Journal articles on the topic 'Musculo skeletal disease'
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Perry, J. David. "Electrodiagnosis in musculo-skeletal disease." Best Practice & Research Clinical Rheumatology 19, no. 3 (June 2005): 453–66. http://dx.doi.org/10.1016/j.berh.2005.01.007.
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Wright, Stephen. "Musculo-skeletal and neurological aspects of Lyme disease." International Musculoskeletal Medicine 38, no. 3-4 (October 2016): 91–94. http://dx.doi.org/10.1080/17536146.2016.1226462.
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Landau, Kurt, Regina Brauchler, Marianela Diaz-Meyer, Johannes Kiesel, Andreas Lenz, Herwig Meschke, and Angelika Presl. "Occupational stress factors and musculo-skeletal disease in patients at a rehabilitation center." Occupational Ergonomics 10, no. 4 (September 26, 2012): 139–53. http://dx.doi.org/10.3233/oer-2012-0198.
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Disorders of the musculo-skeletal system are one of the main occupational diseases occurring in industrial countries and the number of reported cases is rapidly increasing, especially among the older age groups. Musculo-skeletal diseases can be influenced by a number of stress factors arising during physical work. The aim of this study is to identify the physical work stress factors, to which persons already suffering from musculo-skeletal diseases (patients at a rehabilitation center) have been exposed in their work, and, firstly, to examine whether these data can be used to predict the probability of future musculo-skeletal disorders in workers occupying this type of job, secondly, to determine how these factors interact with each other in the development of these disorders. Trained specialists in occupational medicine using a program called Medical Job-oriented Rehabilitation (MJOR), collected data on 6668 patients by means of a standardized checklist called Bavaria Rehabilitation Assessment Method (BRA). Analysis of the recursive binary partitioning trees revealed that 19 predictor variables corresponding to age and gender, plus repetitive operations, rotation in sedentary position, degree of hand force used and forced head/neck postures were good predictors for the disorders of the hand-/arm system, the cervico-brachial syndrome and the impingement syndrome of shoulder.
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Lewith, George. "Acupuncture Points and Trigger Points: Their Use in Musculo-skeletal Disease." Journal of Orthopaedic Medicine 15, no. 1 (January 1993): 8–9. http://dx.doi.org/10.1080/1355297x.1993.11719707.
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Balogun, Rufai A., Dike C. Obalum, Suleiman O. Giwa, Thomas O. Adekoya-Cole, Chidiebere N. Ogo, and George O. Enweluzo. "Spectrum of musculo-skeletal disorders in sickle cell disease in Lagos, Nigeria." Journal of Orthopaedic Surgery and Research 5, no. 1 (2010): 2. http://dx.doi.org/10.1186/1749-799x-5-2.
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Barbieri, Enza, Giovanni Frezza, Ombretta Martelli, Stefano Neri, Mario Mercuri, Franco Gherlinzoni, Gaetano Bacci, Antonia Mancini, Carlo Putti, and Lucio Babini. "Non Conventional Fractionation in Radiotherapy of the Musculo-Skeletal Sarcomas." Tumori Journal 84, no. 2 (March 1998): 167–70. http://dx.doi.org/10.1177/030089169808400213.
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In 1989 we started an accelerated hyperfractionated schedule of radiotherapy (two 1.6 Gy daily fractions) in standard risk localized Ewing's sarcoma of bone, with the aim at reducing late effects in young patients and at improving disease control through a better integration of treatment modalities. From 1991, the same schedule was used in preoperative radiotherapy of adult soft tissue sarcomas of the extremities: the main purpose was to reduce the time to surgery and to evaluate surgical complications in comparison with a previous experience of hypofractionated radiotherapy (one 3 Gy daily fraction). From 1991 to 1997, 76 patients with Ewing's sarcoma and 24 patients with soft tissue sarcoma were treated at our Institution. Results and complication rates are analyzed in comparison with historical data. In Ewing's sarcoma, a correct evaluation of improvement in local control was difficult because of changing treatment policy (bulky disease was not included in the present series). Late effects, as evaluated in patients with a minimum follow-up of 3 years, occurred with similar incidence, but at higher total dose levels in patients treated with accelerated hyperfractionation. In patients with soft tissue sarcomas, incidence of surgical complications is reduced as compared to historical experience. Major problems of wound healing were seen in association with intraoperative brachitherapy boost.
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Burdea, G. C. "Virtual Rehabilitation – Benefits and Challenges." Methods of Information in Medicine 42, no. 05 (2003): 519–23. http://dx.doi.org/10.1055/s-0038-1634378.
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Summary Objectives: To discuss the advantages and disadvantages of rehabilitation applications of virtual reality. Methods: VR can be used as an enhancement to conventional therapy for patients with conditions ranging from musculo-skeletal problems, to stroke-induced paralysis, to cognitive deficits. This approach is called “VR-augmented rehabilitation.” Alternately, VR can replace conventional interventions altogether, in which case the rehabilitation is “VR-based.” If the intervention is done at a distance, then it is called “telerehabilitation.” Simulation exercises for post-stroke patients have been developed using a “teacher object” approach or a video game approach. Simulations for musculo-skeletal patients use virtual replicas of rehabilitation devices (such as rubber ball, power putty, peg board). Phobia-inducing virtual environments are prescribed for patients with cognitive deficits. Results: VR-augmented rehabilitation has been shown effective for stroke patients in the chronic phase of the disease. VR-based rehabilitation has been improving patients with fear of flying, Vietnam syndrome, fear of heights, and chronic stroke patients. Telerehabilitation interventions using VR have improved musculo-skeletal and post-stroke patients, however less data is available at this time. Conclusions: Virtual reality presents significant advantages when applied to rehabilitation of patients with varied conditions. These advantages include patient motivation, adaptability and variability based on patient baseline, transparent data storage, online remote data access, economy of scale, reduced medical costs. Challenges in VR use for rehabilitation relate to lack of computer skills on the part of therapists, lack of support infrastructure, expensive equipment (initially), inadequate communication infrastructure (for telerehabilitation in rural areas), and patient safety concerns.
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Kagramanova, Anna V., Oleg V. Knyazev, Oleg V. Knyazev, Oleg V. Knyazev, Dmitrii S. Kulakov, Dmitrii S. Kulakov, Dmitrii S. Kulakov, et al. "Interdisciplinary approach is a key of efficient treatment in patients with immunoinflammatory diseases. Case report." Consilium Medicum 23, no. 5 (2021): 440–43. http://dx.doi.org/10.26442/20751753.2021.5.200821.
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The article is devoted to clinical case of concomitant immune-inflammatory diseases: Crohn disease, ankylosing spondylitis, primary sclerosing cholangitis. Chronic immunoinflammatory diseases (CID) caused disability, characterized by similar genetic and immunological factors. The emergence of genetically engineered biological drugs has changed the prognosis for both musculo-skeletal diseases and inflammatory bowel disease (IBD). The intersection of the therapeutic spectrum in CID is a very important point in choosing the tactics of management of patients with these pathologies. This clinical case demonstrates the importance of early diagnosis of immunoinflammatory diseases and application of genetically engineered biological drugs, that contributes to prevention disability and enhancement of quality of life of IBD patients. It is concluded that treatment of immunoinflammatory diseases should be carried out taking into account the course of the IBD and the multidisciplinary approach, which requires close cooperation of doctors of various specialties.
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Rahman, M. A., M. A. Islam, M. A. Rahman, A. K. Talukder, M. S. Parvin, and M. T. Islam. "CLINICAL DISEASES OF RUMINANTS RECORDED AT THE PATUAKHALI SCIENCE AND TECHNOLOGY UNIVERSITY VETERINARY CLINIC." Bangladesh Journal of Veterinary Medicine 10, no. 1-2 (July 9, 2013): 63–73. http://dx.doi.org/10.3329/bjvm.v10i1-2.15648.
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This study was conducted at the Patuakhali Science and Technology University Veterinary Clinic, Babugonj, Barisal during the period from January 2008 to December 2011 to report the four years clinical diseases of ruminants. A total of 1241 clinical cases (793 cattle and 448 goats) were recorded and analyzed. Diagnosis of each of the clinical cases was made on clinical history, clinical signs, and faecal examination for parasitic cases. The clinical cases were primarily categorized into three major groups, namely, (1) Medicinal, (2) Gynaeco-obstetrical and (3) Surgical cases. Medicinal cases constituted highest percentage (cattle 84.1% and goats 81.0%) in comparison to gynaeco-obstetrical (cattle 4.7% and goats 1.1%) and surgical (cattle 11.2% and goats 17.9%) cases. Among the medicinal cases in cattle, highest percentage of cases was recorded with parasitic diseases (50.4%), followed by general systemic states (14.8%) and digestive disorders (14.2%). Other cases were respiratory disorders (5.5%), infectious diseases (4.6%), skin conditions (3.4%), eye disease (3.1%), urogenital disorders (1.5%), metabolic diseases (1.3%) and musculo-skeletal disorders (0.9%). In case of goats, the highest cases was recorded with digestive disorders (22.9%), followed by parasitic diseases (20.4%) and respiratory disorders (16.8%). Other Medicinal cases in goats were eye diseases (13.5%), infectious diseases (11.8%), general systemic states (9.6%), musculo-skeletal disorder (3.3%), skin diseases (0.8%) and nutritional deficiency diseases (0.8%). Among the gynaeco-obstetrical cases, anestrus (59.5%) in cattle and metritis (40.0%) in goats were recognized as the major gynaeco-obstetric problems. Traumatic wounds (cattle - 52.8%, goat - 28.8%) and castration (31.3%) in goats were recognized as the main disorders which required surgical interventions. It may be concluded that a number of diseases with various percentages have been occurring in the Babugonj upazila and this report will help to prioritize any control measures against major disease conditions reported in this study. However, it is required to estimate the prevalence of diseases in the population of that upazila to have more comprehensive information on the diseases of cattle and goat.DOI: http://dx.doi.org/10.3329/bjvm.v10i1-2.15648
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Dorozhkin, Sergey V. "Calcium Orthophosphate Bioceramics." Journal of Biomimetics, Biomaterials and Tissue Engineering 5 (February 2010): 57–100. http://dx.doi.org/10.4028/www.scientific.net/jbbte.5.57.
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Ceramics used for the repair and reconstruction of diseased or damaged parts of the musculo-skeletal system, termed bioceramics, can be bioinert, bioresorbable and bioactive, as well as porous for tissue ingrowth. This review is devoted to calcium orthophosphates, which belong to the categories of bioresorbable and bioactive bioceramics. There have been a number of major advances made in this field during the past 30 – 40 years. From initial work on development of bioceramics that were tolerated in the physiological environment, emphasis has now shifted towards the use of bioceramics that interact with bone tissue by forming a direct bond. By structural and compositional control, it is now possible to choose whether the bioceramics of calcium orthophosphates are biologically stable once incorporated within the skeletal structure or whether they are resorbed over time. Current biomedical applications of calcium orthophosphate bioceramics include replacements for hips, knees, teeth, tendons and ligaments, as well as repair for periodontal disease, maxillofacial reconstruction, augmentation and stabilization of the jawbone, spinal fusion and bone fillers after tumor surgery.
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BHATTACHARJEE, BEDANTA, NIKITA DEY, DHUNUSMITA BARMAN, ARKA KARMAKAR, and NASIMA AHMED. "Understanding the drug delivery through nails: a comprehensive review." Journal of Drug Delivery and Therapeutics 11, no. 4 (July 15, 2021): 116–31. http://dx.doi.org/10.22270/jddt.v11i4.4941.
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The nail unit is the largest cutaneous musculo-skeletal appendage. The management of nail disorders is an onerous task owing to the disease manifestations and anatomical structure of the nail plate. The topical treatment of nail infections/disorders has been a centerpiece of nail research in the past few decades as it offers a much safer and focused alternative to conventional oral therapy. However, transungual delivery had its challenges. This necessitated a lookout for novel approaches that enhanced treatment efficacy and reduced treatment time. Moreover, curing the nail condition using topical delivery has been challenging due to the lack of a validated animal model to determine the efficacy of the formulation and to establish a mathematical model that can help in predicting the desirable attributes of the formulation and permeation of various molecules through the nail plate. This review is based on publications retrieved by a selective search in PubMed. The purpose of this review is to provide an overview of nail anatomy and its disorders, factors affecting nail delivery, diagnostic procedures, current approaches, and promising approaches to treat nail infections/disorders including nail lacquers and the role of permeation enhancers, in-vitro models. This review also covers current available treatments and treatments under clinical trial.
Keywords: Musculo-skeletal, Nail infection, Transungual, Mathematical model, In-vitro models.
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Valkov, H., M. Kovacheva-Slavova, I. Lyutakov, T. Angelov, P. Getsov, B. Vladimirov, and P. Penchev. "DISHphagia – A Riddle Unwrapped a Clinical Case with Literature Review." Acta Medica Bulgarica 48, no. 3 (October 1, 2021): 30–33. http://dx.doi.org/10.2478/amb-2021-0032.
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Abstract Diffuse idiopathic skeletal hyperostosis (DISH) is a common but underdiagnosed systemic skeletal disease. It is characterized by calcifications affecting mainly the spinal anterior longitudinal ligament. In the majority of cases, the patients are asymptomatic, but cervical osteophytes can sometimes cause hoarseness, dysphagia (DISHphagia) and even dyspnea. Case description: A 61-year-old man was admitted to our department with complaints of difficulty in swallowing and weight loss. Dysphagia had been increasing gradually for nine months. Barium swallow esophagram revealed asymmetric swallowing with expansion above the upper esophageal sphincter without other abnormalities. The extension was confirmed by esophago-gastro-duodenoscopy (EGD). Furthermore, CT scan of the thorax clearly demonstrated degenerative changes of the cervical and thoracic region, extensive ossification of the anterior longitudinal ligament, and osteophytes from C2-C7 with a forward displacement of the esophagus by 14 mm. The so-called “wax dripping down the candle” phenomenon was as well observed. Conclusion: DISH is a systematic, musculo-skeletal disease of older adults with unknown etiology. Dysphagia is the most common symptom of the disease and might be caused by osteophytes of the cervical region. We presented a case of DISH with a rare localization of the osteophytes in the cervical region C2-C7. Due to the increasing incidence of the Forestier’s syndrome and its associated “DISHphagia”, the gastroenterologist should increase the awareness of this underestimated disease and improve the diagnostic approach.
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Khan, Md Shah Zaman, AKM Shaheen Ahmed, AK Ahmed Zaman, Hasna Fahmima Haque, Mohammad Hosain, and AKM Asad Ud Doza. "Pattern of Musculo-Skeletal Disorders in Diabetic and Non-diabetic Patients Attending in a Tertiary Care Hospital in Dhaka." BIRDEM Medical Journal 8, no. 1 (December 27, 2017): 68–71. http://dx.doi.org/10.3329/birdem.v8i1.35043.
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Background: Disorders of the musculoskeletal (MSK) system affect all ages and ethnic groups. This study was done to see the pattern of MSK disorders in diabetic and non-diabetic patients at a tertiary care hospital.Methods: This cross-sectional study was done between period of June 2016-Feb 2017 in the Department of Physical Medicine and Rehabilitation of a tertiary care hospital in Dhaka. Six hundred individuals were included in the study, 300 in diabetic and 300 in non-diabetic group.Results: Diabetic group consisted with 95 (31.67%) males, 205 (68.33%) females. Non-diabetic group consisted with 176 (58.67%) males and 124 (41.33%) females. Osteoarthritis knees (CoA of (101, 33.67%), degenerative lumber disc disease (69, 23%), frozen shoulder (60, 20%), degenerative cervical disc disease (42, 14%) and non-specific back pain (22, 7.3%), were common among diabetic patients. Among non- diabetic patients nonspecific back pain (55, 18.33%), degenerative lumbar disc disease (52, 17.33%), degenerative cervical disc disease (41, 13.66%), OA of knees (38, 12.60%), prolapsed lumbar inter- vertebral disc (PLID) (30, 10%) were common.Conclusion: Degenerative, non-inflammatory abnormalities comprised the major bulk of problems. Soft tissue rheumatism was common in diabetic patients. Frozen shoulder was present in higher percentage in diabetic patients.Birdem Med J 2018; 8(1): 68-71
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Syurin, Sergey A., and V. V. Shilov. "The characteristics of vibration disease of miners in conditions of modern technologies of mining ore raw materials in the Kola High North." Health Care of the Russian Federation 60, no. 6 (May 24, 2019): 312–16. http://dx.doi.org/10.18821/0044-197x-2016-60-6-312-316.
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The study was carried out to analyze characteristics of development of vibration disease in miners of mineral resources' industry enterprises of the Kola High North in 1989-2013. Altogether, in miners of 16 professions 509 cases of primarily diagnosed vibration disease were established that amounted to 22.5% of all cases of occupational diseases. The vibration disease ranked second place in the structure of occupational pathology after diseases of musculo-skeletal system. During the analyzed period, the following characteristics of vibration pathology were established: 1. significant increasing of prevalence of vibration disease (especially in 2004-2013); 2. increasing among patients with vibration disease number of workers mainly involved into loading delivering operations (from 19,3% to 62,6%) and decreasing of percentage of workers involved into sinking and drilling operations; 3. increasing up to 11.1 years of duration of labor experience until moment of primary detection of vibration disease; 4. increasing from 7,7% to 69,5% of percentage of expressed clinical forms of vibration disease (vibration disease stage II) and decreasing of percentage of vibration disease with initial clinical manifestations of vibration disease (vibration disease stage I) among primarily diagnosed cases. Therefore, implementation of modern mining engineering with decreased levels of vibration and application of modern techniques of early diagnostic and prevention of vibration pathology and also organizational activities targeted to decreasing of level of impact of hazardous industrial factors resulted in no decreasing of risk of development of vibration disease in miners of mineral resources' industry enterprises of the Kola High North. The obtained data testify that statistical indices ofprevalence and severity of vibration pathology depend on interaction of many differently directed factors. Among these factors are labor conditions, level of medical preventive activities, quality of medical examinations and expertise decisions concerning relationship between health disorders and labor conditions, motivation to continue labor activity, etc.
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Hocking, P. M., and R. Bernard. "Effects of male body weight, strain and dietary protein content on fertility and musculo‐skeletal disease in naturally mated broiler breeder males." British Poultry Science 38, no. 1 (March 1997): 29–37. http://dx.doi.org/10.1080/00071669708417937.
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Saganuwan, Saganuwan Alhaji. "The Pattern of Sickle Cell Disease in Sickle Cell Patients from Northwestern Nigeria." Clinical Medicine Insights: Therapeutics 8 (January 2016): CMT.S38164. http://dx.doi.org/10.4137/cmt.s38164.
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Sickle cell disease is caused due to a genetic disorder, which accounts for people dying at an early age in Nigeria. A retrospective study of sickle cell disease patients was carried out with a view to determining the disease pattern in sickle cell patients from the Northwestern Nigeria. Case notes of 319 sickle cell patients were collected and reviewed retrospectively. The prevalence of sickle cell trait, comorbidity of sickle cell disease and malaria, and the effects of sickle cell disease and age on the weight and hematological parameters of sickle cell patients were determined and analyzed. Results showed the prevalence rate of sickle cell trait to be 61.8% (197) and that of non-sickle cell trait to be 38.2% (122). The sickle cell trait comprised 96 males (48.7%) and 101 females (51.3%). Among these patients, 51 (41.8%) males and 71 (58.2%) females had malaria. However, 35.4% (113) of sickle cell patients and 7.5% (24) of malaria patients showed anemia. Genotyping revealed 32 AS (16.2%), 102 SS (51.8%), SS+F (3.6%), and 56 SC (28.4%). The associated prevalence rates of clinical signs were pain/crisis 45.1% (89), pneumonia 28.4% (56), gastric disorders 9.1% (18), central nervous system (CNS) disorders 4.1% (8), renal diseases 2.5% (5), musculo-skeletal disorders 2.5% (5), conjunctivitis 0.5% (1), acute chest syndrome 0.5% (1), cholecystitis 0.5% (1), hemophilia 0.5% (1), fever 0.5% (1), priapism 2.0% (4), splenomegaly 2.0% (4), and epistaxis 1.5% (3). Few patients lived up to 49 years. There was significant difference ( P < 0.05) in hematological parameters of the patients from various age groups. The use of anti-sickling, hematonic, analgesic, anti-inflammatory, and antimalarial drugs in the treatment of the affected disease in patients might have improved their quality of life.
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Nguyen, Yann, Johanna Sigaux, Jean-Guillaume Letarouilly, Pauline Sanchez, Sébastien Czernichow, René-Marc Flipo, Martin Soubrier, et al. "Efficacy of Oral Vitamin Supplementation in Inflammatory Rheumatic Disorders: A Systematic Review and Meta-Analysis of Randomized Controlled Trials." Nutrients 13, no. 1 (December 30, 2020): 107. http://dx.doi.org/10.3390/nu13010107.
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Background: We aimed to provide a systematic review and meta-analysis of randomized controlled trials assessing the effect of oral vitamin supplementation on symptoms and disease activity in patients with rheumatoid arthritis (RA), spondyloarthritis (SpA) and psoriatic arthritis (PsA). Methods: A systematic literature review and meta-analysis of randomized controlled trials including patients with inflammatory rheumatic diseases were performed using MEDLINE, EMBASE and abstracts from recent international rheumatology congresses. Studies were reviewed in accordance with PRISMA guidelines. We analysed clinical outcomes according to each type of vitamin supplementation. Results. The initial search yielded 606 articles. Of these, 13 studies were included in the qualitative synthesis: eight studied vitamin D supplementation, two assessed vitamin E supplementation, two folic acid, and one vitamin K, all of them on RA patients. No studies on SpA or PsA were selected. Oral vitamin supplementations were not associated with a reduction in RA activity (DAS-28 or pain) or RA flares. Conclusions: Despite their beneficial effects, the effects of vitamin supplementation on RA activity, if any, seem to be limited. Evidence on their efficacy on SpA or PsA activity is lacking. However, folic acid supplementation should be suggested to prevent methotrexate-related side effects, and vitamin D should be given to patients with vitamin D deficiency to prevent musculo-skeletal complications.
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Wærholm, Adelheid-Charlotte, Eivind Meland, and Reidun L. S. Kjome. "Can subjective well-being and body concern in adolescence predict prescribed medication in adulthood? Findings from the Nord-Trøndelag Health Study and the Norwegian Prescription Database." Scandinavian Journal of Public Health 48, no. 5 (August 13, 2019): 559–66. http://dx.doi.org/10.1177/1403494819863516.
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Aim: To examine whether subjective well-being (SW) and body concern among adolescents aged 15–19 years has an impact on adult health, measured by medications dispensed on average 18 years later. Methods: Data collected in the Nord-Trøndelag Health Study (HUNT) was paired with data from the Norwegian Prescription database (NorPD). We investigated the effects of adolescent SW and body concern on total number of medications, on use of anti-infectives (ATC-group J), medication for the musculo-skeletal system (ATC-group M), anxiolytics, hypnotics and sedatives (ATC-groups N05B and N05C), and finally antipsychotics, antidepressants and psychostimulants, agents used for attention-deficit/hyperactivity disorder and nootropics (ATC-groups N05A, N06A and N06B). We used multi-variable models where we entered body dissatisfaction and SW simultaneously in the models in order to adjust for the associations between the predictors, and also adjusted for possible confounders in the models. Results: Both body concern (dieting and dieting desire) and impaired SW predicted drug use 17–18 years after the participants were surveyed in adolescence. The impact was disease specific as body concern was the most influential predictor for drugs used for somatic diseases and complaints, whereas impaired SW was more strongly associated with drug use for mental health diseases and complaints. Conclusions: SW and body concern are important health determinants in the transition between adolescence and adulthood.
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Федин, А. И. "Neurological Clinical Manifestations, Associated with COVID-19." Неврология и нейрохирургия. Восточная Европа, no. 2 (July 15, 2020): 312–29. http://dx.doi.org/10.34883/pi.2020.2.2.024.
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Представлен обзор литературы, посвященный неврологической патологии у больных новой коронавирусной болезнью COVID-19. Неврологические осложнения COVID-19 полиморфны по своей симптоматике и тяжести клинических проявлений. Описаны случаи церебральных осложнений COVID-19, включавшие инфаркт мозга, острую некротическую геморрагическую энцефалопатию, менингит и энцефалит. Случаи острых заболеваний периферической нервной системы при COVID-19 включали аносмию и агевзию, синдром Гийена – Барре, синдром Миллера Фишера, краниальный полиневрит. Также отмечались проявления со стороны мышечно-скелетной системы, такие как миалгия, утяжеление течения имеющихся у пациента нервно-мышечных заболеваний. Обсуждены возможные механизмы поражения нервной системы, включающие гипоксию и нарушение системной гемодинамики, эндотелиальную дисфункцию с гиперкоагуляцией и тромбозами, прямую инвазию вирусом, иммуноопосредованные реакции. The article represents a review of literature on neurological manifestations of the novel coronavirus disease COVID-19. Neurological complications of COVID-19 may include different signs and have different severity. Cases of cerebral complications of COVID-19 included ischemic stroke, acute hemorrhagic necrotizing encephalopathy, meningitis and encephalitis. Acute peripheral nerve system manifestations comprised anosmia and ageusia, Guillain – Barre syndrome, Miller Fisher syndrome, cranial polyneuritis. COVID-19 can cause musculo-skeletal complications, such as myalgia, complicated course of comorbid neuromuscular disease. Possible mechanisms for nerve system involvement are discussed, which include hypoxia, impaired systemic circulation, endothelial dysfunction with hypercoagulation and thromboses, direct viral invasion and immune-mediated reactions.
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Kailas, Rikal, and Kavitha Rikal. "AN ANATOMICAL REVIEW OF PRATARA SANDHI W. S. R. TO LUMBAR ANKYLOSING SPONDYLITIS." International Ayurvedic Medical Journal p4, no. 05 (July 30, 2020): 2367–74. http://dx.doi.org/10.46607/iamj01p4052020.
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Introduction: Ankylosing Spodylitis1 is a chronic inflammatory disorder that primarily involves the sacro iliac joint of the lumbar region. It is characterized by musculo skeletal pain, stiffness and immobility of spine and is one of the most common disease of the spine. Meeting place of two bones are known as San-dhi2,3. Total eight types of Sandhis4 are explained by Acharya Sushruta according to their shape and their movement. KORA, Ulukala, Samudga, Pratara, Tunnasevani, Vayasatunda, Mandala and Sankhavarta. Pratara Sandhi5 can be compared to joints of vertebral column and these joints are also considered in the context of Alpachala Sandhi6. Methods: The main objective of this study is aimed at Comprehensive Study and Conceptual Study on Kati Trika Prushtavamsha Sandi Shareera as mentioned in the Classics, Study the Structural Abnormalities of the Anatomy of Vertebral Column in Lumbar Ankylosing Spondylitis and to compare the Normal Radio-logical Structure of Lumbo Sacral Region with the Confirmed 30 cases of Lumbar Ankylosing Spondylitis. Results: All the Patients were observed before treatment by Objective and Subjective Criteria. Conclusion: As per the Study, Lumbar Ankylosing Spondylitis is more prone in young men than young women and lack of Spinal mobility with occupation has major role in this disease.
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Datta, Anjan, Kaushik Nag, Nabarun Karmakar, and Srabani Datta. "A study to assess common morbidity pattern of an urban population of Tripura." International Journal Of Community Medicine And Public Health 4, no. 12 (November 23, 2017): 4613. http://dx.doi.org/10.18203/2394-6040.ijcmph20175339.
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Background: To plan for effective health measures, knowledge regarding morbidity profile of local area is very important. Preventive health strategies cannot be made without an idea about the disease burden and changing trend of diseases of the locality. Keeping this background in mind the present study was conducted. The objective of the study was to assess the common morbidity pattern of people living in an urban area of Tripura.Methods: A community based cross-sectional study was conducted among people living in the filed practice area of Urban Health Training Centre, Dukli under Department of Community Medicine, Tripura Medical College & DR. BRAM Teaching Hospital, Hapania for a period of one year. Five hundred fourty participants were selected using simple random sampling technique and data was collected using a pre-designed pretested questionnaire and analyzed using SPSS version 20.0 software. Results: Majority (50.93%) of the study participants were females and belonged to 19-59 years age group (32.78%). The commonest type of morbidity was found to be acute respiratory infections (31.10%), followed by musculo-skeletal disorders (17.78%), with non-communicable diseases like diabetes mellitus, hypertension, obesity etc. catering 13.70% of all morbidities. Majority of the participants were having single morbidity (55.74%) than those having comorbidities. Conclusions: There is dual burden of communicable as well a non-communicable diseases in our study population. Future studies for risk factors assessment are required to plan for effective preventive strategies locally.
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Beyer-Westendorf, Jan, Vitalie Bogorad, Ingeborg Tautenhahn, Sandra Marten, and Sebastian M. Schellong. "Predictors of deep venous thrombosis in patients admitted to rehabilitation clinics after major orthopaedic surgery." Vasa 42, no. 1 (January 1, 2013): 40–49. http://dx.doi.org/10.1024/0301-1526/a000246.
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Background: Venous thromboembolism (VTE) is a frequent complication of major orthopaedic surgery; prolonged prophylaxis with anticoagulants is standard of care. However, late manifestation of VTE is common and little is known about the predictors of late deep vein thrombosis (DVT) and the distribution of proximal and distal DVT and isolated calf muscle vein thrombosis (MVT). Patients and methods: 482 patients admitted to a rehabilitation clinic (RC) after total hip or knee replacement (THR; TKR) or hip fracture surgery (HFS) underwent complete compression ultrasound (CCUS) screening for VTE within 72 hours after admission into RC. Predictors of VTE were evaluated. Results: DVT was prevalent in 74 events (14.7 %), consisting of 13 (2.7 %) proximal DVT, 17 (3.5 %) distal DVT and 41 (8.5 %) MVT, respectively. Multivariate analyses established history of VTE (OR for proximal DVT 7.0; 95 %-CI 1.9 - 25.9; OR for any DVT 3.9; 95 %-CI 1.7 - 8.9), female gender (OR 3.3; 95 %-CI 1.0 - 10.6), coronary artery disease (OR 3.8; 95 %-CI 1.1 - 12.9) and cancer (OR 8.0; 95 %-CI 1.8 - 35.5) as independent VTE predictors for proximal DVT. For MVT, age (OR 2.4; 95 %-CI 1.2 - 5.0) and a history of musculo-skeletal disease (OR 2.6; 95 %-CI 1.1 - 5.8) or autoimmune disease (OR 3.9; 95 %-CI 1.0 - 15.4) were found to be independent predictors. Conclusions: This study confirms well-known predictors of VTE and high rates of postoperative VTE despite optimal thromboprophylaxis. In addition, independent risk factors for proximal DVT and MVT were identified. The data support the concept or continuing thromboprophylaxis during rehabilitation after major orthopaedic surgery because a considerable percentage of patients had asymptomatic DVT at RC on admission. However, significant differences in the individual risk profile and the distribution pattern of DVT and MVT exist, which could be used for a more individualized thromboprophylaxis strategy.
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Mishra, Santosh Kumar, Anshuli Trivedi, Namita Neelkanth, and Anubhooti Trivedi. "A camp based screening of BMD in medical students: early detection of an iceberg phenomenon." International Journal of Research in Medical Sciences 6, no. 4 (March 28, 2018): 1273. http://dx.doi.org/10.18203/2320-6012.ijrms20181281.
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Background: Low Bone mineral density (BMD)/Osteopenia is an iceberg phenomenon. It is ignored by younger population and perceived as geriatric illness. As the study of medicine is very taxing its need of hour to detect low BMD amongst medical students to avoid musculo-skeletal disease due to low BMD in future.Methods: A DXA based technique was used to detect BMD amongst 72 under 25 years female medical students using nonrandom, opportunistic sampling technique. The data was collected in pre-designed pretested proforma and complied and analyzed using MS-Excel 2010 and Epi info-7.0. The data was expressed in percentages and proportions. Those with osteopenia were given appropriate medical advice.Results: In total 20.93% students had osteopenia and 55.56% participants had musculoskeletal complaints and most common being low back pain esp. in osteopenic participants. A statistically significant low level of BMD was observed amongst sunscreen users and physically inactive participants. No association was seen between BMD and BMI, regular, milk intake, type of diet or fasting.Conclusions: A significant number of female medical students were osteopenic and suffered from musculoskeletal disorders. A regular BMD assessment with calcium/vit D supplementation and regular physical exercise can restore/ conserve BMD. The currently available techniques can detect BMD in females but not in young males.
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Pereira, Adriano Pinto, Eluciene Maria dos Santos Carvalho, Ivo Ilvan Kerppers, Meiriélly Furmann, Juliana Aparecida Wosch Pires, Larissa Gulogurski Ribeiro, Marcos Paulo Polowei Rolão, and Afonso Shiguemi Inoue Salgado. "Assessment of Heart Rate Variability in Fibromyalgia after Micro-physiotherapy." Manual Therapy, Posturology & Rehabilitation Journal 12 (August 29, 2014): 189. http://dx.doi.org/10.17784/mtprehabjournal.2014.12.189.
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Introduction: Fibromyalgia syndrome is characterized by musculo-skeletal pain. Heart rate variability (HRV) is a versatile and promising non-invasive marker of the autonomous nervous system. Micro-physiotherapy involves manual physiotherapy that seeks to identify the primary cause of a disease or symptom and to stimulate self-healing, in which the body recognizes the aggressor (antigen) and begins the elimination process, through cellular and tissue reprogramming. Method: The sample was composed of 15 individuals, aged between 35 and 40 years, with fibromyalgia. The Nerve Express method was used to assess the variability of the heart rate. Two sessions of micro-physiotherapy were conducted using global methods, with an interval of 45 days between sessions. Results: Based on the HRV results, the high frequency band was confirmed at p=0.203, with the low frequency recording a statistically significant value of p=0.001, thereby demonstrating sympathetic activity. Upon comparison of the mean heartbeat before and after treatment, a value of p=0.0006 was obtained. A value of p=0.049 was recorded in the analysis of the median R-R interval values. Conclusion: The use of micro-physiotherapy as a treatment method for fibromyalgia effectively improved the lives of patients by promoting sympathicotonia.
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Kakimoto, Takuya, Akihiko Matsumine, Kunihiro Asanuma, Takao Matsubara, Tomoki Nakamura, and Akihiro Sudo. "The clinical outcomes of total femur prosthesis in patients with musculoskeletal tumors." SICOT-J 5 (2019): 23. http://dx.doi.org/10.1051/sicotj/2019020.
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Introduction: Reconstruction using a total femur prosthesis (TFP) remains a challenging procedure in musculoskeletal tumor surgery. The purpose of this study was to show the clinical outcomes of total femur replacement (TFR) in our institute. Methods: Nine patients underwent reconstruction with a TFP after the wide resection of malignant bone and soft-tissue tumors of the femur between January 2003 and April 2014. The mean age of the patients at the time of TFR was 47.5 years, and the mean follow-up period was 52.9 months. The histological diagnoses were as follows: bone sarcoma (n = 4), soft-tissue sarcoma invading the femoral bones (n = 4), and metastatic bone tumor (n = 1). Results: The oncological outcomes were as follows: three patients achieved continuous disease free, two patients were alive with disease, and four patients died from disease. The 3- and 5-year overall survival rates were 88.9% and 55.6%, respectively. The rate of the overall survival in patients with primary bone tumors (100% at 5 years) was significantly better than that in patients with primary soft tissue sarcomas (0% at 5 years) (p = 0.015). A deep infection occurred postoperatively in one patient, but the patient was successfully treated with surgical debridement and revision surgery. There were no patients who showed dislocation or aseptic loosening. The mean Musculo-Skeletal Tumor Society functional score was 58.5% (46.7–80.0), with scores of 65.5% in patients with a primary bone tumor and 50.8% in those with a primary soft-tissue sarcoma. Discussion: In the present study, the patients who underwent TFR due to bone invasion by soft tissue sarcoma had a worse prognosis than the bone sarcoma patients.
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Hayhoe, Simon, and Hillary Box. "A Questionnaire on Medical Acupuncture Practice." Acupuncture in Medicine 15, no. 2 (November 1997): 96–99. http://dx.doi.org/10.1136/aim.15.2.96.
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Members of a medical acupuncture society were circulated by postal questionnaire to enquire into their acupuncture practice. Over half the replies were from general practitioners, with one third from anaesthetists. Most were using acupuncture for musculo-skeletal and general pain, but a large variety of conditions were reported as responding well by small numbers of practitioners, while others regarded these same conditions as being resistant to treatment. It is suggested that this was due to inadequate training, particularly for non painful disease which requires a more traditional and less Westernised approach. The British Medical Acupuncture Society has since modified its teaching structure to take account of this finding. Acupuncture is more popular with middle aged patients and, while medical referrals are common, most patients self-refer on the recommendation of friends and relations, but not until they have tried other therapies. Once they have experienced acupuncture they are more likely to come for initial treatment with any future problems. The majority (75%) of medical acupuncturists see less than 250 patients a year, and almost 50% see less than 100. Most seem to be conventional doctors who use acupuncture for particular problems in suitable patients. The authors believe that practising acupuncture from a firm base in conventional medicine is likely to give the greatest benefit to patients.
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Sharma BGH, Carol, Sugata Das (Kumar), and Subrata Ghosh. "Prospects and retrospects of occupational hazards amongst healthcare workers." Biomedicine 43, no. 1 (February 26, 2023): 1–7. http://dx.doi.org/10.51248/.v43i1.2562.
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Introduction and Aim: Several studies showed that exposed health care workers are prone to numerous workplace hazards. Safety measure implementation in high-income countries, mostly neutralize these risks. But in low- and middle-income countries (LMICs), lack of resources and by-passing essential safety measures mostly increase the risk of occupational exposure to these hazards. This study attempts to map and synthesize the available research activities on occupational hazards among health care workers in India (LMIC) and to identify the research gaps and information policy. Methods: Amongst 190 female health care workers including nursing staff and other caregivers, this humble work attempts to quantify observational and/or experimental studies in various categories of different parameters namely, physical, physiological, biochemical, ergonomic and chronobiological aspects. Results: Several specific biological hazards including blood-borne pathogenic disease, psychological hazards (workplace violence, burn-out, job dissatisfaction), ergonomic hazards including musculo-skeletal disorders and chemical hazards including biochemical abnormalities (example, exposure to latex and anti-neoplastic drugs) were observed. Several unique cross-talks between parameters of different categories were observed. Implementation of risk reduction strategies was found to be sub-optimal. Conclusion: Most of the recorded hazards are of biological type (more than 52%). Occupational safety needs to become a priority public health issue for protection of health care workers in India and other LMICs. Much more research activities are needed to understand the magnitude and the cross-talks between different hazards of the concerned profession.
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Kalinin, R. E., I. A. Suchkov, N. D. Mzhavanadze, and N. V. Korotkova. "Endothelial dysfunction in muscular dystrophies." NAUKA MOLODYKH (Eruditio Juvenium) 9, no. 2 (June 30, 2021): 326–34. http://dx.doi.org/10.23888/hmj202192326-334.
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Endotheliocytes are the key elements of the vascular wall and are involved in regulation of vascular tone and permeability, inflammation, hemostasis, angiogenesis etc. Impaired function of endothelial cells universally recognized as endothelial dysfunction is associated with a number of common diseases such as ischemic heart disease, arterial hypertension, atherosclerosis, peripheral arterial disease, septic shock, chronic kidney disease, obesity, oncological and autoimmune diseases. Less is known about the role of endothelial cells in pathogenesis of development and progression of rare diseases, such as muscular dystrophies. Muscular dystrophies involve over 30 genetically determined diseases, which are characterized by the development of a progressive muscular weakness and skeletal muscle degeneration. Presence of a nucleotide variant associated with a certain muscular dystrophy is primarily marked by a limited potential of skeletal muscle regeneration due to the impaired structure and function of myogenic cells. Inherited myopathies include a group of severe neuromuscular diseases caused by a mutation in the dysferlin gene DYSF, which leads to the synthesis of a dysfunctional dysferlin. Complex molecular and cellular interactions involved in skeletal muscle damage and endothelial dysfunction play an important role in the pathogenesis of dysferlinopathies. The possibility to produce an effect on different pathological aspects of dysferlinassociated myopathies such as complement system activation, inflammation, impaired function of endothelial cells, damage and necrosis of myofibrils are extensively studied in vitro and in vivo. This article is dedicated to the current understanding of relationship between the endothelium and its dysfunction in myogenesis and skeletal muscle regeneration in normal and pathological conditions caused by a group of inherited progressive myodystrophies, dysferlinopathies in particular, as well as possible clinical application of endothelial cells in treatment of muscular dystrophies.
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Tsechkovski, Mark S. "Musculo-skeletal diseases." Acta Orthopaedica Scandinavica 69, sup281 (January 1998): 61–62. http://dx.doi.org/10.1080/17453674.1998.11744796.
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Seo, Dae Yun, Jun Hyun Bae, Hyun Seok Bang, and Yi Sub Kwak. "Role of Exercise in Skeletal Muscle Atrophy: A Mechanistic Investigation." Exercise Science 29, no. 3 (August 31, 2020): 202–7. http://dx.doi.org/10.15857/ksep.2020.29.3.202.
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PURPOSE: Skeletal muscle atrophy induces overall health problems and many related diseases in older adults. In particular, sarcopenia is related to lowered quality of life, decreased physical activity, high levels of morbidity and mortality owing to chronic diseases, and even falling. Despite the many clinical studies on skeletal muscle atrophy, a little study had been about the exact mechanism of skeletal muscle atrophy at the molecular level. In 2017, A disease code (ICD-10-CM) for skeletal muscle atrophy related to sarcopenia was announced to attempt a clinical approach in the United States. According to these approaches, non-invasive clinical treatment is the most effective method for treating skeletal muscle atrophy. The purpose of this study was to analyze the molecular mechanisms of muscular exercise and related skeletal muscle atrophy factors.METHODS: This systemic review focused on skeletal muscle atrophy and muscular exercise. The keywords were used on “MeSH: muscle atrophy OR skeletal muscle atrophy OR muscle OR atrophy AND physical exercise OR exercise OR exercise training” for English and Korean. This paper searched PubMED, OVIDMEDLINE, and EMBASE for literature consideration.RESULTS: Skeletal muscle atrophy was related to a complex molecular network, and exercise affects IGF-1/Akt/mTOR signaling. The related skeletal muscle atrophy factors were evaluated as MurF1, MAFbx, IGF-1, and NFkB. We proposed new related factors such as ATF 4, Gadd45a, and p21; however, the results related to exercise were not shown in recent studies.CONCLUSIONS: In conclusion, we identified skeletal muscle atrophy factors at the molecular level of muscle physiology, and these new factors may become an interesting field of study in clinical human trial and animal studies.
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Scola, Rosana Herminia, Kátia Lin, Fábio Massaiti Iwamoto, Walter Oleschko Arruda, and Lineu Cesar Werneck. "Ankylosing spondylitis and central core disease: case report." Arquivos de Neuro-Psiquiatria 61, no. 3A (September 2003): 687–90. http://dx.doi.org/10.1590/s0004-282x2003000400031.
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Ankylosing spondylitis (AS) is an inflammatory disorder of unknown cause that primarily affects the axial skeleton. Neurological manifestations of AS are usually related to spinal deformities. Previous studies of the paraspinal muscles of AS patients showed muscle fiber atrophy, and core fibers. On the other hand, central core disease (CCD) is a genetic condition that primarily involves the skeletal muscles, but can present articular deformities secondary to muscular weakness. We report the case of a 45-year-old man with clinical and radiological diagnosis of AS and proximal muscular weakness in the lower limbs. Needle electromyography showed myopathic features and nerve conduction study was normal. Muscle biopsy disclosed almost complete predominance of type-1 fibers, and fibers with central cores. This is the first report of AS and CCD. Whether central core myopathy is coincidental or a new association with AS is discussed.
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Truskey, George A. "Development and application of human skeletal muscle microphysiological systems." Lab on a Chip 18, no. 20 (2018): 3061–73. http://dx.doi.org/10.1039/c8lc00553b.
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Human microphysiological systems were developed to model skeletal muscle and nerve-skeletal muscle interactions. These systems can be applied to a number of major disease states involve skeletal muscle, including type 2 diabetes, muscular dystrophy, sarcopenia and cachexia arising from cancer or heart disease.
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Piga, Daniela, Sabrina Salani, Francesca Magri, Roberta Brusa, Eleonora Mauri, Giacomo P. Comi, Nereo Bresolin, and Stefania Corti. "Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies." Therapeutic Advances in Neurological Disorders 12 (January 2019): 175628641983347. http://dx.doi.org/10.1177/1756286419833478.
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Duchenne and Becker muscular dystrophies are the most common muscle diseases and are both currently incurable. They are caused by mutations in the dystrophin gene, which lead to the absence or reduction/truncation of the encoded protein, with progressive muscle degeneration that clinically manifests in muscle weakness, cardiac and respiratory involvement and early death. The limits of animal models to exactly reproduce human muscle disease and to predict clinically relevant treatment effects has prompted the development of more accurate in vitro skeletal muscle models. However, the challenge of effectively obtaining mature skeletal muscle cells or satellite stem cells as primary cultures has hampered the development of in vitro models. Here, we discuss the recently developed technologies that enable the differentiation of skeletal muscle from human induced pluripotent stem cells (iPSCs) of Duchenne and Becker patients. These systems recapitulate key disease features including inflammation and scarce regenerative myogenic capacity that are partially rescued by genetic and pharmacological therapies and can provide a useful platform to study and realize future therapeutic treatments. Implementation of this model also takes advantage of the developing genome editing field, which is a promising approach not only for correcting dystrophin, but also for modulating the underlying mechanisms of skeletal muscle development, regeneration and disease. These data prove the possibility of creating an accurate Duchenne and Becker in vitro model starting from iPSCs, to be used for pathogenetic studies and for drug screening to identify strategies capable of stopping or reversing muscular dystrophinopathies and other muscle diseases.
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Bodor, G. S., D. Porterfield, E. M. Voss, S. Smith, and F. S. Apple. "Cardiac troponin-I is not expressed in fetal and healthy or diseased adult human skeletal muscle tissue." Clinical Chemistry 41, no. 12 (December 1, 1995): 1710–15. http://dx.doi.org/10.1093/clinchem/41.12.1710.
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Abstract Cardiac troponin-I (cTnI) is not found in sera of patients with skeletal muscle disease in the absence of myocardial injury. It is not known, however, whether trace amounts of cTnI are expressed in regenerating human skeletal muscle, as has been observed with creatine kinase MB. Using immunohistochemical and biochemical techniques, we investigated cTnI expression in various human muscle tissues: human heart tissue (n = 5), normal adult skeletal muscle (n = 3), and fetal heart (n = 3) and skeletal muscle (n = 3) obtained, respectively, during heart transplant, from autopsy, or from a tissue bank. Specimens from diagnostic tissue biopsies were used as diseased skeletal muscle: polymyositis (PM), n = 13; Duchenne muscular dystrophy (DMD), n = 6. Frozen sections 8 microns thick were stained immunohistochemically for either cTnI or TnI (cardiac or skeletal) by using monoclonal antibodies (MAb) 2B1.9 (cTnI specific) or 3C5.10 (reactive with all TnI isoforms), respectively. cTnI was measured in tissue homogenates by an immunofluorometric assay. Cardiac muscle was stained by both MAbs. Normal fetal and adult skeletal muscle, and samples from all of the PM and DMD patients, stained only with the nonspecific MAb (3C5.10), confirming the sole presence of skeletal TnI. No cTnI was detectable by immunoassay in any skeletal muscle sample. We conclude that cTnI is not expressed in human skeletal muscle during development or during regenerative muscle disease processes such as PM or DMD.
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Huang, Shanshan, Suiqiang Zhu, Xiao-Jiang Li, and Shihua Li. "The Expanding Clinical Universe of Polyglutamine Disease." Neuroscientist 25, no. 5 (January 7, 2019): 512–20. http://dx.doi.org/10.1177/1073858418822993.
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Polyglutamine (polyQ) diseases are a group of hereditary neurodegenerative disorders caused by expansion of unstable polyQ repeats in their associated disease proteins. To date, the pathogenesis of each disease remains poorly understood, and there are no effective treatments. Growing evidence has indicated that, in addition to neurodegeneration, polyQ-expanded proteins can cause a wide array of abnormalities in peripheral tissues. Indeed, polyQ-expanded proteins are ubiquitously expressed throughout the body and can affect the function of both the central nervous system (CNS) and peripheral tissues. The peripheral effects of polyQ disease proteins include muscle wasting and reduced muscle strength in patients or animal models of spinal and bulbar muscular atrophy (SBMA), Huntington’s disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), and spinocerebellar ataxia type 17 (SCA17). Since skeletal muscle pathology can reflect disease progression and is more accessible for treatment than neurodegeneration in the CNS, understanding how polyQ disease proteins affect skeletal muscle will help elucidate disease mechanisms and the development of new therapeutics. In this review, we focus on important findings in terms of skeletal muscle pathology in polyQ diseases and also discuss the potential mechanisms underlying the major peripheral effects of polyQ disease proteins, as well as their therapeutic implications.
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Esaily, H. A., D. M. Serag, M. S. Rizk, A. Sonbol, and D. Salem. "AB1253 EVALUATION OF CYSTEINE-RICH 61 IN RHEUMATOID ARTHRITIS AS A DIAGNOSTIC MARKER AND PREDICTOR OF ATHEROSCLEROSIS." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 1918.2–1918. http://dx.doi.org/10.1136/annrheumdis-2020-eular.752.
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Background:Matricellular protein Cysteine-rich protein 61 (Cyr61) is involved in chronic inflammatory disorders like rheumatoid arthritis (RA) and atherosclerosis.Objectives:This study aimed to assess the value of serum Cyr61 in diagnosis of rheumatoid arthritis, evaluating its correlation with disease activity and its relation to atherosclerosis.Methods:Cross-sectional study included 105 RA patients classified into active and inactive groups according to disease activity score (DAS28) with 50 healthy age and gender-matched controls. Full clinical and laboratory assessment was done including enzyme-linked immunosorbent assay (ELISA) measurement of Cyr61. Bilateral assessment of carotid intima-media thickness (CIMT) was done using high resolution-ultrasonography. Comparison of Cyr61 between RA patients and controls, correlation between Cyr61 and disease activity and CIMT were analyzed with appropriate statistical analyses.Results:Significant elevation of Cyr61 in RA patients compared to controls (235.62±62.5 vs. 73.11±18.2) respectively. The cut off value of Cyr61 was 99.25 pg/ml, with area under the curve (AUC) =0.995, P <0.001, 98 % sensitivity and 95% specificity. Cyr61 was inversely correlated with DAS28 and its components in RA patients (r=- 0.92, r=- 0.94) (p<0.001). There was a significant positive correlation between Cyr61 levels and CIMT in inactive and active RA patients (r=0.88, r=0.47) respectively.Conclusion:Serum Cyr61 as a potential diagnostic biomarker in RA is inversely correlated with disease activity. High Cyr61 in RA is a risk factor for atherosclerosis. Disruption of serum Cyr61 is engaged in the pathogenesis of both rheumatoid arthritis and atherosclerosis which is a clue for a future treatment strategy of RA.References:[1]Smolen JS, Aletaha D, Barton A, Burmester GR, Emery P, Firestein GS, Kavanaugh A, McInnes IB, Solomon DH, Strand V, Yamamoto K (2018) Rheumatoid arthritis. Nature reviews Disease primers 4:18001. doi:10.1038/nrdp.2018.1[2]Pelechas E, Kaltsonoudis E, Voulgari PV, Drosos AA (2019) Rheumatoid Arthritis. In: Pelechas E, Kaltsonoudis E, Voulgari PV, Drosos AA (eds) Illustrated Handbook of Rheumatic and Musculo-Skeletal Diseases. Springer International Publishing, Cham, pp 45-76. doi:10.1007/978-3-030-03664-5_3[3]Sparks JA (2019) Rheumatoid Arthritis. Annals of Internal Medicine 170 (1):ITC1-ITC16. doi:10.7326/aitc201901010[4]Abd El-Monem S, Ali A, Hashaad N, Bendary A, Abd El-Aziz H (2019) Association of rheumatoid arthritis disease activity, severity with electrocardiographic findings, and carotid artery atherosclerosis. Egyptian Rheumatology and Rehabilitation 46 (1):11-20. doi:10.4103/err.err_36_18[5]Rawla P (2019) Cardiac and vascular complications in rheumatoid arthritis. Reumatologia 57 (1):27-36. doi:10.5114/reum.2019.83236[6]de Brito Rocha S, Baldo DC, Andrade LEC (2019) Clinical and pathophysiologic relevance of autoantibodies in rheumatoid arthritis. Advances in Rheumatology 59 (1):2. doi:10.1186/s42358-018-0042-8Disclosure of Interests:None declared
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Meuleman, Nathalie, C. Rocha, Jalil Bennani, Tatiana Tondreau, Alain Delforge, Philippe Lewalle, Philippe Martiat, Laurence Lagneaux, and Dominique Bron. "Reduced Intensity Conditioning Hematopoietic Stem Cell Transplantation (HSCT) with Mesenchymal Stem Cells (MSC) Infusion for Treatment of Metachromatic Leukodystrophy (MLD): A Case Report." Blood 108, no. 11 (November 16, 2006): 5255. http://dx.doi.org/10.1182/blood.v108.11.5255.5255.
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Abstract Background: Patients (pts) with MLD have neurological and musculo-skeletal defects with a limited survival. HSCT has been reported as an effective treatment to stabilize or improve defects associated with this disease. Koç and colleagues reported that donor allogeneic MSC infusion is safe and may be associated with reversal of the disease pathophysiology in some tissues (Bone Marrow transplant, 2002). We decide thus to perform a non myeloablative familial HSCT in adult pt with a symptomatic MLD in order to evaluate the safety and the benefit allogeneic HSCT with MSC infusion in a patient with MLD. An informed consent was obtained from the pt. Patient: a 23 years old women who presented an adult form of MLD for three years was admitted in our department. The most important symptoms associated with the disease were dizziness, proximal weakness of the lower limbs, difficulty to walk, disorder of the memory and urinary incontinence. The reduced intensity conditioning was preferred to decrease the morbidity and mortality of the procedure. MSC were isolated and amplified from the BM-mononuclear cells of the HSC donor. MSC expansion was made in a commercial serum-free medium (UltraCulture, Cambrex, Walkersville, MD) supplemented with a serum substitute (Ultroser, Pall Biosepra, Cergy-Saint-Christophe, France) as previously reported by our group (Eur J Haematol, 2006). Ex vivo expanded allogeneic MSC were intravenously infused at the dose of 1×106 MSC/kg of recipient body weight. The conditioning regimen of the HSCT consisted in Fludarabine and ATG combination and 5× 106 CD34 cells were infused concomitantly with 1.106 MSC cells. We did not observed any immediate or delayed side effects after the MSC infusion. The patient did not presented any complications after the HSCT. At day 8 of the transplantation she had an normal hematological recovery. The platelet nadir was 72.000/mm3 and she did not need any transfusion. With regards of her neurological status, since 22 months the patient had no new deterioration and we observed a stabilisation of the clinical manifestations. Conclusions: This case report suggests the feasibility and the potential efficacy of reduced intensity conditioning allogeneic HSCT with MSC infusion for patient with MLD. A larger trial is required to confirm this observation.
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Ricchiuti, Vincent, and Fred S. Apple. "RNA Expression of Cardiac Troponin T Isoforms in Diseased Human Skeletal Muscle." Clinical Chemistry 45, no. 12 (December 1, 1999): 2129–35. http://dx.doi.org/10.1093/clinchem/45.12.2129.
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Abstract Background: The expression of multiple cardiac troponin T (cTnT) isoforms has been demonstrated in diseased human skeletal muscle. However, cardiac troponin I (cTnI) expression has been described only in heart muscle. The goal of this study was to determine whether mRNA for cTnT, slow skeletal troponin T (sTnT), or cTnI was expressed in skeletal muscle biopsies obtained from patients with end-stage renal disease (ESRD) and Duchenne muscular dystrophy (DMD). Methods: Total mRNA was extracted from healthy human heart (n = 4), healthy human skeletal muscle (n = 5), and skeletal muscle from patients with ESRD (n = 7) and DMD (n = 5). Total RNA (1 μg) was reverse-transcribed using Moloney murine leukemia virus reverse transcriptase. The reverse-transcribed cDNAs were amplified by PCR using oligonucleotide primers specific for cTnT, sTnT, and cTnI sequences (GenBank accession numbers X74819, m19308, and X54163, respectively). Results: In all heart specimens, a 150-bp cTnT amplicon was detected. Skeletal muscle from four of seven patients with ESRD and two of five patients with DMD showed expression of a 150-bp amplicon. Using DNA sequencing and a comparison program, the 150-bp amplicons found in heart and diseased skeletal muscle specimens were 100% identical and specific to the cTnT mRNA sequence. No cTnT mRNA expression was found in healthy skeletal muscle. No evidence of sTnT mRNA was found in heart muscle. A 200-bp sTnT amplicon specific to a human sTnT sequence was detected in all skeletal muscle specimens. A 250-bp cTnI amplicon specific to the cTnI sequence was detected in all heart specimens. However, no cTnI mRNA expression was found in healthy or diseased skeletal muscle specimens. cTnT mRNA expression in both heart and diseased skeletal muscles corresponded with cTnT isoform expression, respectively, as determined by Western blot analysis. Conclusion: Our findings demonstrate cTnT mRNA expression, but no cTnI mRNA expression, by reverse transcription-PCR in diseased human skeletal muscle that expresses cTnT isoforms.
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Howard, Zachary M., Neha Rastogi, Jeovanna Lowe, J. Spencer Hauck, Pratham Ingale, Chetan Gomatam, Celso E. Gomez-Sanchez, Elise P. Gomez-Sanchez, Shyam S. Bansal, and Jill A. Rafael-Fortney. "Myeloid mineralocorticoid receptors contribute to skeletal muscle repair in muscular dystrophy and acute muscle injury." American Journal of Physiology-Cell Physiology 322, no. 3 (March 1, 2022): C354—C369. http://dx.doi.org/10.1152/ajpcell.00411.2021.
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Suppressing mineralocorticoid receptor (MR) activity with MR antagonists is therapeutic for chronic skeletal muscle pathology in Duchenne muscular dystrophy (DMD) mouse models. Although mechanisms underlying clinical MR antagonist efficacy for DMD cardiomyopathy and other cardiac diseases are defined, mechanisms in skeletal muscles are not fully elucidated. Myofiber MR knockout improves skeletal muscle force and a subset of dystrophic pathology. However, MR signaling in myeloid cells is known to be a major contributor to cardiac efficacy. To define contributions of myeloid MR in skeletal muscle function and disease, we performed parallel assessments of muscle pathology, cytokine levels, and myeloid cell populations resulting from myeloid MR genetic knockout in muscular dystrophy and acute muscle injury. Myeloid MR knockout led to lower levels of C-C motif chemokine receptor 2 (CCR2)-expressing macrophages, resulting in sustained myofiber damage after acute injury of normal muscle. In acute injury, myeloid MR knockout also led to increased local muscle levels of the enzyme that produces the endogenous MR agonist aldosterone, further supporting important contributions of MR signaling in normal muscle repair. In muscular dystrophy, myeloid MR knockout altered cytokine levels differentially between quadriceps and diaphragm muscles, which contain different myeloid populations. Myeloid MR knockout led to higher levels of fibrosis in dystrophic diaphragm. These results support important contributions of myeloid MR signaling to skeletal muscle repair in acute and chronic injuries and highlight the useful information gained from cell-specific genetic knockouts to delineate mechanisms of pharmacological efficacy.
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Conversano, Ciro, Laura Marchi, Rebecca Ciacchini, Claudia Carmassi, Bastianina Contena, Laura Maria Bazzichi, and Angelo Gemignani. "Personality Traits in Fibromyalgia (FM): Does FM Personality Exists? A Systematic Review." Clinical Practice & Epidemiology in Mental Health 14, no. 1 (September 28, 2018): 223–32. http://dx.doi.org/10.2174/1745017901814010223.
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Introduction: Fibromyalgia (FM) is the second most common rheumatic disease with many effects on patient's quality of life. It has been described as a chronic condition characterized by widespread musculo-skeletal pain, sleep disorders and prominent fatigue. Regarding the role of personality factors in fibromyalgia, researchers have focused both on personality traits and psychopathological aspects showing inconsistent results. In particular, several studies have examined the role of alexithymia in FM patients, a trait of personality characterized by difficulty in identification, recognition and description of emotions and feelings, while others have focused on a specific type of personality, such as type D personality (distressed personality). Other studies investigated personality in FM patients referring to Cloninger’s model, a psychobiological model of personality that includes both temperamental and character dimensions of personality. Analyzing scientific literature on this subject seems well suited to provide a critical review of the latest studies and their results. Methods: The method used for this review satisfies the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA). We identified PsycInfo and PubMed as databases for our research. Results: Personality is studied under many aspects and a reference model is not always present. Many studies underline high levels of alexithymia and type D personality in FM patients but when depression is controlled, these results do not differ from those of healthy controls. Conclusion: Studies that use a comprehensive model of personality present a different theoretical approach and use alternatively the Big-Five model, Eysenck’s and Cloninger’s models. The use of a comprehensive model of personality and the control of psychopathological disorders, such as anxiety and depression, seem to be very relevant for a better understanding of a specific personality profile associated with fibromyalgia.
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Bodor, Geza S., Libby Survant, Ellen M. Voss, Stephen Smith, Diane Porterfield, and Fred S. Apple. "Cardiac troponin T composition in normal and regenerating human skeletal muscle." Clinical Chemistry 43, no. 3 (March 1, 1997): 476–84. http://dx.doi.org/10.1093/clinchem/43.3.476.
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Abstract Cardiac troponin T (cTnT), measurement of which has been recommended for diagnosing myocardial infarction, was initially believed to be specific for the heart. However, recent publications have reported cTnT in sera of patients without cardiac disease; therefore, we investigated whether cTnT could be found in human skeletal muscle tissues. Using immunohistochemistry, Western blot, and quantitative cTnT ELISA, we assayed human heart (n = 3), normal human skeletal muscle (n = 6), and diseased skeletal muscle samples from patients with polymyositis (PM, n = 13) and Duchenne muscular dystrophy (DMD, n = 6). All heart specimens contained cTnT, but the expression of cTnT in normal skeletal muscle samples varied widely, ranging from no expression (quadriceps femoris) to expression by up to 20% of the muscle fibers (diaphragm). Immunohistochemistry detected cTnT in skeletal muscle of 8 of the PM patients and all of the DMD patients. Mean myofibrillar cTnT concentrations (mg/g myofibrillar protein) were: cardiac = 10.0, normal skeletal = 0.8, PM skeletal = 0.7, and DMD skeletal = 4.37, confirming the results of immunohistochemistry. Western blot analysis also confirmed the expression of cTnT in muscle from DMD patients. These findings provide evidence that cTnT is not 100% cardiac-specific but also is expressed in regenerating (PM and DMD) as well as in normal (nonregenerating) skeletal muscle.
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Piróg, Katarzyna A., and Michael D. Briggs. "Skeletal Dysplasias Associated with Mild Myopathy—A Clinical and Molecular Review." Journal of Biomedicine and Biotechnology 2010 (2010): 1–13. http://dx.doi.org/10.1155/2010/686457.
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Musculoskeletal system is a complex assembly of tissues which acts as scaffold for the body and enables locomotion. It is often overlooked that different components of this system may biomechanically interact and affect each other. Skeletal dysplasias are diseases predominantly affecting the development of the osseous skeleton. However, in some cases skeletal dysplasia patients are referred to neuromuscular clinics prior to the correct skeletal diagnosis. The muscular complications seen in these cases are usually mild and may stem directly from the muscle defect and/or from the altered interactions between the individual components of the musculoskeletal system. A correct early diagnosis may enable better management of the patients and a better quality of life. This paper attempts to summarise the different components of the musculoskeletal system which are affected in skeletal dysplasias and lists several interesting examples of such diseases in order to enable better understanding of the complexity of human musculoskeletal system.
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Urschel, Kristine L., and Erica C. McKenzie. "Nutritional Influences on Skeletal Muscle and Muscular Disease." Veterinary Clinics of North America: Equine Practice 37, no. 1 (April 2021): 139–75. http://dx.doi.org/10.1016/j.cveq.2020.12.005.
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Dutouquet, Bastien, Xavier Leleu, Antoine Moraux, Eileen Boyle, Jordan Gauthier, Houria Debarri, Salomon Manier, et al. "The EOS® System for the Detection of Bone Lesions in Patients with Multiple Myeloma,." Blood 118, no. 21 (November 18, 2011): 3921. http://dx.doi.org/10.1182/blood.v118.21.3921.3921.
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Abstract Abstract 3921 Background. Osteolytic disease is a major complication of multiple myeloma (MM) that may lead to devastating skeletal-related events (SREs). 70% of patients have osteolytic lesions at diagnosis, and up to 90% develop lytic lesions during the course of their disease. Furthermore, almost 15% of patients present with diffuse osteopenia at diagnosis. Various imaging techniques have been performed for the diagnosis and follow-up of bone disease in MM, however, conventional radiography (CR) remains the gold standard. CR has several limitations. One is that CR reveals lytic disease when more than 30% of the trabecular bone has been lost. Thus, some patients may have a suboptimal assessment of generalized osteopenia. Another limitation is that CR cannot be used for the assessment of response to therapy because the lytic bone lesions seldom show evidence of healing. On the other hand new vertebral fractures do not always indicate disease progression and may occur due to ongoing bone loss or reduction of tumor mass that supports the bony cortex. Other limitations include lack of accurate visualization of some areas, observer dependency, lengthy period on the examination table, and poor tolerance by patients with severe pain and extended lytic disease. The EOS System is a new 2D and 3D imaging system for musculo-skeletal physiology and pathology assessment with low radiation dose and standing position. We hypothesized that EOS would not be inferior to CR in terms of routine imaging and diagnosis of bone lytic lesions of patients with MM, but would improve on the quality of life during the procedure of the imaging for the frail patients with MM. Methods and Materials. Fifty six consecutive patients with symptomatic MM (at diagnostic and at first relapse) were included in this prospective study. Each patient provided informed consent. All patients underwent an EOS® examination (frontal and lateral views from skull to knees) and radiographs (axial skeleton: skull, spine, pelvis, femurs, humeri, ribs, as per International Myeloma Working Group guidelines) the same day, prior to start any treatment. Each imaging modality was read in random order by 2 reviewers independently for the detection of bone lesions (osteolytic lesions, vertebral collapses). Whole-body MRI was performed in case of disagreement between the 2 imaging modalities. Radiation dose and technical comfort were also assessed. The length of time of either exam was measured and the patients had to fill in a quality of life questionnaire aimed at comparing the roughness of the 2 techniques. Our study received prior approval from our Ethics Committee. Results. The median age was 62 (range, 32–90), gender ratio was 30 male / 26 female. CR and EOS® diagnosed 467 and 451 bone lytic lesions, respectively. There was no significant difference between the 2 imaging techniques, as 445 out of 473 bone lesions were detected by both the EOS®system and the CR. The median length of time to perform the CR exam was 6 to 8 times longer than EOS® technique. The average radiation dose with the EOS®system was 7.8 times less than with CR. The majority of the patients found the EOS®system examination to be more comfortable than the multiple radiographic incidences. The main limitation to EOS® technique was in patients with high BMI greater than 30, in whom CR remains the most sensitive technique. Furthermore, EOS® system was not able to differentiate old versus novel lytic lesions, as expected with standard radiographs. Finally, EOS presented with the same difficulty to count the number of lytic lesions per patient, as for the CR technique. Conclusion. EOS® system is a new low-dose radiation device which allows a quicker scan of the whole body. In this preliminary study performed in patients with MM, this technique allowed detection of bone lesions with better comfort for the patients as compared to CR. This is of paramount importance in patients with MM that often presented with altered health status and bone pain that hampered the ability to perform CR with optimal conditions. Disclosures: Facon: Celgene: Consultancy, Honoraria; Janssen-Cilag: Consultancy, Honoraria.
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Kharraz, Yacine, Joana Guerra, Patrizia Pessina, Antonio L. Serrano, and Pura Muñoz-Cánoves. "Understanding the Process of Fibrosis in Duchenne Muscular Dystrophy." BioMed Research International 2014 (2014): 1–11. http://dx.doi.org/10.1155/2014/965631.
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Fibrosis is the aberrant deposition of extracellular matrix (ECM) components during tissue healing leading to loss of its architecture and function. Fibrotic diseases are often associated with chronic pathologies and occur in a large variety of vital organs and tissues, including skeletal muscle. In human muscle, fibrosis is most readily associated with the severe muscle wasting disorder Duchenne muscular dystrophy (DMD), caused by loss of dystrophin gene function. In DMD, skeletal muscle degenerates and is infiltrated by inflammatory cells and the functions of the muscle stem cells (satellite cells) become impeded and fibrogenic cells hyperproliferate and are overactivated, leading to the substitution of skeletal muscle with nonfunctional fibrotic tissue. Here, we review new developments in our understanding of the mechanisms leading to fibrosis in DMD and several recent advances towards reverting it, as potential treatments to attenuate disease progression.
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Whitehead, Nicholas P., Min Jeong Kim, Kenneth L. Bible, Marvin E. Adams, and Stanley C. Froehner. "A new therapeutic effect of simvastatin revealed by functional improvement in muscular dystrophy." Proceedings of the National Academy of Sciences 112, no. 41 (September 28, 2015): 12864–69. http://dx.doi.org/10.1073/pnas.1509536112.
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Duchenne muscular dystrophy (DMD) is a lethal, degenerative muscle disease with no effective treatment. DMD muscle pathogenesis is characterized by chronic inflammation, oxidative stress, and fibrosis. Statins, cholesterol-lowering drugs, inhibit these deleterious processes in ischemic diseases affecting skeletal muscle, and therefore have potential to improve DMD. However, statins have not been considered for DMD, or other muscular dystrophies, principally because skeletal-muscle-related symptoms are rare, but widely publicized, side effects of these drugs. Here we show positive effects of statins in dystrophic skeletal muscle. Simvastatin dramatically reduced damage and enhanced muscle function in dystrophic (mdx) mice. Long-term simvastatin treatment vastly improved overall muscle health inmdxmice, reducing plasma creatine kinase activity, an established measure of muscle damage, to near-normal levels. This reduction was accompanied by reduced inflammation, more oxidative muscle fibers, and improved strength of the weak diaphragm muscle. Shorter-term treatment protected against muscle fatigue and increasedmdxhindlimb muscle force by 40%, a value comparable to current dystrophin gene-based therapies. Increased force correlated with reduced NADPH Oxidase 2 protein expression, the major source of oxidative stress in dystrophic muscle. Finally, in oldmdxmice with severe muscle degeneration, simvastatin enhanced diaphragm force and halved fibrosis, a major cause of functional decline in DMD. These improvements were accompanied by autophagy activation, a recent therapeutic target for DMD, and less oxidative stress. Together, our findings highlight that simvastatin substantially improves the overall health and function of dystrophic skeletal muscles and may provide an unexpected, novel therapy for DMD and related neuromuscular diseases.
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Dalise, Stefania, Valentina Azzollini, and Carmelo Chisari. "Brain and Muscle: How Central Nervous System Disorders Can Modify the Skeletal Muscle." Diagnostics 10, no. 12 (December 4, 2020): 1047. http://dx.doi.org/10.3390/diagnostics10121047.
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It is widely known that nervous and muscular systems work together and that they are strictly dependent in their structure and functions. Consequently, muscles undergo macro and microscopic changes with subsequent alterations after a central nervous system (CNS) disease. Despite this, only a few researchers have addressed the problem of skeletal muscle abnormalities following CNS diseases. The purpose of this review is to summarize the current knowledge on the potential mechanisms responsible for changes in skeletal muscle of patients suffering from some of the most common CSN disorders (Stroke, Multiple Sclerosis, Parkinson’s disease). With this purpose, we analyzed the studies published in the last decade. The published studies show an extreme heterogeneity of the assessment modality and examined population. Furthermore, it is evident that thanks to different evaluation methodologies, it is now possible to implement knowledge on muscle morphology, for a long time limited by the requirement of muscle biopsies. This could be the first step to amplify studies aimed to analyze muscle characteristics in CNS disease and developing rehabilitation protocols to prevent and treat the muscle, often neglected in CNS disease.
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Reyes, Nicholas L., Glen B. Banks, Mark Tsang, Daciana Margineantu, Haiwei Gu, Danijel Djukovic, Jacky Chan, et al. "Fnip1 regulates skeletal muscle fiber type specification, fatigue resistance, and susceptibility to muscular dystrophy." Proceedings of the National Academy of Sciences 112, no. 2 (December 29, 2014): 424–29. http://dx.doi.org/10.1073/pnas.1413021112.
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Mammalian skeletal muscle is broadly characterized by the presence of two distinct categories of muscle fibers called type I “red” slow twitch and type II “white” fast twitch, which display marked differences in contraction strength, metabolic strategies, and susceptibility to fatigue. The relative representation of each fiber type can have major influences on susceptibility to obesity, diabetes, and muscular dystrophies. However, the molecular factors controlling fiber type specification remain incompletely defined. In this study, we describe the control of fiber type specification and susceptibility to metabolic disease by folliculin interacting protein-1 (Fnip1). Using Fnip1 null mice, we found that loss of Fnip1 increased the representation of type I fibers characterized by increased myoglobin, slow twitch markers [myosin heavy chain 7 (MyH7), succinate dehydrogenase, troponin I 1, troponin C1, troponin T1], capillary density, and mitochondria number. Cultured Fnip1-null muscle fibers had higher oxidative capacity, and isolated Fnip1-null skeletal muscles were more resistant to postcontraction fatigue relative to WT skeletal muscles. Biochemical analyses revealed increased activation of the metabolic sensor AMP kinase (AMPK), and increased expression of the AMPK-target and transcriptional coactivator PGC1α in Fnip1 null skeletal muscle. Genetic disruption of PGC1α rescued normal levels of type I fiber markers MyH7 and myoglobin in Fnip1-null mice. Remarkably, loss of Fnip1 profoundly mitigated muscle damage in a murine model of Duchenne muscular dystrophy. These results indicate that Fnip1 controls skeletal muscle fiber type specification and warrant further study to determine whether inhibition of Fnip1 has therapeutic potential in muscular dystrophy diseases.
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Malhotra, Hemant, Ajay Yadav, Naveen Gupta, Satyajeet Soni, Jitender Kumar Singh, and Bharti Malhotra. "Chronic Myeloid Leukemia (CML) in Adolescents & Young Adults (AYA): Single Institution 10 Years Experience with 1st Line Imatinib Mesylate (IM)." Blood 136, Supplement 1 (November 5, 2020): 6. http://dx.doi.org/10.1182/blood-2020-140216.
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Introduction and Aims: CML is the commonest adult leukemia in India and the disease is diagnosed commonly in the 3rd or 4th decade of life - at least 10 years earlier than in the west, making the disease an important issue in AYA cancers. The present study reports our 10 year experience (all patients registered after 2005 with minimum of 3 years follow up) with the use of 1st line IM in patients of CML Chronic Phase (CML-CP) in patients aged 15 to 29 years. Methods: Patients of CML-CP receiving 1st line IM, aged 15 to 29 were included in the study. Standard demographics; hematological response, molecular responses (RQ-PCR on International Scale) q 6 monthly and toxicity of IM were assessed. Results A total of 337 patients of CML-CP were registered, 89 (28.7%) of which were aged between 15 to 29 and were on 1st line IM. These are reported in this study. Age distribution: 15 to 19 years: 17 (19.1%); 20 to 24: 26 (29.2%); 24 to 29: 46 (51.7%). Male female ratio: 53 (59.5%) to 36 (40.5%). Sixty one (68.5%) received innovator IM (Glivec) through the GIPAP (Glivec International Patient Assistance Program), 28 (40.5%) generic IM. At 10 years f/u, 6 (6.7%) patients were lost to f/u, 15 (16.8%) off imatinib (12 sub-optimal molecular response/relapse, and 3 b/o toxicity - 2 hepatitis, 1 renal). Seventy four (74) patients continue on IM, 56 on 400 mg/day and 18 on > 400mg/day. Fifty nine are in deep molecular response, 15 have a bcr/abl between 0.1 to 1.0 but are in complete hematological remission. Musculo-skeletal toxicity, grade I to II: 11/74 (14.8%), skin toxicity grade I: 27/74 (36.5%) and GI grade I to II: 16/74 (21.6%) were seen. Discussion and Conclusion CML is a common cancer in AYA in developing countries. IM, including generic IM, remains the standard 1st line drug for the majority and is effective, well tolerated in most patients. Issues related to treatment-free-remission (TFR), compliance, long-term drug toxicity and fertility need to be studied in this young population. Disclosures No relevant conflicts of interest to declare.
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Zrelski, Michaela M., Monika Kustermann, and Lilli Winter. "Muscle-Related Plectinopathies." Cells 10, no. 9 (September 19, 2021): 2480. http://dx.doi.org/10.3390/cells10092480.
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Plectin is a giant cytoskeletal crosslinker and intermediate filament stabilizing protein. Mutations in the human plectin gene (PLEC) cause several rare diseases that are grouped under the term plectinopathies. The most common disorder is autosomal recessive disease epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), which is characterized by skin blistering and progressive muscle weakness. Besides EBS-MD, PLEC mutations lead to EBS with nail dystrophy, EBS-MD with a myasthenic syndrome, EBS with pyloric atresia, limb-girdle muscular dystrophy type R17, or EBS-Ogna. In this review, we focus on the clinical and pathological manifestations caused by PLEC mutations on skeletal and cardiac muscle. Skeletal muscle biopsies from EBS-MD patients and plectin-deficient mice revealed severe dystrophic features with variation in fiber size, degenerative myofibrillar changes, mitochondrial alterations, and pathological desmin-positive protein aggregates. Ultrastructurally, PLEC mutations lead to a disorganization of myofibrils and sarcomeres, Z- and I-band alterations, autophagic vacuoles and cytoplasmic bodies, and misplaced and degenerating mitochondria. We also summarize a variety of genetically manipulated mouse and cell models, which are either plectin-deficient or that specifically lack a skeletal muscle-expressed plectin isoform. These models are powerful tools to study functional and molecular consequences of PLEC defects and their downstream effects on the skeletal muscle organization.