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rasmussen syndrome

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https://www.readbyqxmd.com/read/27913085/anti-n-methyl-d-aspartate-receptor-encephalitis-and-rasmussen-like-syndrome-an-association
#1
Kevin Gurcharran, Shefali Karkare
BACKGROUND: N-methyl-D-aspartate (NMDA) receptor encephalitis is an immune-mediated condition that has a broad spectrum of manifestations, including seizures, coma, psychosis, and focal neurological deficits. Although usually a diffuse process, unihemispheric involvement mimicking early stages of Rasmussen encephalitis can occur. Rasmussen's encephalitis is a unique syndrome characterized by progressive hemiplegia, drug-resistant focal epilepsy, cognitive decline, and hemispheric brain atrophy contralateral to the hemiplegia...
October 11, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27900773/systematic-review-of-immunoglobulin-use-in-paediatric-neurological-and-neurodevelopmental-disorders
#2
REVIEW
Jonathan Gadian, Emma Kirk, Kate Holliday, Ming Lim, Michael Absoud
AIM: A systematic literature review of intravenous immunoglobulin (IVIG) treatment of paediatric neurological conditions was performed to summarize the evidence, provide recommendations, and suggest future research. METHOD: A MEDLINE search for articles reporting on IVIG treatment of paediatric neuroinflammatory, neurodevelopmental, and neurodegenerative conditions published before September 2015, excluding single case reports and those not in English. Owing to heterogeneous outcome measures, meta-analysis was not possible...
November 30, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27899373/influence-of-geolocation-and-ethnicity-on-the-phenotypic-expression-of-primary-sj%C3%A3-gren-s-syndrome-at-diagnosis-in-8310-patients-a-cross-sectional-study-from-the-big-data-sj%C3%A3-gren-project-consortium
#3
Pilar Brito-Zerón, Nihan Acar-Denizli, Margit Zeher, Astrid Rasmussen, Raphaele Seror, Elke Theander, Xiaomei Li, Chiara Baldini, Jacques-Eric Gottenberg, Debashish Danda, Luca Quartuccio, Roberta Priori, Gabriela Hernandez-Molina, Aike A Kruize, Valeria Valim, Marika Kvarnstrom, Damien Sene, Roberto Gerli, Sonja Praprotnik, David Isenberg, Roser Solans, Maureen Rischmueller, Seung-Ki Kwok, Gunnel Nordmark, Yasunori Suzuki, Roberto Giacomelli, Valerie Devauchelle-Pensec, Michele Bombardieri, Benedikt Hofauer, Hendrika Bootsma, Johan G Brun, Guadalupe Fraile, Steven E Carsons, Tamer A Gheita, Jacques Morel, Cristina Vollenveider, Fabiola Atzeni, Soledad Retamozo, Ildiko Fanny Horvath, Kathy Sivils, Thomas Mandl, Pulukool Sandhya, Salvatore De Vita, Jorge Sanchez-Guerrero, Eefje van der Heijden, Virginia Fernandes Moça Trevisani, Marie Wahren-Herlenius, Xavier Mariette, Manuel Ramos-Casals
OBJECTIVES: To analyse the influence of geolocation and ethnicity on the clinical presentation of primary Sjögren's syndrome (SjS) at diagnosis. METHODS: The Big Data Sjögren Project Consortium is an international, multicentre registry designed in 2014. By January 2016, 20 centres from five continents were participating. Multivariable logistic regression analyses were performed. RESULTS: We included 7748 women (93%) and 562 men (7%), with a mean age at diagnosis of primary SjS of 53 years...
November 29, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27855765/-pronator-teres-syndrome-is-a-rare-but-important-cause-of-pain-in-the-forearm
#4
Mathias Bæk Rasmussen, Søren Rasmussen Deutch
Pronator teres syndrome is a rare but clinically important condition which can cause pain in the forearm. It is a com-pression neuropathy due to compression of the median nerve proximal in the forearm. In this case report we de-scribe a 69-year-old male patient with pain in both forearms in more than ten years. After surgical decompression of the median nerve in both arms he experienced almost complete relief of his symptoms.
November 14, 2016: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/27830116/headache-maybe-the-initial-symptom-in-rasmussen-s-syndrome-a-child-case-report
#5
Zhiliang Yang, Guilian Sun
OBJECTIVE: The aim of this case report was to study that headache maybe the initial symptom in Rasmussen's syndrome (RS). INTRODUCTION: Headache has not yet been reported as prodromal symptom. METHODS: We studied a case of RS in which the patient experienced a recurring headache for about one year prior to the onset of partial seizures. RESULTS: Magnetic resonance imaging (MRI) results were normal when the headache first occurred and showed left brain atrophy three years later...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27812690/characterizing-the-pattern-of-anomalies-in-congenital-zika-syndrome-for-pediatric-clinicians
#6
Cynthia A Moore, J Erin Staples, William B Dobyns, André Pessoa, Camila V Ventura, Eduardo Borges da Fonseca, Erlane Marques Ribeiro, Liana O Ventura, Norberto Nogueira Neto, J Fernando Arena, Sonja A Rasmussen
Importance: Zika virus infection can be prenatally passed from a pregnant woman to her fetus. There is sufficient evidence to conclude that intrauterine Zika virus infection is a cause of microcephaly and serious brain anomalies, but the full spectrum of anomalies has not been delineated. To inform pediatric clinicians who may be called on to evaluate and treat affected infants and children, we review the most recent evidence to better characterize congenital Zika syndrome. Observations: We reviewed published reports of congenital anomalies occurring in fetuses or infants with presumed or laboratory-confirmed intrauterine Zika virus infection...
November 3, 2016: JAMA Pediatrics
https://www.readbyqxmd.com/read/27789466/2016-american-college-of-rheumatology-european-league-against-rheumatism-classification-criteria-for-primary-sj%C3%A3-gren-s-syndrome-a-consensus-and-data-driven-methodology-involving-three-international-patient-cohorts
#7
REVIEW
Caroline H Shiboski, Stephen C Shiboski, Raphaèle Seror, Lindsey A Criswell, Marc Labetoulle, Thomas M Lietman, Astrid Rasmussen, Hal Scofield, Claudio Vitali, Simon J Bowman, Xavier Mariette
OBJECTIVES: To develop and validate an international set of classification criteria for primary Sjögren's syndrome (SS) using guidelines from the American College of Rheumatology (ACR) and the European League Against Rheumatism (EULAR). These criteria were developed for use in individuals with signs and/or symptoms suggestive of SS. METHODS: We assigned preliminary importance weights to a consensus list of candidate criteria items, using multi-criteria decision analysis...
October 26, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27785888/2016-american-college-of-rheumatology-european-league-against-rheumatism-classification-criteria-for-primary-sj%C3%A3-gren-s-syndrome-a-consensus-and-data-driven-methodology-involving-three-international-patient-cohorts
#8
Caroline H Shiboski, Stephen C Shiboski, Raphaèle Seror, Lindsey A Criswell, Marc Labetoulle, Thomas M Lietman, Astrid Rasmussen, Hal Scofield, Claudio Vitali, Simon J Bowman, Xavier Mariette
OBJECTIVE: To develop and validate an international set of classification criteria for primary Sjögren's syndrome (SS) using guidelines from the American College of Rheumatology (ACR) and the European League Against Rheumatism (EULAR). These criteria were developed for use in individuals with signs and/or symptoms suggestive of SS. METHODS: We assigned preliminary importance weights to a consensus list of candidate criteria items, using multi-criteria decision analysis...
October 26, 2016: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/27682582/incidence-and-risk-factors-of-refeeding-syndrome-in-head-and-neck-cancer-patients-an-observational-study
#9
Stine Ostenfeldt Rasmussen, Marianne Boll Kristensen, Irene Wessel, Jens Rikardt Andersen
This study aimed to determine the incidence rates of refeeding phenomena (defined as a decline in p-phosphate) and refeeding syndrome (RFS; defined as development of clinical symptoms in addition to a decline in p-phosphate) in head and neck cancer patients, and to identify risk factors. Fifty-four head and neck cancer patients referred for surgery were included. Forty-six potential risk factors were registered at the baseline, and p-phosphate was measured at Days 2, 4, and 7. Eleven patients (20%) developed RFS, and twenty-eight (52%) developed refeeding phenomena...
November 2016: Nutrition and Cancer
https://www.readbyqxmd.com/read/27681211/the-metabolic-syndrome-among-danish-seafarers-a-follow-up-study
#10
Jørgen Riis Jepsen, Hanna B Rasmussen
BACKGROUND: The metabolic syndrome (MS) represents a cluster of risk factors related to insulin resistance. Metabolic syndrome is a strong risk factor for chronic metabolic and cardiovascular diseases and is related to nutritional factors, sleep patterns, work-related stress, fatigue, and physical activity - all of which are critical issues at sea. We have previously demonstrated a MS prevalence of 24.2% in Danish seafarers. This study aimed to follow the trend of MS after 2 years' intervention...
2016: International Maritime Health
https://www.readbyqxmd.com/read/27618602/long-term-effect-of-rituximab-in-a-case-with-late-onset-rasmussen%C3%A2-s-encephalitis-with-anti-ganglioside-iggq1b-and-anti-gad-antibodies-positivity-case-report
#11
Gabriela Timarova, Iveta Lisa, Peter Kukumberg
Rasmussen's encephalitis is a rare autoimmune encephalitis usually involving one brain hemisphere, presenting with refractory epileptic seizures, and neurological and cognitive decline. Only 10% of cases start later in adolescence/adulthood. The only effective treatment for refractory seizures in childhood is hemispherectomy. For late-onset cases with mild neurological deficit the hemispherectomy is usually postponed because of its severe consequences. Immunotherapy shows some temporal effect for seizure control and slowing the brain atrophy, mainly in late onset Rasmussen's encephalitis...
July 16, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/27609979/prevalence-and-patient-characteristics-of-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-a-nationwide-registry-based-study
#12
Morten Herlin, Anne-Mette Bay Bjørn, Maria Rasmussen, Birgitta Trolle, Michael Bjørn Petersen
STUDY QUESTION: What is the prevalence of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome? SUMMARY ANSWER: The prevalence of MRKH syndrome in Denmark is 1 in 4982 (95% confidence interval (CI): 4216-5887) live female births. WHAT IS KNOWN ALREADY: The prevalence of MRKH syndrome has been estimated to be around 1 in 4000-5000 females. However, population-based prevalence studies of MRKH syndrome are sparse. Moreover, population-based data on patient characteristics are lacking...
October 2016: Human Reproduction
https://www.readbyqxmd.com/read/27609620/automated-mri-volumetric-analysis-in-patients-with-rasmussen-syndrome
#13
Z I Wang, B Krishnan, D W Shattuck, R M Leahy, A N V Moosa, E Wyllie, R C Burgess, N B Al-Sharif, A A Joshi, A V Alexopoulos, J C Mosher, U Udayasankar, S E Jones
BACKGROUND AND PURPOSE: Rasmussen syndrome, also known as Rasmussen encephalitis, is typically associated with volume loss of the affected hemisphere of the brain. Our aim was to apply automated quantitative volumetric MR imaging analyses to patients diagnosed with Rasmussen encephalitis, to determine the predictive value of lobar volumetric measures and to assess regional atrophy differences as well as monitor disease progression by using these measures. MATERIALS AND METHODS: Nineteen patients (42 scans) with diagnosed Rasmussen encephalitis were studied...
September 8, 2016: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/27568649/expansion-of-the-variable-expression-of-muenke-syndrome-hydrocephalus-without-craniosynostosis
#14
Ariadna González-Del Angel, Bernardette Estandía-Ortega, Miguel Angel Alcántara-Ortigoza, Víctor Martínez-Cruz, Diana Judith Gutiérrez-Tinajero, Astrid Rasmussen, Claudia Sofía Gómez-González
Muenke syndrome (MS) is an autosomal dominant coronal craniosynostosis syndrome with variable extracranial anomalies. We studied 56 unrelated patients with non-syndromic uni- or bicoronal craniosynostosi to identify the frequency and clinical characteristics of MS in a cohort of Mexican childrens. The FGFR3 pathogenic variation p.Pro250Arg responsible for MS was characterized in all probands by PCR-restriction assay; available first-degree relatives (15 parents, 5 siblings) of the confirmed p.Pro250Arg carriers were also tested...
August 29, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27559830/update-interim-guidance-for-the-evaluation-and-management-of-infants-with-possible-congenital-zika-virus-infection-united-states-august-2016
#15
Kate Russell, Sara E Oliver, Lillianne Lewis, Wanda D Barfield, Janet Cragan, Dana Meaney-Delman, J Erin Staples, Marc Fischer, Georgina Peacock, Titilope Oduyebo, Emily E Petersen, Sherif Zaki, Cynthia A Moore, Sonja A Rasmussen
CDC has updated its interim guidance for U.S. health care providers caring for infants born to mothers with possible Zika virus infection during pregnancy (1). Laboratory testing is recommended for 1) infants born to mothers with laboratory evidence of Zika virus infection during pregnancy and 2) infants who have abnormal clinical or neuroimaging findings suggestive of congenital Zika syndrome and a maternal epidemiologic link suggesting possible transmission, regardless of maternal Zika virus test results...
2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27512974/elevated-estimated-arterial-age-is-associated-with-metabolic-syndrome-and-low-grade-inflammation
#16
Sara V Greve, Marie K Blicher, Ruan Kruger, Thomas Sehestedt, Eva Gram-Kampmann, Susanne Rasmussen, Julie K K Vishram, Pierre Boutouyrie, Stephane Laurent, Michael H Olsen
BACKGROUND: Arterial age can be estimated from equations relating arterial stiffness to age and blood pressure in large cohorts. We investigated whether estimated arterial age (eAA) was elevated in patients with the metabolic syndrome and/or known cardiovascular disease (CVD), which factors were associated with eAA and whether eAA added prognostic information. METHODS: In 1993, 2366 study participants, 41, 51, 61, and 71 years old, had traditional cardiovascular risk factors and carotid-femoral pulse wave velocity (cfPWV) measured...
August 10, 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27491326/complex-regional-pain-syndrome
#17
Maria GalveVilla, Bjarne Rittig-Rasmussen, Lene Moeller Schear Mikkelsen, Anne Groendahl Poulsen
INTRODUCTION: Complex regional pain syndrome (CRPS) is a chronic pain condition that can occur after a minor trauma or surgery. It is a multifactorial condition with a complex cause and even more complex pathophysiology. There are disturbances and changes in the sympathetic, somatosensory and motor nervous system, resulting in severe pain and disability. Patients with CRPS can have their quality of life and functional ability greatly affected and they need appropriate and interdisciplinary interventions...
July 18, 2016: Manual Therapy
https://www.readbyqxmd.com/read/27475280/ketogenic-diet-treatment-for-pediatric-super-refractory-status-epilepticus
#18
Brian Appavu, Lisa Vanatta, John Condie, John F Kerrigan, Randa Jarrar
PURPOSE: We aimed to study whether ketogenic diet (KD) therapy leads to resolution of super-refractory status epilepticus in pediatric patients without significant harm. METHOD: A retrospective review was performed at Phoenix Children's Hospital on patients with super-refractory status epilepticus undergoing ketogenic diet therapy from 2011 to 2015. RESULTS: Ten children with super-refractory status epilepticus, ages 2-16 years, were identified...
October 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27467371/autoimmune-hepatitis-and-seronegative-hepatitis-associated-with-myelodysplastic-syndrome-in-children
#19
Line K Rasmussen, Elisabeth V Stenbøg, Gitte B Kerndrup, Henrik Hasle
An association between hepatitis and aplastic anemia (AA) is known as hepatitis-associated AA, and is characterized by an acute attack of hepatitis followed by the development of AA. We report 2 clinical cases of acute seronegative hepatitis in which pancytopenia with mild dysplasia developed after 3 months; however, neither of our cases fulfilled the histological criteria of AA, but rather myelodysplastic syndrome. This novel association bears considerable resemblance to hepatitis-associated AA, and raises the question of whether hepatitis-associated dysmyelopoiesis should be included in the spectrum of hypocellular myelodysplastic syndrome...
November 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27409573/17q12-deletion-and-duplication-syndrome-in-denmark-a-clinical-cohort-of-38-patients-and-review-of-the-literature
#20
Maria Rasmussen, Else Marie Vestergaard, Jesper Graakjaer, Yanko Petkov, Iben Bache, Christina Fagerberg, Maria Kibaek, Dea Svaneby, Olav Bjørn Petersen, Charlotte Brasch-Andersen, Lone Sunde
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). The aberrations encompass the genes, HNF1B, LHX1, and ACACA, among others. We here describe a large national cohort of 12 phenotyped patients with 17q12 deletions and 26 phenotyped patients with 17q12 duplications. The total cohort includes 19 index patients and 19 family members. We also reviewed the literature in order to further improve the basis for the counseling...
July 13, 2016: American Journal of Medical Genetics. Part A
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