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adult onset still's disease

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https://www.readbyqxmd.com/read/29148405/autophagy-inhibition-in-adult-onset-still-s-disease-still-more-space-for-hydroxychloroquine
#1
Charalampos Papagoras, Akrivi Chrysanthopoulou, Alexandros Mitsios, Athanasios Arampatzioglou, Konstantinos Ritis, Panagiotis Skendros
No abstract text is available yet for this article.
October 23, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29147588/diagnostic-challenge-a-report-of-two-adult-onset-still-s-disease-cases
#2
Sakunee Niranvichaiya, Daranporn Triwongwaranat
This study reports two adult-onset Still's disease (AOSD) cases that met both Yamaguchi's and Fautrel's criteria and that presented with notable clinical manifestations. One case presented with atypical dermographism-like rash with an extremely high ferritin level. The other case presented with typical salmon-pink maculopapular rash but had atypical positive rheumatoid factor. This suggests that although negative rheumatoid factor is one of the criteria used for the diagnosis of AOSD, a positive rheumatoid factor result does not exclude AOSD...
2017: Case Reports in Dermatological Medicine
https://www.readbyqxmd.com/read/29132389/advances-challenges-and-future-directions-for-stem-cell-therapy-in-amyotrophic-lateral-sclerosis
#3
REVIEW
Yuri Ciervo, Ke Ning, Xu Jun, Pamela J Shaw, Richard J Mead
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative condition where loss of motor neurons within the brain and spinal cord leads to muscle atrophy, weakness, paralysis and ultimately death within 3-5 years from onset of symptoms. The specific molecular mechanisms underlying the disease pathology are not fully understood and neuroprotective treatment options are minimally effective. In recent years, stem cell transplantation as a new therapy for ALS patients has been extensively investigated, becoming an intense and debated field of study...
November 13, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29128256/megf10-related-myopathies-a-new-case-with-adult-onset-disease-with-prominent-respiratory-failure-and-review-of-reported-phenotypes
#4
Elizabeth Harris, Chiara Marini-Bettolo, Ana Töpf, Rita Barresi, Tuomo Polvikovski, Geraldine Bailey, Richard Charlton, James Tellez, Daniel MacArthur, Michela Guglieri, Hanns Lochmüller, Kate Bushby, Volker Straub
Recessive mutations in MEGF10 (multiple epidermal growth factor 10) have been reported in a severe early onset disorder named Early Myopathy, Areflexia, Respiratory Distress and Dysphagia, and a milder form with cores in the muscle biopsy; and a possible genotype-phenotype correlation determining the clinical presentation has been suggested. We undertook exome sequencing in a 66 year old male with a 20 year history of progressive proximal and distal weakness of upper and lower limbs, facial weakness and dysphagia, who developed respiratory failure requiring ventilation while still ambulant in his 50s...
October 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29124997/perinatal-exposure-to-environmental-tobacco-smoke-is-associated-with-changes-in-dna-methylation-that-precede-the-adult-onset-of-lung-disease-in-a-mouse-model
#5
Elizabeth Cole, Traci A Brown, Kent E Pinkerton, Britten Postma, Keegan Malany, Mihi Yang, Yang Jee Kim, Raymond F Hamilton, Andrij Holian, Yoon Hee Cho
Prenatal and early-life environmental tobacco smoke (ETS) exposure can induce epigenetic alterations associated with inflammation and respiratory disease. The objective of this study was to address the long-term epigenetic consequences of perinatal ETS exposure on latent respiratory disease risk, which are still largely unknown. C57BL/6 mice were exposed to prenatal and early-life ETS; offspring lung pathology, global DNA, and gene-specific methylation were measured at two adult ages. Significant alterations in global DNA methylation and promoter methylation of IFN-γ and Thy-1 were found in ETS-exposed offspring at 10-12 and 20 weeks of age...
August 2017: Inhalation Toxicology
https://www.readbyqxmd.com/read/29114246/variation-of-carbohydrate-active-enzyme-patterns-in-the-gut-microbiota-of-italian-healthy-subjects-and-type-2-diabetes-patients
#6
Matteo Soverini, Silvia Turroni, Elena Biagi, Sara Quercia, Patrizia Brigidi, Marco Candela, Simone Rampelli
The human gut microbiota (GM) has been associated, to date, with various complex functions, essentials for the host health. Among these, it is certainly worth noting the degradation of the so-called microbiota-accessible carbohydrates (MACs), which the GM breaks down through specific enzymes, referred to as carbohydrate-active enzymes (CAZymes). This degradation constitutes the first step in the production of short-chain fatty acids (SCFAs), key microbial small molecules having multiple health-promoting effects for the host organism...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29109235/glial-draper-rescues-a%C3%AE-toxicity-in-a-drosophila-model-of-alzheimer-s-disease
#7
Arpita Ray, Sean D Speese, Mary A Logan
Pathological hallmarks of Alzheimer's disease (AD) include amyloid-beta (Aβ) plaques, neurofibrillary tangles, and reactive gliosis. Glial cells offer protection against AD by engulfing extracellular Aβ peptides, but the repertoire of molecules required for glial recognition and destruction of Aβ are still unclear. Here, we show that the highly conserved glial engulfment receptor Draper/MEGF10 provides neuroprotection in an AD model of Drosophila (both sexes). Neuronal expression of human Aβ42(arc) in adult flies results in robust Aβ accumulation, neurodegeneration, locomotor dysfunction, and reduced lifespan...
November 6, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29098318/-wilson-s-disease-what-has-been-confirmed-in-diagnostic-and-therapy
#8
REVIEW
E-D Pfister
Wilson's disease (WD) is a rare autosomal recessive disorder characterized by abnormal copper accumulation. Presenting a broad variety of phenotypes and, thus, being a chameleon within the group of metabolic diseases, the manifold clinical symptoms of WD can include hepatologic, neurologic, and psychiatric manifestations. Early onset presentations in infancy and late-onset manifestations in adults older than 70 years of age have been described. If the typical laboratory blood test values are missing, the diagnosis of WD may be difficult and often involves a combination of different parameters...
November 2, 2017: Der Internist
https://www.readbyqxmd.com/read/29096430/utility-and-drawbacks-of-18-f-fluorodeoxyglucose-positron-emission-tomography-in-the-evaluation-of-adult-onset-still-s-disease
#9
Dae Hyun Yoo
No abstract text is available yet for this article.
November 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/29094181/cardiovascular-disease-in-patients-with-autoinflammatory-syndromes
#10
REVIEW
Rainer Hintenberger, Agnes Falkinger, Kathrin Danninger, Herwig Pieringer
Autoinflammatory syndromes (AIS) are characterized by recurring events of inflammation, leading to a variety of organ manifestations and fever attacks. A subgroup of AIS is commonly referred to as hereditary periodic fever syndromes (HPFS). There is substantial evidence that autoimmune diseases such as rheumatoid arthritis and systemic lupus erythematosus are strongly associated with cardiovascular morbidity and mortality. The link between AIS and cardiovascular disease is not that clear, even if the concept of continuous inflammation as a risk factor for cardiovascular disease is widely accepted...
November 1, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29078267/gut-dysbiosis-breaks-immunological-tolerance-toward-the-central-nervous-system-during-young-adulthood
#11
Sudhir K Yadav, Sridhar Boppana, Naoko Ito, John E Mindur, Martin T Mathay, Ankoor Patel, Suhayl Dhib-Jalbut, Kouichi Ito
Multiple sclerosis (MS) is an autoimmune disease targeting the central nervous system (CNS) mainly in young adults, and a breakage of immune tolerance to CNS self-antigens has been suggested to initiate CNS autoimmunity. Age and microbial infection are well-known factors involved in the development of autoimmune diseases, including MS. Recent studies have suggested that alterations in the gut microbiota, referred to as dysbiosis, are associated with MS. However, it is still largely unknown how gut dysbiosis affects the onset and progression of CNS autoimmunity...
October 31, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29076903/imaging-characteristics-of-chemotherapy-related-adult-onset-still-disease
#12
Yang Lu, Beth A Chasen, Homer A Macapinlac
A 60-year-old man with lymphoma completed chemotherapy on October 21, 2016, with complete remission. He then received rituximab maintenance therapy. Since March 2017, he has had progressive fatigue, myalgias, rash, weight loss, diarrhea, and recurrent low-grade fever. Subsequent bone marrow biopsy and FDG PET/CT demonstrated no active lymphoma. An In-white blood cell scan showed abnormal tracer uptake on 20-hour postinjection, but not on 3-hour postinjection images, including innumerable skeleton muscle foci, multiple cutaneous foci, and persistent diffuse increased uptake in the lungs...
December 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/29075297/stem-and-progenitor-cells-in-human-cardiopulmonary-development-and-regeneration
#13
REVIEW
Silvana Bardelli, Marco Moccetti
Already during embryonic development, the heart and the lung are thoroughly connected organs. Their interdependence allows our survival in the terrestrial environment by coupling cardiac output and gas exchange. The knowledge on developmental processes involving stem and progenitor cells is crucial to understand the onset of human cardiopulmonary diseases. The precise identification of various adult endogenous progenitors is still incomplete. Thus, caution should be exercised on newly available stem cell-based treatments until specific mechanisms of action are disclosed...
2017: Stem Cells International
https://www.readbyqxmd.com/read/29046322/pumilio2-deficient-mice-show-a-predisposition-for-epilepsy
#14
Philipp Follwaczny, Rico Schieweck, Therese Riedemann, Antonia Demleitner, Tobias Straub, Anna H Klemm, Martin Bilban, Bernd Sutor, Bastian Popper, Michael A Kiebler
Epilepsy is a neurological disease that is caused by abnormal hypersynchronous activities of neuronal ensembles leading to recurrent and spontaneous seizures in human patients. Enhanced neuronal excitability and a high level of synchrony between neurons seem to trigger these spontaneous seizures. The molecular mechanisms, however, regarding the development of neuronal hyperexcitability and maintenance of epilepsy are still poorly understood. Here, we show that pumilio RNA-binding family member 2 (Pumilio2; Pum2) plays a role in the regulation of excitability in hippocampal neurons of weaned and 5-month-old male mice...
November 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29044212/a-pilot-study-on-tocilizumab-for-treating-refractory-adult-onset-still-s-disease
#15
Ting Li, Liyang Gu, Xiaodong Wang, Li Guo, Hui Shi, Chengde Yang, Sheng Chen
To investigate the efficacy and safety of Tocilizumab (TCZ) in patients with refractory adult-onset Still's disease (AOSD). We enrolled 8 female patients from October 2013 to July 2014. All patients fulfilled Japan's Yamaguch AOSD classification and recognized as refractory AOSD. All Patients received TCZ treatment 4-8 mg/kg every 4 weeks. Evaluation of efficacy was conducted after 3 months and 6 months, including clinical manifestations of AOSD patients, improvement of inflammatory markers as well as glucocorticoids dosage adjustments...
October 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29043244/a-case-of-adult-onset-still-s-disease-accompanied-by-pseudo-gray-platelet-syndrome
#16
Sumiyo Miyakawa, Masashi Ohe, Haruki Shida, Tetsuya Horita, Ken Furuya, Satoshi Hashino
No abstract text is available yet for this article.
September 2017: Blood Research
https://www.readbyqxmd.com/read/29023182/potential-clinical-utility-of-multiple-system-atrophy-biomarkers
#17
Kurt A Jellinger
Multiple system atrophy (MSA), an adult-onset, fatal disorder of uncertain etiology, characterized by parkinsonism, cerebellar, autonomic and motor dysfunctions, is an α-synucleinopathy with glioneuronal degeneration involving multiple parts of the nervous system. The clinical variants correlate with the morphological phenotypes of striatonigral degeneration (MSA-P), olivoponto-cerebellar atrophy (MSA-C), and mixed type MSA. Neuropathological hallmark is the deposition of aberrant α-synuclein in glia and neurons forming cytoplasmic inclusions that cause cell dysfunction/demise...
October 23, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29020327/cognitive-changes-in-prevalent-and-incident-cardiovascular-disease-a-12-year-follow-up-in-the-maastricht-aging-study-maas
#18
Syenna H J Schievink, Martin P J van Boxtel, Kay Deckers, Robert J van Oostenbrugge, Frans R J Verhey, Sebastian Köhler
Aims: Cardiovascular disease (CVD) has been suggested to accelerate cognitive decline and to be a risk factor for dementia, but still little is known about the cognitive course after a first cardiovascular event. Therefore, the present study aims to investigate the cognitive trajectories in both prevalent and incident CVD over a 12-year time period in the general population. Methods and results: Cognitively healthy participants (age 24-82 years, n = 1823) of a prospective cohort study were serially assessed at baseline, 6 and 12 years...
July 22, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28984582/multiple-system-atrophy-an%C3%A2-oligodendroglioneural-synucleinopathy
#19
Kurt A Jellinger
Multiple system atrophy (MSA) is an orphan, fatal, adult-onset neurodegenerative disorder of uncertain etiology that is clinically characterized by various combinations of parkinsonism, cerebellar, autonomic, and motor dysfunction. MSA is an α-synucleinopathy with specific glioneuronal degeneration involving striatonigral, olivopontocerebellar, and autonomic nervous systems but also other parts of the central and peripheral nervous systems. The major clinical variants correlate with the morphologic phenotypes of striatonigral degeneration (MSA-P) and olivopontocerebellar atrophy (MSA-C)...
September 26, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28928271/the-value-of-18-f-fdg-pet-ct-in-identifying-the-cause-of-fever-of-unknown-origin-fuo-and-inflammation-of-unknown-origin-iuo-data-from-a-prospective-study
#20
Verena Schönau, Kristin Vogel, Matthias Englbrecht, Jochen Wacker, Daniela Schmidt, Bernhard Manger, Torsten Kuwert, Georg Schett
BACKGROUND: Fever of unknown origin (FUO) and inflammation of unknown origin (IUO) are diagnostically challenging conditions. Diagnosis of underlying disease may be improved by (18)F-fluorodesoxyglucose positron emission tomography ((18)F-FDG-PET). METHODS: Prospective study to test diagnostic utility of (18)F-FDG-PET/CT in a large cohort of patients with FUO or IUO and to define parameters that increase the likelihood of diagnostic (18)F-FDG-PET/CT. Patients with FUO or IUO received (18)F-FDG-PET/CT scanning in addition to standard diagnostic work-up...
September 19, 2017: Annals of the Rheumatic Diseases
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