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Sainan Bian, Hua Chen, Li Wang, Yunyun Fei, Yunjiao Yang, Linyi Peng, Yongzhe Li, Fengchun Zhang
Patients with primary biliary cholangitis (PBC) can have extrahepatic manifestations. However, data about cardiac involvement of PBC is limited. We aimed in this study to analyze the clinical characteristics in patients with PBC complicated with and without cardiac involvement, and the risk factors of cardiac involvement in PBC. PBC patients admitted to Peking Union Medical College Hospital between January 2002 and February 2016 were consecutively enrolled. Structured interview, systemic rheumatologic examination, and laboratory tests were conducted for each patient, and risk factors of cardiac involvement were analyzed by comparing patients with and without cardiac involvement...
2018: PloS One
Ya-Mei Zhang, Han-Bo Yang, Jing-Li Shi, He Chen, Xiao-Ming Shu, Xin Lu, Guo-Chun Wang, Qing-Lin Peng
Autoantibodies against poly-U-binding factor 60 kDa protein (PUF60) have been reported in Caucasian dermatomyositis (DM) patients. However, their clinical significance in idiopathic inflammatory myopathy (IIM) remains to be fully clarified. Our objective was to analyze the prevalence and clinical significance of anti-PUF60 antibodies in a large cohort of Chinese IIM patients. In our study, 388 IIM patients, 301 disease controls, and 167 healthy controls (HCs) were involved. An enzyme-linked immunosorbent assay (ELISA) was developed to detect serum anti-PUF60 levels and was validated using immunoblotting methods...
March 15, 2018: Clinical Rheumatology
Boaz Palterer, Gianfranco Vitiello, Alessia Carraresi, Maria Grazia Giudizi, Daniele Cammelli, Paola Parronchi
Idiopathic inflammatory myopathies represent a heterogeneous group of autoimmune diseases with systemic involvement. Even though numerous specific autoantibodies have been recognized, they have not been included, with the only exception of anti-Jo-1, into the 2017 Classification Criteria, thus perpetuating a clinical-serologic gap. The lack of homogeneous grouping based on the antibody profile deeply impacts the diagnostic approach, therapeutic choices and prognostic stratification of these patients. This review is intended to highlight the comprehensive scenario regarding myositis-related autoantibodies, from the molecular characterization and biological significance to target antigens, from the detection tools, with a special focus on immunofluorescence patterns on HEp-2 cells, to their relative prevalence and ethnic diversity, from the clinical presentation to prognosis...
2018: Clinical and Molecular Allergy: CMA
Linda R Wang, Adam D McIntyre, Robert A Hegele
BACKGROUND: Abetalipoproteinemia and homozygous hypobetalipoproteinemia are classical Mendelian autosomal recessive and co-dominant conditions, respectively, which are phenotypically similar and are usually caused by bi-allelic mutations in MTTP and APOB genes, respectively. Instances of more complex patterns of genomic variants resulting in this distinct phenotype have not been reported. METHODS: A 43 year-old male had a longstanding severe deficiency of apolipoprotein (apo) B-containing lipoproteins and circulating fat soluble vitamins consistent with either abetalipoproteinemia or homozygous familial hypobetalipoproteinemia (FHBL)...
March 14, 2018: Lipids in Health and Disease
Jiaze Tan, Haitao Yang, Jingchuan Fan, Yulan Fan, Fei Xiao
OBJECTIVES: Neutral lipid storage disease with myopathy (NLSDM) is a rare metabolic myopathy occurring owing to mutations in the patatin like phospholipase domain containing 2 (PNPLA2) gene. Till date, less than 50 patients with PNPLA2 mutations have been reported. In this study, we describe the clinical, pathological, and genetic findings, and muscle magnetic resonance imaging (MRI) changes in four Chinese patients with NLSDM. PATIENTS AND METHODS: Peripheral blood smears were stained using Wright's stain...
March 5, 2018: Clinical Neurology and Neurosurgery
James B Lilleker, Axel C P Diederichsen, Søren Jacobsen, Mark Guy, Mark E Roberts, Jamie C Sergeant, Robert G Cooper, Louise P Diederichsen, Hector Chinoy
Objectives: Limitations in the methods available for identifying cardiac involvement and accurately quantifying disease activity in the idiopathic inflammatory myopathies (IIMs) may contribute to poor outcomes. We investigated the utility of different serum muscle damage markers [total creatine kinase (CK), cardiac troponin T (cTnT) and cardiac troponin I (cTnI)] to address these issues. Methods: We assessed disease activity and cardiac involvement using the International Myositis Assessment and Clinical Studies Group core set measures in 123 participants with confirmed adult-onset IIM from the UK and Denmark...
March 12, 2018: Rheumatology
Maha Saber-Ayad, Shaista Manzoor, Ahmed El-Serafy, Ibrahim Mahmoud, Salah Abusnana, Nabil Sulaiman
BACKGROUND: Statin-induced myopathy has been linked to the C allele of a single nucleotide polymorphism (SNP) (rs4149056) of SLCO1B1 gene. This effect is more significant, but not restricted to simvastatin. Many studies have included European, American, African and Southeast Asian ancestries, but few were carried out on Middle Eastern population. AIM: To detect the prevalence of SLCO1B1 rs4149056 (521T>C) in Emirati population. METHOD: We recruited 282 Emiratis through the UAE National Diabetes and Lifestyle Project...
March 10, 2018: Diabetes Research and Clinical Practice
Hanbo Yang, Xin Lu, Qinglin Peng, Wei Jiang, Jingli Shi, Yamei Zhang, He Chen, Guochun Wang
OBJECTIVE: To investigate the associations between anti-NXP-2 autoantibody levels and disease activity as well as calcinosis severity. METHODS: The serum levels of anti-NXP-2 autoantibodies were determined in 709 idiopathic inflammatory myopathies (IIMs) and also serially measured by an in-house enzyme-linked immunosorbent assay using recombinant MORC3. Patients with anti-NXP-2 autoantibodies were divided into two subgroups: with or without calcinosis. The associations of anti-NXP-2 autoantibody levels with organ-specific disease activity, serum creatine kinase (CK) levels, and calcinosis severity were investigated in cross-sectional and longitudinal analyses...
March 13, 2018: Arthritis & Rheumatology
Masahiro Ueki, Ichiro Kobayashi, Shunichiro Takezaki, Yusuke Tozawa, Yuka Okura, Masafumi Yamada, Masataka Kuwana, Tadashi Ariga
OBJECTIVES: The aim of our study is to clarify the association of myositis-specific autoantibodies (MSAs) with clinical and laboratory features in Japanese patients with juvenile idiopathic inflammatory myopathies (JIIMs). METHODS: We retrospectively analyzed the frequency of MSAs and their association with clinical or laboratory findings in 25 Japanese patients with JIIMs in Hokkaido district. RESULTS: Eighteen of 25 patients (72%) were positive for MSAs; seven with anti-melanoma differentiation associated gene (MDA) 5 (28%), 5 with anti-transcriptional intermediary factor (TIF)-1γ (20%), 4 with anti-MJ/nuclear matrix protein (NXP)-2 (16%), 2 with anti-Jo-1 (8%), 1 with anti- HMG-CoA reductase, 1 with anti-signal recognition peptide (SRP) antibodies (4% each), including co-existence and transition of MSAs in one patient each...
March 13, 2018: Modern Rheumatology
Md Fazlur Rahman, Radhika Raj, Rajgopal Govindarajan
Combination antiretroviral drug treatments depend on 3'-deoxy-nucleoside analogs such as AZT (3'-azido-3'-deoxythymidine) and DDI (2'3'-dideoxyinosine). Despite being effective in inhibiting HIV viral replication, these drugs produce a range of toxicities, including myopathy, pancreatitis, neuropathy and lactic acidosis, that are generally considered as sequelae to mitochondrial damage. While the cell surface localized nucleoside transporters (e.g., human equilibrative nucleoside transporter 2 (hENT2), human concentrative nucleoside transporter 1 (hCNT1)) are known to increase the carrier mediated uptake of 3'-deoxy-nucleoside analogs into cells, another ubiquitously expressed intracellular nucleoside transporter, namely, hENT3, has been implicated in the mitochondrial transport of 3'-deoxy-nucleoside analogs...
March 12, 2018: Drug Metabolism and Disposition: the Biological Fate of Chemicals
Ali Maisam Afzali, Thomas Müntefering, Heinz Wiendl, Sven G Meuth, Tobias Ruck
Histopathological analyses of muscle specimens from myositis patients indicate that skeletal muscle cells play an active role in the interaction with immune cells. Research over the last few decades has shown that skeletal muscle cells exhibit immunobiological properties that perfectly define them as non-professional antigen presenting cells. They are able to present antigens via major histocompatibility complex molecules, exhibit costimulatory molecules and secrete soluble molecules that actively shape the immune response in an either pro- or anti-inflammatory manner...
March 8, 2018: Autoimmunity Reviews
Jolien Claessens, Thibaut Belmondo, Ellen De Langhe, Rene Westhovens, Koen Poesen, Sophie Hüe, Daniel Blockmans, Michael Mahler, Marvin J Fritzler, Xavier Bossuyt
Solid phase assays (SPAs) and automated microscope systems are increasingly used to screen for antinuclear antibodies (ANAs). The goal of this study was to evaluate the performance of three automated ANA screening assays; NOVA Lite HEp-2 using NOVA View® (NV, Inova Diagnostics), an automated indirect immunofluorescence method, EliA™ CTD Screen (Fluorescence Enzyme Immunoassay, FEIA; Thermo Fisher) and QUANTA Flash® CTD Screen Plus (Chemiluminescence immunoassay, CIA; Inova Diagnostics). The assays were performed on 480 diagnostic samples from patients with an ANA-associated rheumatic disease (AARD; systemic lupus erythematosus, primary Sjögren's syndrome, systemic sclerosis, inflammatory myopathy, mixed connective tissue disease) and on 767 samples from diseased and healthy controls...
March 8, 2018: Autoimmunity Reviews
A Nascimento Osorio, J Medina Cantillo, A Camacho Salas, M Madruga Garrido, J J Vilchez Padilla
INTRODUCTION: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease...
March 8, 2018: Neurología: Publicación Oficial de la Sociedad Española de Neurología
Airi Nishimi, Takeo Isozaki, Shinichiro Nishimi, Sho Ishii, Takahiro Tokunaga, Hidekazu Furuya, Kuninobu Wakabayashi, Tsuyoshi Kasama
The original version of this article, unfortunately, contained errors. Figure citation, caption, image and updated sentence in the Result section are now presented correctly in this article.
March 10, 2018: Clinical Rheumatology
Elliot M Silver, William Ochoa
BACKGROUND Chronic intake of high-dose corticosteroids is associated with multiple adverse clinical effects, including hypertension, insulin resistance, impaired wound healing, immunosuppression, myopathy, and osteoporosis. In cases of autoimmune disease, use of steroid-sparing treatment modalities is preferred over chronic steroid therapy to limit these side effects. Glucocorticoid-induced myopathy is a less common side effect of chronic steroid use in patients treated with <10 mg/day of prednisone. However, doses exceeding 40-60 mg/day can induce clinically significant myopathy and weakness...
March 11, 2018: American Journal of Case Reports
Angel Santos Briz, Anaid Calle, Konstantinos Linos, Bruce Semans, Andrew Carlson, Omar P Sangüeza, Dieter Metze, Lorenzo Cerroni, José Luis Díaz-Recuero, Victoria Alegría-Landa, José Manuel Mascaró, Carmen Moreno, Jose Luis Rodríguez-Peralto, Luis Requena
BACKGROUND: Panniculitis occurring in dermatomyositis is uncommon, with only a few cases described in the literature, most of them as case reports. OBJECTIVE: This report describes the clinico-pathological and immunohistochemical findings in a series of 18 patients with panniculitis associated to dermatomyositis. METHODS: In each patient we collected the clinical data of the cutaneous lesions as well as the characteristic clinical and laboratory findings...
March 10, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Akiomi Yoshihisa, Yusuke Kimishima, Takatoyo Kiko, Yu Sato, Shunsuke Watanabe, Yuki Kanno, Satoshi Abe, Makiko Miyata, Takamasa Sato, Satoshi Suzuki, Masayoshi Oikawa, Atsushi Kobayashi, Takayoshi Yamaki, Hiroyuki Kunii, Kazuhiko Nakazato, Takafumi Ishida, Yasuchika Takeishi
Titin is associated with myocardial stiffness and hypertrophy, and mutations in its gene have been identified in cardiac myopathies such as dilated cardiomyopathy (DC). It has recently been reported that in damaged muscle, the N-terminal fragment of titin (Titin-N) is cleaved by calpain-3, and urinary Titin-N (U-TN) could be a marker of sarcomere damage. We aimed to investigate the impact of U-TN on prognosis of DC. We measured urinary levels of Titin-N/creatinine ratio (U-TN/Cr; pmol/mg/dl) in 102 patients with DC, and followed up all the patients (mean 1,167 days)...
February 12, 2018: American Journal of Cardiology
U Plöckinger, V Prasad, A Ziagaki, N Tiling, A Poellinger
BACKGROUND: Pompe disease (PD) is an autosomal recessive, lysosomal storage disease due to a mutation of the acid α-glucosidase (GAA) gene. In adult patients, PD is characterized by slowly progressive limb-girdle and trunk myopathy and restrictive respiratory insufficiency. Enzyme replacement therapy (ERT) is available, improving or stabilizing muscle-function in some and slowing deterioration in other patients. Unfortunately, there is no biomarker available to indicate therapeutic efficacy and/or disease activity...
March 9, 2018: Human Genomics
Ying Hou, Yue-Bei Luo, Tingjun Dai, Kai Shao, Wei Li, Yuying Zhao, Jian-Qiang Lu, Chuanzhu Yan
The European Neuromuscular Centre (ENMC) pathological classification criteria of idiopathic inflammatory myopathies (IIMs) are debatable. The aim of this study was to explore their practicability and reproducibility. We conducted a retrospective analysis of 57 cases of IIMs excluding dermatomyositis (DM) and sporadic inclusion body myositis (sIBM) by in-depth analysis of muscle biopsies and comparisons of the clinical characteristics among polymyositis (PM), non-specific myositis (NSM) and necrotizing autoimmune myopathy (NAM)...
March 7, 2018: Journal of Neuropathology and Experimental Neurology
F Chen, W Yuan, X Mo, J Zhuang, Y Wang, J Chen, Z Jiang, X Zhu, Q Zeng, Y Wan, F Li, Y Shi, L Cao, X Fan, S Luo, X Ye, Y Chen, G Dai, J Gao, X Wang, H Xie, P Zhu, Y Li, X Wu
Four-and-a-half LIM domains protein 1 (FHL1) mutations are associated with human myopathies. However, the function of this protein in skeletal development remains unclear. Zebrafish Fhl1A is the homologue of human FHL1. In the present study, we showed that fhl1A knockdown causes defective skeletal muscle development, while injection with fhl1A mRNA largely recovered the muscle development in these fhl1A morphants. We also demonstrated that fhl1A knockdown decreases the number of satellite cells. This decrease in satellite cells and the emergence of skeletal muscle abnormalities were associated with alterations in the gene expression of myoD, pax7, mef2ca and skMLCK...
March 7, 2018: Current Molecular Medicine
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