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rasmussen syndrome

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https://www.readbyqxmd.com/read/29750339/pre-and-postsurgical-cognitive-trajectories-and-quantitative-mri-changes-in-rasmussen-syndrome
#1
Sarah R Rudebeck, Sara Shavel-Jessop, Sophia Varadkar, Tamsin Owen, J Helen Cross, Faraneh Vargha-Khadem, Torsten Baldeweg
OBJECTIVE: To quantify the longitudinal cognitive trajectory, before and after surgery, of Rasmussen syndrome (RS), a rare disease characterized by focal epilepsy and progressive atrophy of one cerebral hemisphere. METHOD: Thirty-two patients (mean age = 6.7 years; 17 male, 16 left hemispheres affected) were identified from hospital records. The changes in intelligence scores during 2 important phases in the patients' journey to treatment were investigated: (1) during the preoperative period (n = 28, mean follow-up 3...
May 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29743878/identification-and-functional-characterization-of-a-novel-mutation-in-the-human-calcium-sensing-receptor-that-co-segregates-with-autosomal-dominant-hypocalcemia
#2
Anne Qvist Rasmussen, Niklas Rye Jørgensen, Peter Schwarz
The human calcium-sensing receptor ( CASR ) is the key controller of extracellular Cao 2+ homeostasis, and different mutations in the CASR gene have been linked to different calcium diseases, such as familial hypocalciuric hypercalcemia, severe hyperparathyroidism, autosomal-dominant hypocalcemia (ADH), and Bartter's syndrome type V. In this study, two generations of a family with biochemically and clinically confirmed ADH who suffered severe muscle pain, arthralgia, tetany, abdominal pain, and fatigue were evaluated for mutations in the CASR gene...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29732709/restoration-of-enteroendocrine-and-pancreatic-function-after-internal-hernia-and-short-bowel-syndrome-in-a-young-woman-with-gastric-bypass-a-2-year-follow-up
#3
Märta Borghede, Lars Vinter-Jensen, Henrik H Rasmussen, Simon Veedfald, Jens F Rehfeld, Bolette Hartmann, Jens J Holst, Filip K Knop, David P Sonne
A serious complication to the laparoscopic Roux-en-Y gastric bypass (RYGB) is internal hernia, which can lead to massive bowel necrosis that may result in short bowel syndrome. We determined postprandial enteropancreatic hormonal responses and metabolites in a 22-year-old nondiabetic woman with a history of RYGB experiencing severe internal herniation with widespread bowel necrosis. Extensive resections were performed leaving her with a saliva fistula from the pouch-enteric anastomosis, an intact duodenum, 15 cm of jejunum, 35 cm of ileum, and intact colon...
May 2018: Physiological Reports
https://www.readbyqxmd.com/read/29707769/prognostic-scoring-systems-for-myelodysplastic-syndromes-mds-in-a-population-based-setting-a-report-from-the-swedish-mds-register
#4
Daniel Moreno Berggren, Yasin Folkvaljon, Marie Engvall, Johan Sundberg, Mats Lambe, Petar Antunovic, Hege Garelius, Fryderyk Lorenz, Lars Nilsson, Bengt Rasmussen, Sören Lehmann, Eva Hellström-Lindberg, Martin Jädersten, Elisabeth Ejerblad
The myelodysplastic syndromes (MDS) have highly variable outcomes and prognostic scoring systems are important tools for risk assessment and to guide therapeutic decisions. However, few population-based studies have compared the value of the different scoring systems. With data from the nationwide Swedish population-based MDS register we validated the International Prognostic Scoring System (IPSS), revised IPSS (IPSS-R) and the World Health Organization (WHO) Classification-based Prognostic Scoring System (WPSS)...
April 29, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29672561/rich-table-but-short-life-diffuse-idiopathic-skeletal-hyperostosis-in-danish-astronomer-tycho-brahe-1546-1601-and-its-possible-consequences
#5
Sacha Kacki, Petr Velemínský, Niels Lynnerup, Sylva Kaupová, Alizé Lacoste Jeanson, Ctibor Povýšil, Martin Horák, Jan Kučera, Kaare Lund Rasmussen, Jaroslav Podliska, Zdeněk Dragoun, Jiří Smolík, Jens Vellev, Jaroslav Brůžek
The exhumation of Danish astronomer Tycho Brahe (1546-1601) was performed in 2010 to verify speculative views on the cause of his death. Previous analyses of skeletal and hair remains recovered from his grave refuted the presumption that he died from poisoning. These studies also outlined the possibility that he actually died from an acute illness, echoing the rather vague and inaccurate testimony of some historical records. We performed a detailed paleopathological analysis of Tycho Brahe's skeletal remains, along with a reconstruction of his diet based on carbon and nitrogen stable isotopes analysis and an estimate of his physical status (relative body fat) based on medullar and cortical dimensions of the femoral shaft...
2018: PloS One
https://www.readbyqxmd.com/read/29629902/humanized-mouse-model-of-rasmussen-s-encephalitis-supports-the-immune-mediated-hypothesis
#6
Hania Kebir, Lionel Carmant, François Fontaine, Kathie Béland, Ciprian M Bosoi, Nathalie T Sanon, Jorge I Alvarez, Sébastien Desgent, Camille L Pittet, David Hébert, Marie-Josée Langlois, Rose-Marie Rébillard, Dang K Nguyen, Cécile Cieuta-Walti, Gregory L Holmes, Howard P Goodkin, John R Mytinger, Mary B Connolly, Alexandre Prat, Elie Haddad
Rasmussen's encephalitis (RE) is a chronic inflammatory brain disorder that causes frequent seizures and unilateral hemispheric atrophy with progressive neurological deficits. Hemispherectomy remains the only treatment that leads to seizure freedom for this refractory epileptic syndrome. The absence of an animal model of disease has been a major obstacle hampering the development of effective therapies. Here, we describe an experimental mouse model that shares several clinical and pathological features with the human disease...
April 9, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29623081/a-new-in-vivo-model-to-study-protective-immunity-to-zika-virus-infection-in-mice-with-intact-type-i-interferon-signaling
#7
Loulieta Nazerai, Amalie Skak Schøller, Peter Overbeck Sharma Rasmussen, Søren Buus, Anette Stryhn, Jan Pravsgaard Christensen, Allan Randrup Thomsen
The association between recent Zika virus (ZIKV) infection and neurological complications, microcephaly in the fetus, and Guillain-Barré syndrome in adults underscores the necessity for a protective vaccine. Rational vaccine development requires an in-depth understanding of the mechanisms which could protect against infection with this virus. However, so far, such an analysis has been hampered by the absence of a suitable small animal model. Unlike the situation in humans, ZIKV only replicates effectively in the peripheral organs of mice, if type I IFN signaling is interrupted...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29623027/preclinical-to-clinical-translation-of-studies-of-transcranial-direct-current-stimulation-in-the-treatment-of-epilepsy-a-systematic-review
#8
Gabriela G Regner, Patrícia Pereira, Douglas T Leffa, Carla de Oliveira, Rafael Vercelino, Felipe Fregni, Iraci L S Torres
Epilepsy is a chronic brain syndrome characterized by recurrent seizures resulting from excessive neuronal discharges. Despite the development of various new antiepileptic drugs, many patients are refractory to treatment and report side effects. Non-invasive methods of brain stimulation, such as transcranial direct current stimulation (tDCS), have been tested as alternative approaches to directly modulate the excitability of epileptogenic neural circuits. Although some pilot and initial clinical studies have shown positive results, there is still uncertainty regarding the next steps of investigation in this field...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29574788/mechanisms-underlying-lesion-development-and-lesion-distribution-in-cns-autoimmunity
#9
REVIEW
Maren Lindner, Luisa Klotz, Heinz Wiendl
It is widely accepted that development of autoimmunity in the central nervous system (CNS) is triggered by autoreactive T cells, that are activated in the periphery and gain the capacity to migrate through endothelial cells at the blood-brain-barrier (BBB) into the CNS. Upon local reactivation, an inflammatory cascade is initiated, that subsequently leads to a recruitment of additional immune cells ultimately causing demyelination and axonal damage. Even though the interaction of immune cells with the BBB has been in the focus of research for many years, the exact mechanisms of how immune cells enter and exit the CNS remains poorly understood...
March 25, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29543325/pharmacological-interventions-for-benzodiazepine-discontinuation-in-chronic-benzodiazepine-users
#10
REVIEW
Lone Baandrup, Bjørn H Ebdrup, Jesper Ø Rasmussen, Jane Lindschou, Christian Gluud, Birte Y Glenthøj
BACKGROUND: Prolonged treatment with benzodiazepines is common practice despite clinical recommendations of short-term use. Benzodiazepines are used by approximately 4% of the general population, with increased prevalence in psychiatric populations and the elderly. After long-term use it is often difficult to discontinue benzodiazepines due to psychological and physiological dependence. This review investigated if pharmacological interventions can facilitate benzodiazepine tapering. OBJECTIVES: To assess the benefits and harms of pharmacological interventions to facilitate discontinuation of chronic benzodiazepine use...
March 15, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29531773/unique-clinical-characteristics-autoantibodies-and-medication-use-in-native-american-patients-with-systemic-lupus-erythematosus
#11
Joseph M Kheir, Carla J Guthridge, Jonathon R Johnston, Lucas J Adams, Astrid Rasmussen, Timothy F Gross, Melissa E Munroe, Rebecka L Bourn, Kathy L Sivils, Joel M Guthridge, Michael H Weisman, Daniel J Wallace, Juan-Manuel Anaya, Adriana Rojas Villarraga, James N Jarvis, John B Harley, Judith A James
Objective: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with varied morbidity and mortality. We assessed clinical presentations, autoantibody specificities and therapeutic interventions in Native American (NA) patients with SLE. Methods: Patients with SLE meeting 1997 American College of Rheumatology classification criteria (n=3148) were enrolled between 1992 and 2010 in the multiethnic, cross-sectional Lupus Family Registry and Repository...
2018: Lupus Science & Medicine
https://www.readbyqxmd.com/read/29457375/evidence-of-alternative-modes-of-b-cell-activation-involving-acquired-fab-regions-of-n-glycosylation-in-antibody-secreting-cells-infiltrating-the-labial-salivary-glands-of-patients-with-sj%C3%A3-gren-s-syndrome
#12
Kristi A Koelsch, Joshua Cavett, Kenneth Smith, Jacen S Moore, Sylvain D Lehoux, Nan Jia, Tim Mather, Syed M S Quadri, Astrid Rasmussen, C Erick Kaufman, David M Lewis, Lida Radfar, Teresa A Scordino, Christopher J Lessard, Biji T Kurien, Richard D Cummings, Judith A James, Kathy L Sivils, A Darise Farris, R Hal Scofield
OBJECTIVE: To better understand the role of B cells, the potential mechanisms responsible for their aberrant activation, and the production of autoantibodies in the pathogenesis of Sjögren's syndrome (SS), this study explored patterns of selection pressure and sites of N-glycosylation acquired by somatic mutation (acN-glyc) in the IgG variable (V) regions of antibody-secreting cells (ASCs) isolated from the minor salivary glands of patients with SS and non-SS control patients with sicca symptoms...
February 18, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29437047/public-health-approach-to-addressing-the-needs-of-children-affected-by-congenital-zika-syndrome
#13
Cheryl S Broussard, Carrie K Shapiro-Mendoza, Georgina Peacock, Sonja A Rasmussen, Cara T Mai, Emily E Petersen, Romeo R Galang, Kimberly Newsome, Megan R Reynolds, Suzanne M Gilboa, Coleen A Boyle, Cynthia A Moore
We have learned much about the short-term sequelae of congenital Zika virus (ZIKV) infection since the Centers for Disease Control and Prevention activated its ZIKV emergency response in January 2016. Nevertheless, gaps remain in our understanding of the full spectrum of adverse health outcomes related to congenital ZIKV infection and how to optimize health in those who are affected. To address the remaining knowledge gaps, support affected children so they can reach their full potential, and make the best use of available resources, a carefully planned public health approach in partnership with pediatric health care providers is needed...
February 2018: Pediatrics
https://www.readbyqxmd.com/read/29433426/older-adults-perceptions-and-informational-needs-regarding-frailty
#14
Nancy L Schoenborn, Sarah E Van Pilsum Rasmussen, Qian-Li Xue, Jeremy D Walston, Mara A McAdams-Demarco, Dorry L Segev, Cynthia M Boyd
BACKGROUND: Frailty has been recognized as an important medical syndrome in older adults. Growing literature supports the clinical application of frailty but US older adults' perceptions of frailty have not been explored. We aim to examine perceptions and informational needs about frailty among older adults. METHODS: This was a qualitative study involving focus groups of community-dwelling older adults with diverse age and frailty status. We explored participants' beliefs and knowledge about frailty and informational needs about frailty as a medical syndrome...
February 13, 2018: BMC Geriatrics
https://www.readbyqxmd.com/read/29331846/functional-neuroimaging-in-rasmussen-syndrome
#15
Ichiro Kuki, Kazumi Matsuda, Yuko Kubota, Tetsuhiro Fukuyama, Yukitoshi Takahashi, Yushi Inoue, Haruo Shintaku
PURPOSE: For a diagnosis of Rasmussen syndrome (RS), clinical course together with electroencephalography (EEG) and magnetic resonance imaging (MRI) findings are considered important, but there are few reports on functional neuroimaging. This study investigated cerebral blood flow (CBF)-single photon emission computed tomography (SPECT), central benzodiazepine receptor (BZR)-SPECT, and fluorine-18 fluorodeoxy glucose-positron emission tomography (FDG-PET) in RS patients, and correlated neuroimaging results with MRI and pathological findings...
February 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29315936/biosynthesis-of-bioactive-diterpenoids-in-the-medicinal-plant-vitex-agnus-castus
#16
Allison M Heskes, Tamil C M Sundram, Berin A Boughton, Niels B Jensen, Nikolaj L Hansen, Christoph Crocoll, Federico Cozzi, Simon Rasmussen, Britta Hamberger, Björn Hamberger, Dan Staerk, Birger L Møller, Irini Pateraki
Vitex agnus-castus L. (Lamiaceae) is a medicinal plant historically used throughout the Mediterranean region to treat menstrual cycle disorders, and is still used today as a clinically effective treatment for premenstrual syndrome. The pharmaceutical activity of the plant extract is linked to its ability to lower prolactin levels. This feature has been attributed to the presence of dopaminergic diterpenoids that can bind to dopamine receptors in the pituitary gland. Phytochemical analyses of V. agnus-castus show that it contains an enormous array of structurally related diterpenoids and, as such, holds potential as a rich source of new dopaminergic drugs...
March 2018: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/29195081/corrigendum-to-klinefelter-s-syndrome-47-xxy-is-in-excess-among-men-with-sj%C3%A3-gren-s-syndrome-clin-immunol-168-2016-25-29
#17
Valerie M Harris, Rohan Sharma, Joshua Cavett, Biji T Kurien, Ke Liu, Kristi A Koelsch, Astrid Rasmussen, Lida Radfar, David Lewis, Donald U Stone, C Erick Kaufman, Shibo Li, Barbara Segal, Daniel J Wallace, Michael H Weisman, Swamy Venuturupalli, Jennifer A Kelly, Marta E Alarcon-Riquelme, Bernardo Pons-Estel, Roland Jonsson, Xianglan Lu, Jacques-Eric Gottenberg, Juan-Manuel Anaya, Deborah S Cunninghame-Graham, Andrew J W Huang, Michael T Brennan, Pamela Hughes, Ilias Alevizos, Corinne Miceli-Richard, Edward C Keystone, Vivian P Bykerk, Gideon Hirschfield, Gang Xie, Katherine A Siminovitch, Wan-Fai Ng, Gunnel Nordmark, Sara Magnusson Bucher, Per Eriksson, Roald Omdal, Nelson L Rhodus, Maureen Rischmueller, Michael Rohrer, Marie Wahren-Herlenius, Torsten Witte, Xavier Mariette, Christopher J Lessard, John B Harley, Kathy L Sivils, R Hal Scofield
No abstract text is available yet for this article.
February 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29148407/minor-salivary-gland-fibrosis-in-sj%C3%A3-gren-s-syndrome-is-elevated-associated-with-focus-score-and-not-solely-a-consequence-of-aging
#18
Kerry M Leehan, Nathan P Pezant, Astrid Rasmussen, Kiely Grundahl, Jacen S Moore, Lida Radfar, David M Lewis, Donald U Stone, Christopher J Lessard, Nelson L Rhodus, Barbara M Segal, R Hal Scofield, Kathy L Sivils, Courtney Montgomery, A Darise Farris
OBJECTIVES: Evaluate the presence of minor salivary gland (SG) fibrosis in primary Sjögren's syndrome (pSS) as a function of disease pathology or a consequence of ageing. METHODS: Subjects with sicca symptoms attending a Sjögren's research clinic were classified by American European Consensus Group (AECG) criteria as either pSS or non-SS (nSS). Discovery (n=34 pSS, n=28 nSS) and replication (n=35 pSS, n=31 nSS) datasets were evaluated. Minor SG cross-sections from haematoxylin and eosin stained slides were imaged, digitally reconstructed and analysed for percent area fibrosis...
October 23, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29115952/no-evidence-of-enteric-viral-involvement-in-the-new-neonatal-porcine-diarrhoea-syndrome-in-danish-pigs
#19
N B Goecke, C K Hjulsager, H Kongsted, M Boye, S Rasmussen, F Granberg, T K Fischer, S E Midgley, L D Rasmussen, Ø Angen, J P Nielsen, S E Jorsal, L E Larsen
BACKGROUND: The aim of this study was to investigate whether the syndrome New Neonatal Porcine Diarrhoea Syndrome (NNPDS) is associated with a viral aetiology. Four well-managed herds experiencing neonatal diarrhoea and suspected to be affected by NNPDS were included in a case-control set up. A total of 989 piglets were clinically examined on a daily basis. Samples from diarrhoeic and non-diarrhoeic piglets at the age of three to seven days were selected for extensive virological examination using specific real time polymerase chain reactions (qPCRs) and general virus detection methods...
November 7, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/29109358/burnout-syndrome-as-an-occupational-disease-in-the-european-union-an-exploratory-study
#20
Andrea Lastovkova, Melanie Carder, Hans Martin Rasmussen, Lars Sjoberg, Gerda J de Groene, Riitta Sauni, Jiri Vevoda, Sarka Vevodova, Gerard Lasfargues, Magnus Svartengren, Marek Varga, Claudio Colosio, Daniela Pelclova
The risk of psychological disorders influencing the health of workers increases in accordance with growing requirements on employees across various professions. This study aimed to compare approaches to the burnout syndrome in European countries. A questionnaire focusing on stress-related occupational diseases was distributed to national experts of 28 European Union countries. A total of 23 countries responded. In 9 countries (Denmark, Estonia, France, Hungary, Latvia, Netherlands, Portugal, Slovakia and Sweden) burnout syndrome may be acknowledged as an occupational disease...
April 7, 2018: Industrial Health
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