This page shows you your search results in order of date. This is page number 13.
Order by Relevance | Date
Total 11221 results found since Jan 2013.
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis
We show that CGG repeat expansion in LRP12 is a cause of amyotrophic lateral sclerosis (ALS), in addition to oculopharyngodistal myopathy (OPDM). Relatively short expansions (61 –100 repeats) produce more abnormal RNA, causing an accumulation of phosphorylated TDP-43, leading to ALS. More than 100 repeats cause MBNL1 dysfunction, leading to OPDM.
Source: The American Journal of Human Genetics - June 19, 2023 Category: Genetics & Stem Cells Authors: Kodai Kume, Takashi Kurashige, Keiko Muguruma, Hiroyuki Morino, Yui Tada, Mai Kikumoto, Tatsuo Miyamoto, Silvia Natsuko Akutsu, Yukiko Matsuda, Shinya Matsuura, Masahiro Nakamori, Ayumi Nishiyama, Rumiko Izumi, Tetsuya Niihori, Masashi Ogasawara, Nobuyuki Tags: Article Source Type: research
Effects of high-intensity interval training (HIIT) on skeletal muscle atrophy, function, and myokine profile in diabetic myopathy
CONCLUSION: Current findings show that diabetic myopathy develops earlier in glycolytic-fast-twitch fibers(EDL) than in oxidative-slow-twitch fibers(soleus). Furthermore, HIIT application prevents atrophy in skeletal muscle, increases resistance to fatigue, and has an anti-inflammatory effect.NEW FINDINGS: The current study analyzes the myokine profile and skeletal muscle function under the effect of diabetes HIIT-type exercise. We also measured maximal exercise capacity and tailored the exercise program individually according to the result. Diabetic myopathy is an important complication of diabetes yet still, it is not un...
Source: Cytokine - June 17, 2023 Category: Molecular Biology Authors: Ye şim Özçatal F ırat Akat Yakup Tatar Hakan F ıçıcılar Bilge Serdaro ğlu Ferda Topal Çelikkan Metin Ba ştuğ Source Type: research
Activation of the Aryl Hydrocarbon Receptor in Muscle Exacerbates Ischemic Pathology in Chronic Kidney Disease
CONCLUSIONS: These findings establish AHR activation in muscle as a pivotal regulator of the ischemic limb pathology in CKD. Further, the totality of the results provides support for testing of clinical interventions that diminish AHR signaling in these conditions.PMID:37325935 | DOI:10.1161/CIRCRESAHA.123.322875
Source: Circulation Research - June 16, 2023 Category: Cardiology Authors: Nicholas Balestrieri Victoria Palzkill Caroline Pass Jianna Tan Zachary R Salyers Chatick Moparthy Ania Murillo Kyoungrae Kim Trace Thome Qingping Yang Kerri A O'Malley Scott A Berceli Feng Yue Salvatore T Scali Leonardo F Ferreira Terence E Ryan Source Type: research
Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment
Sporadic late onset nemaline myopathy is a rare, progressive muscle disease, presenting in adulthood, mainly affecting proximal limb and bulbar muscles. Muscle biopsies show characteristic nemaline rods. The p...
Source: BMC Neurology - June 16, 2023 Category: Neurology Authors: Anirban Nandy, Hatice Tankisi, Anne Bruun Kr øigård, Maiken Glud Dalager, Marie Skov Hvidbjerg, Henrik Daa Schrøder and Izabella Obál Tags: Case Report Source Type: research
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions
ConclusionGiven the small numbers of IARs that occurred with the home infusions, of which only one was severe, we conclude that alglucosidase alfa can be administered safely in the home situation, provided the appropriate infrastructure is present.
Source: BioDrugs - June 16, 2023 Category: Drugs & Pharmacology Source Type: research
Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E
Genetic testing is essential for patients with a suspected hereditary myopathy. More than 50% of patients clinically diagnosed with a myopathy carry a variant of unknown significance in a myopathy gene, often leaving them without a genetic diagnosis. Limb-girdle muscular dystrophy (LGMD) type R4/2E is caused by mutations in β-sarcoglycan (SGCB). Together, β-, α-, γ-, and δ-sarcoglycan form a 4-protein transmembrane complex (SGC) that localizes to the sarcolemma. Biallelic loss-of-function mutations in any subunit can lead to LGMD. To provide functional evidence for the pathogenicity of missense variants, we performed ...
Source: Journal of Clinical Investigation - June 15, 2023 Category: Biomedical Science Authors: Chengcheng Li, Jackson Wilborn, Sara Pittman, Jil Daw, Jorge Alonso-Pérez, Jordi Díaz-Manera, Conrad C. Weihl, Gabe Haller Source Type: research
Ventricular-atrial coupling in subjects with normal, preserved, and reduced left ventricular ejection fraction: insights from cardiac magnetic resonance imaging
ConclusionsThe coupled correlations between the left atria and ventricle in every phase and the individual strain-strain curve vary with etiology. LA deformation in late diastole provides prior and incremental information on cardiac dysfunction based on LV metrics. The total LA emptying fraction was an independent indicator for clinical outcome superior to that of LV typical predictors.Clinical relevance statementLeft ventricular-atrial coupling is not only valuable for comprehending the pathophysiological mechanisms of cardiovascular diseases caused by different etiologies but also holds significant importance for the pre...
Source: European Radiology - June 15, 2023 Category: Radiology Source Type: research
Usefulness of nabilone as an antiemetic in persistent vomiting due to refractory gastrointestinal disorders
Rev Esp Enferm Dig. 2023 Jun 14. doi: 10.17235/reed.2023.9719/2023. Online ahead of print.ABSTRACTNabilone, a synthetic analogue of delta-9-Tetrahydrocannabinol, is an agonist of cannabinoid receptors (CB-1 and CB-2) approved to treat chemotherapy-induced vomiting refractory to antiemetics. Its use in patients with refractory vomiting due to gastrointestinal dysmotility (GID) has not been reported. Our study aims are to assess nabilone usefulness and side-effects in patients with refractory vomiting due to GID. Patients prescribed nabilone at St. Mark's intestinal rehabilitation unit (January 2017 to September 2022) due to...
Source: Revista Espanola de Enfermedades Digestivas - June 14, 2023 Category: Gastroenterology Authors: Cristina Olmedo Moreno Richard Holman Manni Naghibi Suzanne Donnelly Alison Culkin Lilia Malcom Nicola Vernon Simon Gabe Source Type: research
