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rasmussen syndrome

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https://www.readbyqxmd.com/read/28446388/medial-shoe-ground-pressure-and-specific-running-injuries-a-1-year-prospective-cohort-study
#1
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
#2
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
#3
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 19, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28395385/genetic-phenotypic-and-interferon-biomarker-status-in-adar1-related-neurological-disease
#4
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
#5
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
#6
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)...
February 27, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28239546/functional-hemispherotomy-in-rasmussen-syndrome-in-the-absence-of-classic-mri-findings
#7
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
#8
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...
February 20, 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
#9
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
#10
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
https://www.readbyqxmd.com/read/28166540/effect-of-tobacco-smoking-on-the-clinical-histopathological-and-serological-manifestations-of-sj%C3%A3-gren-s-syndrome
#11
Donald U Stone, Dustin Fife, Michael Brown, Keith E Earley, Lida Radfar, C Erick Kaufman, David M Lewis, Nelson L Rhodus, Barbara M Segal, Daniel J Wallace, Michael H Weisman, Swamy Venuturupalli, Michael T Brennan, Christopher J Lessard, Courtney G Montgomery, R Hal Scofield, Kathy L Sivils, Astrid Rasmussen
OBJECTIVES: To assess the association of smoking habits with the clinical, serological, and histopathological manifestations of Sjögren's syndrome (SS) and non-Sjögren's sicca (non-SS sicca). METHODS: Cross-sectional case-control study of 1288 patients with sicca symptoms (587 SS and 701 non-SS sicca) evaluated in a multi-disciplinary research clinic. Smoking patterns were obtained from questionnaire data and disease-related clinical and laboratory data were compared between current, past, ever, and never smokers...
2017: PloS One
https://www.readbyqxmd.com/read/28135245/a-missense-variant-in-ncf1-is-associated-with-susceptibility-to-multiple-autoimmune-diseases
#12
Jian Zhao, Jianyang Ma, Yun Deng, Jennifer A Kelly, Kwangwoo Kim, So-Young Bang, Hye-Soon Lee, Quan-Zhen Li, Edward K Wakeland, Rong Qiu, Mengru Liu, Jianping Guo, Zhanguo Li, Wenfeng Tan, Astrid Rasmussen, Christopher J Lessard, Kathy L Sivils, Bevra H Hahn, Jennifer M Grossman, Diane L Kamen, Gary S Gilkeson, Sang-Cheol Bae, Patrick M Gaffney, Nan Shen, Betty P Tsao
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a strong genetic component characterized by autoantibody production and a type I interferon signature. Here we report a missense variant (g.74779296G>A; p.Arg90His) in NCF1, encoding the p47(phox) subunit of the phagocyte NADPH oxidase (NOX2), as the putative underlying causal variant that drives a strong SLE-associated signal detected by the Immunochip in the GTF2IRD1-GTF2I region at 7q11.23 with a complex genomic structure. We show that the p...
March 2017: Nature Genetics
https://www.readbyqxmd.com/read/28078203/catatonia-our-current-understanding-of-its-diagnosis-treatment-and-pathophysiology
#13
REVIEW
Sean A Rasmussen, Michael F Mazurek, Patricia I Rosebush
Catatonia is a psychomotor syndrome that has been reported to occur in more than 10% of patients with acute psychiatric illnesses. Two subtypes of the syndrome have been identified. Catatonia of the retarded type is characterized by immobility, mutism, staring, rigidity, and a host of other clinical signs. Excited catatonia is a less common presentation in which patients develop prolonged periods of psychomotor agitation. Once thought to be a subtype of schizophrenia, catatonia is now recognized to occur with a broad spectrum of medical and psychiatric illnesses, particularly affective disorders...
December 22, 2016: World Journal of Psychiatry
https://www.readbyqxmd.com/read/28044449/efficacy-of-a-randomized-trial-examining-commercial-weight-loss-programs-and-exercise-on-metabolic-syndrome-in-overweight-and-obese-women
#14
RANDOMIZED CONTROLLED TRIAL
Claire Baetge, Conrad P Earnest, Brittanie Lockard, Adriana M Coletta, Elfego Galvan, Christopher Rasmussen, Kyle Levers, Sunday Y Simbo, Y Peter Jung, Majid Koozehchian, Jonathan Oliver, Ryan Dalton, Brittany Sanchez, Michael J Byrd, Deepesh Khanna, Andrew Jagim, Julie Kresta, Mike Greenwood, Richard B Kreider
While commercial dietary weight-loss programs typically advise exercise, few provide actual programing. The goal of this study was to compare the Curves Complete 90-day Challenge (CC, n = 29), which incorporates exercising and diet, to programs advocating exercise (Weight Watchers Points Plus (WW, n = 29), Jenny Craig At Home (JC, n = 27), and Nutrisystem Advance Select (NS, n = 28)) or control (n = 20) on metabolic syndrome (MetS) and weight loss. We randomized 133 sedentary, overweight women (age, 47 ± 11 years; body mass, 86 ± 14 kg; body mass index, 35 ± 6 kg/m(2)) into respective treatment groups for 12 weeks...
February 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28043612/post-tuberculosis-pulmonary-function-and-noninfectious-pulmonary-disorders
#15
Muhammad Irfan
Tuberculosis (TB) is among the top infectious causes of morbidity and mortality worldwide and is associated with frequent pulmonary damage despite microbiological cure. Patients with treated TB may remain lifelong sufferers of disabling structural and functional sequelae of the disease, which subsequently impair quality of life. Long-term follow-up studies have revealed that many patients with treated pulmonary TB show signs of permanent impairment of their lung function. Impairment is variable in pattern and severity, ranging from none to severe, and shows restrictive, obstructive, or mixed patterns...
December 2016: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/27989972/frontal-lobe-decortication-frontal-lobectomy-with-ventricular-preservation-in-epilepsy-part-1-anatomic-landmarks-and-surgical-technique
#16
Hung Tzu Wen, Leila Maria Da Róz, Albert L Rhoton, Luiz Henrique Martins Castro, Manoel Jacobsen Teixeira
BACKGROUND: An extensive frontal resection is a frequently performed neurosurgical procedure, especially for treating brain tumor and refractory epilepsy. However, there is a paucity of reports available regarding its surgical anatomy and technique. OBJECTIVES: We sought to present the anatomic landmarks and surgical technique of the frontal lobe decortication (FLD) in epilepsy. The goals were to maximize the gray matter removal, spare primary and supplementary motor areas, and preserve the frontal horn...
February 2017: World Neurosurgery
https://www.readbyqxmd.com/read/27976548/percutaneous-balloon-valvuloplasty-in-carcinoid-pulmonary-valve-stenosis
#17
Vibeke Guldbrand Rasmussen, Helle Lynge Kanstrup, Jens Erik Nielsen-Kudsk
More than half of patients with carcinoid syndrome develop carcinoid valve disease. Both the tricuspid and pulmonary valve are often involved. Symptoms of carcinoid syndrome with flushing, diarrhea, and bronchospasm often precedes cardiac symptoms. We report a case of carcinoid initially presenting with rapid development of right heart failure due to severe pulmonary valve stenosis. In untreated carcinoid, there is a risk of carcinoid crisis with anesthesia and surgery. In local anesthesia, we performed a sub-acute balloon pulmonary valvuloplasty...
December 2016: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/27913085/anti-n-methyl-d-aspartate-receptor-encephalitis-and-rasmussen-like-syndrome-an-association
#18
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...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27900773/systematic-review-of-immunoglobulin-use-in-paediatric-neurological-and-neurodevelopmental-disorders
#19
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...
February 2017: 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
#20
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
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