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Total 174 results found since Jan 2013.

Anti-TIF1- γ autoantibodies–positive dermatomyositis: where is the malignancy?
A77-year-old man presented with progressive proximal and distal muscle weakness of upper and lower limbs, neck flexor weakness, dysphagia, dysphonia and associated cutaneous manifestations (Fig. 1) [1]. Laboratory investigation revealed increased creatine kinase levels (630 U/l, upper normal value 174 U/l), and electrophysiological evaluation showed signs of irritative myopathy (small amplitude, brief, polyphasic motor units, fibrillations and positive sharp waves). Deltoid muscle biopsy revealed typical DM perifascicular atrophy (Fig. 1). Myositis-specific antibody analysis showed high titres (75, strongly positive 51 –...
Source: Rheumatology - August 30, 2017 Category: Rheumatology Source Type: research

Screening for late ‐onset Pompe disease in western Denmark
ConclusionNone of the screened patients had a reduced activity of the enzyme alpha‐glucosidase. Although the cohort studied was small, our findings do not suggest that LOPD is underdiagnosed in patients with unspecified myopathy in western Denmark.
Source: Acta Neurologica Scandinavica - August 22, 2017 Category: Neurology Authors: J. S. Hansen, E. G. Pedersen, D. Gaist, F. W. Bach, O. J. Vilholm, B. Sandal, L. Weitemeyer, K. Nielsen, F. E. Schlesinger, N. Preisler, J. Vissing, H. Andersen Tags: ORIGINAL ARTICLE Source Type: research

Mitochondrial Point Mutation m.3243A > G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case ‐Control Study
ABSTRACT Mitochondrial dysfunction is associated with several clinical manifestations including diabetes mellitus (DM), neurological disorders, renal and hepatic diseases, and myopathy. Although mitochondrial dysfunction is associated with increased bone resorption and decreased bone formation in mouse models, effects of alterations in mitochondrial function on bone remodeling and mass have not been investigated in humans. We recruited 45 carriers (29 females, 16 males) with the m.3243A>G mutation and healthy controls matched for gender, age, height, and menopausal status. DXA and HRpQCT scans were performed, and bone t...
Source: Journal of Bone and Mineral Research - July 18, 2017 Category: Orthopaedics Authors: Jakob H øgild Langdahl, Anja Lisbeth Frederiksen, Stinus Jørn Hansen, Per Heden Andersen, Knud Bonnet Yderstræde, Morten Dunø, John Vissing, Morten Frost Tags: Original Article Source Type: research

Squamous cell carcinoma of the lung associated with anti-Jo1 antisynthetase syndrome: a case report and review of the literature
We report a case of an association of squamous cell carcinoma of the lung and anti-Jo1 antisynthetase syndrome. A 67-year-old man presented with polyarthritis, muscle weakness of the pelvic girdle, “mechanic’s hands,” and weight loss. A diagnosis of antisynthetase syndrome was considered based on the clinical features and the presence of anti-Jo1 antibodies. Positron emission tomography was performed because of weight loss and revealed a pulmonary hypermetabolic lesion. Histological find ings revealed squamous cell carcinoma. The patient underwent lobectomy and is currently free of symptoms with regular monitoring. T...
Source: Rheumatology International - June 24, 2017 Category: Rheumatology Source Type: research

Genome-wide Association Study of Susceptibility to Particulate Matter –Associated QT Prolongation
Conclusions: The findings suggest that biologically plausible genetic factors may alter susceptibility to PM10-associated QT prolongation in populations protected by the U.S. Environmental Protection Agency’s National Ambient Air Quality Standards. Independent replication and functional characterization are necessary to validate our findings. https://doi.org/10.1289/EHP347 Received: 11 April 2016 Revised: 07 September 2016 Accepted: 19 September 2016 Published: 08 June 2017 Address correspondence to R. Gondalia, Department of Epidemiology, University of North Carolina, 137 E. Franklin St., Chapel Hill, NC 27514. Te...
Source: EHP Research - June 8, 2017 Category: Environmental Health Authors: Daniil Lyalko Tags: Research Source Type: research

Mitochondrial point mutation m.3243A   >  G associates with lower bone mineral density, thinner cortices and reduced bone strength. A case‐control study
This article is protected by copyright. All rights reserved
Source: Journal of Bone and Mineral Research - June 1, 2017 Category: Orthopaedics Authors: Jakob H øgild Langdahl, Anja Lisbeth Frederiksen, Stinus Jørn Hansen, Per Heden Andersen, Knud Bonnet Yderstræde, Morten Dunø, John Vissing, Morten Frost Tags: Original Article Source Type: research

Quantitative imaging in acute inflammatory myopathy with 99mTc-PYP and 18F-FDG
Conclusion: Patients with newly onset, untreated IIM demonstrated muscular inflammation by 99mTc-PYP SPECT/CT as well as 18F-FDG PET/CT imaging. Patients had higher tracer uptake in skeletal muscles groups than the uptake in the same muscle groups in healthy controls. Quantification of the muscular tracer uptake with the potential to objectively distinguish physiology from pathophysiology could be a valuable tool in the diagnosis of challenging, rare diseases like IIMs. Whereas PET/CT images are inherently quantitative, quantification of the uptake of SPECT tracers is also feasible. Research Support: The study was funded b...
Source: Journal of Nuclear Medicine - May 24, 2017 Category: Nuclear Medicine Authors: Simonsen, J., Hvidsten, S., Hoilund-Carlsen, P. F., Thogersen, K., Gerke, O., Jacobsen, S., Diederichsen, L. Tags: Musculoskeletal Posters Source Type: research

Musculoskeletal manifestations of sarcoidosis.
Abstract Musculoskeletal manifestations in the context of sarcoidosis are frequently observed. The rheumatologist regularly encounters this disease in clinical practice. In the present review, we aim to give a current overview of the manifestations and treatments relevant to the practicing rheumatologist. The most frequently encountered manifestation is Lofgren's syndrome, which is characterized by bilateral ankle periarthritis, bilateral hilar lymphadenopathy, and erythema nodosum and has an excellent prognosis. Chronic arthropathy most commonly manifests as oligoarthritis, which sometimes hampers its differenti...
Source: Zeitschrift fur Rheumatologie - May 9, 2017 Category: Rheumatology Authors: Korsten P, Chehab G Tags: Z Rheumatol Source Type: research

Large vessel vasculitis: a rare cause of isolated lower limb myopathy
Conclusions A thorough work up led to the diagnosis of polyarteritis nodosa as the cause of this patient’s isolated lower limb myopathy. No literature was found on this rare presentation of vasculitis.
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 8, 2017 Category: Neurosurgery Authors: El-Wahsh, S., Weerasinghe, D., McDougall, A. Tags: Abstracts Source Type: research

Intervention Effect on Fellow Muscle Biopsy Reading Accuracy in Inflammatory Myositis (P2.124)
Conclusions:Improved accuracy in the interpretation of IIM pathology amongst inexperienced muscle biopsy readers can support the use of a limited standardized educational program.Disclosure: Dr. Hamasaki has nothing to disclose. Dr. Jawdat has nothing to disclose. Dr. Kimple has nothing to disclose. Dr. Dimachkie has received personal compensation for activities with Pfizer, Depomed, Merck, CSL-Behring, Nufactor, Biomarin, Baxter and Catalyst as a consultant and/or speaker. Dr. Pasnoor has nothing to disclose. Dr. Statland has received personal compensation for activities with Sarepta, ATYR Bristol Meyers Squib, Acceleron,...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Hamasaki, A., Jawdat, O., Kimple, D., Dimachkie, M., Pasnoor, M., Statland, J., Barohn, R., Glenn, M., Herbelin, L. Tags: Myopathies & amp;amp; Myasthenia Gravis II Source Type: research

Inflammatory myopathy in a patient with collagen VI mutations.
PMID: 28097933 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Rheumatology - January 17, 2017 Category: Rheumatology Authors: Papa R, Fiorillo C, Malattia C, Minoia F, Caorsi R, Assereto S, Iacomino M, Savarese M, Nigro V, Bruno C, Minetti C, Picco P Tags: Scand J Rheumatol Source Type: research

What is the third serological marker associated with immune-mediated necrotizing myopathy?
PMID: 28067601 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Rheumatology - January 8, 2017 Category: Rheumatology Authors: Tanaka T, Suzuki S, Nishino I, Hamaguchi Y, Fujimoto T Tags: Scand J Rheumatol Source Type: research

Fahr and further
We read with interest the case report by Schattneret al.1 In their clinical picture, bilateral basal ganglia calcification, incidentally found on CT head scan in an elderly diabetic female with vertigo, was deemed to represent Fahr's disease, a neurodegenerative condition characterized by intracerebral calcium deposition. Similar pathology was subsequently detected in her daughter, suggesting a familial form; of note, the son was unaffected. Although the authors mention various associations of basal ganglia calcifications including mitochondrial myopathy, this possibility is dismissed because of a ‘lack of systemic invol...
Source: QJM - January 6, 2017 Category: Internal Medicine Source Type: research

Acquired Dysfibrinogenemia Caused by Autoantibody Inhibiting Fibrin Polymerization in a Patient with MELAS Syndrome and Bleeding Tendency.
We present a case of acquired dysfibrinogenemia caused by an autoantibody that inhibited fibrin polymerization in a patient previously diagnosed with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes). The patient showed prolonged PT, aPTT, and thrombin time. There was no factor deficiency but fibrinogen antigen and activity were decreased. ELISA for detection of fibrinogen antibodies were performed and IgG purified from the patient's plasma bound to fibrinogen more strongly than did control IgG, indicating the presence of a fibrinogen-specific antibody. Thrombin-mediated fibrin polymeriz...
Source: Annals of Clinical and Laboratory Science - November 30, 2016 Category: Laboratory Medicine Authors: Lee N, Kim JE, Yoo HJ, Gu J, Kim H, Chung J, Koh Y, Kim HK Tags: Ann Clin Lab Sci Source Type: research

Tacrolimus in combination with methotrexate and corticosteroid for the treatment of child-onset anti-signal recognition particle antibody-positive necrotizing myopathy.
PMID: 27897449 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Rheumatology - November 28, 2016 Category: Rheumatology Authors: Kobayashi I, Tozawa Y, Ueki M, Takezaki S, Watanabe S, Iwafuchi H, Yamada M, Kuwana M, Ariga T Tags: Scand J Rheumatol Source Type: research