Results 51 to 60 of about 44,988 (276)

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]

, 2019
Background: Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies are rare fatty acid β-oxidation disorders. Without dietary management the conditions are life-threatening. We conducted a systematic
Clarke, Aileen, Connock, Martin, Fraser, Hannah, Geppert, Julia, Johnson, Rebecca, Johnson, Samantha, Stinton, Christopher, Taylor-Phillips, Sian   +7 more
core   +2 more sources

Ryanodine receptor type 1 content decrease‐induced endoplasmic reticulum stress is a hallmark of myopathies

Journal of Cachexia, Sarcopenia and Muscle, 2023
Background Decreased ryanodine receptor type 1 (RyR1) protein levels are a well‐described feature of recessive RYR1‐related myopathies. The aim of the present study was twofold: (1) to determine whether RyR1 content is also decreased in other myopathies ...
Jeremy Vidal, Eric A. Fernandez, Martin Wohlwend, Pirkka‐Pekka Laurila, Andrea Lopez‐Mejia, Julien Ochala, Alexander J. Lobrinus, Bengt Kayser, Isabel C. Lopez‐Mejia, Nicolas Place, Nadège Zanou   +10 more
doaj   +1 more source

The role of Coenzyme Q10 in statin-associated myopathy [PDF]

, 2009
Statins, or 3-hydroxyl-3-methylglutaryl coenzyme HMG-CoA reductase inhibitors,\ud are cholesterol-lowering drugs which are frequently used in the primary and secondary\ud prevention of coronary artery disease. Current research and recommendations support\
Kalra, Dr Sanjay
core  

Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa, Iago Pinal‐Fernandez, Pritikanta Paul, Michael P. Skolka, Margherita Milone, Min Shi, Mithun V. Shah, Maria Casal‐Dominguez, Katherine Pak, Andrew L. Mammen, Teerin Liewluck   +10 more
wiley   +1 more source

Mood, Personality, and Behavior Changes During Treatment with Statins: A Case Series. [PDF]

, 2015
Psychiatric adverse drug reactions (ADRs) have been reported with statin use, but the literature regarding statin-associated mood/behavioral changes remains limited.
Cham, Stephanie, Golomb, Beatrice A, Koslik, Hayley J   +2 more
core   +1 more source

Statin-induced myopathic changes in primary human muscle cells and reversal by a prostaglandin F2 alpha analogue [PDF]

, 2020
Statin-related muscle side effects are a constant healthcare problem since patient compliance is dependent on side effects. Statins reduce plasma cholesterol levels and can prevent secondary cardiovascular diseases.
Dittmar, Gunnar, Grieben, Ulrike, Grunwald, Stefanie Anke, Haafke, Stefanie, Jedraszczak, Nicole, Kress, Wolfram, Patone, Giannino, Popp, Oliver, Saar, Kathrin, Spuler, Simone, Steinhagen-Thiessen, Elisabeth   +10 more
core   +1 more source

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene

Case Reports in Neurological Medicine, 2018
Mitochondrial (mt) tRNA (MTT) gene mutations are an important cause of mitochondrial diseases and are associated with a wide range of clinical presentations. Most mutations fall into three mitochondrial tRNAs (tRNAIle, tRNALeu (UUR), and tRNALys) and are
C. Simoncini, V. Montano, G. Alì, R. Costa, G. Siciliano, M. Mancuso   +5 more
doaj   +1 more source

Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems [PDF]

, 2016
Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated ...
Agrawal, Al-Qusairi, Al-Qusairi, Amoasii, Bach, Balla, Bansal, Beggs, Bevilacqua, Bitoun, Blondelle, Blot, Bohm, Bohm, Boncompagni, Buj-Bello, Butler, Caroline Sewry, Carozzi, Ceyhan-Birsoy, Cowling, Cowling, D'Alessandro, Denic, Dowling, Dowling, Dubowitz, Durieux, Durieux, Falcone, Fanny Pilot-Storck, Ferguson, Franzini-Armstrong, Fugier, Gemma L. Walmsley, Hamanaka, Helland, Hnia, Hnia, Ikeda, Inès Barthélémy, Jocelyn Laporte, Jordan Blondelle, Joubert, Jungbluth, Jungbluth, Jungbluth, Kerrie Venner, Kihara, Kihara, Klinge, Kramer, Laporte, Laurent Tiret, Lawlor, Lee, Lin, Majczenko, Manta, Marie Maurer, Maurer, McKerrell, McKerrell, Metzger, Molino, Muhammad, Nicolas Blanchard-Gutton, Nicot, Nishimura, Nori, Olby, Parton, Pelé, Pfaffl, Picas, Razzaq, Richard J. Piercy, Romero, Romero, Royer, Sabbadini, Schneiter, Shelton, Shichiji, Sinha, Strbenc, Stéphane Blot, Tiret, Tjondrokoesoemo, Toussaint, Uwanogho, Walmsley, Zhou   +92 more
core   +3 more sources

HMGB2–RAD21 Axis Promotes Fibro/Adipogenic Progenitor Proliferation and Regulates Fat Infiltration

Advanced Science, EarlyView.
This study constructed the first developmental atlas of embryonic skeletal muscle fibro/adipogenic progenitors (FAPs) and identified an HMGB2+ FAPs subpopulation that regulates FAP pool size and muscle homeostasis. HMGB2 directly targets the RAD21 promoter, and its knockout significantly reduces FAP numbers, thereby lowering the potential for ...
Xian Tong, Ziyun Liang, Tianqi Duo, Liping Pan, Qi Zhu, Jiete Liang, Xianyao Luo, Qingcai Feng, Rong Xu, Yihao Liu, Xu Chen, Luxi Chen, Xiaohong Liu, Yaosheng Chen, Delin Mo   +14 more
wiley   +1 more source