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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
#1
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
#2
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
#3
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 Colossio, 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
https://www.readbyqxmd.com/read/29103423/autoimmune-epilepsies
#4
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
https://www.readbyqxmd.com/read/29096685/clinical-spectrum-of-woolly-hair-indications-for-cerebral-involvement
#5
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
https://www.readbyqxmd.com/read/29049277/update-interim-guidance-for-the-diagnosis-evaluation-and-management-of-infants-with-possible-congenital-zika-virus-infection-united-states-october-2017
#6
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
https://www.readbyqxmd.com/read/29031832/initial-brain-aging-heterogeneity-of-mitochondrial-size-is-associated-with-decline-in-complex-i-linked-respiration-in-cortex-and-hippocampus
#7
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 (CSB(m/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 CSB(m/m) hippocampus, but not in CSB(m/m) cortex or WT brain...
August 12, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28988489/fatty-infiltration-of-the-minor-salivary-glands-is-a-selective-feature-of-aging-but-not-sj%C3%A3-gren-s-syndrome
#8
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
https://www.readbyqxmd.com/read/28987176/immune-mediated-disorders
#9
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
https://www.readbyqxmd.com/read/28987170/neuropathology-of-epilepsy
#10
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
https://www.readbyqxmd.com/read/28914199/clinical-applications-of-intravenous-immunoglobulins-in-child-neurology
#11
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 is fewer 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 immune-dysregulated intractable epilepsies such as autoimmune epilepsy and autoimmune Rasmussen encephalitis...
September 15, 2017: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/28865037/the-presence-of-anaemia-negatively-influences-survival-in-patients-with-polg-disease
#12
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
https://www.readbyqxmd.com/read/28692793/rare-x-chromosome-abnormalities-in-systemic-lupus-erythematosus-and-sj%C3%A3-gren-s-syndrome
#13
Rohan Sharma, Valerie M Harris, Joshua Cavett, Biji T Kurien, Ke Liu, Kristi A Koelsch, Anum Fayaaz, Kaustubh S Chaudhari, 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, 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, Gunnel Nordmark, Sara Magnusson Bucher, Per Eriksson, Roald Omdal, Nelson L Rhodus, Maureen Rischmueller, Michael Rohrer, Marie Wahren-Herlenius, Torsten Witte, Marta Alarcón-Riquelme, Xavier Mariette, Christopher J Lessard, John B Harley, Wan-Fai Ng, Astrid Rasmussen, Kathy L Sivils, R Hal Scofield
OBJECTIVE: Sjögren's syndrome (SS) and systemic lupus erythematosus (SLE) are related by clinical and serologic manifestations as well as genetic risks. Both diseases are more commonly found in women than in men, at a ratio of ~10 to 1. Common X chromosome aneuploidies, 47,XXY and 47,XXX, are enriched among men and women, respectively, in either disease, suggesting a dose effect on the X chromosome. METHODS: We examined cohorts of SS and SLE patients by constructing intensity plots of X chromosome single-nucleotide polymorphism alleles, along with determining the karyotype of selected patients...
November 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28640813/identification-of-a-sj%C3%A3-gren-s-syndrome-susceptibility-locus-at-oas1-that-influences-isoform-switching-protein-expression-and-responsiveness-to-type-i-interferons
#14
He Li, Tove Ragna Reksten, John A Ice, Jennifer A Kelly, Indra Adrianto, Astrid Rasmussen, Shaofeng Wang, Bo He, Kiely M Grundahl, Stuart B Glenn, Corinne Miceli-Richard, Simon Bowman, Sue Lester, Per Eriksson, Maija-Leena Eloranta, Johan G Brun, Lasse G Gøransson, Erna Harboe, Joel M Guthridge, Kenneth M Kaufman, Marika Kvarnström, Deborah S Cunninghame Graham, Ketan Patel, Adam J Adler, A Darise Farris, Michael T Brennan, James Chodosh, Rajaram Gopalakrishnan, Michael H Weisman, Swamy Venuturupalli, Daniel J Wallace, Kimberly S Hefner, Glen D Houston, Andrew J W Huang, Pamela J Hughes, David M Lewis, Lida Radfar, Evan S Vista, Contessa E Edgar, Michael D Rohrer, Donald U Stone, Timothy J Vyse, John B Harley, Patrick M Gaffney, Judith A James, Sean Turner, Ilias Alevizos, Juan-Manuel Anaya, Nelson L Rhodus, Barbara M Segal, Courtney G Montgomery, R Hal Scofield, Susan Kovats, Xavier Mariette, Lars Rönnblom, Torsten Witte, Maureen Rischmueller, Marie Wahren-Herlenius, Roald Omdal, Roland Jonsson, Wan-Fai Ng, Gunnel Nordmark, Christopher J Lessard, Kathy L Sivils
Sjögren's syndrome (SS) is a common, autoimmune exocrinopathy distinguished by keratoconjunctivitis sicca and xerostomia. Patients frequently develop serious complications including lymphoma, pulmonary dysfunction, neuropathy, vasculitis, and debilitating fatigue. Dysregulation of type I interferon (IFN) pathway is a prominent feature of SS and is correlated with increased autoantibody titers and disease severity. To identify genetic determinants of IFN pathway dysregulation in SS, we performed cis-expression quantitative trait locus (eQTL) analyses focusing on differentially expressed type I IFN-inducible transcripts identified through a transcriptome profiling study...
June 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28623992/near-infrared-fluorescence-lymphatic-imaging-of-klippel-tr%C3%A3-naunay-syndrome
#15
John C Rasmussen, Rodrick C Zvavanjanja, Melissa B Aldrich, Matthew R Greives, Eva M Sevick-Muraca
The relationship between lymphatic and venous malformations in Klippel-Trénaunay syndrome is difficult to assess. Herein the authors describe near-infrared fluorescence lymphatic imaging to assess the lymphatics of a subject with a large port-wine stain and right leg edema. Although lymphatic vessels in the medial, affected knee appeared dilated and perhaps tortuous, no definitive abnormal lymphatic pooling or propulsion was observed. The lymphatics in the affected limb were well defined but less numerous than in the contralateral limb, and active, contractile function was observed in all vessels...
July 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28599949/quetiapine-extended-release-versus-aripiprazole-in-children-and-adolescents-with-first-episode-psychosis-the-multicentre-double-blind-randomised-tolerability-and-efficacy-of-antipsychotics-tea-trial
#16
Anne Katrine Pagsberg, Pia Jeppesen, Dea Gowers Klauber, Karsten Gjessing Jensen, Ditte Rudå, Marie Stentebjerg-Olesen, Peter Jantzen, Simone Rasmussen, Eva Ann-Sofie Saldeen, Maj-Britt Glenn Lauritsen, Niels Bilenberg, Anne Dorte Stenstrøm, Louise Nyvang, Sarah Madsen, Thomas M Werge, Theis Lange, Christian Gluud, Maria Skoog, Per Winkel, Jens Richardt M Jepsen, Birgitte Fagerlund, Christoph U Correll, Anders Fink-Jensen
BACKGROUND: Head-to-head trials to guide antipsychotic treatment choices for paediatric psychosis are urgently needed because extrapolations from adult studies might not be implementable. In this superiority trial with two-sided significance testing, we aimed to compare the efficacy and safety of quetiapine-extended release (quetiapine-ER) versus aripiprazole in children and adolescents with first-episode psychosis, to determine whether differences between the two treatments were sufficient to guide clinicians in their choice of one drug over the other...
August 2017: Lancet Psychiatry
https://www.readbyqxmd.com/read/28589207/prediction-and-in-vitro-verification-of-potential-ctl-epitopes-conserved-among-prrsv-2-strains
#17
Simon Welner, Morten Nielsen, Michael Rasmussen, Søren Buus, Gregers Jungersen, Lars Erik Larsen
Porcine Reproductive and Respiratory Syndrome Virus (PRRSV) is the causative agent of one of the most important porcine diseases with a high impact on animal health, welfare, and production economy. PRRSV exhibits a multitude of immunoevasive strategies that, in combination with a very high mutation rate, has hampered the development of safe and broadly protective vaccines. Aiming at a vaccine inducing an effective cytotoxic T cell response, a bioinformatics approach was taken to identify conserved PRRSV-derived peptides predicted to react broadly with common swine leukocyte antigen (SLA) class I alleles...
June 7, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28570796/neonatal-discontinuation-syndrome-in-serotonergic-antidepressant-exposed-neonates
#18
MULTICENTER STUDY
Amy Yang, Jody D Ciolino, Emily Pinheiro, Laura J Rasmussen-Torvik, Dorothy K Y Sit, Katherine L Wisner
OBJECTIVE: To determine whether infants exposed in utero to serotonin reuptake inhibitor (SRI) antidepressants or a DSM-IV-TR-defined mood disorder have significantly more neonatal discontinuation signs compared to an unexposed group of infants at 2-4 weeks after birth. METHODS: This secondary analysis was derived from 2 observational studies with enrollment from July 2000 to December 2011 in Cleveland, Ohio, and Pittsburgh, Pennsylvania. Mothers (n = 214) belonged to one of 3 groups based on exposure status during pregnancy: (1) Comparison-women who did not take psychotropics during pregnancy and had no major mood disorder; (2) SRI-exposed-women with a mood disorder who were taking an SRI but no benzodiazepines; and (3) Mood Disorder-women with depression or bipolar disorder who did not take psychotropic medications...
May 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28561207/genetic-phenotypic-and-interferon-biomarker-status-in-adar1-related-neurological-disease
#19
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, Tracy A Briggs, Annabel C E Burton, Maria Luisa Carpanelli, Alfredo M Cerisola, Cindy Colson, Russell C Dale, Federica Rachele Danti, Niklas Darin, Begoña De Azua, Valentina De Giorgis, Christian G L De Goede, Isabelle Desguerre, Corinne De Laet, Atieh Eslahi, Michael C Fahey, Penny Fallon, Alex Fay, Elisa Fazzi, Mark P Gorman, Nirmala Rani Gowrinathan, Marie Hully, Manju A Kurian, Nicolas Leboucq, Jean-Pierre S-M Lin, Matthew A Lines, Soe S Mar, Reza Maroofian, Laura Martí-Sanchez, Gary McCullagh, Majid Mojarrad, Vinodh Narayanan, Simona Orcesi, Juan Dario Ortigoza-Escobar, Belén Pérez-Dueñas, Florence Petit, Keri M Ramsey, Magnhild Rasmussen, François Rivier, Pilar Rodríguez-Pombo, Agathe Roubertie, Tommy I Stödberg, Mehran Beiraghi Toosi, Annick Toutain, Florence Uettwiller, Nicole Ulrick, Adeline Vanderver, Amy Waldman, John H Livingston, Yanick J Crow
We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p...
June 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28542383/performance-in-eyeblink-conditioning-is-age-and-sex-dependent
#20
Karolina Löwgren, Rasmus Bååth, Anders Rasmussen, Henk-Jan Boele, Sebastiaan K E Koekkoek, Chris I De Zeeuw, Germund Hesslow
A growing body of evidence suggests that the cerebellum is involved in both cognition and language. Abnormal cerebellar development may contribute to neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD), autism, fetal alcohol syndrome, dyslexia, and specific language impairment. Performance in eyeblink conditioning, which depends on the cerebellum, can potentially be used to clarify the neural mechanisms underlying the cerebellar dysfunction in disorders like these. However, we must first understand how the performance develops in children who do not have a disorder...
2017: PloS One
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