Results 91 to 100 of about 444,467 (232)

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Cardiopulmonary Exercise Testing (CPET) Guided Sub‐Anaerobic Threshold Rehabilitation in MELAS Syndrome: A Case Report

The Kaohsiung Journal of Medical Sciences, EarlyView.
Yu‐Lien Tsai, Kun‐Yuan Cheng, Yen‐Sen Lu, Ko‐Long Lin   +3 more
wiley   +1 more source

Identifying regulatory muscle processes in infantile and adult Pompe patients using a multi‐omic and morphological approach

Brain Pathology, EarlyView.
The study highlights differences in the regulatory processes of skeletal muscle, such as sarcomeric contractility, lysosomal and autophagic function, metabolic activity and immune regulation, at transcriptomic and proteomic levels in infantile and adult Pompe disease.
Alexander Schaiter, Keerthika Lohanadan, Alexander Mensch, Andreas Hentschel, Angela Rosenbohm, Cornelia Kornblum, Angela Roth, Tara Procida‐Kowalski, Heidrun H. Krämer, Andreas Hahn, Jörg Höhfeld, Dieter O. Fürst, Werner Stenzel, Peter F. M. van der Ven, Andreas Roos, Marek Bartkuhn, Anne Schänzer   +16 more
wiley   +1 more source

Reply to Comment on: “Based on a Single Case, Cardiopulmonary Training Cannot Be Recommended as Therapy for Hemiparesis in MELAS With Ischemic Stroke”

The Kaohsiung Journal of Medical Sciences, EarlyView.
Yen‐Sen Lu, Ko‐Long Lin
wiley   +1 more source

Voice Fundamental Frequency Variation and Statin Therapy

Clinical Otolaryngology, EarlyView.
ABSTRACT Objectives Statins are considered a first‐line treatment for dyslipidaemia, being the most frequently prescribed medicine worldwide. However, statin therapy has been associated with several adverse effects, including statin‐associated myopathy, which may manifest with symptoms such as myalgia, muscle stiffness, and cramps.
Luca Francesco Parata, Paola Andreozzi, Lydia Thaleia Tzigkie, Marco de Vincentiis, Diletta Angeletti, Massimo Fusconi   +5 more
wiley   +1 more source

A Case Report of Inflammatory Myopathy and Sideroblastic Anemia

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2007
Mitochondrial myopathy, lactic acidosis, and siderobastic anemia (MLA SA) syndrome is one of the newly reported mitochondrial diseases, seven cases of which have been reported. We report a child with inflammatory myopathy, sideroblastic anemia and lactic
F Binesh, M Mortazavi Zadeh, R Fallah
doaj  

Mitochondrial oculoskeletal myopathy: case report

, 1988
We report a case of oculoskeletal myopathy with abnormal mitochondria in which the chief clinical feature was ophthalmoplegia. Muscle weakness was mild and there were no retinal or cerebellar abnormalities, no deafness and no cardiac defects.
Sola P., Panzetti P., Quaglino D., Merelli E., Fornieri C., Colombo A.   +5 more
core   +1 more source

Therapies for Cardiovascular‐Kidney‐Liver‐Metabolic Syndrome: Reappraisal of Fibrates

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Cardiovascular disease, chronic kidney disease (CKD), type 2 diabetes mellitus (T2DM), obesity and metabolic dysfunction‐associated steatohepatitis (MASH) frequently coexist and share overlapping pathophysiology, forming the proposed cardiovascular‐kidney‐liver‐metabolic (CKLM) syndrome.
Virginia Anagnostopoulou, Christoforos K. Travlos, Lucas Lage Marinho, Thomas A. Mavrakanas, João Pedro Ferreira, Abhinav Sharma   +5 more
wiley   +1 more source

The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil

Arquivos de Neuro-Psiquiatria
Objective The aim of this study was to translate and adapt the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to Portuguese for use in Brazil. Methods The scale was applied in 20 pediatric patients with mitochondrial disease, in three groups:
Gabriela Palhares Campolina-Sampaio, Laura Maria de Lima Belizário Facury Lasmar, Beatriz Silva Vilela Ribeiro, Juliana Gurgel Giannetti   +3 more
doaj   +1 more source

Genetic basis of Asian diabetes

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Recent genomic studies in Asian populations have advanced our understanding of the diagnosis, pathophysiology, risk prediction, and precision care of diabetes. Monogenic diabetes, including maturity‐onset diabetes of the young (MODY) and mitochondrial diabetes, highlights the importance of genetic diagnosis for subtype‐specific care.
Takafumi Ojima, Toshimasa Yamauchi
wiley   +1 more source