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https://www.readbyqxmd.com/read/29780824/clinical-histological-and-immunohistochemical-findings-in-inclusion-body-myositis
#1
Leonardo Valente de Camargo, Mary Souza de Carvalho, Samuel Katsuyuki Shinjo, Acary Souza Bulle de Oliveira, Edmar Zanoteli
Sporadic inclusion body myositis (sIBM) is considered the most common acquired myopathy aged over 50 years. The disease is characterized by a particular process of muscle degeneration characterized by abnormal deposit of protein aggregates in association with inflammation. The aim of this study was to present clinical and muscle histopathological findings, including immunostaining for LC3B, p62, α -synuclein, and TDP-43, in 18 patients with sIBM. The disease predominated in males (61%) and European descendants, with onset of clinical manifestations around 59 years old...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29780003/a-disease-associated-aifm1-variant-induces-severe-myopathy-in-knockin-mice
#2
Lena Wischhof, Anna Gioran, Dagmar Sonntag-Bensch, Antonia Piazzesi, Miriam Stork, Pierluigi Nicotera, Daniele Bano
OBJECTIVE: Mutations in the AIFM1 gene have been identified in recessive X-linked mitochondrial diseases. Functional and molecular consequences of these pathogenic AIFM1 mutations have been poorly studied in vivo. METHODS/RESULTS: Here we provide evidence that the disease-associated apoptosis-inducing factor (AIF) deletion arginine 201 (R200 in rodents) causes pathology in knockin mice. Within a few months, posttranslational loss of the mutant AIF protein induces severe myopathy associated with a lower number of cytochrome c oxidase-positive muscle fibers...
May 8, 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29779757/neutral-lipid-storage-disease-with-myopathy-further-phenotypic-characterization-of-a-rare-pnpla2-variant
#3
Caitlin S Latimer, Jennifer Schleit, Adam Reynolds, Desiree A Marshall, Benjamin Podemski, Leo H Wang, Luis F Gonzalez-Cuyar
Neutral lipid storage disease with myopathy is a rare disorder of lipid metabolism caused by variants in the Patatin-Like Phospholipase Domain Containing 2 (PNPLA2) gene. Diagnosis is often delayed due to variable presentations, which is of concern due to increased risk of cardiomyopathy. Better phenotype-genotype characterization is necessary to improve speed and accuracy of diagnosis. Here, we describe a 32-year-old woman of Hmong descent with progressive muscle pain and weakness who had a muscle biopsy with characteristic features of a lipid storage myopathy...
April 19, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29779598/metabolic-myopathies-and-the-respiratory-system
#4
REVIEW
Patrick Koo, Jigme M Sethi
Metabolic myopathies are a heterogeneous group of disorders characterized by inherited defects of enzymatic pathways involved in muscle cellular energetics and adenosine triphosphate synthesis. Skeletal and respiratory muscles are most affected. There are multiple mechanisms of disease. The age of onset and prognosis vary. Metabolic myopathies cause exercise intolerance, myalgia, and increase in muscle breakdown products during exercise. Some affect smooth muscle like the diaphragm and cause respiratory failure...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29775742/ryanodine-receptor-ca-2-release-channel-post-translational-modification-central-player-in-cardiac-and-skeletal-muscle-disease
#5
Amanda Denniss, Angela F Dulhunty, Nicole A Beard
Calcium release from internal stores is a quintessential event in excitation-contraction coupling in cardiac and skeletal muscle. The ryanodine receptor Ca2+ release channel is embedded in the internal sarcoplasmic reticulum Ca2+ store, which releases Ca2+ into the cytoplasm, enabling contraction. Ryanodine receptors form the hub of a macromolecular complex extending from the extracellular space to the sarcoplasmic reticulum lumen. Ryanodine receptor activity is influenced by the integrated effects of associated co-proteins, ions, and post-translational phosphor and redox modifications...
May 15, 2018: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/29770361/differential-diagnosis-of-vacuolar-muscle-biopsies-use-of-p62-lc3-and-lamp2-immunohistochemistry
#6
Elisa Vittonatto, Silvia Boschi, Loredana CHIADò-Piat, Valentina Ponzalino, Sara Bortolani, Chiara Brusa, Innocenzo Rainero, Federica Ricci, Liliana Vercelli, Tiziana Mongini
Intrafibral vacuoles are the morphological hallmark in a wide variety of human skeletal muscle disorders with different etiology. In most cases, differential diagnosis is feasible with a routine histochemical work up of muscle biopsy. Ultrastructural analysis is an important confirmatory tool, but it is not widely available. Immunohistochemical stainings for p62, LAMP2 and LC3 are commonly available as tissutal marker for autophagy. We compared the immunohistochemical patterns for autophagic markers p62, LC3 and LAMP2 with routine histochemical markers in 39 biopsies from patients with definite diagnoses of glycogen storage disease type 2 (LOPD or Pompe disease, PD), sporadic inclusion body myositis (sIBM), oculo-pharyngeal muscular dystrophy (OPMD) and necrotizing myopathy (NM)...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29766941/idiopathic-inflammatory-myopathies-in-adults-a-comparative-study-of-bohan-and-peter-and-european-neuromuscular-center-2004-criteria
#7
Sundaram Challa, Saumya Jakati, Megha S Uppin, Meena A Kannan, Rajasekhar Liza, M K Murthy Jagarlapudi
Background: Bohan and Peter criteria are widely used for the diagnosis of idiopathic inflammatory myopathies (IIMs). Recently, European Neuromuscular Center (ENMC) formulated criteria to identify subgroups of IIMs. Aim: To compare the two diagnostic criteria in adult IIMs. Materials and Methods: This was a retrospective review of case records of histologically confirmed IIMs in adults between January 2014 and May 2015. Both the Bohan and Peter, and ENMC 2004 criteria were applied in the same group of patients to subgroup the IIMs...
May 2018: Neurology India
https://www.readbyqxmd.com/read/29763601/the-p-s85c-mutation-in-matr3-impairs-stress-granule-formation-in-matrin-3-myopathy
#8
Alexander Mensch, Beate Meinhardt, Nadine Bley, Stefan Hüttelmaier, Ilka Schneider, Gisela Stoltenburg-Didinger, Torsten Kraya, Tobias Müller, Stephan Zierz
Matrin-3-related distal myopathy is characterized mainly by progressive distal weakness of the lower extremities. The mutation p.S85C in matrin-3 (MATR3) has been identified as disease-causing alteration, whereas the specific molecular mechanisms leading to the muscle disease have not been elucidated. In the present study, muscle biopsy samples from six patients and fibroblasts from four patients harboring p.S85C mutation in MATR3 were analyzed. No specific changes in matrin-3 localization or expression were observed...
May 12, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29761224/cardiopulmonary-factors-affecting-6-min-walk-distance-in-patients-with-idiopathic-inflammatory-myopathies
#9
Naoki Mugii, Fujiko Someya
Idiopathic inflammatory myopathies involve skeletal muscles and can be associated with interstitial lung disease and/or heart dysfunction, which may reduce exercise capacity. We aimed to clarify cardiopulmonary factors affecting the 6-min walk distance in patients who were able to walk without leg pain or fatigue. Twenty-three patients with inactive adult idiopathic inflammatory myopathies, and 18 age- and gender-matched healthy controls were evaluated for hemodynamic responses using noninvasive impedance cardiography during the 6-min walk test...
May 14, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29757662/a-review-of-the-surgical-management-of-perineal-hernias-in-dogs
#10
Sukhjit Singh Gill, Robert D Barstad
Perineal hernia refers to the failure of the muscular pelvic diaphragm to support the rectal wall, resulting in herniation of pelvic and, occasionally, abdominal viscera into the subcutaneous perineal region. The proposed causes of pelvic diaphragm weakness include tenesmus associated with chronic prostatic disease or constipation, myopathy, rectal abnormalities, and gonadal hormonal imbalances. The most common presentation of perineal hernia in dogs is a unilateral or bilateral nonpainful swelling of the perineum...
May 14, 2018: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/29749052/exercise-testing-based-algorithms-to-diagnose-mcardle-disease-and-mad-defects
#11
J-B Noury, F Zagnoli, J-L Carré, I Drouillard, F Petit, C Le Maréchal, P Marcorelles, F Rannou
OBJECTIVE: As exercise intolerance and exercise-induced myalgia are commonly encountered in metabolic myopathies, functional screening tests are commonly used during the diagnostic work-up. Our objective was to evaluate the accuracy of isometric handgrip test (IHT) and progressive cycle ergometer test (PCET) to identify McArdle disease and myoadenylate deaminase (MAD) deficiency and to propose diagnostic algorithms using exercise-induced lactate and ammonia variations. METHODS: A prospective sample of 46 patients underwent an IHT and a PCET as part of their exercise-induced myalgia and intolerance evaluation...
May 10, 2018: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29748534/activated-dendritic-cells-modulate-proliferation-and-differentiation-of-human-myoblasts
#12
Leandro Ladislau, Débora M Portilho, Tristan Courau, Alhondra Solares-Pérez, Elisa Negroni, Jeanne Lainé, David Klatzmann, Adriana Bonomo, Yves Allenbach, Olivier Benveniste, Ingo Riederer, Wilson Savino, Vincent Mouly, Gillian Butler-Browne, Claudia F Benjamim
Idiopathic Inflammatory Myopathies (IIMs) are a heterogeneous group of autoimmune diseases affecting skeletal muscle tissue homeostasis. They are characterized by muscle weakness and inflammatory infiltration with tissue damage. Amongst the cells in the muscle inflammatory infiltration, dendritic cells (DCs) are potent antigen-presenting and key components in autoimmunity exhibiting an increased activation in inflamed tissues. Since, the IIMs are characterized by the focal necrosis/regeneration and muscle atrophy, we hypothesized that DCs may play a role in these processes...
May 10, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29742245/late-onset-pompe-disease-what-is-the-prevalence-of-limb-girdle-muscular-weakness-presentation
#13
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Nádia Sugano Higashi, Vânia D'Almeida, Lineu Cesar Werneck, Rosana Herminia Scola
Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main screening tool. Dried blood spots were collected for GAA activity assay from 24 patients with "unexplained" limb-girdle muscular weakness without vacuolar myopathy in their muscle biopsy. Samples with reduced enzyme activity were also investigated for GAA gene mutations...
April 2018: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29740336/mediators-and-patterns-of-muscle-loss-in-chronic-systemic-inflammation
#14
REVIEW
Sandra Pérez-Baos, Iván Prieto-Potin, Jorge A Román-Blas, Olga Sánchez-Pernaute, Raquel Largo, Gabriel Herrero-Beaumont
Besides its primary function in locomotion, skeletal muscle (SKM), which represents up to half of human's weight, also plays a fundamental homeostatic role. Through the secretion of soluble peptides, or myokines, SKM interacts with major organs involved in metabolic processes. In turn, metabolic cues from these organs are received by muscle cells, which adapt their response accordingly. This is done through an intricate intracellular signaling network characterized by the cross-talking between anabolic and catabolic pathways...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29732042/inflammatory-myopathies-in-a-patient-with-darier-disease-a-possible-association
#15
Kaveh Gharaei Nejad, Hojat Eftekhari, Rana Rafiei, Abbas Darjani, Narges Alizadeh
Background: Darier disease (DD) is an autosomal dominant genetic disorder which develops from a mutation in the ATP2A2 gene. Inflammatory myopathies (IM) are the largest group of potentially treatable myopathies. In this case, we report development of IM in a patient with DD for the second time in the literature. Case presentation: The patient is a 59-year-old female, a known case of DD, who developed proximal muscle weakness 2 weeks prior to admission. Elevated muscle-enzymes, as well as typical electromyographic and radiologic confirmed the diagnosis of IM...
2018: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/29731279/a-novel-acta1-mutation-causing-progressive-facioscapuloperoneal-myopathy-in-an-adult
#16
Justin C Kao, Teerin Liewluck, Margherita Milone
We report a 58-year-old woman with slowly progressive facio-scapulo-peroneal muscle weakness due to congenital nemaline myopathy (NM) caused by a novel ACTA1 mutation (c.118A>G, p.Met271Val). In adult patients, congenital NM should be distinguished from sporadic late-onset nemaline myopathy (SLONM), which is a treatable acquired muscle disease often associated with monoclonal gammopathy or HIV infection. Both congenital NM and SLONM are characterized by the presence of nemaline rods in muscle. The patient's clinical history of difficulty running since childhood and weakness in other family members favored a congenital NM...
May 3, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29728522/muscular-and-extramuscular-clinical-features-of-patients-with-anti-pm-scl-autoantibodies
#17
Rebecca De Lorenzo, Iago Pinal-Fernandez, Wilson Huang, Jemima Albayda, Eleni Tiniakou, Cheilonda Johnson, Jose C Milisenda, Maria Casal-Dominguez, Andrea M Corse, Sonye K Danoff, Lisa Christopher-Stine, Julie J Paik, Andrew L Mammen
OBJECTIVE: To define the clinical features of myositis patients with anti-PM/Scl-75 and/or anti-PM/Scl-100 autoantibodies at disease onset and during the course of disease and compare them to patients with other forms of myositis. METHODS: In this longitudinal cohort study, the prevalence and severity of clinical features at disease onset and during follow-up were compared between anti-PM/Scl-positive patients and those with the antisynthetase syndrome (AS), dermatomyositis (DM), and immune-mediated necrotizing myopathy (IMNM)...
May 4, 2018: Neurology
https://www.readbyqxmd.com/read/29726018/hitherto-unknown-detailed-muscle-anatomy-in-an-8-week-old-embryo
#18
Moritz V Warmbrunn, Bernadette S de Bakker, Jaco Hagoort, Pauline B Alefs-de Bakker, Roelof-Jan Oostra
Congenital muscle diseases, such as myopathies or dystrophies, occur relatively frequently, with estimated incidences of up to 4.7 per 100 000 newborns. To diagnose congenital diseases in the early stages of pregnancy, and to interpret the results of increasingly advanced in utero imaging techniques, a profound knowledge of normal human morphological development of the locomotor system and the nervous system is necessary. Muscular development, however, is an often neglected topic or is only described in a general way in embryology textbooks and papers...
May 3, 2018: Journal of Anatomy
https://www.readbyqxmd.com/read/29720800/necrotizing-autoimmune-myopathy-clinicopathologic-study-from-a-single-tertiary-care-centre
#19
Sobiya Mahnaz Ayesha, A K Meena, Navatha Vangala, Liza Rajasekhar, Subhash Kaul, Rupam Borgahain, Megha S Uppin
Background: Idiopathic inflammatory myopathies (IIMs) are a group of chronic, autoimmune disorders which include a new entity, necrotizing autoimmune myopathy (NAM). NAM lacks inflammation and presents with markedly elevated creatinine phosphokinase (CPK) levels. It is associated with connective tissue diseases (CTDs), statin use, malignancies, and most cases are idiopathic. Objectives: The objectives of this study are to describe the clinicopathologic features in muscle biopsy-proven cases of NAM...
January 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29720219/gne-myopathy-from-clinics-and-genetics-to-pathology-and-research-strategies
#20
REVIEW
Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos
GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state. Molecular research and animal modelling significantly moved forward understanding of GNE myopathy mechanisms and suggested therapeutic interventions to alleviate the symptoms. Multiple therapeutic attempts are being made to supplement sialic acid depleted in GNE myopathy muscle cells. Translational research field provided valuable knowledge through natural history studies, patient registries and clinical trial, which significantly contributed to bringing forward an era of GNE myopathy treatment...
May 2, 2018: Orphanet Journal of Rare Diseases
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