Results 121 to 130 of about 9,445 (236)

From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb‐Girdle Muscular Dystrophy Diagnosis

Health Expectations, Volume 28, Issue 3, June 2025.
ABSTRACT Introduction Limb‐girdle muscular dystrophies (LGMDs) encompass a rare and genetically diverse set of disorders, posing challenges in diagnosis due to the absence of distinct pathological features, leading to frequent misdiagnoses and inadequate symptom management.
Homira Osman, Zainab Adamji, Gerald Pfeffer, Jodi Warman‐Chardon, Pryamvada Varma, Jenna Keindel, Stacey Lintern   +6 more
wiley   +1 more source

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer [PDF]

, 2017
Patient registries are an essential tool to increase current knowledge regarding rare diseases. Understanding these data is a vital step to improve patient treatments and to create the most adequate tools for personalized medicine.
Carta, Claudio, Gonzalez-Castro, Lorena, Kaliyaperumal, Rajaram, Lopes, Pedro, Robinson, Peter [u.a.], Sernadela, Pedro, van der Horst, Eelke   +6 more
core   +1 more source

Alpha‐Synuclein as a Potential Biomarker for Inclusion Body Myositis in Blood and Muscle

Neuropathology and Applied Neurobiology, Volume 51, Issue 3, June 2025.
We examined alpha‐synuclein in muscle and serum samples of patients with IBM and other neuromuscular disorders. With the use of immunohistochemistry, we identify alpha‐synuclein muscular reactivity as a complementary diagnostic marker. Serum alpha‐synuclein levels measured by ELISA were not generally altered in IBM but correlated with disease duration ...
Tobias Mayer, Leila Scholle, Laura Foerster, Ilka Schneider, Gisela Stoltenburg‐Didinger, Karl‐Stefan Delank, Thomas Kendzierski, Anna Koelsch, Kathleen Kleeberg, Torsten Kraya, Lorenzo Barba, Steffen Naegel, Anne Schänzer, Markus Otto, Alexander Mensch   +14 more
wiley   +1 more source

Analyzing Pain Medication Use and Adherence in Patients with Myotonic Dystrophy and Facioscapulohumeral Dystrophy [PDF]

, 2015
Objectives: Myotonic dystrophy (DM) and facioscapulohumeral dystrophy (FSHD) are two of the most common muscular dystrophies in adults. It has been reported that patients with these two disorders may suffer from pain and inadequate pain management.
Fitzgerald, Bryan, Parkhill, Amy L.
core   +1 more source

Research progress of antibody coupling technique in targeted drug delivery

Interdisciplinary Medicine, Volume 3, Issue 3, May 2025.
Abstract Antibody‐drug conjugates are a cutting‐edge biotechnology recently attracting wide attention in the medical field. Binding antibodies to drug molecules could deliver drugs precisely to the site of the lesion, which shows great potential in the treatment of tumors and immune diseases.
Meng Li, Tiantian Wang, Dan Tan, Mengqi Wang, Changhai Lei, Yuqing Wang, Shi Hu   +6 more
wiley   +1 more source

Human Umbilical Vein Endothelial Cells Express the DUX4 Protein: A Basis for Further Vascular Research [PDF]

Türk Patoloji Dergisi
Objective: A growing body of evidence suggests a correlation between endothelial cell dysfunction and cancer, as well as facioscapulohumeral dystrophy, both of which are DUX4-related diseases. However, the endogenous expression of DUX4 within endothelial
Ceren HANGUL, Dilek BAHAR, Özlem EKINCI, Öznur TOKTA, Yusuf OZKUL, Sibel BERKER KARAUZUM   +5 more
doaj   +1 more source

Increased muscle satellite cell content and preserved telomere length in response to combined exercise training in patients with FSHD. [PDF]

J Physiol
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited muscle disease characterized by weakness and muscle wasting. In the absence of available treatments, exercise training has emerged as a potential strategy to attenuate muscle tissue ...
Horwath O, Montiel-Rojas D, Ponsot E, Féasson L, Kadi F.   +4 more
europepmc   +2 more sources

Attenuation of the wake of a sphere in an intense incident turbulence with large length scales [PDF]

, 2010
We report an investigation of the wake of a sphere immersed in a uniform turbulent flow for sphere Reynolds numbers ranging from 100 to 1000. An original experimental setup has been designed to generate a uniform flow convecting an isotropic turbulence ...
Amoura, Zouhir, Billet, Anne-Marie, Risso, Frédéric, Roig, Véronique   +3 more
core   +1 more source

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies [PDF]

, 2016
Rhabdomyolysis is often due to a combination of environmental trigger(s) and genetic predisposition; however, the underlying genetic cause remains elusive in many cases.
Barresi, R, Bushby, K, Childs, A-M, Davis, MR, Desikan, M, Feng, L, Fialho, D, Gardiner, AR, Hanna, MG, Hilton-Jones, D, Holton, JL, Houlden, H, Jungbluth, H, Laing, NG, Lamont, PJ, Manzur, AY, Marsh, J, Murphy, E, Parton, M, Phadke, R, Pitceathly, RDS, Quinlivan, R, Ravenscroft, G, Scalco, RS, Schapira, AH, Turner, C, Wallefeld, W   +26 more
core   +1 more source

Combined Lumbar-Sacral Plexus Block in Facioscapulohumeral Muscular Dystrophy for Hip Fracture Surgery: A Case Report

Turkish Journal of Anaesthesiology and Reanimation
Facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy that can affect individuals of all age groups. Its prevalence is reported to be 0.4-1 in 10,000 people. Because of the low occurrence of FSHD, anaesthetic management is primarily based
Mete Manici, İlayda Kalyoncu, Cemil Cihad Gedik, Mehmet Ali Deveci, Yavuz Gürkan   +4 more
doaj   +1 more source