of the Schwinger model with Wilson fermions

    International Nuclear Information System (INIS)

    Azcoiti, V.; Laliena, V.

    1995-09-01

    A detailed analysis, in the framework of the MFA approach, of the critical behaviour of the lattice Schwinger model with Wilson fermions on lattices up to 24 2 , through the study of the Lee-Yang zeros and the specific heat, is presented. Compelling evidence is found for a critical line ending at k= 0.25 at large β. Finite size scaling analysis on lattices 8 2 , 12 2 , 16 2 , 20 2 and 24 2 indicates a continuous transition. The hyper scaling relation is verified in the explored β region

  13. Dual conformal transformations of smooth holographic Wilson loops

    Energy Technology Data Exchange (ETDEWEB)

    Dekel, Amit [Nordita, KTH Royal Institute of Technology and Stockholm University, Roslagstullsbacken 23, SE-106 91 Stockholm (Sweden)

    2017-01-19

    We study dual conformal transformations of minimal area surfaces in AdS{sub 5}×S{sup 5} corresponding to holographic smooth Wilson loops and some other related observables. To act with dual conformal transformations we map the string solutions to the dual space by means of T-duality, then we apply a conformal transformation and finally T-dualize back to the original space. The transformation maps between string solutions with different boundary contours. The boundary contours of the minimal surfaces are not mapped back to the AdS boundary, and the regularized area of the surface changes.

  14. Light quark masses with Nf = 2 Wilson fermions

    International Nuclear Information System (INIS)

    Eicker, N.; Lippert, Th.; Orth, B.; Schilling, K.

    2002-01-01

    We present new data on the mass of the light and strange quarks from SESAM/TχL. The results were obtained on lattice-volumes of 16 3 x 32 and 24 3 x 40 points, with the possibility to investigate finite-size effects. Since the SESAM/TχL ensembles at β = 5.6 have been complemented by configurations with β = 5.5, moreover, we are now able to attempt the continuum extrapolation (CE) of the quark masses with standard Wilson fermions

  15. Surface representations of Wilson loop expectations in lattice gauge theory

    International Nuclear Information System (INIS)

    Brydges, D.C.; Giffen, C.; Durhuus, B.; Froehlich, J.

    1986-01-01

    Expectations of Wilson loops in lattice gauge theory with gauge group G=Z 2 , U(1) or SU(2) are expressed as weighted sums over surfaces with boundary equal to the loops labelling the observables. For G=Z 2 and U(1), the weights are all positive. For G=SU(2), the weights can have either sign depending on the Euler characteristic of the surface. Our surface (or flux sheet-) representations are partial resummations of the strong coupling expansion and provide some qualitative understanding of confinement. The significance of flux sheets with nontrivial topology for permanent confinement in the SU(2)-theory is elucidated. (orig.)

  16. Celiac Disease in Patients with Cystic Fibrosis-Related Bone Disease

    Directory of Open Access Journals (Sweden)

    Melissa S. Putman

    2017-01-01

    Full Text Available Both cystic fibrosis (CF and celiac disease can cause low bone mineral density (BMD and fractures. Celiac disease may occur at a higher frequency in patients with CF than the general population, and symptoms of these conditions may overlap. We report on two patients presenting with CF-related bone disease in the past year who were subsequently found to have concurrent celiac disease. Because adherence to a gluten-free diet may improve BMD in patients with celiac disease, this could have important implications for treatment. Clinicians should consider screening for celiac disease in patients with CF who have low BMD, worsening BMD in the absence of other risk factors, and/or difficult to treat vitamin D deficiency.

  17. Disease trajectories in nursing home patients.

    NARCIS (Netherlands)

    Husebo, B.S.; Hylen Randhoff, A.; Sandvik, R.; Omland, G.; Gysels, M.; Francke, A.; Hertogh, C.; Ribbe, M.; Deliens, L.

    2011-01-01

    Research aims: About 17 500 patients die in Norwegian nursing homes (NH) every year, 14-27% of these patients have diagnoses of cancer, 75% heart failure, and 80% dementia. Little is known about their last months and days regarding medical treatment, needs for multi-professional care, advance

  18. The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study

    Directory of Open Access Journals (Sweden)

    Kultigin Turkmen

    2016-12-01

    Full Text Available Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fabry disease in CKD patients not receiving renal replacement therapy. Methods: This prospective study assessed α-galactosidase activity in dried blood spots in 313 stage 1-5 CKD patients, 167 males, between ages of 18-70 years whose etiology of CKD was unknown and were not receiving renal replacement therapy. The diagnosis was confirmed by GLA gene mutation analysis. Results: Three (all males of 313 CKD patients (0.95% were diagnosed of Fabry disease, for a prevalence in males of 1.80%. Family screening identified 8 aditional Fabry patients with CKD. Of a total of 11 Fabry patients, 7 were male and started enzyme replacement therapy and 4 were female. The most frequent manifestations in male patients were fatigue (100%, tinnitus, vertigo, acroparesthesia, hypohidrosis, cornea verticillata and angiokeratoma (all 85%, heat intolerance (71%, and abdominal pain (57%. The most frequent manifestations in female patients were fatigue and cornea verticillata (50%, and tinnitus, vertigo and angiokeratoma (25%. Three patients had severe episodic abdominal pain attacks and proteinuria, and were misdiagnosed as familial Mediterranean fever. Conclusions: The prevalence of Fabry disease in selected CKD patients is in the range found among renal replacement therapy patients, but the disease is diagnosed at an earlier, treatable stage. These data support the ERBP recommendation to screen for Fabry disease in patients with CKD of unknown origin.

  19. Novel combined management approaches to patients with diabetes, chronic kidney disease and cardiovascular disease.

    Science.gov (United States)

    Spaak, J

    2017-03-01

    Most patients we care for today suffer from more than one chronic disease, and multimorbidity is a rapidly growing challenge. Concomitant cardiovascular disease, renal dysfunction and diabetes represent a large proportion of all patients in cardiology, nephrology and diabetology. These entities commonly overlap due to their negative effects on vascular function and an accelerated atherosclerosis progression. At the same time, a progressive subspecialisation has caused the cardiologist to treat 'only' the heart, nephrologists 'only' the kidneys and endocrinologists' 'only' diabetes. Studies and guidelines follow the same pattern. This often requires patients to visit specialists for each field, with a risk of both under-diagnosis and under-treatment. From the patient's perspective, there is a great need for coordination and facilitation of the care, not only to reduce disease progression but also to improve quality of life. Person-centred integrated clinics for patients with cardiovascular disease, renal dysfunction and diabetes are a promising approach for complex chronic disease management.

  20. [Consumer surveys among hospitalized patients with lung disease].

    Science.gov (United States)

    Humborstad, O T; Omenaas, E; Gulsvik, A

    2001-03-30

    The aim of our survey was to record the experiences of hospitalised patients with respiratory diseases in order to create a more patient-friendly department. Our study included 609 patients (response rate 70%) with a median age of 64 years (range 13-91) who were discharged from the Department of Thoracic Medicine, Haukeland University Hospital in October 1991, 1992, 1994, 1995 and 1996. 268 patients had obstructive lung disease, 82 had lung cancer. They answered a questionnaire with 24 questions. Patient reception to the ward and staff knowledge of the patients' illnesses, were for the physicians rated as good or better by 92% and 79% and for the nurses by 94% and 70% respectively. 16% of the patients experienced insecurity, 17% anxiety, 12% helplessness, 9% loneliness and 12% little say in the decision making process. Trend factors for these emotional experiences were female sex, old age, obstructive lung disease and long stay in hospital. Patients aged 50 to 69 years and patients with lung cancer had the lowest rate of negative emotional experiences. Despite staff awareness of the prevalence and of the patients' emotional experiences and the risk factors involved, there was no clear reduction of negative experiences in the later surveys compared to the first survey. Patients in a university hospital with respiratory diseases showed unchanged experiences of health care and personal emotions in repeated surveys over a period of five years.

  1. Nonmotor symptoms in patients suffering from motor neuron diseases

    Directory of Open Access Journals (Sweden)

    Rene Günther

    2016-07-01

    Full Text Available Background: The recently postulated disease spreading hypothesis has gained much attention, especially for Parkinson’s disease (PD. The various nonmotor symptoms (NMS in neurodegenerative diseases would be much better explained by this hypothesis than by the degeneration of disease-specific cell populations. Motor neuron disease (MND is primarily known as a group of diseases with a selective loss of motor function. Recent evidence, however, suggests disease spreading into nonmotor brain regions also in MND. The aim of this study was to comprehensively detect NMS in patients suffering from MND.Methods: We used a self-rating questionnaire including 30 different items of gastrointestinal, autonomic, neuropsychiatric and sleep complaints (NMSQuest which is an established tool in PD patients. 90 MND patients were included and compared to 96 controls.Results: In total, MND patients reported significantly higher NMS scores (median: 7 points in comparison to controls (median: 4 points. Dribbling, impaired taste/smelling, impaired swallowing, weight loss, loss of interest, sad/blues, falling and insomnia were significantly more prevalent in MND patients compared to controls. Interestingly excessive sweating was more reported in the MND group. Correlation analysis revealed an increase of total NMS score with disease progression.Conclusions: NMS in MND patients seemed to increase with disease progression which would fit with the recently postulated disease spreading hypothesis. The total NMS score in the MND group significantly exceeded the score for the control group, but only 8 of the 30 single complaints of the NMSQuest were significantly more often reported by MND patients. Dribbling, impaired swallowing, weight loss and falling could primarily be connected to motor neuron degeneration and declared as motor symptoms in MND.

  2. Clinical impact of exercise in patients with peripheral arterial disease.

    Science.gov (United States)

    Novakovic, Marko; Jug, Borut; Lenasi, Helena

    2017-08-01

    Increasing prevalence, high morbidity and mortality, and decreased health-related quality of life are hallmarks of peripheral arterial disease. About one-third of peripheral arterial disease patients have intermittent claudication with deleterious effects on everyday activities, such as walking. Exercise training improves peripheral arterial disease symptoms and is recommended as first line therapy for peripheral arterial disease. This review examines the effects of exercise training beyond improvements in walking distance, namely on vascular function, parameters of inflammation, activated hemostasis and oxidative stress, and quality of life. Exercise training not only increases walking distance and physiologic parameters in patients with peripheral arterial disease, but also improves the cardiovascular risk profile by helping patients achieve better control of hypertension, hyperglycemia, obesity and dyslipidemia, thus further reducing cardiovascular risk and the prevalence of coexistent atherosclerotic diseases. American guidelines suggest supervised exercise training, performed for a minimum of 30-45 min, at least three times per week, for at least 12 weeks. Walking is the most studied exercise modality and its efficacy in improving cardiovascular parameters in patients with peripheral arterial disease has been extensively proven. As studies have shown that supervised exercise training improves walking performance, cardiovascular parameters and quality of life in patients with peripheral arterial disease, it should be encouraged and more often prescribed.

  3. POLYCYSTIC KIDNEY DISEASE IN A PATIENT WITH ...

    African Journals Online (AJOL)

    hi-tech

    2003-01-01

    Jan 1, 2003 ... bossing with a depressed nasal bridge, bowing of the lower extremeties, trident hands, lumbar lordosis, ... cystic enlargement, is one of the most common dominantly inherited conditions and is an important ... addition to other autosomal dominant inherited diseases like tuberous sclerosis and von Hippel- ...

  4. Management of patients with chronic kidney disease

    African Journals Online (AJOL)

    This article deals with these aspects, including follow-up guidelines and management and treatment ... those with ischaemic heart disease also require cardiac review at least once a year. .... doses when fluid losses are high, e.g. sweating in hot environments, ... dried beans, lentils, offal, salmon, chocolate, cola drinks and.

  5. Heart disease in patients with osteogenesis imperfecta

    DEFF Research Database (Denmark)

    Ashournia, Hamoun; Johansen, Frank Ted; Folkestad, Lars

    2015-01-01

    INTRODUCTION: Osteogenesis imperfecta (OI) is a rare, inherited systemic connective tissue disease that causes decreased bioavailability of collagen type 1. Collagen type 1 is the most abundant connective tissue in the body and a key part of many organs. While the bone phenotype in OI is well des...

  6. Wolman disease in patients with familial hemophagocytic ...

    African Journals Online (AJOL)

    Major signs and symptoms include hepatomegaly, splenomegaly, anemia, leucopenia or thrombocytopenias which resemble many inborn errors of metabolism and lysosomal storage diseases in which hemophagocytic lymphohistiocytosis has also been reported as a secondary association. Case reports: We report three ...

  7. Rare disease patients in China anticipate the sunlight of legislation.

    Science.gov (United States)

    Gao, J J; Song, P P; Tang, W

    2013-06-01

    It is estimated that there are over ten million rare disease patients in China currently. Due to a lack of effective drugs and reimbursement regulations for medical expenses the diseases bring most patients enormous physical suffering and psychological despair. Past experience in other countries such as the United States, Japan, and the European Union have shown that legislation is the critical step to improve the miserable situation of rare disease patients. Laws and regulations for rare diseases in these countries prescribe a series of incentives for research and development of orphan drugs which turn out to obviously allow these drugs to flourish. Legislation has also established a drug reimbursement system to reduce the medical burden of the patients. These measures effectively protect the rights and interests of patients with rare diseases. In China, legislation for rare diseases has begun to attract the attention of authorities. It is anticipated that relevant laws and regulations will be established as early as possible to provide safeguards for rare disease patients in China.

  8. Left ventricular diastolic function in patients with coronary artery disease

    International Nuclear Information System (INIS)

    Brugger, P.T.

    1986-01-01

    In 302 patients with confirmed coronary disease we determined the left ventricular diastolic function with the Nuclear Stethoscope by the aid of the Peak Filling Rate (PFR) and the Time to Peak Filling Rate (TPFR). Moreover we investigated the ejection fraction (EF). 201 patients had already suffered a myocardial infarction, of these 99 an anterior wall and 102 an inferior wall infarction. The remaining 101 patients had a CAD without a history of myocardial infarction. The PFR was 2.19 ± 0.65 EDV/sec in the 99 patients after anterior wall infarction and 2.62 ± 0.85 EDV/sec in the 102 patients after inferior wall infarction and 2.79 ± 0.85 EDV/sec in 101 patients with coronary artery disease without a history of myocardial infarction. For the PFR there could be found a statistically significant difference between normal patients and patients after anterior wall infarction (p [de

  9. Neurological symptoms in patients with biopsy proven celiac disease.

    Science.gov (United States)

    Bürk, Katrin; Farecki, Marie-Louise; Lamprecht, Georg; Roth, Guenter; Decker, Patrice; Weller, Michael; Rammensee, Hans-Georg; Oertel, Wolfang

    2009-12-15

    In celiac disease (CD), the gut is the typical manifestation site but atypical neurological presentations are thought to occur in 6 to 10% with cerebellar ataxia being the most frequent symptom. Most studies in this field are focused on patients under primary neurological care. To exclude such an observation bias, patients with biopsy proven celiac disease were screened for neurological disease. A total of 72 patients with biopsy proven celiac disease (CD) (mean age 51 +/- 15 years, mean disease duration 8 +/- 11 years) were recruited through advertisements. All participants adhered to a gluten-free diet. Patients were interviewed following a standard questionnaire and examined clinically for neurological symptoms. Medical history revealed neurological disorders such as migraine (28%), carpal tunnel syndrome (20%), vestibular dysfunction (8%), seizures (6%), and myelitis (3%). Interestingly, 35% of patients with CD reported of a history of psychiatric disease including depression, personality changes, or even psychosis. Physical examination yielded stance and gait problems in about one third of patients that could be attributed to afferent ataxia in 26%, vestibular dysfunction in 6%, and cerebellar ataxia in 6%. Other motor features such as basal ganglia symptoms, pyramidal tract signs, tics, and myoclonus were infrequent. 35% of patients with CD showed deep sensory loss and reduced ankle reflexes in 14%. Gait disturbances in CD do not only result from cerebellar ataxia but also from proprioceptive or vestibular impairment. Neurological problems may even develop despite strict adherence to a gluten-free diet. (c) 2009 Movement Disorder Society.

  10. Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.

    Science.gov (United States)

    Yeniçerioğlu, Yavuz; Akdam, Hakan; Dursun, Belda; Alp, Alper; Sağlam Eyiler, Funda; Akın, Davut; Gün, Yelda; Hüddam, Bülent; Batmazoğlu, Mehmet; Gibyeli Genek, Dilek; Pirinççi, Serhat; Ersoy, İsmail Rıfkı; Üzüm, Atilla; Soypaçacı, Zeki; Tanrısev, Mehmet; Çolak, Hülya; Demiral Sezer, Sibel; Bozkurt, Gökay; Akyıldız, Utku Oğan; Akyüz Ünsal, Ayşe İpek; Ünübol, Mustafa; Uslu, Meltem; Eryılmaz, Ufuk; Günel, Ceren; Meteoğlu, İbrahim; Yavaşoğlu, İrfan; Ünsal, Alparslan; Akar, Harun; Okyay, Pınar

    2017-11-01

    Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15-1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry's disease in chronic kidney disease. The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 μmol/L/h. A total of 1453 chronic kidney disease patients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3 ± 15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60 mL/min/1.73 m 2 , 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients' α-Gal A enzyme was detected as 2.93 ± 1.92 μmol/L/h. 152 patients had low levels of α-Gal A enzyme activity (≤1.2 μmol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry's disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female). Fabry's disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry's disease.

  11. Local anesthesia selection algorithm in patients with concomitant somatic diseases.

    Science.gov (United States)

    Anisimova, E N; Sokhov, S T; Letunova, N Y; Orekhova, I V; Gromovik, M V; Erilin, E A; Ryazantsev, N A

    2016-01-01

    The paper presents basic principles of local anesthesia selection in patients with concomitant somatic diseases. These principles are history taking; analysis of drugs interaction with local anesthetic and sedation agents; determination of the functional status of the patient; patient anxiety correction; dental care with monitoring of hemodynamics parameters. It was found that adhering to this algorithm promotes prevention of urgent conditions in patients in outpatient dentistry.

  12. Knowledge, Beliefs and Attitudes of Psoriasis Patients About the Disease

    Directory of Open Access Journals (Sweden)

    Aslı Küçükünal

    2013-05-01

    Full Text Available Background and Design: This study evaluates the patients’ knowledge, opinions and attitudes about psoriasis.Materials and Methods: A total of 111 patients over the age of 18, clinically and histopathologically diagnosed with chronic plaque-type psoriasis were included in the study. Patients who have psychiatric illness and inadequate intelligence were excluded. A questionnaire including items on knowledge, opinions and attitudes on psoriasis were filled out by the patients and the results were analyzed statistically.Results: One hundred-eleven (45 female, 66 male patients were included in our study. 6.3% of patients did not know the diagnosis of their disease. 68.5% of patients thought that psoriasis was a contagious disease while18% thought that psoriasis was a hereditary condition. 88.3% of patients declined that they were informed about the disease by the doctor. 62.2% of patients believed that they had adequate information about psoriasis. 51.4% of patients believed that doctors gave them enough information about psoriasis. 44.1% of patients knew that psoriasis was aggravated by stress while 38.7% did not know any of the aggravating factors of psoriasis. 70.3% of patients believed that psoriasis would spread if not treated. Patients mostly (98.2% had idea about topical treatment options. 82% of patients were afraid of having psoriasis on their face. 5.4% of patients were uncomfortable with the idea of their partners’ having psoriasis. 72.1%, 88.3%, 72.1% of patients reported no negative effect of psoriasis on their relations with friends, family members, work or school life, respectivelyDiscussion: Our results showed that psoriasis patients do not have adequate knowledge about the disease. We think that dermatologists should pay more attention to inform and raise awareness of patie

  13. Interest rates in quantum finance: the Wilson expansion and Hamiltonian.

    Science.gov (United States)

    Baaquie, Belal E

    2009-10-01

    Interest rate instruments form a major component of the capital markets. The Libor market model (LMM) is the finance industry standard interest rate model for both Libor and Euribor, which are the most important interest rates. The quantum finance formulation of the Libor market model is given in this paper and leads to a key generalization: all the Libors, for different future times, are imperfectly correlated. A key difference between a forward interest rate model and the LMM lies in the fact that the LMM is calibrated directly from the observed market interest rates. The short distance Wilson expansion [Phys. Rev. 179, 1499 (1969)] of a Gaussian quantum field is shown to provide the generalization of Ito calculus; in particular, the Wilson expansion of the Gaussian quantum field A(t,x) driving the Libors yields a derivation of the Libor drift term that incorporates imperfect correlations of the different Libors. The logarithm of Libor phi(t,x) is defined and provides an efficient and compact representation of the quantum field theory of the Libor market model. The Lagrangian and Feynman path integrals of the Libor market model of interest rates are obtained, as well as a derivation given by its Hamiltonian. The Hamiltonian formulation of the martingale condition provides an exact solution for the nonlinear drift of the Libor market model. The quantum finance formulation of the LMM is shown to reduce to the industry standard Bruce-Gatarek-Musiela-Jamshidian model when the forward interest rates are taken to be exactly correlated.

  14. Frequency of undiagnosed chronic obstructive pulmonary disease in patients with coronary artery disease

    International Nuclear Information System (INIS)

    Ullah, R.; Ghaffar, T.; Khan, I.; Muhammad, R.; Salman, S.

    2017-01-01

    Chronic obstructive airway disease (COPD) is considered as risk factor for coronary artery disease (CAD) along with other risk factors. This study was conducted to determine the frequency of undiagnosed chronic obstructive pulmonary disease in patients with coronary artery disease. Methods: This cross-sectional study was conducted in the Pulmonology and Cardiology wards/OPD's of Khyber Teaching Hospital Peshawar. Patients more than 35 years of age, diagnosed with CAD of either gender were included. Patients already diagnosed with COPD, recent myocardial infarction (within 7 days), left ventricular impairment, pneumothorax, bronchiectasis, comatose patient, asthmatic and those with chest trauma were excluded. All the patients underwent spirometry examination before and after administration of salbutamol (5 mg for 5 minutes) via nebulizer. FEV1/FVC less than 70% confirmed the presence of COPD. Results: Out of 151 patients, 57 (37.7%) were found to have COPD. Among them, 39 (68.42%) were male and 18 (31.57%) were female. Among male patients with COPD, 82.05% (n=32) were smokers and 17.94% (n=7) were nonsmokers while in females with COPD no one was smoker. Conclusion: COPD is an under-diagnosed progressive disease in patients with high risk patients with coronary artery disease. (author)

  15. Impaired vascular reactivity in patients with chronic kidney disease

    DEFF Research Database (Denmark)

    Tetzner, Fabian; Scholze, Alexandra; Wittstock, Antje

    2008-01-01

    Patients with chronic kidney disease (CKD) show increased cardiovascular morbidity. We hypothesized that vascular properties which can be routinely evaluated noninvasively are related to different stages of CKD and their clinical and biochemical characteristics....

  16. Utilizing a disease management approach to improve ESRD patient outcomes.

    Science.gov (United States)

    Anand, Shaan; Nissenson, Allen R

    2002-01-01

    In this era of processes and systems to improve quality, disease management is one methodology to improve care delivery and outcomes for patients with chronic kidney disease (CKD). In most disease management systems a senior renal nurse coordinates all aspects of the patient's care and ensures that the prescribed and necessary care is delivered for both CKD-related and comorbid conditions. The nurse also continually monitors outcomes on quality indicators and key performance measures. These outcome data are then aggregated and analyzed, are compared with local and national benchmarks, and drive the continuous quality improvement (CQI) process. Such a system attempts to centralize the currently fragmented care delivery system, continually improve patient outcomes, and conserve scarce economic resources. Early data suggest a disease management approach may improve both the morbidity and mortality of CKD patients.

  17. Generalized Vitiligo Associated Autoimmune Diseases in Japanese Patients Their Families

    Directory of Open Access Journals (Sweden)

    Tomohiko Narita

    2011-01-01

    Conclusions: Among Japanese vitiligo patients, there is a subgroup with strong evidence of genetically determined susceptibility to not only vitiligo, but also to autoimmune thyroid disease and other autoimmune disorders.

  18. Proportion of patients in the Uganda rheumatic heart disease ...

    African Journals Online (AJOL)

    . The optimum management strategy was determined according to the 2012 European Society of Cardiology guidelines on the management of valvular heart disease. Results: Out of the 551 patient's records evaluated, 398 (72.3%) required ...

  19. Hypoglycemia in Patients with Diabetes and Renal Disease

    Directory of Open Access Journals (Sweden)

    Mazen Alsahli

    2015-05-01

    Full Text Available This article summarizes our current knowledge of the epidemiology, pathogenesis, and morbidity of hypoglycemia in patients with diabetic kidney disease and reviews therapeutic limitations in this situation.

  20. Suicide and patients with neurologic diseases. Methodologic problems

    DEFF Research Database (Denmark)

    Stenager, E N; Stenager, Egon

    1992-01-01

    OBJECTIVE: The suicide risk in patients with many neurologic diseases has been reported to be greater than that in the general population. Studies on the subject are, however, often encumbered with methodologic problems. We appraised these problems and, based on an evaluation, reappraised knowledge...... of the suicide risk in patients with specific neurologic diseases. DATA SOURCE: Using the computerized database MEDLINE, we identified all published reports with the key words suicide, attempted suicide, and neurologic diseases. STUDY SELECTION: We assessed and reviewed studies concerning the most common...... of the studies, the methods used gave rise to uncertainty about the conclusion presented. CONCLUSION: An increased suicide risk was found in patients suffering from multiple sclerosis and spinal cord lesions as well as in selected groups of patients with epilepsy. In other neurologic diseases, the suicide risk...

  1. Steroid allergy in patients with inflammatory bowel disease.

    LENUS (Irish Health Repository)

    Malik, M

    2007-11-01

    Background: Contact allergy to a steroid enema leading to worsening of inflammatory bowel disease (IBD) has recently been reported. This study was designed to look for evidence of steroid allergy in patients with IBD.

  2. Study of cardiovascular diseases in hospitalized AECOPD patients

    Directory of Open Access Journals (Sweden)

    Mohamed El-Shabrawy

    2017-01-01

    Conclusions: The prevalence of cardiovascular diseases (CVD in patients hospitalized for COPD in Zagazig University Hospital was high. Age, sex and CVD trends, as well as life style changes, should be considered when prevention and control strategies are formulated.

  3. Pregnancy Outcome among Patients with Sickle Cell Disease in Jos

    African Journals Online (AJOL)

    Zamzar

    The antenatal complications included anaemia (62.9%), vaso-oclusive. (bone pain) ... Conclusion: Pregnancy in sickle cell disease patients is associated with high maternal and perinatal morbidity .... and malaria (25.7%) were other common.

  4. Towards safer surgery in patients with sickle cell disease

    International Nuclear Information System (INIS)

    Meshikhes, Abdul-Wahed N.

    2007-01-01

    Surgery in patients with sickle cell disease (SCD) has been associated with high morbidity and mortality. In recent years, a marked improvement in the safety of surgery and anesthesia in this high-risk group of patients has been witnessed; owing to the improvements in surgical and anesthetic care, greater awareness of pathophysiology of disease, proper perioperative preparation and attention to factors predisposing to vasoocclusive crises. However, this is not paralleled by similar improvement in countries where the disease is not prevalent. Greater population mobility in recent years makes recognition of surgical manifestations of the disease and awareness of perioperative management of sickle cell patients undergoing surgical interventions of paramount importance. This article aims to summarize steps towards safer surgery in patients with SCD. (author)

  5. Mitochondrial Diseases: Clinical Features- Management of Patients

    Directory of Open Access Journals (Sweden)

    Filiz Koc

    2003-02-01

    Full Text Available Mitochondria are unique organells which their own DNA in cells. Human mitochondrial DNA is circular, double-stranded molecule and small. Because all mitochondria are contributed by the ovum during the formation of the zygote, the mitochondrial genom is transmitted by maternal inheritance. Multisystem disorders such as deafness, cardiomyopathy, miyopathy can be seen in mitochondrial diseases. [Archives Medical Review Journal 2003; 12(0.100: 14-31

  6. Somatostatin receptor scintigraphy in patients with cat-scratch disease

    International Nuclear Information System (INIS)

    Krause, R.; Schnedl, W.J.; Hoier, S.; Piswanger-Soelkner, C.; Lipp, R.W.; Daxboeck, F.; Reisinger, E.C.

    2006-01-01

    Aim: somatostatin receptor scintigraphy images various neoplastic, granulomatous, and auto-immun diseases. Cat-scratch disease in an infectious granulomatous disease usually affecting the lymphnodes. It is not known whether cat-scratch disease provides positive somatostatin receptor scintigrams. Patients, methods: twelve patients with lymphadenitis and suspected cat-scratch disease were investigated by immunofluorescence antibody testing and somatostatin receptor scintigraphy. Suppurated lymphnodes were extracted or drained and Bartonella henselae specific PCR was then performed. Results: eleven of 12 patients showed IgG antibodies against B. henselea. SRS showed positive scintigraphic results in 6 of 11 patients with CSD. B. henselae DNA was detected in tissue of lymphnodes from 4 of 5 patients with lymphnode extraction or lymphnode drainage. SRS demonstrated positive scintigrams in all patients with a positive PCR. In one patient with suspected CSD SRS was negative as well as antibody testing. Conclusion: somatostatin receptor scintigraphy correlated with positive Bartonella henselae specific PCR tests and positive Bartonella henselae specific antibody tests in patients with CSD. (orig.)

  7. Somatostatin receptor scintigraphy in patients with cat-scratch disease

    Energy Technology Data Exchange (ETDEWEB)

    Krause, R.; Schnedl, W.J.; Hoier, S. [Div. of Infectious Diseases, Dept. of Internal Medicine, Univ. Graz (Austria); Piswanger-Soelkner, C.; Lipp, R.W. [Div. of Nuclear Medicine, Dept. of Internal Medicine, Univ. Graz (Austria); Daxboeck, F. [Clinical Inst. for Hygiene and Medical Microbiology, Div. of Hospital Hygiene, Univ. of Vienna (Austria); Reisinger, E.C. [Div. of Infectious Diseases and Tropical Medicine, Dept. of Internal Medicine, Univ. Rostock (Germany)

    2006-07-01

    Aim: somatostatin receptor scintigraphy images various neoplastic, granulomatous, and auto-immun diseases. Cat-scratch disease in an infectious granulomatous disease usually affecting the lymphnodes. It is not known whether cat-scratch disease provides positive somatostatin receptor scintigrams. Patients, methods: twelve patients with lymphadenitis and suspected cat-scratch disease were investigated by immunofluorescence antibody testing and somatostatin receptor scintigraphy. Suppurated lymphnodes were extracted or drained and Bartonella henselae specific PCR was then performed. Results: eleven of 12 patients showed IgG antibodies against B. henselea. SRS showed positive scintigraphic results in 6 of 11 patients with CSD. B. henselae DNA was detected in tissue of lymphnodes from 4 of 5 patients with lymphnode extraction or lymphnode drainage. SRS demonstrated positive scintigrams in all patients with a positive PCR. In one patient with suspected CSD SRS was negative as well as antibody testing. Conclusion: somatostatin receptor scintigraphy correlated with positive Bartonella henselae specific PCR tests and positive Bartonella henselae specific antibody tests in patients with CSD. (orig.)

  8. [Subclinical and established kidney disease in recently diagnosed hypertensive patients].

    Science.gov (United States)

    Gómez-Marcos, Manuel Angel; Martínez-Salgado, Carlos; Grandes, Gonzalo; Recio-Rodríguez, José Ignacio; Castaño Sánchez, Yolanda; Rodríguez Sánchez, Emiliano; García-Ortiz, Luis

    2010-03-06

    To estimate renal disease in recently diagnosed hypertensive patients, and to identify factors related to renal disease. Cross-sectional study, with 425 hypertensive patients recently diagnosed in primary health care; renal disease was estimated with serum creatinine, albumin/creatinine index and glomerular filtration rate (GFR). We analyzed cardiovascular risk factors (CRF), subclinical organ injury and cardiovascular disease following the criteria of the 2007 European Guide of Hypertension. Average age: 58,96 +/- 12,73 years old, 63,3% male. We found dyslipemia in 80%, abdominal obesity in 49% and metabolic syndrome in 36% patients. These patients showed increased serum creatinine 3,3%, a reduction in GFR 9,6%, hidden renal disease 6,4%, microalbuminuria 7,5% and nephropathy 2,4%. Hypertensive patients with renal disease (17,88%) were older, with higher systolic pressure, higher incidence of metabolic syndrome, abnormal carotid intima-media thickness and ankle-arm index, and presence of cardiovascular disease. Variables associated with renal disease were metabolic syndrome (odds ratio = 11,12) and ankle-arm index (odds ratio = 17,55). Variables related to creatinina were sex, ankle-arm index and metabolic syndrome; variables related to GFR were sex, age, ankle-arm index, metabolic syndrome and body mass index (BMI); variables related with albumin/creatinine index included diabetes mellitus. Renal disease is detected in about 2 out of 10 hypertensive patients, when, besides serum creatinina, we analyze albumin/creatinine index and GFR. Metabolic syndrome and ankle-arm index are the main variables associated with renal disease. Copyright 2009 Elsevier España, S.L. All rights reserved.

  9. [Anaesthesia for patients with obstructive airway diseases].

    Science.gov (United States)

    Groeben, H; Keller, V; Silvanus, M T

    2014-01-01

    Obstructive lung diseases like asthma or chronic obstructive lung diseases have a high prevalence and are one of the four most frequent causes of death. Obstructive lung diseases can be significantly influenced by the choice of anesthetic techniques and anesthetic agents. Basically, the severity of the COPD and the degree of bronchial hyperreactivity will determine the perioperative anesthetic risk. This risk has to be assessed by a thorough preoperative evaluation and will give the rationale on which to decide for the adequate anaesthetic technique. In particular, airway instrumentation can cause severe reflex bronchoconstriction. The use of regional anaesthesia alone or in combination with general anaesthesia can help to avoid airway irritation and leads to reduced postoperative complications. Prophylactic antiobstructive treatment, volatile anesthetics, propofol, opioids, and an adequate choice of muscle relaxants minimize the anesthetic risk, when general anesthesia is required In case, despite all precautions intra-operative bronchospasm occurs, deepening of anaesthesia, repeated administration of beta2-adrenergic agents and parasympatholytics, and a single systemic dose of corticosteroids represent the main treatment options.

  10. Obstructive sleep apnea in chronic obstructive pulmonary disease patients.

    LENUS (Irish Health Repository)

    Lee, Ruth

    2011-03-01

    Chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA) represent two of the most prevalent chronic respiratory disorders and cardiovascular diseases are major co-morbidities in both. Co-existence of both disorders (overlap syndrome) occurs in 1% of adults and overlap patients have worse nocturnal hypoxemia and hypercapnia than COPD and OSA patients alone. The present review discusses recent data concerning the pathophysiological and clinical significance of the overlap syndrome.

  11. ANTITHROMBOTIC THERAPY IN PATIENTS WITH VALVULAR HEART DISEASE: WHAT'S NEW?

    Directory of Open Access Journals (Sweden)

    N. A. Shostak

    2017-01-01

    Full Text Available The article presents an overview of modern data and an analysis of the recommendations of the European Society of Cardiology and the European Association for Cardio-Thoracic Surgery published in 2017 regarding the use of antithrombotic therapy in patients with valvular heart disease. The results of studies devoted to the use of new oral anticoagulants in patients with valvular heart disease are demonstrated.

  12. Gene therapy and angiogenesis in patients with coronary artery disease

    DEFF Research Database (Denmark)

    Kastrup, Jens

    2010-01-01

    Not all patients with severe coronary artery disease can be treated satisfactorily with current recommended medications and revascularization techniques. Various vascular growth factors have the potential to induce angiogenesis in ischemic tissue. Clinical trials have only evaluated the effect...... of VEGF and FGF in patients with coronary artery disease. The initial small and unblinded studies with either recombinant growth factor proteins or genes encoding growth factors were encouraging, demonstrating both clinical improvement and evidence of angiogenesis. However, subsequent larger double...

  13. Duodopa pump treatment in patients with advanced Parkinson's disease

    DEFF Research Database (Denmark)

    Karlsborg, Merete; Korbo, Lise; Regeur, Lisbeth

    2010-01-01

    Patients with advanced Parkinson's disease (PD) often develop motor complications including fluctuations and involuntary movements (dyskinesias). In Denmark, treatment has comprised Deep Brain Stimulation (DBS) since the late 1990s, and as from 2002 use of a subcutaneous apomorphine pump. Monothe......Patients with advanced Parkinson's disease (PD) often develop motor complications including fluctuations and involuntary movements (dyskinesias). In Denmark, treatment has comprised Deep Brain Stimulation (DBS) since the late 1990s, and as from 2002 use of a subcutaneous apomorphine pump...

  14. Patients with psoriasis have an increased risk of cardiovascular diseases

    DEFF Research Database (Denmark)

    Ahlehoff, Ole; Gislason, Gunnar; Lindhardsen, Jesper

    2012-01-01

    Psoriasis is a chronic immunoinflammatory disease that affects 2-3% of the population and shares pathophysiologic mechanisms and risk factors with cardiovascular diseases. Studies have suggested psoriasis as an independent risk factor for cardiovascular disease and Danish guidelines...... on cardiovascular risk factor modification in patients with psoriasis and psoriatic arthritis have recently been published. We provide a short review of the current evidence and the Danish guidelines....

  15. Thyroid disease in the pediatric patient: emphasizing imaging with sonography

    International Nuclear Information System (INIS)

    Babcock, Diane S.

    2006-01-01

    Thyroid disease does occur in the pediatric patient, and imaging plays an important role in its evaluation. A review is presented of normal development of the thyroid gland, the technique and indications for thyroid sonography, and key imaging features of congenital thyroid disorders (ectopic or absent thyroid, infantile goiter, thyroglossal duct remnants), benign thyroid masses (follicular adenoma, degenerative nodules, colloid and thyroid cysts), malignant masses (follicular, papillary and medullary carcinoma) and diffuse thyroid disease (acute bacterial thyroiditis, Hashimoto's thyroiditis, Grave's disease). (orig.)

  16. How patient positioning affects radiographic signs of canine lung disease

    International Nuclear Information System (INIS)

    Steyn, P.F.; Green, R.W.

    1990-01-01

    A single radiographic projection risks missing signs of lung disease. Four case reports of dogs are given to emphasize inadequate visualization with just one or two radiographs. It is advisable to take both right and left lateral views along with a dorsoventral view in a patient, that might have lung disease

  17. Huntington\\'s disease: Genetic heterogeneity in black African patients

    African Journals Online (AJOL)

    Objective. Huntington's disease (HD) has been reported to occur rarely in black patients. A new genetic variant– Huntington's disease-like 2 (HDL2) – occurring more frequently in blacks, has recently been described. The absence of an expanded trinucleotide repeat at the chromosome 4 HD locus was previously regarded ...

  18. Palliative Care for Patients and Families With Parkinson's Disease

    NARCIS (Netherlands)

    Bouca-Machado, R.; Titova, N.; Chaudhuri, K.R.; Bloem, B.R.; Ferreira, J.J.

    2017-01-01

    Parkinson's disease is the second most common neurodegenerative disease worldwide. There is widespread consensus that Parkinson patients, their carers, and clinicians involved in their care would benefit from a fully integrated, need-based provision of palliative care. However, the concept of

  19. Corpus callosum atrophy in patients with mild Alzheimer's disease

    DEFF Research Database (Denmark)

    Frederiksen, Kristian Steen; Garde, Ellen; Skimminge, Arnold

    2011-01-01

    Several studies have found atrophy of the corpus callosum (CC) in patients with Alzheimer's disease (AD). However, it remains unclear whether callosal atrophy is already present in the early stages of AD, and to what extent it may be associated with other structural changes in the brain......, such as age-related white matter changes (ARWMC) and progression of the disease....

  20. Patient Education in Chronic Skin Diseases: A Systematic Review

    NARCIS (Netherlands)

    de Bes, J.; Legierse, C.M.; Prinsen, C.A.C.; de Korte, J.

    2011-01-01

    The negative impact of skin disease on quality of life (QoL) has been described in many studies. Patient education as an adjunct to treatment, with the aim of improving QoL and reducing disease severity, is a relatively new technique in dermatology. The objective of this article is to analyse and

  1. Small bowel ultrasound in patients with celiac disease

    Energy Technology Data Exchange (ETDEWEB)

    Bartusek, D. [Department of Radiology, Masaryk University hospital Brno (Czech Republic)], E-mail: dbartusek@fnbrno.cz; Valek, V. [Department of Radiology, Masaryk University hospital Brno (Czech Republic)], E-mail: v.valek@fnbrno.cz; Husty, J. [Department of Radiology, Masaryk University hospital Brno (Czech Republic)], E-mail: jhusty@fnbrno.cz; Uteseny, J. [Department of Pediatric Internal Medicine, Masaryk University hospital Brno (Czech Republic)], E-mail: juteseny@fnbrno.cz

    2007-08-15

    Objective: Celiac disease (CD) is a common, lifelong disease with small bowel malabsorption based on genetically conditioned gluten intolerance. The clinical manifestation could be very heterogeneous. The proof of celiac disease is now based mainly on clinical and laboratory (antibodies and enterobiopsy) signs, which are in some cases problematic and inconvenient. Materials and methods: In our study we have examined 250 patients with suspection or with proven celiac disease and we evaluated specific ultrasound small bowel changes in this group. In the next step, we chose 59 patients with laboratory proved celiac disease and we statistically compared ultrasound, other laboratory and clinical findings in different forms and stages of the disease. Results: Specific small bowel pathologies in patients with celiac disease (like changes of intestinal villi in different parts of small bowel, abnormal peristalsis and mesenterial lymphadenopathy) can be well visualized by ultrasound and in combination with clinical and laboratory signs ultrasound examination could have an important role in screening, determination of diagnosis and monitoring of patients with different forms of celiac disease.

  2. Small bowel ultrasound in patients with celiac disease

    International Nuclear Information System (INIS)

    Bartusek, D.; Valek, V.; Husty, J.; Uteseny, J.

    2007-01-01

    Objective: Celiac disease (CD) is a common, lifelong disease with small bowel malabsorption based on genetically conditioned gluten intolerance. The clinical manifestation could be very heterogeneous. The proof of celiac disease is now based mainly on clinical and laboratory (antibodies and enterobiopsy) signs, which are in some cases problematic and inconvenient. Materials and methods: In our study we have examined 250 patients with suspection or with proven celiac disease and we evaluated specific ultrasound small bowel changes in this group. In the next step, we chose 59 patients with laboratory proved celiac disease and we statistically compared ultrasound, other laboratory and clinical findings in different forms and stages of the disease. Results: Specific small bowel pathologies in patients with celiac disease (like changes of intestinal villi in different parts of small bowel, abnormal peristalsis and mesenterial lymphadenopathy) can be well visualized by ultrasound and in combination with clinical and laboratory signs ultrasound examination could have an important role in screening, determination of diagnosis and monitoring of patients with different forms of celiac disease

  3. Assessment of dyslipidemia in renal disease patients | Digban ...

    African Journals Online (AJOL)

    Dyslipidemia is elevation of plasma cholesterol, triglycerides (TGs), or both, or a low high density lipoprotein level that contributes to the development of atherosclerosis. Lipid pattern of renal disease patients were determined. One hundred volunteers were recruited for this study which comprised of sixty renal disease ...

  4. Thymic hyperplasia in a patient with Grave's disease.

    Science.gov (United States)

    Hamzaoui, Amira A; Klii, Rim R; Salem, Randa R; Kochtali, Ines I; Golli, Mondher M; Mahjoub, Silvia S

    2012-02-09

    Hyperplastic changes of the thymus may be found in patients with Graves' disease. However, this rarely presents as an anterior mediastinal mass, particularly among adults. In this report, we describe a 46-year old woman with Graves' disease and thymic hyperplasia.

  5. Thymic hyperplasia in a patient with Grave's disease

    Directory of Open Access Journals (Sweden)

    Hamzaoui Amira A

    2012-02-01

    Full Text Available Abstract Hyperplastic changes of the thymus may be found in patients with Graves' disease. However, this rarely presents as an anterior mediastinal mass, particularly among adults. In this report, we describe a 46-year old woman with Graves' disease and thymic hyperplasia.

  6. Illness behavior in patients with musculoskeletal disease

    NARCIS (Netherlands)

    Bot, A.G.J.

    2013-01-01

    This PhD thesis studies the influence of psychological factors in illness behavior in different hand and upper extremity conditions encountered in the practice of a hand surgeon. The importance of the language used by the patient and the amount of shared decision making in an orthopaedic practice is

  7. Osteoprotegerin and mortality in hemodialysis patients with cardiovascular disease

    DEFF Research Database (Denmark)

    Winther, Simon; Christensen, Jeppe Hagstrup; Flyvbjerg, Allan

    2013-01-01

    Abstract BACKGROUND: Patients treated with hemodialysis (HD) have an increased mortality, mainly caused by cardiovascular disease (CVD). Osteoprotegerin (OPG) is a glycoprotein involved in the regulation of the vascular calcification process. Previous studies have demonstrated that OPG.......08; in the adjusted analyses, the p-value for trend was 0.03. CONCLUSIONS: In a high-risk population of hemodialysis patients with previously documented cardiovascular disease, a high level of OPG was an independent risk marker of all-cause mortality....... is a prognostic marker of mortality. The aim of this study was to investigate if OPG was a prognostic marker of all-cause mortality in high-risk patients with end-stage renal disease and CVD. METHODS: We prospectively followed 206 HD patients with CVD. OPG was measured at baseline and the patients were followed...

  8. Social Media Use in Patients with Inflammatory Bowel Disease.

    Science.gov (United States)

    Guo, Ling; Reich, Jason; Groshek, Jacob; Farraye, Francis A

    2016-05-01

    Patients with chronic illnesses such as Inflammatory Bowel Disease (IBD) have been more keen to utilize the Internet and in particular, social media to obtain patient educational information in recent years. It is important for the gastroenterologist to be aware of these modalities and how they might affect information exchange and ultimately, disease management. This article addresses the current prevalence of social media use, advent of mobile health applications, social media usage in patients with chronic conditions, usage amongst providers, and most notably, the usage and preferences in IBD patients. Over the last decade there has been an increasing desire from patients to receive educational material about their disease through social media. We reviewed the medical literature on the quality of IBD-related information on social media. Given the disparity of information available on the Internet, we remark on the quality of this information and stress the need for further research to assess the validity of IBD information posted on social media.

  9. Priority Settings in patients with Chronic Diseases and Cancer

    DEFF Research Database (Denmark)

    Arreskov, Anne Beiter; Graungaard, Anette Hauskov; Søndergaard, Jens

    Priority setting in patients with cancer and comorbidities Background and aim As both the cancer incidence and the number of patients diagnosed with chronic diseases are increasing, a growing population of cancer survivors will also deal with comorbid chronic diseases. The period after completed...... to comorbidities. Some studies show that participation in regular follow-up consultations concerning comorbid chronic diseases and lifestyle are lower among cancer survivors than non-cancer patients. This could be explained by changes in the patient’s priority setting or in the doctor’s priority and attempt...... to spare the patient for further treatment burden, perhaps resulting in comorbidities falling down the agenda. The overall purpose is to explore patients’ and doctors’ priority settings of comorbidities in patients who have been diagnosed with non-metastatic cancer. Method: The study will consist of three...

  10. ECG abnormalities in patients with chronic kidney disease

    International Nuclear Information System (INIS)

    Shafi, S.; Saleem, M.; Anjum, R.; Abdullah, W.; Shafi, T.

    2017-01-01

    Chronic kidney disease (CKD) is associated with increased risk of cardiovascular disease. Electrocardiographic (ECG) abnormalities are common in CKD patients. However, there is variation in literature regarding frequency of ECG abnormalities in CKD patients and limited information in local population. Methods: The study design was cross-sectional in nature. All patients between ages of 20-80 years with CKD not previously on renal replacement therapy who were admitted to nephrology ward at a tertiary care facility over a 6-month period were included. All patients underwent 12 lead electrocardiograms (ECG). ECG abnormalities were defined based on accepted standard criteria. Results: Total number of patients included in the study was 124. Mean age of all patients was 49.9+-13.8 years, 106 (84.8%) had hypertension, 84 (70%) had diabetes mellitus, and 35 (29.9%) had known cardiovascular disease. Mean serum creatinine was 7.2+-3.4 mg/dl, mean eGFR was 10.6+-9.2 ml/min/1.73 m/sup 2/. Overall 78.4% of all CKD patients have one or more ECG abnormality. Left ventricular hypertrophy (40%), Q waves (27.2%), ST segment elevation or depression (23.4%), prolonged QRS duration (19.2%), tachycardia (17.6%) and left and right atrial enlargement (17.6%) were the most common abnormalities. Conclusion: ECG abnormalities are common in hospitalized CKD patients in local population. All hospitalized CKD patients should undergo ECG to screen for cardiovascular disease. (author)

  11. Evaluation of an automated connective tissue disease screening assay in Korean patients with systemic rheumatic diseases.

    Directory of Open Access Journals (Sweden)

    Seri Jeong

    Full Text Available This study aimed to evaluate the diagnostic utilities of the automated connective tissues disease screening assay, CTD screen, in patients with systemic rheumatic diseases. A total of 1093 serum samples were assayed using CTD screen and indirect immunofluorescent (IIF methods. Among them, 162 were diagnosed with systemic rheumatic disease, including rheumatoid arthritis (RA, systemic lupus erythematosus (SLE, and mixed connective tissue disease (MCT. The remaining 931 with non-systemic rheumatic disease were assigned to the control group. The median ratios of CTD screen tests were significantly higher in the systemic rheumatic disease group than in the control group. The positive likelihood ratios of the CTD screen were higher than those of IIF in patients with total rheumatic diseases (4.1 vs. 1.6, including SLE (24.3 vs. 10.7. The areas under the receiver operating characteristic curves (ROC-AUCs of the CTD screen for discriminating total rheumatic diseases, RA, SLE, and MCT from controls were 0.68, 0.56, 0.92 and 0.80, respectively. The ROC-AUCs of the combinations with IIF were significantly higher in patients with total rheumatic diseases (0.72 and MCT (0.85 than in those of the CTD screen alone. Multivariate analysis indicated that both the CTD screen and IIF were independent variables for predicting systemic rheumatic disease. CTD screen alone and in combination with IIF were a valuable diagnostic tool for predicting systemic rheumatic diseases, particularly for SLE.

  12. Evaluation of an automated connective tissue disease screening assay in Korean patients with systemic rheumatic diseases.

    Science.gov (United States)

    Jeong, Seri; Yang, Heeyoung; Hwang, Hyunyong

    2017-01-01

    This study aimed to evaluate the diagnostic utilities of the automated connective tissues disease screening assay, CTD screen, in patients with systemic rheumatic diseases. A total of 1093 serum samples were assayed using CTD screen and indirect immunofluorescent (IIF) methods. Among them, 162 were diagnosed with systemic rheumatic disease, including rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and mixed connective tissue disease (MCT). The remaining 931 with non-systemic rheumatic disease were assigned to the control group. The median ratios of CTD screen tests were significantly higher in the systemic rheumatic disease group than in the control group. The positive likelihood ratios of the CTD screen were higher than those of IIF in patients with total rheumatic diseases (4.1 vs. 1.6), including SLE (24.3 vs. 10.7). The areas under the receiver operating characteristic curves (ROC-AUCs) of the CTD screen for discriminating total rheumatic diseases, RA, SLE, and MCT from controls were 0.68, 0.56, 0.92 and 0.80, respectively. The ROC-AUCs of the combinations with IIF were significantly higher in patients with total rheumatic diseases (0.72) and MCT (0.85) than in those of the CTD screen alone. Multivariate analysis indicated that both the CTD screen and IIF were independent variables for predicting systemic rheumatic disease. CTD screen alone and in combination with IIF were a valuable diagnostic tool for predicting systemic rheumatic diseases, particularly for SLE.

  13. Acupuncture in patients with valvular heart disease and prosthetic valves.

    Science.gov (United States)

    Stellon, Anthony

    2003-09-01

    Endocarditis has been reported in patients with valvular heart disease who have undergone acupuncture treatment, although most have been associated with the use of semi-permanent needles. This has led reviewers to suggest that acupuncture may not only be contraindicated in such patients but that prophylactic antibiotics should be given. This study investigated the use of acupuncture treatment in patients with proven valvular heart disease and observed whether endocarditis developed in such patients. All patients in a single-handed GP practice with proven valvular heart disease, including those with prosthetic valves, were identified over a ten-year period. Those who had undergone acupuncture treatment underwent a clinical examination and diagnostic tests, which focused on the signs, symptoms and laboratory criteria for the diagnosis of endocarditis and included a transthoracic echocardiogram. Autopsy findings were reviewed in any patient who died. Based on these clinical and laboratory data, using the modified Duke's criteria for the diagnosis of endocarditis, patients were identified as having definite or possible endocarditis, or the diagnosis was rejected. All patients underwent brief acupuncture with no skin disinfectant and no prophylactic antibiotics were given. Semi-permanent needles were avoided. Thirty-six patients with valvular heart disease underwent a total of 479 acupuncture treatments over a ten-year period. The median number of treatments was 9 (range 1-72), with a follow-up after treatment of 5.75 years (range 0.5-10 years). Definite endocarditis was not found in any patient, but two patients had possible endocarditis, eventually discounted by both negative blood cultures and echocardiography. In conclusion, brief acupuncture was safe in this small cohort of valvular heart disease patients and no case of endocarditis was detected over a ten-year period.

  14. [Symbolic meanings of patients with chronic diseases].

    Science.gov (United States)

    Muñoz, Luz Angélica; Price, Yocelyn; Gambini, Liliana; Stefanelli, Maguida Costa

    2003-12-01

    The investigation presents three cultural universes of those suffering from arterial hypertension, diabetes and arthrosis, describing the different dimensions and interpreting their meaning. The ethnographic method was utilized, using the ethnographic interview and participant observation and for the interpretation, the symbolic interactionism and other authors. Convergences in the dimensions arise in which the three diseases are perceived: the loss of well-being and social support, fear of disability and death. perception of the family and accepting the chronicity, interest in alternative medicine. The informants of this study perceive nursing care with ambiguity.

  15. Search for Pompe disease among patients with undetermined myopathies.

    Science.gov (United States)

    Lindberg, C; Anderson, B; Engvall, M; Hult, M; Oldfors, A

    2015-07-20

    Pompe disease is a rare treatable glycogen storage disease with in adults - a limb-girdle muscle weakness. Muscle biopsy may fail to show the typical vacuolar myopathy. We asked if we had un-diagnosed patients with Pompe disease in western Sweden. We searched the muscle biopsy registry during the time period 1986 until 2006 including 3665 biopsies and included patients at our Neuromuscular Center with unspecified myopathy or limb-girdle muscular dystrophy. The dry blood spot test was used to identify patients with Pompe disease. A total of 82 patients (46 from the biopsy register and 36 from our center) were seen and dry blood spot test was obtained. No patient with Pompe disease was found. The dry blood spot test was low in three cases (11, 16, and 18% of normal) but a second blood sample showed a normal result based on GAA enzyme activity in lymphocytes in all three patients. In one patient with low normal result of the analysis in lymphocytes a genetic test showed no pathogenic mutations. Further investigation gave a definite diagnose of another myopathy in 12 patients. The prevalence of Pompe disease in western Sweden (3 in 1.27 million or 0.24 per 100.000 inhabitants) is lower than in the Netherlands and New York. Re-evaluation of patients with myopathies but without definite diagnosis is rewarding since 12 of 82 patients in our study had a definite molecular diagnosis after workup. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  16. Gastroparesis in patients with inactive Crohn's disease: a case series

    Directory of Open Access Journals (Sweden)

    Oyen Wim JG

    2007-03-01

    Full Text Available Abstract Background Few studies have described patients with foregut dysmotility in inflammatory bowel disease. The aim of this case series was to evaluate clinical characteristics of 5 patients with inflammatory bowel disease and symptoms and signs of upper gut dysmotility. Case presentations We describe a series of four patients with Crohn's disease and one with indeterminate colitis who presented with severe symptoms and signs of gastroparesis. We reviewed medical records of all cases. Gastric emptying of a solid meal was assessed by scintigraphy. Small bowel enteroclysis, gastroduodenoscopy and colonoscopy with biopsies were performed to estimate the activity of the disease and to exclude organic obstruction. None of the patients had any signs of active inflammation or stricture. All of the patients had markedly delayed gastric emptying with a mean t 1/2 of 234 minutes (range 110–380 minutes; normal values 54–94 minutes. Conclusion Clinicians should consider impaired gastric emptying when evaluating patients with Crohn's disease and severe symptoms of upper gut dysmotility, which cannot be attributed to active inflammation or organic obstruction of the digestive tract. Symptoms in these patients are refractory to various therapeutic interventions including tube feeding and gastric surgery.

  17. Brain MRI in 17 patients with ocular Behcet's disease

    International Nuclear Information System (INIS)

    Accorinti, Massimo; Pivetti Pezzi, Paola; Di Biasi, Claudio; Trasimeni, Guido; Melone, Antonio; Gualdi, Gianfranco

    1997-01-01

    Behcet's disease is a chronic relapsing disorder of unknown etiology characterized by oral aphthous ulcerations, uveitis, genital ulcerations and bone lesions. A variety of other signs including polyarthritis, vascular conditions (blood vessel occlusions and aneurysms), epididymitis, gastrointestinal, pulmonary and heart lesions may also occur. Central nervous system (CNS) involvement is reported in 10-49 % of cases and it is the first symptom of the disease in 5 % of subjects. The neuro-Behcet's syndrome may appear as a brainstem syndrome, and an organic confusional syndrome or dementia. cranial hypertension, mostly related to cerebral venus thrombosis, is also present in neuro-Behcet's disease and its incidence is reported in up to 10 % of Behcet's patients. MRI is reportedly the most sensitive neuroradiological approach to detect the focal lesions related to neuro-Behcet disease and several single cases or series of Behcet's patients with neurologic sings have been examined with MRI. They used MRI to investigate CNS involvement in Behcet's disease patients with and without previous neurologic sings. MRI was carried out on 17 patients with ocular Behcet's disease without neurological symptoms to assess the possible subclinical involvement of the CNS. PD and T2-weighted hypersignal foci were demonstrated in parietal, frontal, subcortical and periventricular white matter in 6 subjects. Neuroradiological abnormalities were found only in patients with complete disease and with the disease diagnosed more than 10 years earlier. Even though the pathogenesis of these neuroradiological abnormalities and their correlation with Behcet's disease remain to be clarified, their study suggests the possibility of subclinical CNS involvement in these patients, which may affect the therapeutic approach and their prognosis

  18. Cultural diversity in physical diseases among patients with mental illnesses

    DEFF Research Database (Denmark)

    Larsen, Jens I; Andersen, Ulla A; Becker, Thomas

    2012-01-01

    Objective:People with psychiatric diseases have a severely increased risk for physical morbidity and premature death from physical diseases. The aims of the study were to investigate the occurrence of cardiovascular diseases (CVD), diabetes (DM) and obesity in schizophrenia and depression in three...... in Europe and Japan.Method:Patients with International Classification of Diseases (ICD-10) F2 diseases (schizophrenia spectrum disorders) and F3 diseases (affective disorders) admitted to one Nigerian, one Japanese, two Swiss, two German and six Danish centres during 1 year were included. Physical diseases...... in accordance with ICD-10 were also registered. Psychiatric and physical comorbidity were calculated and standardized rate ratio incidences of background populations were our primary measures.Results:Incidence rate ratios were increased for both CVD, DM and overweight in both F2 and F3 in all cultures (Western...

  19. [Invasive mould disease in haematological patients].

    Science.gov (United States)

    Ruiz-Camps, Isabel; Jarque, Isidro

    2014-01-01

    Invasive mould infections (IMI) are a persistent problem with high morbidity and mortality rates among patients receiving chemotherapy for hematological malignancies and hematopoietic stem cell transplant recipients. Management of IMI in this setting has become increasingly complex with the advent of new antifungal agents and diagnostic tests, which have resulted in different therapeutic strategies (prophylactic, empirical, pre-emptive, and directed). A proper assessment of the individual risk for IMI appears to be critical in order to use the best prophylactic and therapeutic approach and increase the survival rates. Among the available antifungal drugs, the most frequently used in the hematologic patient are fluconazole, mould-active azoles (itraconazole, posaconazole and voriconazole), candins (anidulafungin, caspofungin and micafungin), and lipid formulations of amphotericin B. Specific recommendations for their use, and criteria for selecting the antifungal agents are discussed in this paper. Copyright © 2014. Published by Elsevier Espana.

  20. The relationship between different information sources and disease-related patient knowledge and anxiety in patients with inflammatory bowel disease.

    Science.gov (United States)

    Selinger, C P; Carbery, I; Warren, V; Rehman, A F; Williams, C J; Mumtaz, S; Bholah, H; Sood, R; Gracie, D J; Hamlin, P J; Ford, A C

    2017-01-01

    Patient education forms a cornerstone of management of inflammatory bowel disease (IBD). The Internet has opened new avenues for information gathering. To determine the relationship between different information sources and patient knowledge and anxiety in patients with IBD. The use of information sources in patients with IBD was examined via questionnaire. Anxiety was assessed with the hospital anxiety and depression scale and disease-related patient knowledge with the Crohn's and colitis knowledge score questionnaires. Associations between these outcomes and demographics, disease-related factors, and use of different information sources were analysed using linear regression analysis. Of 307 patients (165 Crohn's disease, 142 ulcerative colitis) 60.6% were female. Participants used the hospital IBD team (82.3%), official leaflets (59.5%), and official websites (53.5%) most frequently in contrast to alternative health websites (9%). University education (P sex (P = 0.004), clinically active disease (P sources are associated with better knowledge or worse anxiety levels. Face-to-face education and written information materials remain the first line of patient education. Patients should be guided towards official information websites and warned about the association between the use of alternative health websites or random links and anxiety. © 2016 John Wiley & Sons Ltd.

  1. Vagus nerve stimulation in patients with Alzheimer's disease

    DEFF Research Database (Denmark)

    Merrill, Charley A; Jonsson, Michael A G; Minthon, Lennart

    2006-01-01

    BACKGROUND: Cognitive-enhancing effects of vagus nerve stimulation (VNS) have been reported during 6 months of treatment in a pilot study of patients with Alzheimer's disease (AD). Data through 1 year of VNS (collected from June 2000 to September 2003) are now reported. METHOD: All patients (N = 17......) met the National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer's Disease and Related Disorders Association (NINCDS-ADRDA) criteria for probable AD. Responder rates for the Alzheimer's Disease Assessment Scale-cognitive subscale (ADAS-cog) and Mini-Mental State...

  2. [Coffee can be beneficial for patients with liver diseases].

    Science.gov (United States)

    Kjærgaard, Maria; Thiele, Maja; Krag, Aleksander

    2014-10-20

    Coffee is one of the most commonly consumed beverages in the world. Consequently, it is important to consider the impact of coffee on health and disease. A daily intake of at least three cups of coffee is likely to have beneficial health effects, especially in patients at risk of liver diseases. Coffee has been associated with decreased liver inflammation, prevention of cirrhosis, reduced steatosis and lower incidence of hepatocellular carcinoma. It is not yet possible to make clear recommendations, but coffee can likely be included as part of a healthy diet for patients with liver diseases.

  3. The obesity paradox in patients with peripheral arterial disease

    NARCIS (Netherlands)

    W. Galal (Wael); Y.R.B.M. van Gestel (Yvette); S.E. Hoeks (Sanne); D.D. Sin; T.A. Winkel (Tamara); J.J. Bax (Jeroen); H.J.M. Verhagen (Hence); A.M.M. Awara (Adel); J. Klein (Jan); R.T. van Domburg (Ron); D. Poldermans (Don)

    2008-01-01

    textabstractBackground: Cardiac events are the predominant cause of late mortality in patients with peripheral arterial disease (PAD). In these patients, mortality decreases with increasing body mass index (BMI). COPD is identified as a cardiac risk factor, which preferentially affects underweight

  4. Left ventricular hypertrophy among chronic kidney disease patients ...

    African Journals Online (AJOL)

    Introduction: The presence of left ventricular hypertrophy (LVH) in patients with Chronic Kidney Disease (CKD) is associated with worsening cardiovascular outcomes. There is a dearth of data on LVH in Ghanaian CKD patients. Methods: This was a cross sectional study carried out at the Komfo Anokye Teaching Hospital ...

  5. Effect of cinacalcet on cardiovascular disease in patients undergoing dialysis

    DEFF Research Database (Denmark)

    Chertow, Glenn M; Block, Geoffrey A; Correa-Rotter, Ricardo

    2012-01-01

    Disorders of mineral metabolism, including secondary hyperparathyroidism, are thought to contribute to extraskeletal (including vascular) calcification among patients with chronic kidney disease. It has been hypothesized that treatment with the calcimimetic agent cinacalcet might reduce the risk...... of death or nonfatal cardiovascular events in such patients....

  6. Perceptions of medication safety among patients with inflammatory bowel disease.

    LENUS (Irish Health Repository)

    Cullen, Garret

    2010-09-01

    The aim of this study was to assess attitudes towards and knowledge of medication safety in inflammatory bowel disease (IBD). IBD patients frequently require long-term treatment with potentially toxic medications. Techniques are employed to improve patient awareness of medication safety, but there are sparse data on their effectiveness.

  7. Bilateral impacted femoral neck fracture in a renal disease patient ...

    African Journals Online (AJOL)

    Spontaneous bilateral femoral neck facture in a renal disease patient is not common. We report a case of 47-year-old female patient with chronic renal failure and on regular hemodialysis for the past 5 years who sustained bilateral impacted femoral neck fracture without history of trauma and injury and refused any surgical ...

  8. An investigation of diverticular disease among black patients ...

    African Journals Online (AJOL)

    ... diets are thought to be risk factors for developing the disease. ... dietary and social circumstances of the patient, and did not indicate where the patient .... anaemia (n=3; 6.38%) and work-up for colon cancer (n=3; 6.38%). Pattern of colonic ...

  9. Anxiety and depressive features in chronic disease patients in ...

    African Journals Online (AJOL)

    Anxiety and depression were assessed with the Hospital Anxiety and Depression Scale. Results: Overall, 17.0% of patients screened positive for anxiety disorder and 39.1% for depressive disorder. Patients with cancer (47.8%) had the highest rate of anxiety features, and those with chronic obstructive pulmonary disease ...

  10. Disease Patterns and Outcome for Medical Neurological Patients ...

    African Journals Online (AJOL)

    Aim: To review the disease pattern and outcome for neurological patients admitted to the intensive care unit (ICU) of the University of Nigeria Teaching Hospital (UNTH), Enugu, Nigeria was undertaken. Patients and Methods: The hospital records (case notes ICU records) were reviewed retrospectively for five years and the ...

  11. Herbal medicine use among Turkish patients with chronic diseases

    Directory of Open Access Journals (Sweden)

    Munevver Tulunay

    2015-09-01

    Conclusions: In this study herbal medicine use was found to be higher among patients who had been diagnosed with chronic diseases. Therefore physicians should be aware of herbal medicine usage of their patients and inform them about the effectivity and side effects of herbal medicines. [J Intercult Ethnopharmacol 2015; 4(3.000: 217-220

  12. [DIET CHARACTERISTICS IN PATIENTS WITH CHRONIC KIDNEY DISEASE].

    Science.gov (United States)

    Bašić-Marković, N; Šutić, I; Popović, B; Marković, R; Vučak, J

    2016-12-01

    Because of the increasing number of patients, chronic kidney disease (CKD) has become a significant public health problem. As kidney function decreases, it is necessary to introduce certain dietary modifications. The aim was to investigate what is the appropriate approach to diet of CKD patients, which could contribute to slowing down progression of the disease. Dietary recommendations are individual for each patient, but also vary in the same patient depending on the stage of disease progression because special attention must be paid to appropriate intake of macronutrients (protein, carbohydrates and fats), micronutrients (sodium, potassium, calcium, phosphorus, zinc, selenium, various vitamins), and water. In newly diagnosed patients, it is necessary to assess their nutritional status and energy requirements. It has been shown that protein-energy malnutrition, muscle loss and cachexia are strong predictors of mortality in CKD. Comparing different dietary approaches in everyday life of patients suffering from CKD, it was found that the most effective diet is Mediterranean food style. Studies confirm that Mediterranean diet has a preventive effect on renal function and reduces progression of the disease. Preventive measures, correct identification and early intervention can increase survival of patients and improve their quality of life. Mediterranean diet tailored to individual stages of CKD has been confirmed as the best choice in CKD patients.

  13. Individualized Vascular Disease Prevention in High-Risk Patients

    NARCIS (Netherlands)

    Kaasenbrood, L

    2016-01-01

    In the pharmacologic prevention of vascular events, clinicians need to translate average effects from a clinical trial to the individual patient. Prediction models can contribute to individualized vascular disease prevention by selecting patients for treatment based on estimated risk or expected

  14. [Drug treatment of erection disorders in patients with cardiovascular disease

    NARCIS (Netherlands)

    Meuleman, E.J.H.; Kingma, J.H.

    2001-01-01

    Erectile dysfunction is a frequent condition in cardiovascular patients. Since the arrival of oral erection-supporting medication, patients want to know how safe sexual activity is in cardiovascular disease in general and during use of erection-supporting medication in particular. Sexual intercourse

  15. Learning Style Preferences of Elderly Coronary Artery Disease Patients.

    Science.gov (United States)

    Theis, Saundra L.; Merritt, Sharon L.

    1992-01-01

    The Patient Learning Styles Questionnaire derived from Canfield and administered to 134 elderly coronary artery disease patients revealed the following order of learning preferences: structure, iconics, listening, direct experience, reading, achievement, affiliation, and eminence. Level of education significantly influenced preferred learning…

  16. Orofacial function and oral health in patients with Parkinson's disease

    DEFF Research Database (Denmark)

    Bakke, Merete; Larsen, Stine L; Lautrup, Caroline

    2011-01-01

    No comprehensive study has previously been published on orofacial function in patients with well-defined Parkinson's disease (PD). Therefore, the aim of this study was to perform an overall assessment of orofacial function and oral health in patients, and to compare the findings with matched cont...

  17. Vitamin D Receptor Gene Variants in Parkinson's Disease Patients

    African Journals Online (AJOL)

    Rokhsareh Meamar

    2016-09-22

    Sep 22, 2016 ... c Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran ... polymorphisms, no significant difference in genotype or allele distribution was found between PD patients ... Parkinson's Disease Brain Bank criteria [16]. Then ... PD patients and 53 age-sex matched controls were chosen.

  18. Senescence rates in patients with end-stage renal disease

    DEFF Research Database (Denmark)

    Koopman, J J E; Rozing, M P; Kramer, Ada

    2011-01-01

    function of the Gompertz equation as a superior descriptor of senescence rate. Here, we tested both measures of the rate of senescence in a population of patients with end-stage renal disease. It is clinical dogma that patients on dialysis experience accelerated senescence, whereas those with a functional...

  19. Increased self-transcendence in patients with intractable diseases.

    Science.gov (United States)

    Iwamoto, Rie; Yamawaki, Niwako; Sato, Takeshi

    2011-12-01

    Patients with intractable disease require long-term treatment and experience repeated bouts of progressive symptoms and resolutions, which cause them severe suffering. The aim of this study was to elucidate the concepts of self-transcendence and subjective well-being in patients with intractable disease. Forty-four patients with intractable disease (men/women: 22/22) participated. The diseases of the participants were classified into five systems: (i) neural/muscle system; (ii) digestive system; (iii) immunity/blood system; (iv) visual system; and (v) bone/joint system. The controls were 1854 healthy individuals (men/women: 935/869). Participants completed the Self-Transcendence Scale (STS) and the Japanese version of the World Health Organization-Subjective Inventory. The Japanese version of the Mini-International Neuropsychiatric Interview was also used for the intractable disease group. Analysis of covariance found a significant increase in STS score among the intractable disease group (P self-transcendence. The results also showed that there was a strong correlation between self-transcendence and respondents' subjective well-being. Our results suggest that patients with life-changing intractable disease can have a high level of self-transcendence, which may lead them to regain mental well-being, and increase their psychological health even in situations that cause physical and mental suffering. © 2011 The Authors. Psychiatry and Clinical Neurosciences © 2011 Japanese Society of Psychiatry and Neurology.

  20. Sexually transmitted diseases among psychiatric patients in Brazil.

    Science.gov (United States)

    Dutra, Maria Rita Teixeira; Campos, Lorenza Nogueira; Guimarães, Mark Drew Crosland

    2014-01-01

    Sexually transmitted diseases are still highly prevalent worldwide and represent an important public health problem. Psychiatric patients are at increased risk of sexually transmitted diseases but there are scarce published studies with representative data of this population. We sought to estimate the prevalence and correlates of self-reported sexually transmitted diseases among patients with mental illnesses under care in a national representative sample in Brazil (n=2145). More than one quarter of the sample (25.8%) reported a lifetime history of sexually transmitted disease. Multivariate analyses showed that patients with a lifetime sexually transmitted disease history were older, had history of homelessness, used more alcohol and illicit drugs, suffered violence, perceived themselves to be at greater risk for HIV and had high risk sexual behavioral: practised unprotected sex, started sexual life earlier, had more than ten sexual partners, exchanged money and/or drugs for sex and had a partner that refused to use condom. Our findings indicate a high prevalence of self-reported sexually transmitted diseases among psychiatric patients in Brazil, and emphasize the need for implementing sexually transmitted diseases prevention programs in psychiatric settings, including screening, treatment, and behavioral modification interventions. Copyright © 2013 Elsevier Editora Ltda. All rights reserved.

  1. Lattice QCD at finite temperature with Wilson fermions

    International Nuclear Information System (INIS)

    Pinke, Christopher

    2014-01-01

    The subatomic world is governed by the strong interactions of quarks and gluons, described by Quantum Chromodynamics (QCD). Quarks experience confinement into colour-less objects, i.e. they can not be observed as free particles. Under extreme conditions such as high temperature or high density, this constraint softens and a transition to a phase where quarks and gluons are quasi-free particles (Quark-Gluon-Plasma) can occur. This environment resembles the conditions prevailing during the early stages of the universe shortly after the Big Bang. The phase diagram of QCD is under investigation in current and future collider experiments, for example at the Large Hadron Collider (LHC) or at the Facility for Antiproton and Ion Research (FAIR). Due to the strength of the strong interactions in the energy regime of interest, analytic methods can not be applied rigorously. The only tool to study QCD from first principles is given by simulations of its discretised version, Lattice QCD (LQCD). These simulations are in the high-performance computing area, hence, the numerical aspects of LQCD are a vital part in this field of research. In recent years, Graphic Processing Units (GPUs) have been incorporated in these simulations as they are a standard tool for general purpose calculations today. In the course of this thesis, the LQCD application CL 2 QCD has been developed, which allows for simulations on GPUs as well as on traditional CPUs, as it is based on OpenCL. CL 2 QCD constitutes the first application for Wilson type fermions in OpenCL. It provides excellent performance and has been applied in physics studies presented in this thesis. The investigation of the QCD phase diagram is hampered by the notorious sign-problem, which restricts current simulation algorithms to small values of the chemical potential. Theoretically, studying unphysical parameter ranges allows for constraints on the phase diagram. Of utmost importance is the clarification of the order of the finite

  2. Finite size effects in lattice QCD with dynamical Wilson fermions

    Energy Technology Data Exchange (ETDEWEB)

    Orth, B.

    2004-06-01

    Due to limited computing resources choosing the parameters for a full lattice QCD simulation always amounts to a compromise between the competing objectives of a lattice spacing as small, quarks as light, and a volume as large as possible. Aiming at pushing unquenched simulations with the standard Wilson action towards the computationally expensive regime of small quark masses, the GRAL project addresses the question whether computing time can be saved by sticking to lattices with rather modest numbers of grid sites and extrapolating the finite-volume results to the infinite volume (prior to the usual chiral and continuum extrapolations). In this context we investigate in this work finite-size effects in simulated light hadron masses. Understanding their systematic volume dependence may not only help saving computer time in light quark simulations with the Wilson action, but also guide future simulations with dynamical chiral fermions which for a foreseeable time will be restricted to rather small lattices. We analyze data from hybrid Monte Carlo simulations with the N{sub f} = 2 Wilson action at two values of the coupling parameter, {beta} = 5.6 (lattice spacing {alpha} {approx} 0.08 fm) and {beta} = 5.32144 ({alpha} {approx} 0.13 fm). The larger {beta} corresponds to the coupling used previously by SESAM/T{chi}L. The considered hopping parameters {kappa} = 0.1575, 0.158 (at the larger {beta}) and {kappa} = 0.1665 (at the smaller {beta}) correspond to quark masses of 85, 50 and 36% of the strange quark mass, respectively. At each quark mass we study at least three different lattice extents in the range from L = 10 to L = 24 (0.85-2.04 fm). Estimates of autocorrelation times in the stochastic updating process and of the computational cost of every run are given. For each simulated sea quark mass we calculate quark propagators and hadronic correlation functions in order to extract the pion, rho and nucleon masses as well as the pion decay constant and the quark mass

  3. Nonpharmacological treatments for patients with Parkinson's disease.

    Science.gov (United States)

    Bloem, Bastiaan R; de Vries, Nienke M; Ebersbach, Georg

    2015-09-15

    Since 2013, a number of studies have enhanced the literature and have guided clinicians on viable treatment interventions outside of pharmacotherapy and surgery. Thirty-three randomized controlled trials and one large observational study on exercise and physiotherapy were published in this period. Four randomized controlled trials focused on dance interventions, eight on treatment of cognition and behavior, two on occupational therapy, and two on speech and language therapy (the latter two specifically addressed dysphagia). Three randomized controlled trials focused on multidisciplinary care models, one study on telemedicine, and four studies on alternative interventions, including music therapy and mindfulness. These studies attest to the marked interest in these therapeutic approaches and the increasing evidence base that places nonpharmacological treatments firmly within the integrated repertoire of treatment options in Parkinson's disease. © 2015 International Parkinson and Movement Disorder Society.

  4. Pre-operative evaluation of patients with chronic liver disease

    International Nuclear Information System (INIS)

    Tapias M Monica; Idrovo Cubides, Victor

    2006-01-01

    Patients with advanced liver disease have an increased risk of complications, compared to healthy patients when they undergo a surgical procedure. This risk is related to the type of surgery, to the type of anesthetic used, and to the severity of the underlying liver disease. Several risk factors for liver disease should be identified prior to a procedure. Those with advanced disease should undergo specific pre-surgical diagnostic tests. The Child Pugh score, and the MELD score, are very useful to establish the surgical risk in individuals with liver disease. The Child-Pugh score is a very useful tool that correlates closely to morbidity and mortality in patients with liver disease. Mortality rates in these patients undergoing major surgery is 10, 30 and 82% for Child-Pugh scores A, B and C respectively. In order to optimize the patient's condition before surgery, a complete evaluation and management of conditions such as jaundice, coagulopathy, ascites, electrolyte abnormalities, renal insufficiency and encephalopathy must be performed. This approach helps to reduce the complication rate in these individuals

  5. The Modern First Lady and Public Policy: From Edith Wilson through Hillary Rodham Clinton.

    Science.gov (United States)

    Black, Allida M.

    2001-01-01

    Discusses the role in and influence on public policy of twentieth century First Ladies including Edith Roosevelt, Helen Taft, Ellen Wilson, Edith Wilson, Florence Harding, Lou Henry Hoover, Eleanor Roosevelt, Jacqueline Kennedy, Lady Bird Johnson, Rosalynn Carter, Nancy Reagan, Barbara Bush, and Hillary Rodham Clinton. (CMK)

  6. War, Medicine, and Cultural Diplomacy in the Americas: Frank Wilson and Brazilian cardiology.

    Science.gov (United States)

    Kropf, Simone P; Howell, Joel D

    2017-10-01

    American cultural diplomacy played a key role in the institutionalization of Brazilian cardiology. In 1942, Frank Wilson, an internationally recognized pioneer in electrocardiography, made an extended wartime visit to Rio de Janeiro and São Paulo. The visit was sponsored by the United States Department of State as part of Roosevelt's Good Neighbor Policy and brought Wilson together with a group of physicians who would establish the specialty of cardiology in Brazil. This US cultural and diplomatic initiative strengthened an academic network that was already evolving and would eventually prove to be of benefit to both sides. Latin American physicians began in the 1920s to visit Wilson's laboratory at the University of Michigan, where they established the relationships on which Wilson would build. While affiliation with the "Wilson school" advanced the cause of Brazilian cardiologists who sought to establish themselves as specialists, cooperation with Latin American physicians benefitted Wilson in his pursuit of wider recognition for his innovations in the use of electrocardiography (ECG). Wilson's identity as a scientific ambassador to Latin America helped in legitimating his approach to the clinical application of the ECG. A close examination of Wilson's relationship to Brazilian cardiology demonstrates the role played by science and medicine as a part of wartime cultural diplomacy, as well as the dynamics of the transnational circulation of scientific knowledge and practices. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  7. Determination of low-energy constants of Wilson chiral perturbation theory

    International Nuclear Information System (INIS)

    Herdoiza, Gregorio; Univ. Autonoma de Madrid, Contoblanco; Univ. Autonoma de Madrid; Jansen, Karl; Univ. Cyprus, Nicosia; Michael, Chris; Ottnad, Konstantin; Urbach, Carsten; Univ. Bonn

    2013-03-01

    By matching Wilson twisted mass lattice QCD determinations of pseudoscalar meson masses to Wilson Chiral Perturbation Theory we determine the low-energy constants W 6 ' , W 8 ' and their linear combination c 2 . We explore the dependence of these low-energy constants on the choice of the lattice action and on the number of dynamical flavours.

  8. "Mens Sana in Corpore Sano": Human Values in Thomas Wilson's "The Arte of Rhetorique."

    Science.gov (United States)

    Luehring, Janet

    In 1553 the work that is touted as the first complete book written in English on rhetoric was published, Thomas Wilson's "Arte of Rhetorique." It became so popular it enjoyed eight printings within its century. Wilson was not a person to translate and read just for knowledge; he believed that knowledge should be imparted to the general…

  9. Wilson loops and its correlators with chiral operators in N = 2, 4 SCFT at large N

    Science.gov (United States)

    Sysoeva, E.

    2018-03-01

    In this paper we compute the vacuum expectation value of the Wilson loop and its correlators with chiral primary operators in N = 2, 4 superconformal U( N ) gauge theories at large N . After localization these quantities can be computed in terms of a deformed U( N ) matrix model. The Wilson loops we deal with are in the fundamental and symmetric representations.

  10. Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma.

    Science.gov (United States)

    Desai, Rajen U; Saffra, Norman A; Krishna, Rati P; Rosenberg, Steven E

    2011-01-01

    The authors describe a girl diagnosed as having Coats' disease, Turner syndrome (45X karyotype), and type 1 von Willebrand disease. She tested negative for the Norrie disease pseudoglioma (NDP) gene located on the X-chromosome, which has been suspected of contributing to Coats' disease. Copyright 2010, SLACK Incorporated.

  11. Severe aplastic anaemia and Grave's disease in a paediatric patient.

    Science.gov (United States)

    Kumar, Manjusha; Goldman, Jeffrey

    2002-07-01

    Severe aplastic anaemia (SAA) is considered to be an autoimmune disorder affecting the haematopoietic cells and most often is idiopathic. An association between SAA and other autoimmune diseases is rare and has been described in adults for eosinophilic fasciitis, thymomas, systemic lupus erythematosus and thyroid disorders. We describe the first paediatric patient with chronic relapsing SAA and Grave's disease. We discuss the difficulty in diagnosis of Grave's disease, the possibility of its manifestation due to withdrawal of immunosuppressants, and issues to consider in the treatment of this disease in the setting of bone marrow failure.

  12. Behavioral interventions for coronary heart disease patients

    Directory of Open Access Journals (Sweden)

    Orth-Gomér Kristina

    2012-02-01

    Full Text Available Abstract Introduction There is a strong clinical need to provide effective stress reduction programs for patients with an acute coronary syndrome. Such programs for men have been implemented and their cardiovascular health benefit documented. For women such programs are scarce. In this report, The feasibility of a cognitive method that was recently demonstrated to prolong lives of women is tested. A setting with gender segregated groups was applied. Method The principles of a behavioural health educational program originally designed to attenuate the stress of patients with coronary prone behaviours were used as a basis for the intervention method. For the groups of female patients this method was tailored according to female stressors and for the groups of men according to male stressors. The same core stress reduction program was used for women and men, but the contents of discussions and responses to the pre planned program varied. These were continuously monitored throughout the fifteen sessions. Implementation group: Thirty consecutive patients, eleven women and nineteen men, hospitalized for an acute coronary syndrome were included in this intervention. All expressed their need to learn how to cope with stress in daily life and were highly motivated. Five groups, three groups of men and two groups of women were formed. Psychological assessments were made immediately before and after completion of the program. Results No gender differences in the pre planned programs were found, but discussion styles varied between the women and men, Women were more open and more personal. Family issues were more frequent than job issues, although all women were employed outside their homes. Men talked about concrete and practical things, mostly about their jobs, and not directly about their feelings. Daily stresses of life decreased significantly for both men and women, but more so for women. Depressive thoughts were low at baseline, and there was no

  13. Behavioral interventions for coronary heart disease patients.

    Science.gov (United States)

    Orth-Gomér, Kristina

    2012-02-02

    There is a strong clinical need to provide effective stress reduction programs for patients with an acute coronary syndrome. Such programs for men have been implemented and their cardiovascular health benefit documented. For women such programs are scarce.In this report, The feasibility of a cognitive method that was recently demonstrated to prolong lives of women is tested. A setting with gender segregated groups was applied. The principles of a behavioural health educational program originally designed to attenuate the stress of patients with coronary prone behaviours were used as a basis for the intervention method. For the groups of female patients this method was tailored according to female stressors and for the groups of men according to male stressors. The same core stress reduction program was used for women and men, but the contents of discussions and responses to the pre planned program varied. These were continuously monitored throughout the fifteen sessions. Implementation group: Thirty consecutive patients, eleven women and nineteen men, hospitalized for an acute coronary syndrome were included in this intervention. All expressed their need to learn how to cope with stress in daily life and were highly motivated. Five groups, three groups of men and two groups of women were formed. Psychological assessments were made immediately before and after completion of the program. No gender differences in the pre planned programs were found, but discussion styles varied between the women and men, Women were more open and more personal. Family issues were more frequent than job issues, although all women were employed outside their homes. Men talked about concrete and practical things, mostly about their jobs, and not directly about their feelings. Daily stresses of life decreased significantly for both men and women, but more so for women. Depressive thoughts were low at baseline, and there was no change over time. In contrast, anxiety scores were high at

  14. Psychological rehabilitation of patients with endogenous disease

    Directory of Open Access Journals (Sweden)

    Tamara Kryvonis

    2013-07-01

    Full Text Available The rationale for early psychotherapeutic intervention in combination with psychopharmatherapy in patients with endogenous disorders is provided. The mechanisms of psychological defenses to deal with traumatic experience, used by personalities functioning on a psychotic level, are also described here. Characteristic behavior patterns of extended family members in terms of emotional codependence are provided. Individual pathopsychology is considered as a symptom of abnormal functioning of the family. Emphasis is placed on the importance of inclusion of family members in psychotherapeutic interaction in order to correct interpersonal relations.

  15. Prevalence of psoriasis in patients with alcoholic liver disease.

    LENUS (Irish Health Repository)

    Tobin, A M

    2012-02-01

    BACKGROUND: Excessive alcohol use has been implicated as a risk factor in the development of psoriasis, particularly in men. Despite this, little is known of the incidence or prevalence of psoriasis in patients who misuse alcohol. OBJECTIVE: To assess the prevalence of psoriasis in patients with alcoholic liver disease. METHODS: In total, 100 patients with proven alcoholic liver disease were surveyed for a history of psoriasis and a full skin examination was performed if relevant. RESULTS: Of the 100 patients, 15 reported a history of psoriasis and another 8 had evidence of current activity, suggesting a prevalence (past or present) of 15% in this group of patients. CONCLUSION: It would appear that the prevalence of psoriasis in patients who misuse alcohol is much higher than the 1-3% variously quoted in the general population.

  16. Online Patient Education for Chronic Disease Management: Consumer Perspectives.

    Science.gov (United States)

    Win, Khin Than; Hassan, Naffisah Mohd; Oinas-Kukkonen, Harri; Probst, Yasmine

    2016-04-01

    Patient education plays an important role in chronic disease management. The aim of this study is to identify patients' preferences in regard to the design features of effective online patient education (OPE) and the benefits. A review of the existing literature was conducted in order to identify the benefits of OPE and its essential design features. These design features were empirically tested by conducting survey with patients and caregivers. Reliability analysis, construct validity and regression analysis were performed for data analysis. The results identified patient-tailored information, interactivity, content credibility, clear presentation of content, use of multimedia and interpretability as the essential design features of online patient education websites for chronic disease management.

  17. [Suplemented restricted diet in old patients with chronic renal disease].

    Science.gov (United States)

    Teplan, Vladimír

    2016-01-01

    In last decades was confirmed remarkable increase in number of old patients with chronic kidney disease. Despide of developments in dialysis technology and kidney transplantation there is a growing number of old patients who are not suitable for these methods. Recently were published data showing long-term effect of protein restricted diet supplemented with keto amino acids in elderly. Based on our results obtained in re-analysis of 3 000 patients we can confirm also good compliance and low risk of malnutrition.Key words: chronic kidney disease - keto amino acids - old age - restricted diet.

  18. The prevalence of autoimmune disease in patients with esophageal achalasia.

    Science.gov (United States)

    Booy, J D; Takata, J; Tomlinson, G; Urbach, D R

    2012-04-01

    Achalasia is a rare disease of the esophagus that has an unknown etiology. Genetic, infectious, and autoimmune mechanisms have each been proposed. Autoimmune diseases often occur in association with one another, either within a single individual or in a family. There have been separate case reports of patients with both achalasia and one or more autoimmune diseases, but no study has yet determined the prevalence of autoimmune diseases in the achalasia population. This paper aims to compare the prevalence of autoimmune disease in patients with esophageal achalasia to the general population. We retrospectively reviewed the charts of 193 achalasia patients who received treatment at Toronto's University Health Network between January 2000 and May 2010 to identify other autoimmune diseases and a number of control conditions. We determined the general population prevalence of autoimmune diseases from published epidemiological studies. The achalasia sample was, on average, 10-15 years older and had slightly more men than the control populations. Compared to the general population, patients with achalasia were 5.4 times more likely to have type I diabetes mellitus (95% confidence interval [CI] 1.5-19), 8.5 times as likely to have hypothyroidism (95% CI 5.0-14), 37 times as likely to have Sjögren's syndrome (95% CI 1.9-205), 43 times as likely to have systemic lupus erythematosus (95% CI 12-154), and 259 times as likely to have uveitis (95% CI 13-1438). Overall, patients with achalasia were 3.6 times more likely to suffer from any autoimmune condition (95% CI 2.5-5.3). Our findings are consistent with the impression that achalasia's etiology has an autoimmune component. Further research is needed to more conclusively define achalasia as an autoimmune disease. © 2011 Copyright the Authors. Journal compilation © 2011, Wiley Periodicals, Inc. and the International Society for Diseases of the Esophagus.

  19. Should the patient with coronary artery disease use sildenafil?

    Science.gov (United States)

    Cheitlin, Melvin D

    2003-01-01

    Since the etiology of erectile dysfunction is frequently related to endothelial dysfunction, a problem in common with much vascular disease, erectile dysfunction disproportionately affects patients with cardiovascular disease. With the development of phosphodiesterase 5 inhibitors, the first of which was sildenafil (Viagra), an effective oral medication became available. The question of safety of these drugs, especially in patients with latent or overt coronary artery disease, is of concern. Sildenafil relaxes smooth muscle and therefore lowers systolic and diastolic blood pressure slightly. With organic nitrates, the drop in blood pressure is potentiated, at times dangerously, thereby making it contraindicated to take nitrates within 24 hours of using sildenafil. In double-blind, placebo-controlled trials, there was no difference between sildenafil subjects and control patients in the incidence of myocardial infarction, cardiovascular, and total deaths. Coronary disease patients with stable angina, controlled on medications, were included in the trials. Therefore, sildenafil, as a drug, is safe in such patients. With a patient with coronary artery disease suddenly engaging in the physical exercise associated with sexual intercourse, there is the danger of increased risk of precipitating myocardial infarction or death. The cardiovascular metabolic cost of sexual activity is reviewed and appears to be approximately at the level of 3-5 metabolic equivalents of exercise. Sexual activity occurs within 2 hours of the onset of an acute myocardial infarction in life will be markedly improved by their ability to engage in sexual activity.

  20. Oral Anticoagulation in Patients With Liver Disease.

    Science.gov (United States)

    Qamar, Arman; Vaduganathan, Muthiah; Greenberger, Norton J; Giugliano, Robert P

    2018-05-15

    Patients with liver disease are at increased risks of both thrombotic and bleeding complications. Many have atrial fibrillation (AF) or venous thromboembolism (VTE) necessitating oral anticoagulant agents (OACs). Recent evidence has contradicted the assumption that patients with liver disease are "auto-anticoagulated" and thus protected from thrombotic events. Warfarin and non-vitamin K-antagonist OACs have been shown to reduce thrombotic events safely in patients with either AF or VTE. However, patients with liver disease have largely been excluded from trials of OACs. Because all currently approved OACs undergo metabolism in the liver, hepatic dysfunction may cause increased bleeding. Thus, the optimal anticoagulation strategy for patients with AF or VTE who have liver disease remains unclear. This review discusses pharmacokinetic and clinical studies evaluating the efficacy and safety of OACs in patients with liver disease and provides a practical, clinically oriented approach to the management of OAC therapy in this population. Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  1. New serological markers in pediatric patients with inflammatory bowel disease

    Science.gov (United States)

    Kovács, Márta; Müller, Katalin Eszter; Papp, Mária; Lakatos, Péter László; Csöndes, Mihály; Veres, Gábor

    2014-01-01

    The spectrum of serological markers associated with inflammatory bowel disease (IBD) is rapidly growing. Due to frequently delayed or missed diagnoses, the application of non-invasive diagnostic tests for IBD, as well as differentiation between ulcerative colitis (UC) and Crohn’s disease (CD), would be useful in the pediatric population. In addition, the combination of pancreatic autoantibodies and antibodies against Saccharomyces cerevisiae antibodies/perinuclear cytoplasmic antibody (pANCA) improved the sensitivity of serological markers in pediatric patients with CD and UC. Some studies suggested that age-associated differences in the patterns of antibodies may be present, particularly in the youngest children. In CD, most patients develop stricturing or perforating complications, and a significant number of patients undergo surgery during the disease course. Based on recent knowledge, serum antibodies are qualitatively and quantitatively associated with complicated CD behavior and CD-related surgery. Pediatric UC is characterized by extensive colitis and a high rate of colectomy. In patients with UC, high levels of anti-CBir1 and pANCA are associated with the development of pouchitis after ileal pouch-anal anastomosis. Thus, serologic markers for IBD can be applied to stratify IBD patients into more homogeneous subgroups with respect to disease progression. In conclusion, identification of patients at an increased risk of rapid disease progression is of great interest, as the application of early and more aggressive pharmaceutical intervention could have the potential to alter the natural history of IBD, and reduce complications and hospitalizations. PMID:24803798

  2. Suicidal behavior among Turkish patients with Parkinson’s disease

    Directory of Open Access Journals (Sweden)

    Ozdilek B

    2014-03-01

    Full Text Available Betul Ozdilek,1 Bulent Kadri Gultekin21Department of Neurology, 2Department of Psychiatry, Erenkoy Mental Health and Neurology Training and Research Hospital, Istanbul, TurkeyObjective: To investigate the predictors of suicidal ideation and attempts among Turkish Parkinson’s disease (PD patients.Materials and methods: The study comprised 120 patients with PD. Clinical findings were obtained by using the Unified Parkinson’s Disease Rating Scale. Disease severity was measured by the Hoehn and Yahr staging scale, and the Schwab and England Activities of Daily Living scale was used for patient disability. Psychiatric evaluation was performed by the same psychiatrist using the Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders (DSM-IV Axis I Disorders. Severity of depression was measured with the Hamilton Depression Rating Scale. Suicidal ideation and attempts were considered positive if experienced during the patient’s lifetime. The Suicide Probability Scale was used to assess the risk of suicide. Data were analyzed by logistic regression models to identify variables associated with suicidal ideation and attempts.Results: Based on logistic regression analysis, education level, age of disease onset, disease duration, depression, and history of impulse-control disorder (ICD behaviors were significant predictors of suicidal ideation. The risk rate in the presence of depression and history of ICD behaviors was increased by 5.92 and 4.97, respectively. Additionally, lifetime prevalence of suicidal ideation was found in 11.6% (14 of 120 of PD patients, although no patient had ever attempted suicide.Conclusion: Turkish patients with PD who exhibit a high risk for suicidal ideation also experience disease starting at an earlier age, longer disease duration, presence of depression, and ICD behaviors, and should be monitored carefully.Keywords: Parkinson’s disease, suicidal behavior, risk factors

  3. Preprohypocretin polymorphisms in Parkinson disease patients reporting "sleep attacks".

    Science.gov (United States)

    Rissling, Ida; Körner, Yvonne; Geller, Frank; Stiasny-Kolster, Karin; Oertel, Wolfgang H; Möller, J Carsten

    2005-07-01

    Previously, we found a significant association between the dopamine D2 receptor gene polymorphism Taq IA and sudden onset of sleep in patients with Parkinson disease. Here we evaluated the association between the preprohypocretin (-909T/C), (-22C/T), and (-20C/A) polymorphisms and sudden onset of sleep in the same population of patients with Parkinson disease. We conducted an association study analyzing the distribution of preprohypocretin polymorphisms in Germanic, caucasian Parkinson disease patients with and without sudden onset of sleep, matched according to drug therapy, disease duration, sex, and age. Movement disorders section at a university hospital. 132 Parkinson disease patients with sudden onset of sleep and 132 Parkinson disease patients without sudden onset of sleep. Blood samples were taken from each participant and used for DNA extraction. Polymorphisms were analyzed by established polymerase chain reaction protocols or direct sequencing. The variant allele T of the (-909T/C) preprohypocretin polymorphism was more commonly found in Parkinson disease patients with sudden onset of sleep. Statistical analysis showed that there were significant differences in the genotype (P = .024) and allele (P = .018) distribution between both groups. For heterozygous and homozygous carriers of allele T, the genotype relative-risk estimates for the presence of sudden onset of sleep were 2.01 (95% confidence interval: 0.76-5.34) and 2.81 (95% confidence interval: 1.09-7.25), respectively. Our results show a significant association between the (-909T/C) preprohypocretin polymorphism and sudden onset of sleep in Parkinson disease. However, we could not demonstrate any interaction between the Taq IA and (-909T/C) polymorphisms with respect to the occurrence of sudden onset of sleep, suggesting that multiple genetic factors may contribute to the pathogenesis of this phenomenon.

  4. Patients with inflammatory bowel disease have increased risk of autoimmune and inflammatory diseases

    DEFF Research Database (Denmark)

    Halling, Morten L; Kjeldsen, Jens; Knudsen, Torben

    2017-01-01

    were significantly increased (P celiac disease, type 1 diabetes (T1D), sarcoidosis, asthma, iridocyclitis, psoriasis, pyoderma gangrenosum, rheumatoid arthritis, and ankylosing spondylitis. Restricted to UC (P ...AIM: To investigate whether immune mediated diseases (IMD) are more frequent in patients with inflammatory bowel disease (IBD). METHODS: In this population based registry study, a total of 47325 patients with IBD were alive and registered in the Danish National Patient Registry on December 16, 2013....... Controls were randomly selected from the Danish Civil Registration System (CRS) and matched for sex, age, and municipality. We used ICD 10 codes to identify the diagnoses of the included patients. The IBD population was divided into three subgroups: Ulcerative colitis (UC), Crohn's disease (CD) and Both...

  5. Health behavior of patients with ischemic heart disease

    Directory of Open Access Journals (Sweden)

    Paweł Węgorowski

    2017-06-01

    Full Text Available Admission By analyzing the available scientific literature, it is possible to define ischemic heart disease as a set of disease symptoms that are a consequence of a chronic state of imbalance between the ability to supply nutrients and oxygen and the real need of myocardial cells for these substances. Adapting life-style behaviors to healthy living is a priority to prevent the onset and development of cardiovascular disease, especially ischemic heart disease, Purpose of research The aim of the study is to determine the health behavior of patients with ischemic heart disease. Materials and methods The study was conducted from 01.08.2015 to 28.12.2015 in a group of 35 people (15 women and 20 men. The research method used in the work is a diagnostic survey, the research technique used was a survey of its own author. Conclusions By analyzing the data collected, it is important to note that patients with coronary heart disease are often associated with health problems such as hypertension, diabetes and abnormal weight. The nutritional habits of the subjects studied can be described as abnormal, particularly the excessive intake of oily meat and too little fish intake. It has also been observed that most of the patients studied have familial predisposition to ischemic heart disease. Discussion Heart attacks occur mostly in people with obesity, diabetes and atherosclerosis. It is also closely related to ischemic heart disease. The health behaviors of patients suffering from Ischemic Heart Disease are moderately satisfactory and therefore the role of a nurse practitioner as a health educator is very difficult but essential in the prevention of ischemic heart disease.

  6. Graves′ disease in a dialysis dependent chronic renal failure patient

    Directory of Open Access Journals (Sweden)

    C G Nair

    2014-01-01

    Full Text Available Thyroid hormone level may be altered in chronic renal failure patients. Low levels of thyroxine protect the body from excess protein loss by minimizing catabolism. Hyperthyroidism is rarely encountered in end-stage dialysis dependent patients. Less than 10 well-documented cases of Graves′ disease (GD are reported in literature so far. We report a case of GD in a patient on dialysis.

  7. Tachyarrhythmia in patients with congenital heart disease: inevitable destiny?

    Science.gov (United States)

    Teuwen, C P; Taverne, Y J H J; Houck, C; Götte, M; Brundel, B J J M; Evertz, R; Witsenburg, M; Roos-Hesselink, J W; Bogers, A J J C; de Groot, N M S

    2016-03-01

    The prevalence of patients with congenital heart disease (CHD) has increased over the last century. As a result, the number of CHD patients presenting with late, postoperative tachyarrhythmias has increased as well. The aim of this review is to discuss the present knowledge on the mechanisms underlying both atrial and ventricular tachyarrhythmia in patients with CHD and the advantages and disadvantages of the currently available invasive treatment modalities.

  8. CYTOKINE PROFILE FEATURES IN PATIENTS WITH CHRONIC OBSTRUCTIVE PULMONARY DISEASE

    Directory of Open Access Journals (Sweden)

    E. Р. Kalinina

    2012-01-01

    Full Text Available Abstract. We studied cytokine profile in blood and exhaled breath condensate (EBC in patients with chronic obstructive pulmonary disease (COPD being in remission state. It is shown that pro- and anti-inflammatory cytokine contents depended on the disease severity, both in whole blood and EBC of the COPD patients. We have revealed an increase in TNFα, s-TNFα RI, TGF-β1 and bFGF in EBC of patients with COPD manifestations, thus being indicative for progression of metabolic changes in lung tissue, and advanced stage of respiratory functional disturbances. Cytokine profile abnormalities in COPD patients resulting, in part, from systemic and local disorders of cellular immunity, represent a major pathogenetic mechanism determining the disease progression.

  9. Fibromyalgia in patients with other rheumatic diseases: prevalence and relationship with disease activity.

    Science.gov (United States)

    Haliloglu, Sema; Carlioglu, Ayse; Akdeniz, Derya; Karaaslan, Yasar; Kosar, Ali

    2014-09-01

    Fibromyalgia (FM) is a syndrome characterized by chronic widespread pain and the presence of specific tender points. The prevalence of FM has been estimated at 2-7 % of the general global population. The presence of FM in several rheumatic diseases with a structural pathology has been reported as 11-30 %. The objectives of this study were to determine the prevalence of FM and to evaluate the possible relationship between FM existence and disease activity among rheumatic diseases. The study group included 835 patients--197 rheumatoid arthritis (RA), 67 systemic lupus erythematosus (SLE), 119 ankylosing spondylitis (AS), 238 osteoarthritis (OA), 14 familial Mediterranean fever (FMF), 53 Behçet's disease (BD), 71 gout, 25 Sjögren's syndrome (SS), 20 vasculitis, 29 polymyalgia rheumatica (PMR), and two polymyositis (PM)--with or without FM. Recorded information included age, gender, laboratory parameters, presence of fatigue, and disease activity indexes. The prevalence of FM in patients with rheumatologic diseases was found to be 6.6 % for RA, 13.4 % for SLE, 12.6 % for AS, 10.1 % for OA, 5.7 % for BD, 7.1 % for FMF, 12 % for SS, 25 % for vasculitis, 1.4 % for gout, and 6.9 % for PMR. One out of two patients with PM was diagnosed with FM. Some rheumatologic cases (AS, OA) with FM were observed mostly in female patients (p = 0.000). Also, there were significant correlations between disease activity indexes and Fibromyalgia Impact Questionnaire scores for most rheumatologic patients (RA, AS, OA, and BD) (p diseases, and its recognition is important for the optimal management of these diseases. Increased pain, physical limitations, and fatigue may be interpreted as increased activity of these diseases, and a common treatment option is the prescription of higher doses of biologic agents or corticosteroids. Considerations of the FM component in the management of rheumatologic diseases increase the likelihood of the success of the treatment.

  10. Prevalence of celiac disease among first-degree relatives of Indian celiac disease patients.

    Science.gov (United States)

    Mishra, Asha; Prakash, Shyam; Kaur, Gurvinder; Sreenivas, Vishnubhatla; Ahuja, Vineet; Gupta, Siddhartha Datta; Makharia, Govind K

    2016-03-01

    Celiac disease, once thought to be uncommon in Asia, is now recognized in Asian nations as well. We investigated the prevalence of celiac disease in first-degree relatives of celiac disease patients followed in our centre. First-degree relatives were screened prospectively for celiac disease using questionnaire-based interview and anti-tissue transglutaminase antibody. Serology positive first-degree relatives underwent duodenal biopsies. Diagnosis of celiac disease was made based on positive serology and villous abnormality Marsh grade 2 or higher. Human leucocyte antigen DQ2/-DQ8 was also assessed in 127 first-degree relatives. 434 first-degree relatives of 176 celiac disease patients were prospectively recruited; 282 were symptomatic (64.9%), 58 were positive for serology (13.3%). Seroprevalence was higher in female than in males (19% vs 8.5%; p=0.001) and highest in siblings (16.9%) than parents (13.6%) and children (5.9%) of celiac patients (p=0.055); 87.4% first-degree relatives were human leucocyte antigen-DQ2/-DQ8 positive. Overall prevalence of celiac disease was 10.9% amongst first-degree relatives. The prevalence of celiac disease in first-degree relatives of celiac disease patients was 10.9% in our cohort, and 87% had human leucocyte antigen-DQ2 or -DQ8 haplotype. All first-degree relatives of celiac disease patients should be screen for celiac disease even if asymptomatic or with atypical manifestations. Copyright © 2015 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  11. Celiac Disease Autoimmunity in Patients with Autoimmune Diabetes and Thyroid Disease among Chinese Population.

    Directory of Open Access Journals (Sweden)

    Zhiyuan Zhao

    Full Text Available The prevalence of celiac disease autoimmunity or tissue transglutaminase autoantibodies (TGA amongst patients with type 1 diabetes (T1D and autoimmune thyroid disease (AITD in the Chinese population remains unknown. This study examined the rate of celiac disease autoimmunity amongst patients with T1D and AITD in the Chinese population. The study included 178 patients with type 1 diabetes and 119 with AITD where 36 had both T1D and AITD, classified as autoimmune polyglandular syndrome type 3 variant (APS3v. The study also included 145 patients with type 2 diabetes (T2D, 97 patients with non-autoimmune thyroid disease (NAITD, and 102 healthy controls. Serum islet autoantibodies, thyroid autoantibodies and TGA were measured by radioimmunoassay. TGA positivity was found in 22% of patients with either type 1 diabetes or AITD, much higher than that in patients with T2D (3.4%; p< 0.0001 or NAITD (3.1%; P < 0.0001 or healthy controls (1%; p<0.0001. The patients with APS3v having both T1D and AITD were 36% positive for TGA, significantly higher than patients with T1D alone (p = 0.040 or with AITD alone (p = 0.017. T1D and AITD were found to have a 20% and 30% frequency of overlap respectively at diagnosis. In conclusion, TGA positivity was high in the Chinese population having existing T1D and/or AITD, and even higher when both diseases were present. Routine TGA screening in patients with T1D or AITD will be important to early identify celiac disease autoimmunity for better clinical care of patients.

  12. Symmetry breaking by Wilson loops in gauge field theory

    International Nuclear Information System (INIS)

    Dowker, J.S.; Jadhav, S.P.

    1989-01-01

    An analysis is presented of the gauge symmetry breaking caused by Wilson loops on a space-time whose spatial section is openR/sup d/ x S 3 /Γ, for all those fundamental groups Γ that give a homogeneous space. We concentrate on pure SU(3) and SU(5) gauge field theories and find that symmetry breaking can occur when d = 0, for all Γ. If d = 3, the extra minimal scalars prevent any breaking and one must include other fields to achieve this. Explicit forms for the vacuum energies are exhibited in the case of lens and prism spaces, the former for SU(n). For Γ = Z/sub m/, when m and the radius of the sphere become infinite, we recover the results on the space-time openR/sup d//sup +3/ x S 1

  13. Very high order lattice perturbation theory for Wilson loops

    International Nuclear Information System (INIS)

    Horsley, R.

    2010-10-01

    We calculate perturbativeWilson loops of various sizes up to loop order n=20 at different lattice sizes for pure plaquette and tree-level improved Symanzik gauge theories using the technique of Numerical Stochastic Perturbation Theory. This allows us to investigate the behavior of the perturbative series at high orders. We observe differences in the behavior of perturbative coefficients as a function of the loop order. Up to n=20 we do not see evidence for the often assumed factorial growth of the coefficients. Based on the observed behavior we sum this series in a model with hypergeometric functions. Alternatively we estimate the series in boosted perturbation theory. Subtracting the estimated perturbative series for the average plaquette from the non-perturbative Monte Carlo result we estimate the gluon condensate. (orig.)

  14. Cost of QCD simulations with nf = 2 dynamical Wilson fermions

    International Nuclear Information System (INIS)

    Lippert, Th.

    2002-01-01

    Cost estimates for simulations of full QCD with n f = 2 Wilson fermions by hybrid Monte Carlo are presented. The extrapolations are based on the average number of iterations, N it , of the iterative solver within the fermionic part of the HMC molecular dynamics, which is closely related to the minimal eigenvalue of M † M. The cost formula is determined as a product of the scaling functions of iterative solver and integrated autocorrelation time of 1/N it as function of the inverse lattice pseudoscalar mass. Timings by SESAM/TχL allow to fix the pre-factor. It is demonstrated that a 2-flavor dynamical determination of light hadron masses with a statistical precision comparable to the corresponding quenched results from CP-PACS is the appropriate task for a 100 Tflops system

  15. ON-SHELL IMPROVEMENT OF THE MASSIVE WILSON QUARK ACTION.

    Energy Technology Data Exchange (ETDEWEB)

    AOKI, S.; KAYABA, Y.; KURAMASHI, Y.; YAMADA, N.

    2005-04-01

    We review a relativistic approach to the heavy quark physics in lattice QCD by applying a relativistic O(a) improvement to the massive Wilson quark action on the lattice. After explaining how power corrections of m{sub Q}a can be avoided and remaining uncertainties are reduced to be of order (a{Lambda}{sub QCD}){sup 2}, we demonstrate a determination of four improvement coefficients in the action up to one-loop level in a mass dependent way. We also show a perturbative determination of mass dependent renormalization factors and O(a) improvement coefficients for the vector and axial vector currents. Some preliminary results of numerical simulations are also presented.

  16. Circular Wilson loops in defect conformal field theory

    Energy Technology Data Exchange (ETDEWEB)

    Aguilera-Damia, Jeremías; Correa, Diego H. [Instituto de Física La Plata, CONICET, Universidad Nacional de La Plata,C.C. 67, 1900 La Plata (Argentina); Giraldo-Rivera, Victor I. [International Centre for Theoretical Sciences (ICTS-TIFR),Shivakote, Hesaraghatta Hobli, Bengaluru 560089 (India)

    2017-03-06

    We study a D3-D5 system dual to a conformal field theory with a codimension-one defect that separates regions where the ranks of the gauge groups differ by k. With the help of this additional parameter, as observed by Nagasaki, Tanida and Yamaguchi, one can define a double scaling limit in which the quantum corrections are organized in powers of λ/k{sup 2}, which should allow to extrapolate results between weak and strong coupling regimes. In particular we consider a radius R circular Wilson loop placed at a distance L, whose internal space orientation is given by an angle χ. We compute its vacuum expectation value and show that, in the double scaling limit and for small χ and small L/R, weak coupling results can be extrapolated to the strong coupling limit.

  17. Left ventricular diastolic function in patients with coronary artery disease

    Energy Technology Data Exchange (ETDEWEB)

    Brugger, P.T.

    1986-08-01

    In 302 patients with confirmed coronary disease we determined the left ventricular diastolic function with the Nuclear Stethoscope by the aid of the Peak Filling Rate (PFR) and the Time to Peak Filling Rate (TPFR). Moreover we investigated the ejection fraction (EF). 201 patients had already suffered a myocardial infarction, of these 99 an anterior wall and 102 an inferior wall infarction. The remaining 101 patients had a CAD without a history of myocardial infarction. The PFR was 2.19 +- 0.65 EDV/sec in the 99 patients after anterior wall infarction and 2.62 +- 0.85 EDV/sec in the 102 patients after inferior wall infarction and 2.79 +- 0.85 EDV/sec in 101 patients with coronary artery disease without a history of myocardial infarction. For the PFR there could be found a statistically significant difference between normal patients and patients after anterior wall infarction (p < 0.0001), normal patients and patients after inferior wall infarction (p < 0.0001) and normal patients and patients with coronary artery disease (p < 0.0001). The TPFR was 180 +- 37.5 msec after anterior - and 158 +- 50.7 msec after inferior wall infarction and 156 +- 45.2 msec in the patients with CAD without previous infarction. The left ventricular diastolic function (PFR and/or TPFR) was abnormal in 88% after anterior- and in 82% after inferior wall infarction and in 69% in coronary patients without previous myocardial infarction. In comparison with this the ejection fraction was reduced in 66% in anterior- and in 61% inferior wall infarction at rest. These results indicate that the diastolic function at rest appears to be more informative for evaluation of a left ventricular dysfunction than the systolic function at rest.

  18. Celiac disease and pulmonary hemosiderosis in a patient with chronic granulomatous disease

    NARCIS (Netherlands)

    Hartl, Dominik; Belohradsky, Bernd H.; Griese, Matthias; Nicolai, Thomas; Krauss-Etschmann, Susanne; Roos, Dirk; Wintergerst, Uwe

    2004-01-01

    We report on a patient with the hitherto undescribed combination of chronic granulomatous disease, pulmonary hemosiderosis, and celiac disease. The hemosiderosis resolved with a gluten-free diet and glucocorticosteroid pulse therapy, but the restrictive lung function pattern remained unchanged. Lung

  19. Motor Sequence Learning Performance in Parkinson's Disease Patients Depends on the Stage of Disease

    Science.gov (United States)

    Stephan, Marianne A.; Meier, Beat; Zaugg, Sabine Weber; Kaelin-Lang, Alain

    2011-01-01

    It is still unclear, whether patients with Parkinson's disease (PD) are impaired in the incidental learning of different motor sequences in short succession, although such a deficit might greatly impact their daily life. The aim of this study was thus to clarify the relation between disease parameters of PD and incidental motor learning of two…

  20. Gravity duals of half-BPS Wilson loops

    International Nuclear Information System (INIS)

    D'Hoker, Eric; Estes, John; Gutperle, Michael

    2007-01-01

    We explicitly construct the fully back-reacted half-BPS solutions in Type IIB supergravity which are dual to Wilson loops with 16 supersymmetries in N = 4 super Yang-Mills. In a first part, we use the methods of a companion paper to derive the exact general solution of the half-BPS equations on the space AdS 2 x S 2 x S 4 x Σ, with isometry group SO(2, 1) x SO(3) x SO(5) in terms of two locally harmonic functions on a Riemann surface Σ with boundary. These solutions, generally, have varying dilaton and axion, and non-vanishing 3-form fluxes. In a second part, we impose regularity and topology conditions. These non-singular solutions may be parametrized by a genus g ≥ 0 hyperelliptic surface Σ, all of whose branch points lie on the real line. Each genus g solution has only a single asymptotic AdS 5 x S 5 region, but exhibits g homology 3-spheres, and an extra g homology 5-spheres, carrying respectively RR 3-form and RR 5-form charges. For genus 0, we recover AdS 5 x S 5 with 3 free parameters, while for genus g ≥ 1, the solution has 2g+5 free parameters. The genus 1 case is studied in detail. Numerical analysis is used to show that the solutions are regular throughout the g = 1 parameter space. Collapse of a branch cut on Σ subtending either a homology 3-sphere or a homology 5-sphere is non-singular and yields the genus g-1 solution. This behavior is precisely expected of a proper dual to a Wilson loop in gauge theory

  1. Phanerozoic environments of black shale deposition and the Wilson Cycle

    Directory of Open Access Journals (Sweden)

    J. Trabucho-Alexandre

    2012-02-01

    Full Text Available The spatial and temporal distribution of black shales is related to the development of environments in which they accumulate and to a propitious combination of environmental variables. In recent years, much has been done to improve our understanding of the mechanisms behind the temporal distribution of black shales in the Phanerozoic and of the environmental variables that result in their deposition. However, the interpretation of ancient black shale depositional environments is dominated by an oversimplistic set of three depositional models that do not capture their complexity and dynamics. These three models, the restricted circulation, the (open ocean oxygen minimum and the continental shelf models, are an oversimplification of the variety of black shale depositional environments that arise and coexist throughout the course of a basin's Wilson Cycle, i.e. the dynamic sequence of events and stages that characterise the evolution of an ocean basin, from the opening continental rift to the closing orogeny. We examine the spatial distribution of black shales in the context of the Wilson Cycle using examples from the Phanerozoic. It is shown that the geographical distribution of environments of black shale deposition and the position of black shales in the basin infill sequence strongly depend on basin evolution, which controls the development of sedimentary environments where black shales may be deposited. The nature of the black shales that are deposited, i.e. lithology and type of organic matter, also depends on basin evolution and palaeogeography. We propose that in studies of black shales more attention should be given to the sedimentary processes that have led to their formation and to the interpretation of their sedimentary environments.

  2. Myocardial performance and perfusion during exercise in patients with coronary artery disease caused by Kawasaki disease

    International Nuclear Information System (INIS)

    Paridon, S.M.; Ross, R.D.; Kuhns, L.R.; Pinsky, W.W.

    1990-01-01

    For a study of the natural history of coronary artery lesions after Kawasaki disease and their effect on myocardial blood flow reserve with exercise, five such patients underwent exercise testing on a bicycle. Oxygen consumption, carbon dioxide production, minute ventilation, and electrocardiograms were monitored continuously. Thallium-201 scintigraphy was performed for all patients. One patient stopped exercise before exhaustion of cardiovascular reserve but had no evidence of myocardial perfusion abnormalities. Four patients terminated exercise because of exhaustion of cardiovascular reserve; one had normal cardiovascular reserve and thallium scintiscans, but the remaining patients had diminished cardiovascular reserve. Thallium scintigrams showed myocardial ischemia in two and infarction in one. No patient had exercise-induced electrocardiographic changes. These results indicate that patients with residual coronary artery lesions after Kawasaki disease frequently have reduced cardiovascular reserve during exercise. The addition of thallium scintigraphy and metabolic measurements to exercise testing improved the detection of exercise-induced abnormalities of myocardial perfusion

  3. Chronic kidney disease in congenital heart disease patients: a narrative review of evidence.

    Science.gov (United States)

    Morgan, Catherine; Al-Aklabi, Mohammed; Garcia Guerra, Gonzalo

    2015-01-01

    Patients with congenital heart disease have a number of risk factors for the development of chronic kidney disease (CKD). It is well known that CKD has a large negative impact on health outcomes. It is important therefore to consider that patients with congenital heart disease represent a population in whom long-term primary and secondary prevention strategies to reduce CKD occurrence and progression could be instituted and significantly change outcomes. There are currently no clear guidelines for clinicians in terms of renal assessment in the long-term follow up of patients with congenital heart disease. Consolidation of knowledge is critical for generating such guidelines, and hence is the purpose of this view. This review will summarize current knowledge related to CKD in patients with congenital heart disease, to highlight important work that has been done to date and set the stage for further investigation, development of prevention strategies, and re-evaluation of appropriate renal follow-up in patients with congenital heart disease. The literature search was conducted using PubMed and Google Scholar. Current epidemiological evidence suggests that CKD occurs in patients with congenital heart disease at a higher frequency than the general population and is detectable early in follow-up (i.e. during childhood). Best evidence suggests that approximately 30 to 50 % of adult patients with congenital heart disease have significantly impaired renal function. The risk of CKD is higher with cyanotic congenital heart disease but it is also present with non-cyanotic congenital heart disease. Although significant knowledge gaps exist, the sum of the data suggests that patients with congenital heart disease should be followed from an early age for the development of CKD. There is an opportunity to mitigate CKD progression and negative renal outcomes by instituting interventions such as stringent blood pressure control and reduction of proteinuria. There is a need to

  4. Atypical form of cat scratch disease in immunocompetent patient

    Directory of Open Access Journals (Sweden)

    Kojić Miroslav

    2013-01-01

    Full Text Available Introduction. Cat scratch disease (CSD is an acute infectious disease with benign course caused by the bacteria Bartonella henselae. Clinically, it is usually manifested as regional lymphadenopathy and mild infective syndrome. Rare forms of the disease which usually occur in immunocompromised presons are: encephalitis, transverse myelitis, neuroretinitis, granulomatosus conjunctivitis, arthritis, hepatitis etc. Case report. We presented an atypical form of cat scratch disease in a young immunocompetent female person. The disease was manifested with prolonged fever, rash, purulent lymphadenitis and hepatitis. The diagnosis was based on characteristic patohystological finding and exclusion of the other causes of lymphadenopathy. The patient was treated by antibiotics for a few weeks, with surgical incision and drainage of the purulent lymphadenitis. Conclusion. Atypical forms of CSD could be an important differential-diagnostic problem, especially if there is no opportunity for serological confirmation of the disease.

  5. Efficiency of patients with carcinoma and acceptance of the disease

    Directory of Open Access Journals (Sweden)

    Marzena Kamińska

    2014-04-01

    Full Text Available Introduction: Human functioning is based on physical, psychological, social and spiritual areas. The emergence of cancer and all types of problems affect these areas. Adapting to cancer is very important for the process of therapy, and acceptance of the disease is its determinant. Aim of the research study : To determine the relationship between oncological patients physical fitness and their acceptance of the disease. Material and methods: The following research techniques and tools have been used: a questionnaire survey, the Repta operation scale for assessing the functionality of patients in the course of the disease, a modified Pain Assessment Worksheet for evaluating the intensity of pain and its impact on daily activities and the AIS scale to assess the degree of acceptance of the disease. Results: Most of the respondents were fully efficient in the field of the activities of daily living. The vast majority of respondents did not feel pain, or felt pain that could be taken lightly. Pain that made daily functioning difficult, particularly in mobility and locomotion, concerned only persons over 60 years old. In the study group there was dominantly an average degree of acceptance of the disease; a small group was marked by a high level, and only a few people showed a lack of acceptance of the disease. Independent people and people in need of assistance accepted the illness at a medium level, and vulnerable patients showed the lowest level of acceptance. Conclusions : The efficiency of patients with cancer affects the level of acceptance of the disease. Cancer for the majority of respondents is not an obstacle in performing basic activities. Most respondents accept the disease, a small part selects a high level, and only a few people show a lack of acceptance of the disease.

  6. Spanish translation, cross-cultural adaptation, and validation of the Questionnaire for Diabetes-Related Foot Disease (Q-DFD)

    OpenAIRE

    Castillo, Wilson; Flores-Fortty,; Feraud,Lourdes; Tettamanti,

    2013-01-01

    Wilson Castillo-Tandazo, Adolfo Flores-Fortty, Lourdes Feraud, Daniel TettamantiSchool of Medicine, Universidad Espíritu Santo – Ecuador, Samborondón, Guayas, EcuadorPurpose: To translate, cross-culturally adapt, and validate the Questionnaire for Diabetes-Related Foot Disease (Q-DFD), originally created and validated in Australia, for its use in Spanish-speaking patients with diabetes mellitus.Patients and methods: The translation and cross-cultural adaptation...

  7. Chronic obstructive pulmonary disease in patients admitted with heart failure

    DEFF Research Database (Denmark)

    Iversen, K K; Kjaergaard, J; Akkan, D

    2008-01-01

    OBJECTIVE: Chronic obstructive pulmonary disease (COPD) is an important differential diagnosis in patients with heart failure (HF). The primary aims were to determine the prevalence of COPD and to test the accuracy of self-reported COPD in patients admitted with HF. Secondary aims were to study...... valve. CONCLUSION: Chronic obstructive pulmonary disease is frequent in patients admitted with HF and self-reported COPD only identifies a minority. The prevalence of COPD was high in both patients with systolic and nonsystolic HF....... a possible relationship between right and left ventricular function and pulmonary function. DESIGN: Prospective substudy. SETTING: Systematic screening at 11 centres. SUBJECTS: Consecutive patients (n = 532) admitted with HF requiring medical treatment with diuretics and an episode with symptoms...

  8. High probability of disease in angina pectoris patients

    DEFF Research Database (Denmark)

    Høilund-Carlsen, Poul F.; Johansen, Allan; Vach, Werner

    2007-01-01

    BACKGROUND: According to most current guidelines, stable angina pectoris patients with a high probability of having coronary artery disease can be reliably identified clinically. OBJECTIVES: To examine the reliability of clinical evaluation with or without an at-rest electrocardiogram (ECG......) in patients with a high probability of coronary artery disease. PATIENTS AND METHODS: A prospective series of 357 patients referred for coronary angiography (CA) for suspected stable angina pectoris were examined by a trained physician who judged their type of pain and Canadian Cardiovascular Society grade...... on CA. Of the patients who had also an abnormal at-rest ECG, 14% to 21% of men and 42% to 57% of women had normal MPS. Sex-related differences were statistically significant. CONCLUSIONS: Clinical prediction appears to be unreliable. Addition of at-rest ECG data results in some improvement, particularly...

  9. Disease awareness and management behavior of patients with atopic dermatitis: a questionnaire survey of 313 patients.

    Science.gov (United States)

    Kim, Jung Eun; Lee, Young Bok; Lee, Ji Hyun; Kim, Hye Sung; Lee, Kyung Ho; Park, Young Min; Cho, Sang Hyun; Lee, Jun Young

    2015-02-01

    Patients with atopic dermatitis (AD) should be relatively well informed about the disorder to control their condition and prevent flare-ups. Thus far, there is no accurate information about the disease awareness levels and therapeutic behavior of AD patients. To collect data on patients' knowledge about AD and their behavior in relation to seeking information about the disease and its treatment. We performed a questionnaire survey on the disease awareness and self-management behavior of AD patients. A total of 313 patients and parents of patients with AD who had visited the The Catholic University of Korea, Catholic Medical Center between November 2011 and October 2012 were recruited. We compared the percentage of correct answers from all collected questionnaires according to the demographic and disease characteristics of the patients. Although dermatologists were the most frequent disease information sources and treatment providers for the AD patients, a significant proportion of participants obtained information from the Internet, which carries a huge amount of false medical information. A considerable number of participants perceived false online information as genuine, especially concerning complementary and alternative medicine treatments of AD, and the adverse effects of steroids. Some questions on AD knowledge had significantly different answers according to sex, marriage status, educational level, type of residence and living area, disease duration, disease severity, and treatment history with dermatologists. Dermatologists should pay more attention to correcting the common misunderstandings about AD to reduce unnecessary social/economic losses and improve treatment compliance.

  10. Determinants of Extraocular Muscle Volume in Patients with Graves' Disease

    Directory of Open Access Journals (Sweden)

    Samer El-Kaissi

    2012-01-01

    Full Text Available Background. To examine factors contributing to extraocular muscle (EOM volume enlargement in patients with Graves’ hyperthyroidism. Methods. EOM volumes were measured with orbital magnetic resonance imaging (MRI in 39 patients with recently diagnosed Graves’ disease, and compared to EOM volumes of 13 normal volunteers. Thyroid function tests, uptake on thyroid scintigraphy, anti-TSH-receptor antibody positivity and other parameters were then evaluated in patients with EOM enlargement. Results. 31/39 patients had one or more enlarged EOM, of whom only 2 patients had clinical EOM dysfunction. Compared to Graves’ disease patients with normal EOM volumes, those with EOM enlargement had significantly higher mean serum TSH (0.020±0.005 versus 0.007±0.002 mIU/L; P value 0.012, free-T4 (52.9±3.3 versus 41.2±1.7 pmol/L; P value 0.003 and technetium uptake on thyroid scintigraphy (13.51±1.7% versus 8.55±1.6%; P value 0.045. There were no differences between the 2 groups in anti-TSH-receptor antibody positivity, the proportion of males, tobacco smokers, or those with active ophthalmopathy. Conclusions. Patients with recently diagnosed Graves’ disease and EOM volume enlargement have higher serum TSH and more severe hyperthyroidism than patients with normal EOM volumes, with no difference in anti-TSH-receptor antibody positivity between the two groups.

  11. The determination of lymphocyte transformation in patients of various diseases

    International Nuclear Information System (INIS)

    Su Liaoyuan; Liu Ke Liang; Lin Xingcheng; Sun Guoqi; Xue Zhimou

    1987-01-01

    The synthesis of DNA, RNA and protein during the transformation of human lymphocytes induced by mitogen PHA and LPS was investigated by quantitation of 3 H-TdR, 14 C-UR and 14 C-valine incorporation method. 1666 tests were carried out in patients with various diseases and 424 tests in normal subjects. It was found that immunocompetence was closely related with the progress and prognosis in patients with leukemia. Impairment of the cell-mediated immunity in patients with squamous cell carcinoma and with encephlitis was observed. There was no difference in immunity between patients with adenocarcinoma and the normal subjects. The ionizing irradiation mainly exerts its effect on cell-mediated immunity. The cell-mediated immunity was found to be impaired while the humoral immune regulation was enhanced in tuberculosis and leprosy, indicating that these diseases were caused by impairment of cell-mediated immunity. Both humoral and cell-mediated immunity return to normal levels at convalescence. The uptake of 14 C-UR by lymphocytes in patients with hepatitis increased significantly. Lymphocytes reactivity was elevated in patients with vernal conjunctivities and normal in patients with uveitis. Low reactivity was observed in patients with keratitis. The immunity in various diseases was discussed

  12. Kleptomania in patients with neuro-Behçet's disease.

    Science.gov (United States)

    Shugaiv, Erkingül; Kıyat-Atamer, Aslı; Tüzün, Erdem; Kürtüncü, Murat; Baral-Kulaksızoğlu, Işın; Akman Demir, Gülşen

    2013-01-01

    This study was conducted to characterize the prevalence and clinical features of kleptomania, an impulse control disorder, in patients with Behçet's disease involving the central nervous system. Medical records of 350 patients with neuro-Behçet's disease were evaluated, and clinical and neuropsychological features of patients with kleptomania were noted. Of the 350 neuro-Behçet's disease patients 6 (1.7%) had presented with symptoms that fulfilled the criteria of kleptomania according to the revised 4th version of the Diagnostic and Statistical Manual of Mental Disorders. The 6 patients (5 men, 1 woman) had parenchymal lesions and had developed kleptomania during remission. Magnetic resonance imaging done on the 6 patients before the onset of kleptomania mostly revealed brainstem lesions. Psychiatric assessment did not show any comorbid psychiatric disorders and neuropsychological evaluation showed executive dysfunction in all patients. The 6 patients with kleptomania had developed a frontal lobe syndrome. Copyright © 2013 S. Karger AG, Basel.

  13. Marijuana use patterns among patients with inflammatory bowel disease.

    Science.gov (United States)

    Ravikoff Allegretti, Jessica; Courtwright, Andrew; Lucci, Matthew; Korzenik, Joshua R; Levine, Jonathan

    2013-12-01

    The prevalence and perceived effectiveness of marijuana use has not been well studied in inflammatory bowel disease (IBD) despite increasing legal permission for its use in Crohn's disease. Health care providers have little guidance about the IBD symptoms that may improve with marijuana use. The aim of this study was to assess the prevalence, sociodemographic characteristics, and perceived benefits of marijuana use among patients with IBD. Prospective cohort survey study of marijuana use patterns in patients with IBD at an academic medical center. A total of 292 patients completed the survey (response rate = 94%); 12.3% of patients were active marijuana users, 39.0% were past users, and 48.6% were never users. Among current and past users, 16.4% of patients used marijuana for disease symptoms, the majority of whom felt that marijuana was "very helpful" for relief of abdominal pain, nausea, and diarrhea. On multivariate analysis, age and chronic abdominal pain were associated with current marijuana use (odds ratio [OR], 0.93; 95% confidence interval [CI], 0.89-0.97; P marijuana (OR, 0.93; 95% CI, 0.89-0.97; P marijuana for abdominal pain, were it legally available. A significant number of patients with IBD currently use marijuana. Most patients find it very helpful for symptom control, including patients with ulcerative colitis, who are currently excluded from medical marijuana laws. Clinical trials are needed to determine marijuana's potential as an IBD therapy and to guide prescribing decisions.

  14. [Otorhinolaryngological manifestations in patients with Behçet disease].

    Science.gov (United States)

    Morales-Angulo, Carmelo; Vergara Pastrana, Sandra; Obeso-Agüera, Sergio; Acle, Leticia; González-Gay, Miguel Ángel

    2014-01-01

    Behçet disease (BD) is a systemic immune-mediated vasculitis of unknown origin characterised by recurrent orogenital ulceration, ocular inflammation and skin lesions. The aim of our study was to identify ear, nose and throat (ENT) manifestations associated with BD. Retrospective review of the medical records of all patients diagnosed with BD who attended a tertiary public hospital in Cantabria (Spain) over a period of 22 years. Clinical manifestations, in particular those concerning ENT, were retrieved from medical records. A medical literature review of ENT manifestations was conducted. Thirty-three patients (age range: 17-64 years) were included in the study. Most of them presented oral ulcers (97%). Eight patients (24%) presented oropharyngeal ulcers and 5 patients (15%) experienced audiovestibular symptoms (high frequency sensorineural hearing loss, vertigo and bilateral vestibular hypofunction). One patient had symptoms compatible with vestibular neuronitis as the presentation manifestation of Neuro-Behçet. In 4 patients (12%) the presence of odynophagia secondary to the presence of oropharyngeal lesions, initially interpreted as acute or recurrent tonsillitis, was the first manifestation of the disease, alone or associated with cutaneous or ocular lesions. In addition to the characteristic oral ulcers present in most patients with BD, ulcers in the oropharynx, occasionally interpreted as acute pharyngitis, are also common in these patients. Audiovestibular manifestations frequently appear during the course of the disease and may be the first symptom of central nervous system involvement. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  15. Periodontal disease in pregnant patients with rheumatic valvular disease: clinical and microbiological study.

    Science.gov (United States)

    Avila, Walkiria Samuel; Timerman, Lilia; Romito, Giuseppe Alexandre; Marcelino, Sílvia Linard; Neves, Itamara Lúcia Itagiba; Zugaib, Marcelo; Grinberg, Max

    2011-04-01

    The periodontal disease during pregnancy of women with rheumatic valve disease imply infective endocarditis risks and higher rate of preterm birth and low birth weight. To study the periodontal disease rate of women with rheumatic valve disease during pregnancy. We studied 140 pregnant women who included 70 patients with rheumatic valve disease and 70 healthy women. The periodontal examination included: 1) periodontal clinical exam regard the follow variables: a) probing depth; b) gingival margin; c) clinical attachment level; d) bleeding on probing; e) plaque index and f) gingival index; and 2) microbiological test was performed in samples serum and gingival crevicular fluid and considered positive controls to Porphyromonas gingivalis, Tannerella forsithia e Aggregobacter actinomycetemcomitans. Age and parity were similar between groups; as single or combined the mitral valve disease was prevalent among the rheumatic valve lesion in 45 (32.1%) e 20 (28.5%) cases, respectively. Among the periodontal variables gingival margin (p=0.01) and plaque index (p=0.04) were different between groups. The periodontal disease was identified in 20 (14,3%) pregnant women, seven (10%) of them were patients with valve rheumatic disease and the remain 13 (18,6%) were healthy women, its percentual was not different between groups (p=0,147). Microbiological analyses of oral samples showed higher percentual of P. gingivalis in healthy pregnant women (p=0.004). The clinical and microbiological study during pregnancy showed comparable incidence of periodontal disease between women with rheumatic valve disease and healthy women.

  16. [Analysis of 2 patients with occupational hard mental lung disease].

    Science.gov (United States)

    Ding, Bangmei; Ding, Lu; Yu, Bin; Fan, Cunhua; Han, Lei; Hu, Jinmei; Zhu, Baoli

    2015-01-01

    We sought to master the clinical characteristics and prognosis of hard mental lung disease, improving this disease's diagnosis and treatment quality. We recruited two suspected patients with hard mental lung disease and collected their occupational history, examination results of occupational health, and past medical records. By virtue of laboratory tests, high Kv chest radiography, CT and HRCT of chest, fiberoptic bronchoscopy and ECG examination, diagnostic report was synthesized respectively by respiratory physicians and pathologist from three different agencies. Then the report was submitted to diagnosis organizations of occupational disease, and diagnostic conclusion of occupational disease was drawn after discussion by at least three diagnosticians of occupational disease. We found that both of the two suspected patients were exposed to dusts of hard metal, and length of exposure service ranged from 8 to 9 years. Clinical manifestations were dominated by dry cough, wheezing after activities, and pathological manifestation was characteristic giant cell interstitial pneumonia. The prognosis and outcome of the disease were different. According to exact occupational exposure history, clinical manifestations, combined with the results of high Kv chest radiography, CT of chest and pathological manifestation, it can be diagnosed with hard mental lung disease.

  17. INFORMATION SYSTEM FOR REGISTRY OF PATIENTS WITH METABOLIC DISEASES

    Directory of Open Access Journals (Sweden)

    N. H. Horovenko

    2015-05-01

    Full Text Available This article describes the problems encountered in the management of medical records of patients with metabolic diseases, and also provides a general solution to these problems through the introduction of a software product. Objective was to reduce the burden on the healthcare registrars and medical genetics center, improving the speed and quality of patient care. In the software implementation the main features of the complex design problems are described: the programming language Java, IDE NetBeans, MySQL database server and web application to work with database server phpMyAdmin and put forward requirements. Also, medical receptionist is able to keep track of patients to form an extract, view statistics. During development were numerous consultations with experienced doctors, medical registrars. With the convenient architecture in the future will be easy to add custom modules in the program. Development of the program management of electronic medical records of patients the center of metabolic diseases is essential, because today in Ukraine all the software that can keep track of patients who did not drawn enough attention to patients with metabolic diseases. Currently the software is installed in the center of metabolic diseases NCSH “OKHMATDYT.”

  18. Perception of climate change in patients with chronic lung disease

    Science.gov (United States)

    Götschke, Jeremias; Mertsch, Pontus; Bischof, Michael; Kneidinger, Nikolaus; Matthes, Sandhya; Renner, Ellen D.; Schultz, Konrad; Traidl-Hoffmann, Claudia; Duchna, Hans-Werner; Behr, Jürgen; Schmude, Jürgen; Huber, Rudolf M.

    2017-01-01

    Background Climate change affects human health. The respective consequences are predicted to increase in the future. Patients with chronic lung disease are particularly vulnerable to the involved environmental alterations. However, their subjective perception and reactions to these alterations remain unknown. Methods In this pilot study, we surveyed 172 adult patients who underwent pulmonary rehabilitation and 832 adult tourists without lung disease in the alpine region about their perception of being affected by climate change and their potential reaction to specific consequences. The patients’ survey also contained the COPD Assessment Test (CAT) to rate the severity of symptoms. Results Most of the patients stated asthma (73.8%), COPD (9.3%) or both (11.0%) as underlying disease while 5.8% suffered from other chronic lung diseases. Patients and tourists feel equally affected by current climate change in general, while allergic subjects in both groups feel significantly more affected (p = 0.04). The severity of symptoms assessed by CAT correlates with the degree of feeling affected (p<0.01). The main disturbing consequences for patients are decreased air quality, increasing numbers of ticks and mosquitos and a rising risk for allergy and extreme weather events such as thunderstroms, while tourists are less disturbed by these factors. Increasing number of heat-days is of little concern to both groups. Conclusion Overall patients are more sensitive to health-related consequences of climate change. Yet, the hazard of heat-days seems underestimated and awareness should be raised. PMID:29045479

  19. Periodontal disease in Chinese patients with systemic lupus erythematosus.

    Science.gov (United States)

    Zhang, Qiuxiang; Zhang, Xiaoli; Feng, Guijaun; Fu, Ting; Yin, Rulan; Zhang, Lijuan; Feng, Xingmei; Li, Liren; Gu, Zhifeng

    2017-08-01

    Disease of systemic lupus erythematosus (SLE) and periodontal disease (PD) shares the common multiple characteristics. The aims of the present study were to evaluate the prevalence and severity of periodontal disease in Chinese SLE patients and to determine the association between SLE features and periodontal parameters. A cross-sectional study of 108 SLE patients together with 108 age- and sex-matched healthy controls was made. Periodontal status was conducted by two dentists independently. Sociodemographic characteristics, lifestyle factors, medication use, and clinical parameters were also assessed. The periodontal status was significantly worse in SLE patients compared to controls. In univariate logistic regression, SLE had a significant 2.78-fold [95% confidence interval (CI) 1.60-4.82] increase in odds of periodontitis compared to healthy controls. Adjusted for potential risk factors, patients with SLE had 13.98-fold (95% CI 5.10-38.33) increased odds against controls. In multiple linear regression model, the independent variable negatively and significantly associated with gingival index was education (P = 0.005); conversely, disease activity (P periodontitis of SLE in multivariate logistic regression (OR 1.348; 95% CI: 1.183-1.536, P < 0.001). Chinese SLE patients were likely to suffer from higher odds of PD. These findings confirmed the importance of early interventions in combination with medical therapy. It is necessary for a close collaboration between dentists and clinicians when treating those patients.

  20. Hematologic Abnormalities in Cyanotic Congenital Heart Disease Patients

    Directory of Open Access Journals (Sweden)

    Soheila Chamanian

    2015-01-01

    Full Text Available Introduction: Patients with cyanotic heart disease may have an acceptable quality of life. However, they are invariably prone to several complications. The aim of this study is search about hematologic abnormalities in cyanotic congenital heart disease patients. Materials and Methods:  In this cross sectional study every cyanotic congenital heart disease patients who was referred to the adult congenital heart disease clinic was selected and asked of any possible hyperviscosity symptoms, gingival bleeding, Epistaxis, hemoptysis, hypermenorrhagia and gouty arthritis irrespective of their age, gender and primary diagnosis in a six-month period. In this regard, 02 saturation was obtained via pulse oximetry, an abdominal ultrasound was done in order to discover any gallstones and lab tests including CBC, coagulation parameters (bleeding time(BT,clotting time(CT, prothrombin time(PT,international ratio( INR, Ferritin, blood urea nitrogen (BUN and creatinine (Cr were provided as well. Results:  A total of 69 patients were enrolled in the present study. The mean age of the patients was 22.44±5.72 with a minimum of 15 and the maximum of 46 years old. Twenty two (34.4% of them were female and 45(65.6% were male. Conclusion: Our patients had less hyperuricemia, there is no correlation between hyperviscosity symptoms and haematocrit level and an inverse correlation between the Ferritin level and hyperviscosity symptoms were seen.