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rasmussen syndrome

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
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
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, potential mechanisms for their aberrant activation, and the production of autoantibodies in the pathogenesis of Sjögren's Syndrome (SS), we explored selection pressures and N-glycosylation acquired by somatic mutation (acN-glyc) in the immunoglobulin (Ig) variable regions (V-regions) of antibody secreting cells (ASCs) isolated from the minor salivary glands of SS patients and non-SS controls with sicca symptoms. METHODS: We report a novel method to produce and characterize recombinant monoclonal antibodies (mAbs) from SS patient and control labial salivary gland single-cell sorted ASC infiltrates that can be utilized to concurrently probe any other expressed genes...
February 18, 2018: Arthritis & Rheumatology
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
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
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
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
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
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
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
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...
November 3, 2017: Industrial Health
Anusha K Yeshokumar, Carlos A Pardo
Autoimmune epilepsies describe clinical syndromes wherein the immune system is suspected to be involved in the pathogenesis of seizures or as a mechanism for neuronal injury following seizures. These diseases typically affect otherwise healthy children and are characterized by explosive onset of focal seizures, encephalopathy, cognitive deterioration, or other focal neurological deficits, or all of these. Traditional neurological diagnostics lack sensitivity and specificity in the diagnosis of autoimmune epilepsies, and results must be considered in the clinical context...
August 2017: Seminars in Pediatric Neurology
Piero Pavone, Raffaele Falsaperla, Massimo Barbagallo, Agata Polizzi, Andrea D Praticò, Martino Ruggieri
BACKGROUND: Woolly Hair is an uncommon congenital anomaly of the scalp hair presenting with strongly coiled hair involving a localized area of the scalp or covering the entire side and occurring in non-black people. Isolated or localized wooly hair is usually benign and is not related to other disorders and/or complications. On the contrary, the generalized type may be related to disorders and syndromes affecting heart, cutis, liver and gastrointestinal organs. Among the syndromes presenting with wooly hair, the most known are the Naxos syndrome, the Carvajal-Huerta syndrome, the wooly hair/hypotrichosis, the ectodermal dysplasia-skin fragility, the tricho-hepato-enteric syndrome...
November 2, 2017: Italian Journal of Pediatrics
Tolulope Adebanjo, Shana Godfred-Cato, Laura Viens, Marc Fischer, J Erin Staples, Wendi Kuhnert-Tallman, Henry Walke, Titilope Oduyebo, Kara Polen, Georgina Peacock, Dana Meaney-Delman, Margaret A Honein, Sonja A Rasmussen, Cynthia A Moore
CDC has updated its interim guidance for U.S. health care providers caring for infants with possible congenital Zika virus infection (1) in response to recently published updated guidance for health care providers caring for pregnant women with possible Zika virus exposure (2), unknown sensitivity and specificity of currently available diagnostic tests for congenital Zika virus infection, and recognition of additional clinical findings associated with congenital Zika virus infection. All infants born to mothers with possible Zika virus exposure* during pregnancy should receive a standard evaluation at birth and at each subsequent well-child visit including a comprehensive physical examination, age-appropriate vision screening and developmental monitoring and screening using validated tools (3-5), and newborn hearing screen at birth, preferably using auditory brainstem response (ABR) methodology (6)...
October 20, 2017: MMWR. Morbidity and Mortality Weekly Report
Kirsten Thomsen, Takashi Yokota, Md Mahdi Hasan-Olive, Niloofar Sherazi, Nima Borhan Fakouri, Claus Desler, Christine Elisabeth Regnell, Steen Larsen, Lene Juel Rasmussen, Flemming Dela, Linda Hildegard Bergersen, Martin Lauritzen
Brain aging is accompanied by declining mitochondrial respiration. We hypothesized that mitochondrial morphology and dynamics would reflect this decline. Using hippocampus and frontal cortex of a segmental progeroid mouse model lacking Cockayne syndrome protein B (CSBm/m ) and C57Bl/6 (WT) controls and comparing young (2-5 months) to middle-aged mice (13-14 months), we found that complex I-linked state 3 respiration (CI) was reduced at middle age in CSBm/m hippocampus, but not in CSBm/m cortex or WT brain...
January 2018: Neurobiology of Aging
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, C Erick Kaufman, R Hal Scofield, Kathy L Sivils, Courtney Montgomery, A Darise Farris
OBJECTIVE: Determine the presence and assess the extent of fatty infiltration of the minor salivary glands (SG) of primary SS patients (pSS) as compared to those with non-SS sicca (nSS). METHODS: Minor SG biopsy samples from 134 subjects with pSS (n = 72) or nSS (n = 62) were imaged. Total area and fatty replacement area for each glandular cross-section (n = 4-6 cross-sections per subject) were measured using Image J (National Institutes of Health, Bethesda, MD)...
October 8, 2017: Autoimmunity
Romana Höftberger, Hans Lassmann
Paraneoplastic and autoimmune encephalitis comprise a group of immune-mediated disorders that are associated with different immune effector mechanisms. Classic paraneoplastic neurologic syndromes are triggered by an antitumor immune response. The disease is considered to result from a T-cell response; in addition, patients harbour high titers of autoantibodies against intracellular antigens that are considered as epiphenomenon but are useful diagnostic markers. Neuropathology consists of T-cell-dominated inflammation, marked neuronal loss, and microglial activation with upregulation of HLA-DR...
2017: Handbook of Clinical Neurology
Eleonora Aronica, Angelika Mühlebner
Epilepsy is one of the most common neurologic disorders, affecting about 50 million people worldwide. The disease is characterized by recurrent seizures, which are due to aberrant neuronal networks resulting in synchronous discharges. The term epilepsy encompasses a large spectrum of syndromes and diseases with different etiopathogenesis. The recent development of imaging and epilepsy surgery techniques is now enabling the identification of structural abnormalities that are part of the epileptic network, and the removal of these lesions may result in control of seizures...
2017: Handbook of Clinical Neurology
Maria Gogou, Efimia Papadopoulou-Alataki, Martha Spilioti, Sofia Alataki, Athanasios Evangeliou
BACKGROUND: While there are guidelines for the use of intravenous immunoglobulins in children with Guillain-Barre syndrome and myasthenia gravis based on high-level evidence studies, data are scarce for the majority of neurologic disorders in this age group. Neuronal antibodies are detected in children with seizures of autoimmune etiology. Intravenous immunoglobulins with their broad immunomodulatory mechanism of action could be ideally effective in different forms of immunedysregulated intractable epilepsies such as autoimmune epilepsy and autoimmune Rasmussen encephalitis...
November 10, 2017: Current Pharmaceutical Biotechnology
Omar Hikmat, Tzoulis Charalampos, Claus Klingenberg, Magnhild Rasmussen, Chantal M E Tallaksen, Eylert Brodtkorb, Torunn Fiskerstrand, Robert McFarland, Shamima Rahman, Laurence A Bindoff
BACKGROUND: Mitochondria play an important role in iron metabolism and haematopoietic cell homeostasis. Recent studies in mice showed that a mutation in the catalytic subunit of polymerase gamma (POLG) was associated with haematopoietic dysfunction including anaemia. The aim of this study was to analyse the frequency of anaemia in a large cohort of patients with POLG related disease. METHODS: We conducted a multi-national, retrospective study of 61 patients with confirmed, pathogenic biallelic POLG mutations from six centres, four in Norway and two in the United Kingdom...
September 1, 2017: Journal of Inherited Metabolic Disease
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