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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
#1
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 22, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28623992/near-infrared-fluorescence-lymphatic-imaging-of-klippel-tr%C3%A3-naunay-syndrome
#2
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
#3
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...
June 6, 2017: Lancet Psychiatry
https://www.readbyqxmd.com/read/28589207/prediction-and-in-vitro-verification-of-potential-ctl-epitopes-conserved-among-prrsv-2-strains
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/28521729/self-rated-health-and-functional-capacity-in-individuals-reporting-overlapping-symptoms-of-gastroesophageal-reflux-disease-functional-dyspepsia-and-irritable-bowel-syndrome-a-population-based-study
#8
Dorte Ejg Jarbøl, Sanne Rasmussen, Kirubakaran Balasubramaniam, Sandra Elnegaard, Peter Fentz Haastrup
BACKGROUND: Gastroesophageal reflux disease (GERD), functional dyspepsia (FD) and irritable bowel syndrome (IBS) are common functional gastrointestinal conditions with a significant impact on daily life. The objectives were to analyse general self-rated health and self-reported functional capacity in adults meeting the criteria for GERD, FD and IBS, respectively, and in individuals who meet the criteria for more than one of the conditions. METHODS: A nationwide study of 100,000 individuals aged 20 years and above, randomly selected in the general Danish population...
May 18, 2017: BMC Gastroenterology
https://www.readbyqxmd.com/read/28514279/impact-of-alemtuzumab-on-hiv-persistence-in-an-hiv-infected-individual-on-antiretroviral-therapy-with-sezary-syndrome
#9
Thomas Aagaard Rasmussen, James McMahon, J Judy Chang, Jori Symons, Michael Roche, Ashanti Dantanarayana, Afam Okoye, Bonnie Hiener, Sarah Palmer, Wen Shi Lee, Stephen Kent, Carrie Van Der Weyden, H Miles Prince, Paul U Cameron, Sharon R Lewin
OBJECTIVE: To study the effects of alemtuzumab on HIV persistence in an HIV-infected individual on antiretroviral therapy (ART) with Sezary syndrome, a rare malignancy of CD4+ T-cells DESIGN:: Case report. METHODS: Blood was collected 30 and 18 months prior to presentation with Sezary syndrome, at the time of presentation and during alemtuzumab. T-cell subsets in malignant (CD7-CD26-TCR-VBeta2+) and non-malignant cells were quantified by flow cytometry. HIV-DNA in total CD4+ T-cells, in sorted malignant and non-malignant CD4+ T-cells was quantified by PCR and clonal expansion of HIV-DNA assessed by full-length next-generation sequencing...
May 16, 2017: AIDS
https://www.readbyqxmd.com/read/28501338/risk-factors-for-metabolic-syndrome-after-liver-transplantation-a-systematic-review-and-meta-analysis
#10
REVIEW
Line Buch Thoefner, Andreas Arendtsen Rostved, Hans-Christian Pommergaard, Allan Rasmussen
INTRODUCTION: Metabolic syndrome is associated with increased risk of cardiovascular events, which contributes to the elevated mortality rate among liver transplant recipients. The objective of this systematic review and meta-analysis was to assess the prevalence and risk factors for metabolic syndrome after liver transplantation. METHODS: The databases Medline and Scopus were searched for observational studies evaluating prevalence and risk factors for metabolic syndrome after liver transplantation...
April 23, 2017: Transplantation Reviews
https://www.readbyqxmd.com/read/28446388/medial-shoe-ground-pressure-and-specific-running-injuries-a-1-year-prospective-cohort-study
#11
René B K Brund, Sten Rasmussen, Rasmus O Nielsen, Uwe G Kersting, Uffe Laessoe, Michael Voigt
OBJECTIVES: Achilles tendinitis, plantar fasciopathy and medial tibial stress syndrome injuries (APM-injuries) account for approximately 25% of the total number of running injuries amongst recreational runners. Reports on the association between static foot pronation and APM-injuries are contradictory. Possibly, dynamic measures of pronation may display a stronger relationship with the risk of APM-injuries. Therefore, the purpose of the present study was to investigate if running distance until the first APM-injury was dependent on the foot balance during stance phase in recreational male runners...
April 15, 2017: Journal of Science and Medicine in Sport
https://www.readbyqxmd.com/read/28438782/incidence-and-prevalence-of-multiple-endocrine-neoplasia-2b-in-denmark-a-nationwide-study
#12
Jes Sloth Mathiesen, Jens Peter Kroustrup, Peter Vestergaard, Mette Madsen, Kirstine Stochholm, Per Løgstrup Poulsen, Åse Krogh Rasmussen, Ulla Feldt-Rasmussen, Sten Schytte, Henrik Baymler Pedersen, Christoffer Holst Hahn, Jens Bentzen, Mette Gaustadnes, Torben Falck Ørntoft, Thomas van Overeem Hansen, Finn Cilius Nielsen, Kim Brixen, Anja Lisbeth Frederiksen, Christian Godballe
Extract: Multiple endocrine neoplasia 2B (MEN2B) is an autosomal dominant inherited cancer syndrome associating medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), ganglioneuromatosis of the aerodigestive tract and facial, ophthalmologic and skeletal abnormalities. MEN2B is caused by the M918T and A883F mutation of the REarranged during Transfection (RET) proto-oncogene in approximately 95% and <5% of cases, respectively. Only very few other mutations have been reported to cause MEN2B. In approximately 75% of MEN2B patients, mutations occur as de novo (Wells, et al...
April 24, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28422960/predicting-the-impact-of-lynch-syndrome-causing-missense-mutations-from-structural-calculations
#13
Sofie V Nielsen, Amelie Stein, Alexander B Dinitzen, Elena Papaleo, Michael H Tatham, Esben G Poulsen, Maher M Kassem, Lene J Rasmussen, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, and often do not provide direct mechanistic insight. Here we demonstrate, for the first time, that saturation mutagenesis, biophysical modeling and co-variation analysis, performed in silico, can predict the abundance, metabolic stability, and function of proteins inside living cells...
April 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28395385/genetic-phenotypic-and-interferon-biomarker-status-in-adar1-related-neurological-disease
#14
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...
April 10, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28303446/expression-of-human-cytomegalovirus-components-in-the-brain-tissues-of-patients-with-rasmussen-s-encephalitis
#15
Yao Zhang, Yisong Wang, Sichang Chen, Shuai Chen, Yuguang Guan, Changqing Liu, Tianfu Li, Guoming Luan, Jing An
Rasmussen's encephalitis (RE) is a rare and severe progressive epileptic syndrome with unknown etiology. Infection by viruses, including human cytomegalovirus (HCMV), has been speculated to be a potential trigger for RE. However, no viral antigens have been detected in the brains of patients with RE; thus, a possible clinical linkage between viral infections and RE has not been firmly established. In this study, we evaluated the expression of HCMV pp65 antigen in brain sections from 26 patients with RE and 20 non-RE patients by immunohistochemistry and in situ hybridization, and assessed the associations between HCMV infection and clinical parameters...
March 2, 2017: Virologica Sinica
https://www.readbyqxmd.com/read/28256379/outcome-of-childhood-onset-epilepsy-from-adolescence-to-adulthood-transition-issues
#16
REVIEW
R Nabbout, D M Andrade, N Bahi-Buisson, H Cross, I Desquerre, O Dulac, T Granata, E Hirsch, V Navarro, L Ouss, P L Pearl, D Schmidt, E Thiele, P R Camfield, C S Camfield
This is the second of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper addresses the outcome for some particularly challenging childhood-onset epileptic disorders with the goal of recommending the best approach to transition. We have grouped these disorders in five categories with a few examples for each. The first group includes disorders presenting in childhood that may have late- or adult-onset epilepsy (metabolic and mitochondrial disorders)...
April 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28239546/functional-hemispherotomy-in-rasmussen-syndrome-in-the-absence-of-classic-mri-findings
#17
Yasunori Nagahama, Charuta Joshi, Brian Dlouhy, Angela Y Wu, Taylor J Abel, Gary Baumbach, Hiroto Kawasaki
A 7-year-old previously healthy girl presented with a left-sided focal seizure without impaired consciousness and subsequently developed epilepsia partialis continua. Initial MRI was normal, and the subsequent images only showed a focal T2/FLAIR hyperintense area without cortical atrophy. She was diagnosed with Rasmussen syndrome by pathology and promptly treated with functional hemispherotomy. Rasmussen syndrome is a rare progressive neurological disorder, the only definitive cure for which is hemispheric disconnection...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28229827/anti-la-positive-anti-ro-negative-subset-of-primary-sj%C3%A3-gren-s-syndrome-anti-la-is-a-reality-but-is-the-disease
#18
Debashish Danda, Rohan Sharma, Dat Truong, Kristi A Koelsch, Biji T Kurien, Harini Bagavant, Umesh Deshmukh, C Erick Kaufman, David M Lewis, Donald U Stone, Lida Radfar, Astrid Rasmussen, Kathy L Sivils, Robert H Scofield
OBJECTIVES: To characterise the serological and clinical findings in primary Sjögren's syndrome in which anti-La was found without anti-Ro. We hypothesised that a significant portion of these are falsely negative for anti-Ro60. METHODS: Twenty-nine sera from primary Sjögren's syndrome patients were tested for antibodies directed against La and Ro. Anti-La was detected using bovine La treated with or without DNAase and RNAase to identify potential false positivity...
May 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28218556/scandcleft-randomised-trials-of-primary-surgery-for-unilateral-cleft-lip-and-palate-5-speech-outcomes-in-5-year-olds-consonant-proficiency-and-errors
#19
Elisabeth Willadsen, Anette Lohmander, Christina Persson, Inger Lundeborg, Suvi Alaluusua, Ragnhild Aukner, Anja Bau, Maria Boers, Melanie Bowden, Julie Davies, Berit Emborg, Christina Havstam, Christine Hayden, Gunilla Henningsson, Anders Holmefjord, Elina Hölttä, Mia Kisling-Møller, Lillian Kjøll, Maria Lundberg, Eilish McAleer, Jill Nyberg, Marjukka Paaso, Nina Helen Pedersen, Therese Rasmussen, Sigvor Reisæter, Helene Søgaard Andersen, Antje Schöps, Inger-Beate Tørdal, Gunvor Semb
BACKGROUND AND AIM: Normal articulation before school start is a main objective in cleft palate treatment. The aim was to investigate if differences exist in consonant proficiency at age 5 years between children with unilateral cleft lip and palate (UCLP) randomised to different surgical protocols for primary palatal repair. A secondary aim was to estimate burden of care in terms of received additional secondary surgeries and speech therapy. DESIGN: Three parallel group, randomised clinical trials were undertaken as an international multicentre study by 10 cleft teams in five countries: Denmark, Finland, Norway, Sweden, and the UK...
February 2017: Journal of Plastic Surgery and Hand Surgery
https://www.readbyqxmd.com/read/28218551/scandcleft-randomised-trials-of-primary-surgery-for-unilateral-cleft-lip-and-palate-4-speech-outcomes-in-5-year-olds-velopharyngeal-competency-and-hypernasality
#20
Anette Lohmander, Christina Persson, Elisabeth Willadsen, Inger Lundeborg, Suvi Alaluusua, Ragnhild Aukner, Anja Bau, Maria Boers, Melanie Bowden, Julie Davies, Berit Emborg, Christina Havstam, Christine Hayden, Gunilla Henningsson, Anders Holmefjord, Elina Hölttä, Mia Kisling-Møller, Lillian Kjøll, Maria Lundberg, Eilish McAleer, Jill Nyberg, Marjukka Paaso, Nina Helen Pedersen, Therese Rasmussen, Sigvor Reisæter, Helene Søgaard Andersen, Antje Schöps, Inger-Beate Tørdal, Gunvor Semb
BACKGROUND AND AIM: Adequate velopharyngeal function and speech are main goals in the treatment of cleft palate. The objective was to investigate if there were differences in velopharyngeal competency (VPC) and hypernasality at age 5 years in children with unilateral cleft lip and palate (UCLP) operated on with different surgical methods for primary palatal repair. A secondary aim was to estimate burden of care in terms of received additional secondary surgeries and speech therapy. DESIGN: Three parallel group, randomised clinical trials were undertaken as an international multicentre study by 10 cleft teams in five countries: Denmark, Finland, Sweden, Norway, and the UK...
February 2017: Journal of Plastic Surgery and Hand Surgery
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