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myopathies review

Abdulhadi Jfri, Ali Alajmi
BACKGROUND: Keloids are benign fibroproliferative tumors that extend beyond the original wound. Spontaneous keloids are those that result without a significant history of trauma. There are multiple reported cases in the literature. OBJECTIVE: This article provides a summary and review of the cases that have been reported with spontaneous keloids and organizes them according to their associated medical conditions. METHODS: A literature review was conducted using PubMed and MEDLINE that included all English published cases and case series from May 1955 to February 2018...
August 16, 2018: Dermatology: International Journal for Clinical and Investigative Dermatology
Juqiang Han, Shuai Wang, Thomas Ngai Yeung Kwong, Jian Liu
RATIONALE: Dermatomyositis is an idiopathic inflammatory myopathy with specific cutaneous manifestations, which is closely associated with malignancy. However, the exact mechanism remains elusive. Even less is known about dermatomyositis with hepatocellular carcinoma (HCC). PATIENT CONCERNS: We reported a case of dermatomyositis with hepatitis B virus (HBV) infection. He incidentally found his lower limbs little weakness accompanied with his wrist erythema. He was found HBsAg positive for forty years with slightly positive of α-fetal protein (AFP)...
August 2018: Medicine (Baltimore)
Feifei Su, Jing Miao, Xuemei Liu, Xiaojing Wei, Xuefan Yu
Distal myopathy with rimmed vacuoles (DMRV) is a rare, autosomal, recessive inherited disease caused by mutations in the GNE gene. DMRV is an adult-onset disorder characterized by progressive muscle atrophy and weakness, which initially involves the distal muscles with quadriceps sparing. To date, >150 GNE mutations have been reported in different populations from around the world. The present study investigated the clinical, pathological and genetic characteristics of seven unrelated DMRV patients from China...
August 2018: Experimental and Therapeutic Medicine
Farwa Ali, Joseph Y Matsumoto, Anhar Hassan
Background: We sought to determine the etiologies, diagnostic testing, and management of a retrospective cohort of patients with camptocormia evaluated at a single center. Methods: We reviewed medical records of all adult patients evaluated at Mayo Clinic Rochester with a diagnosis of camptocormia from 2000 to 2014. Demographic and clinical data were abstracted and analyzed. Results: There were 276 patients (58.0% male), with mean age at presentation of 68...
June 2018: Neurology. Clinical Practice
Hichem Tasfaout, Belinda S Cowling, Jocelyn Laporte
Centronuclear myopathies are a group of congenital myopathies characterized by severe muscle weakness, genetic heterogeneity, and defects in the structural organization of muscle fibers. Their names are derived from the central position of nuclei on biopsies, while they are at the fiber periphery under normal conditions. No specific therapy exists yet for these debilitating diseases. Mutations in the myotubularin phosphoinositides phosphatase, the GTPase dynamin 2, or amphiphysin 2 have been identified to cause respectively X-linked centronuclear myopathies (also called myotubular myopathy) or autosomal dominant and recessive forms...
July 28, 2018: Journal of Neuromuscular Diseases
Emily R Vasiljevski, Matthew A Summers, David G Little, Aaron Schindeler
Lipid storage myopathies (LSMs) are a heterogeneous group of genetic disorders that present with abnormal lipid storage in multiple body organs, typically muscle. Patients can clinically present with cardiomyopathy, skeletal muscle weakness, myalgia, and extreme fatigue. An early diagnosis is crucial, as some LSMs can be managed by simple nutraceutical supplementation. For example, high dosage l-carnitine is an effective intervention for patients with Primary Carnitine Deficiency (PCD). This review discusses the clinical features and management practices of PCD as well as Neutral Lipid Storage Disease (NLSD) and Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)...
August 9, 2018: Progress in Lipid Research
Volker Nehls
Triiodothyronine (T3) is a key regulator of bone, muscle and articular cartilage. Musculoskeletal symptoms of hyperthyroidism include loss of bone mass finally leading to osteoporosis and weakness of the skeletal musculature. Hypothyroidism on the other side frequently leads to muscle stiffness and cramping and, occasionally, results in rhabdomyolysis. To prevent terminal differentiation of chondrocytes with consecutive cartilage degeneration, cartilage probably depends on exact regulation of local T3 availability by the intracellular deiodinase system...
August 2018: Deutsche Medizinische Wochenschrift
Elani Streja, Dan A Streja, Melissa Soohoo, Carola-Ellen Kleine, Jui-Ting Hsiung, Christina Park, Hamid Moradi
Precision medicine is an emerging field that calls for individualization of treatment strategies based on characteristics unique to each patient. In lipid management, current guidelines are driven mainly by clinical trial results that presently indicate that patients with non-dialysis-dependent chronic kidney disease (CKD) should be treated with a β-hydroxy β-methylglutaryl-CoA reductase inhibitor, also known as statin therapy. For patients with end-stage kidney disease (ESKD) being treated with hemodialysis, statin therapy has not been shown to successfully reduce poor outcomes in trials and therefore is not recommended...
July 2018: Seminars in Nephrology
Mamatha Pasnoor, Richard J Barohn, Mazen M Dimachkie
PURPOSE OF REVIEW: Our aim is to highlight major advances reported in the last few years in drug-induced muscle toxicity. RECENT FINDINGS: Our focus is on myopathies induced by statins and immune checkpoint inhibitors with a brief overview of rare steroid myopathies. Statin muscle injury is frequently because of direct toxicity rather than an autoimmune mechanism. Laboratory testing and muscle pathologic features distinguish these two conditions. Statin-associated necrotizing autoimmune myopathy (SANAM) is associated with an autoantibody in 66% of cases targeting the HMGCR enzyme...
August 4, 2018: Current Opinion in Neurology
Mary-Louise C Greer
Whole-body MRI is increasingly utilized for assessing oncologic and non-oncologic diseases in infants, children and adolescents. Focusing on the non-oncologic indications, this review covers technical elements required to perform whole-body MRI, the advantages and limitations of the technique, and protocol modifications tailored to specific indications. Rheumatologic diseases account for the majority of non-oncologic whole-body MRI performed in pediatric patients at the author's institution. Whole-body MRI helps in establishing the diagnosis, documenting disease extent and severity, and monitoring treatment response in enthesitis-related arthritis (ERA) and chronic recurrent multifocal osteomyelitis (CRMO)...
August 2018: Pediatric Radiology
Leandro Ladislau, Louiza Arouche-Delaperche, Yves Allenbach, Olivier Benveniste
PURPOSE OF REVIEW: This review provides an overview of the potential pathogenic roles of anti-SRP and anti-HMGCR in IMNM over the past 5 years. RECENT FINDINGS: Idiopathic inflammatory myopathies (IIM) are a group of acquired autoimmune disorders that mainly affect the skeletal muscle tissue. Classification criteria of IIM are comprised of polymyositis, dermatomyositis, inclusion body myositis and immune-mediated necrotizing myopathies. One important hallmark of autoimmune diseases is the detection of autoantibodies in patient sera...
August 3, 2018: Current Rheumatology Reports
Aniruddh Kapoor, Philip Vaidyan, Basmah Jalil, Chitra Upaluri
Anti-synthetase syndrome (AS) is a heterogeneous group of systemic autoimmune diseases associated with anti-aminoacyl-transfer RNA synthetases. These inflammatory myopathies present with a constellation of symptoms including myositis, arthritis, Raynaud's phenomenon, and interstitial lung disease (ILD). We present a novel case of a 44-year-old female, who presented with Anti-OJ AS with severe myopathy and rhabdomyolysis without evidence of ILD, which, in our literature review and to the best of our knowledge, has not been previously reported...
June 20, 2018: European Journal of Rheumatology
Christopher Lo, Shoaib Ugradar, Daniel Rootman
Orbital imaging plays a central role in the diagnosis and management of thyroid-related orbitopathy (TRO). Diagnostically, it is used to compliment a careful ophthalmic examination, laboratory values, and ancillary studies to confirm the presence of TRO and/or dysthyroid optic neuropathy (DON). It can also be helpful in surgical planning and understanding the progression of thyroid myopathy. Computed tomography (CT), magnetic resonance imaging (MRI), ultrasound, and nuclear medicine all have applications in the field...
July 25, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Elif Kocasoy Orhan, Leyla Baysal Kiraç, Pınar Yalinay DİKmen, Zeliha Matur, Mustafa Ertaş, A Emre Öge, Feza Deymeer, Jale Yazici, M Barş Baslo
Introduction: Electrodiagnostic evaluation provides an important extension to the neurological examination for the evaluation of pediatric neuromuscular disease. Many pediatric neuromuscular diseases are analogous to those seen in the adult. However, the relative frequency of these illnesses varies greatly when different age populations are compared. The purpose of the present study is to provide a retrospective analysis of children referred to our electromyography (EMG) laboratory for electrophysiological examinations...
March 2018: Noro Psikiyatri Arsivi
Alexander Kushnir, Benjamin Wajsberg, Andrew R Marks
Regulation of intracellular calcium (Ca2+ ) is critical in all cell types. The ryanodine receptor (RyR), an intracellular Ca2+ release channel located on the sarco/endoplasmic reticulum (SR/ER), releases Ca2+ from intracellular stores to activate critical functions including muscle contraction and neurotransmitter release. Dysfunctional RyR-mediated Ca2+ handling has been implicated in the pathogenesis of inherited and non-inherited conditions including heart failure, cardiac arrhythmias, skeletal myopathies, diabetes, and neurodegenerative diseases...
July 21, 2018: Biochimica et Biophysica Acta
Li Wang, Li Huang, Yang Yang, Huan Chen, Yanjuan Liu, Ke Liu, Meidong Liu, Yizhi Xiao, Hui Luo, Xiaoxia Zuo, Yisha Li, Xianzhong Xiao, Huali Zhang
Autoantibodies in patients with myositis may associate with specific clinical manifestations. This study aimed to identify a subset of patients with myositis carrying antinuclear matrix protein 2 (anti-NXP-2) antibodies using an unlabeled immunoprecipitation (IP) assay, and clarify the features of these patients in a Chinese cohort. We developed novel methods for unlabeled protein IP and immunoblotting of Myc-tagged truncated NXP-2 fragments for anti-NXP-2 detection. The sera of 120 Chinese adult patients with myositis were screened for anti-NXP-2 by IP and immunoblot...
July 23, 2018: Clinical Rheumatology
Nicolai Preisler, Mette Cathrine Orngreen
PURPOSE OF REVIEW: Regular exercise improves muscle and cardiovascular function, which is why exercise is used as an adjuvant treatment in myopathies. In this review, we provide an update on recent exercise studies (from 2016) performed in humans with inherited myopathy. RECENT FINDINGS: Several studies provide new and interesting insight in the field of exercise in myopathies. A retrospective cohort study suggests that exercise may actually increase rate of disease progression in dysferlinopathy, and high intensity exercise, which is normally discouraged in muscle disorders because of the risk of muscle damage, is demonstrated to be an efficient time saving mode of exercise to train patients with facioscapulohumeral muscular dystrophy...
July 20, 2018: Current Opinion in Neurology
A Karsanidze, N Antelava, N Gorgasledze, M Ghonghadze, M Okudzhava, K Pachkoria
The review analyzes the literature data, which covers the intolerance of statins associated with myopathy. The article gives a definition of statin intolerance, analyzed data from a randomized, controlled trials, where are indicated frequency of statin-associated myopathy, its symptoms in juxtaposition with an increase in creatine kinase activity. It is noted that the frequency of complications depends on the applied statin, its dose, duration, the use of other risk factors that contribute to the development of myopathy...
June 2018: Georgian Medical News
Namita A Goyal, Tahseen Mozaffar
PURPOSE OF REVIEW: The purpose of this review is to update the audience on the recent progress in the treatment of idiopathic inflammatory myopathies, highlighting a myriad of treatment trials aimed at slowing down progression of muscle weakness and/or skin involvement in idiopathic inflammatory myopathies. RECENT FINDINGS: Myositis continues to be an active area of clinical and translational research. Through the work of a number of investigators, we now have a much better understanding of the pathogenesis underlying the various myositides...
July 23, 2018: Current Treatment Options in Neurology
Yun Ge, Man Huang, Yong-Ming Yao
Autophagy is a ubiquitous cellular process that regulates cell growth, survival, development and death. Its process is closely associated with diverse conditions, such as liver diseases, neurodegenerative diseases, myopathy, heart diseases, cancer, immunization, and inflammatory diseases. Thus, understanding the modulation of autophagy may provide novel insight into potential therapeutic targets. Autophagy is closely intertwined with inflammatory and immune responses, and cytokines may help mediate this interaction...
July 18, 2018: Cytokine & Growth Factor Reviews
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